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What genetic conditions do we test for?

Eugene’s carrier tests only include serious and actionable conditions.

Details for clinicians —

These tests include:

  • All conditions recommended by the Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG), the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics and Genomics (ACMG).
  • Medicare rebate available for eligible patients that require testing under Core Carrier Screening or Couples Carrier Screening.
  • Actionable results; we do not report on variants of unknown significance
  • Severe and prevalent conditions seen across all ethnicities
  • Reports can be issued for an individual and also together as a couple in a combined couples report.
  • Genetic counsellor and geneticist analysis, interpretation and support included with every test.

There are two types of conditions on Eugene’s carrier tests:

Compare our carrier tests

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Full list of conditions tested

* X-Linked Conditions

Gene Condition
Core Carrier Screening Comprehensive Carrier Screening CFTR Cystic fibrosis
FMR1 Fragile X syndrome*
SMN1 Spinal muscular atrophy
AAAS Achalasia-addisonianism-alacrimia syndrome
ABCA12 Congenital ichthyosis, ABCA12- related
ABCA3 Surfactant metabolism dysfunction, pulmonary 3
ABCA4 Stargardt disease
ABCB11 Progressive familial intrahepatic cholestasis
ABCB4 Progressive familial intrahepatic cholestasis
ABCC8 Familial hyperinsulinism
ABCD1 Adrenoleukodystrophy*
ABCD4 Methylmalonic aciduria and homocystinuria, cblJ type
ACAD9 Acyl-CoA dehydrogenase-9 (ACAD9) deficiency
ACADM Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
ACADS Short-chain acyl-coA dehydrogenase (SCAD) deficiency
ACADSB Short branched chain acyl-CoA dehydrogenase (SBCAD) deficiency
ACADVL Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency
ACAT1 3-ketothiolase deficiency
ACOX1 Peroxisomal acyl-CoA oxidase deficiency
ACSF3 Combined malonic and methylmalonic aciduria
ADA Adenosine deaminase deficiency
ADAMTS2 Ehlers-Danlos syndrome, dermatosparaxis type
ADGRG1 Bilateral frontoparietal polymicrogyria
ADGRV1 Usher syndrome, type IIC
ADK Hypermethioninemia due to adenosine kinase deficiency
AFF2 Fragile XE syndrome*
AGA Aspartylglucosaminuria
AGL Glycogen storage disease type III
AGPAT2 Congenital generalized lipodystrophy, type 1
AGPS Rhizomelic chondrodysplasia punctata, type 3
AGXT Primary hyperoxaluria type 1
AHCY Hypermethioninemia due to deficiency of S-adenosylhomocysteine hydrolase
AHI1 Joubert syndrome, AHI1-related
AIMP1 Hypomyelinating leukodystrophy 3
AIPL1 Childhood-onset severe retinal dystrophy, AIPL1-related
AIRE Autoimmune polyendocrinopathy syndrome type I
AK2 Reticular dysgenesis
AKR1D1 Congenital Bile Acid Synthesis Defect 2
ALDH3A2 Sjogren-Larsson syndrome
ALDH4A1 Hyperprolinemia type II
ALDH7A1 Pyridoxine-dependent epilepsy
ALDOB Hereditary fructose intolerance
ALG1 Congenital disorder of glycosylation type Ik
ALG12 Congenital disorder of glycosylation type Ig
ALG3 Congenital disorder of glycosylation type Id
ALG6 Congenital disorder of glycosylation type Ic
ALMS1 Alstrom syndrome
ALOX12B Autosomal recessive, congenital, ichthyosis 2
ALOXE3 Congenital ichthyosiform erythroderma
ALPL Hypophosphatasia
AMH Persistent mullerian duct syndrome, type I
AMHR2 Persistent mullerian duct syndrome, type II
AMN Megaloblastic anemia 1
AMPD2 Pontocerebellar hypoplasia type 9
AMT Glycine encephalopathy
ANO10 Spinocerebellar ataxia 10
ANO5 Limb girdle muscular dystrophy, type 2L
ANTXR2 Hyaline fibromatosis syndrome
AP1S1 MEDNIK syndrome
AP1S2 X-linked Intellectual disability, AP1S2-related*
AP3B1 Hermansky-Pudlak syndrome 2
AP3D1 Hermansky-Pudlak syndrome 10
APOPT1 Mitochondrial complex IV deficiency
AQP2 Nephrogenic diabetes insipidus*
AR Androgen insensitivity syndrome
ARG1 Arginase deficiency
ARL13B Joubert syndrome, ARL13B-related
ARL6 ARL6-related disorders
ARSA Metachromatic leukodystrophy
ARSB Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome)
ARSE Chondrodysplasia punctata type 1*
ARX X-linked intellectual disability, ARX-related*
ASL Argininosuccinate lyase deficiency
ASNS Asparagine synthetase deficiency
ASPA Canavan disease
ASS1 Citrullinemia
ATM Ataxia-telangiectasia
ATP13A2 Kufor-Rakeb syndrome
ATP6V0A2 Cutis laxa, type IIA
ATP6V0A4 Renal tubular acidosis
ATP6V1B1 Renal tubular acidosis with deafness
ATP6V1E1 Cutis laxa, type IIC
ATP7A Menkes disease*
ATP7B Wilson disease
ATP8B1 Progressive familial intrahepatic cholestasis
ATRX Alpha thalassemia X-linked intellectual disability syndrome*
AVPR2 Nephrogenic diabetes insipidus
B9D1 Joubert syndrome 27
B9D2 Meckel syndrome 10
BBS1 Bardet-Biedl syndrome type 1
BBS10 Bardet-Biedl syndrome type 10
BBS12 Bardet-Biedl syndrome type 12
BBS2 BBS2-related ciliopathies
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BBS7 Bardet-Biedl syndrome 7
BBS9 Bardet-Biedl syndrome 9
BCHE Butyrylcholinesterase deficiency
BCKDHA Maple syrup urine disease type Ia
BCKDHB Maple syrup urine disease type Ib
BCS1L Mitochondrial complex III deficiency
BLM Bloom syndrome
BLOC1S3 Hermansky-Pudlak syndrome 8
BLOC1S6 Hermansky-Pudlak syndrome 9
BMP1 Osteogenesis imperfecta, type XIII
BMPER Diaphanospondylodysostosis
BRIP1 Fanconi anemia group J
BRWD3 X-linked intellectual disability, BRWD3-related*
BSND Bartter syndrome
BTD Biotinidase deficiency
BTK X-linked agammaglobulinemia*
C19orf12 Mitochondrial membrane protein- associated neurodegeneration
C8orf37 Bardet-Biedl Syndrome 21
CAD Early Infantile Epileptic Encephalopathy 50
CANT1 Desbuquois dysplasia 1
CAPN3 Limb-girdle muscular dystrophy type 2A
CASP14 Congenital Ichthyosis 12
CASQ2 Catecholaminergic polymorphic ventricular tachycardia
CASR Neonatal hyperparathyroidism
CAVIN1 Congenital Generalized Lipodystrophy 4
CBS Homocystinuria due to cystathionine beta-synthase deficiency
CC2D1A Autosomal recessive intellectual developmental disorder 3
CC2D2A Joubert syndrome 9
CCDC103 Primary ciliary dyskinesia, type 17
CCDC151 Primary ciliary dyskinesia, type 30
CCDC39 Primary ciliary dyskinesia, type 14
CCDC8 3-M Syndrome
CCDC88C Congenital hydrocephalus 1
CD247 Severe Combined Immunodeficiency
CD3D Severe Combined Immunodeficiency
CD3E Severe Combined Immunodeficiency
CD3G Severe Combined Immunodeficiency
CD40LG Hyper IgM syndrome*
CD59 CD59 deficiency
CD8A Familial CD8 Deficiency
CDAN1 Dyserythropoietic congenital anemia, type Ia
CDCA7 Immunodeficiency-centromeric instability-facial anomalies syndrome 3
CDH23 Usher syndrome, type 1D
CEP104 Joubert syndrome 25
CEP152 CEP152-related disorders
CEP290 CEP290-related Ciliopathies
CERKL Retinitis pigmentosa 26
CERS3 Congenital ichthyosis 9
CHAT Congenital myasthenic syndrome 6
CHM Choroideremia*
CHMP1A Pontocerebellar hypoplasia type 8
CHRNE Congenital myasthenic syndrome
CHRNG Multiple pterygium syndrome
CHST6 Macular corneal dystrophy,
CIB2 Nonsyndromic hearing loss 48
CIITA Bare lymphocyte syndrome, type II
CLCF1 Crisponi cold-induced sweating
CLCN1 Autosomal recessive congenital
CLCN5 Dent disease*
CLCNKB Bartter syndrome
CLN3 Neuronal ceroid lipofuscinosis
CLN5 Neuronal ceroid lipofuscinosis 5
CLN6 Neuronal ceroid lipofuscinosis,
CLN8 Neuronal ceroid lipofuscinosis, CLN8-related
CLP1 Pontocerebellar hypoplasia type 10
CLRN1 Usher syndrome, type 3A
CNGA1 Retinitis Pigmentosa, CNGA1-related
CNGA3 CNGA3-related retinopathy
CNGB1 Retinitis Pigmentosa, CNGB1-related
CNGB3 Achromatopsia (CNGB3-related)
CNTNAP2 Cortical dysplasia-focal epilepsy syndrome
COASY Pontocerebellar hypoplasia type 12
COL11A2 COL11A2-related disorders
COL17A1 Junctional epidermolysis bullosa
COL27A1 Steel syndrome
COL4A3 Alport syndrome, COL4A3-related
COL4A4 Alport syndrome, COL4A4-related
COL4A5 Alport syndrome, COL4A5-related*
COL7A1 Dystrophic epidermolysis bullosa
COLQ Congenital myasthenic syndrome 5
COQ4 Primary Coenzyme Q10 deficiency 7
CORO1A Immunodeficiency 8
COX10 Mitochondrial complex IV deficiency
COX15 Mitochondrial complex IV deficiency
COX20 Mitochondrial complex IV deficiency
COX6B1 Mitochondrial complex IV deficiency
CP Aceruloplasminemia
CPLANE1 Joubert syndrome 17
CPS1 Carbamoylphosphate synthetase I deficiency
CPT1A Carnitine palmitoyltransferase IA deficiency
CPT2 Carnitine palmitoyltransferase II deficiency
CRADD Intellectual developmental disorder with variant lissencephaly
CRB1 CRB1-related retinopathy
CRLF1 Crisponi cold-induced sweating syndrome 1
CRTAP Osteogenesis imperfecta, type VII
CTC1 Cerebroretinal microangiopathy with calcifications and cysts 1
CTNS Cystinosis
CTSA Galactosialidosis
CTSC Papillon-Lefevre syndrome
CTSD Neuronal ceroid lipofuscinosis, CTSD-related
CTSF Neuronal ceroid lipofuscinosis 13
CTSK Pycnodysostosis
CUL4B X-linked intellectual disability, CUL4B-related*
CUL7 Three M syndrome 1
CWC27 Retinitis pigmentosa with or without skeletal anomalies
CYBA Chronic granulomatous disease
CYBB Chronic granulomatous disease*
CYP11A1 Congenital adrenal insufficiency
CYP11B1 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
CYP11B2 Corticosterone methyloxidase deficiency
CYP17A1 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
CYP19A1 Aromatase deficiency
CYP1B1 Primary congenital glaucoma
CYP21A2 Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
CYP27A1 Cerebrotendinous xanthomatosis
CYP27B1 Vitamin D–dependent rickets, type 1
CYP4F22 Congenital ichthyosis 5
CYP7B1 Congenital bile acid synthesis defect 3
DBT Maple syrup urine disease, type II
DCAF17 Woodhouse-Sakati syndrome
DCLRE1C Severe combined immunodeficiency with sensitivity to ionizing radiation
DCX Lissencephaly*
DDB2 Xeroderma pigmentosum, group E
DDC Aromatic l-amino acid decarboxylase deficiency
DDR2 Spondylometaepiphyseal dysplasia
DDX11 Warsaw breakage syndrome
DGUOK Mitochondrial DNA depletion syndrome 3
DHCR24 Desmosterolosis
DHCR7 Smith-Lemli-Opitz syndrome
DHDDS Retinitis pigmentosa 59
DKC1 X-linked dyskeratosis congenita*
DLAT Pyruvate dehydrogenase E2 deficiency
DLD Dihydrolipoamide dehydrogenase deficiency
DLG3 X-linked intellectual disability, DLG3-related*
DLL3 Spondylocostal dysostosis 1
DMD Dystrophinopathies*
DNAH5 Primary ciliary dyskinesia, DNAH5-related
DNAI1 Primary ciliary dyskinesia, DNAI1-related
DNAI2 Primary ciliary dyskinesia, DNAI2-related
DNAL1 Primary ciliary dyskinesia, DNAL1-related
DNMT3B ICF Syndrome
DOCK8 Hyper-IgE syndrome due to DOCK8 defiency
DOK7 Congenital myasthenic syndrome, DOK7-related
DOLK Congenital disorder of glycosylation type Im
DPYD Dihydropyrimidine dehydrogenase deficiency
DTNBP1 Hermansky-Pudlak syndrome 7
DUOX2 Congenital hypothyroidism, DUOX2- related
DUOXA2 Congenital hypothyroidism, DUOXA2-related
DYNC2H1 Short-rib thoracic dysplasia 3 with or without polydactyly
DYSF Limb-girdle muscular dystrophy type 2B
EDA Hypohidrotic ectodermal dysplasia*
EFEMP2 Cutis laxa, type 1B
EIF2AK3 Wolcott-Rallison Syndrome
EIF2B1 Leukoencephalopathy with vanishing white matter
EIF2B2 Leukoencephalopathy with vanishing white matter
EIF2B3 Leukoencephalopathy with vanishing white matter
EIF2B4 Leukoencephalopathy with vanishing white matter
EIF2B5 Leukoencephalopathy with vanishing white matter
ELP1 Familial Dysautonomia
EMD Emery-Dreifuss muscular dystrophy*
EPB42 Spherocytosis, type 5
ERBB3 Familial visceral neuropathy type 1
ERCC2 ERCC2-related disorders
ERCC3 ERCC3-related photosensitivity
ERCC4 ERCC4-related disorders
ERCC5 Xeroderma Pigmentosa, group G
ERCC6 ERCC6-related disorders
ERCC8 Cockayne syndrome type A
ESCO2 Roberts syndrome
ETFA Glutaric aciduria IIA
ETFB Glutaric aciduria IIB
ETFDH Glutaric aciduria IIC
ETHE1 Ethylmalonic encephalopathy
EVC EVC-related bone growth disorders
EVC2 EVC2-related bone growth disorders
EXOSC3 Pontocerebellar hypoplasia type 1B
EYS Retinitis pigmentosa 25
F11 Factor XI deficiency
F2 Prothrombin-related conditions
F5 Factor V deficiency
F7 Factor VII deficiency
F8 Hemophilia A*
F9 Hemophilia B*
FA2H Spastic paraplegia type 35
FAH Tyrosinemia, type 1
FAM126A Hypomyelinating leukodystropy type 5
FAM161A Retinitis pigmentosa 28
FANCA Fanconi anemia group A
FANCB Fanconi anemia group B*
FANCC Fanconi anemia group C
FANCD2 Fanconi anemia, group D2
FANCE Fanconi anemia, group E
FANCF Fanconi anemia, group F
FANCG Fanconi anemia group G
FANCI Fanconi anemia, group I
FANCL Fanconi anemia, group L
FBP1 Fructose-1,6-bisphosphatase deficiency
FBXL4 Mitochondrial DNA depletion syndrome 13
FGD1 X-linked Aarskog-Scott syndrome*
FH Fumarase deficiency
FHL1 FHL1-related neuromuscular disorders*
FKBP10 Osteogenesis imperfecta type XI
FKRP FKRP Alpha-dystroglycanopathies
FKTN FKTN Alpha-dystroglycanopathies
FMO3 Trimethylaminuria
FMR1 Fragile X Syndrome Intermediate Allele *
Fragile X Syndrome Premutation*
Fragile X Syndrome Full Mutation*
FOLR1 Cerebral folate deficiency
FOXN1 T-cell immunodeficiency with thymic aplasia
FOXP3 IPEX syndrome*
FOXRED1 Mitochondrial complex I deficiency
FRAS1 Fraser syndrome
FREM2 Fraser syndrome
FTCD Glutamate formiminotransferase deficiency
FTSJ1 X-linked intellectual disability, FTSJ1-related*
FUCA1 Fucosidosis
FXN Friedreich ataxia
G6PC Glycogen storage disease, type 1a
G6PC3 Severe congenital neutropenia 4
G6PD Glucose-6-phosphate dehydrogenase deficiency*
GAA Pompe disease
GALC Krabbe disease
GALE Galactose epimerase deficiency
GALK1 Galactokinase deficiency
GALNS Mucopolysaccharidosis IVA (Morquio syndrome A)
GALNT3 Familial hyperphosphatemic tumoral calcinosis
GALT Galactosemia
GAMT Guanidinoacetate methyltransferase deficiency
GATM Cerebral creatine deficiency syndrome 3
GBA Gaucher disease
GBE1 Glycogen storage disease IV
GCDH Glutaric aciduria, type I
GDAP1 Charcot-Marie-Tooth disease, GDAP1-related
GDF5 Du Pan Syndrome
GFM1 Combined oxidative phosphorylation deficiency, GFM1-related
GFPT1 Congenital myasthenic syndrome 12
GHR Growth hormone insensitivity syndrome
GHRHR Isolated growth hormone deficiency, type 1B
GJB1 Charcot-Marie-Tooth disease, X-linked type 1*
GJB2 Nonsyndromic hearing loss 1A
GJB6 GJB6-CRYL1 related nonsyndromic hearing loss
GLA Fabry disease*
GLB1 GLB1-related gangliosidoses
GLDC Glycine encephalopathy, GLDC-related
GLE1 Lethal congenital contracture syndrome 1
GNE Inclusion body myopathy type 2 (Nonaka myopathy)
GNPAT Rhizomelic chondrodysplasia punctata, type 2
GNPTAB Mucolipidosis II & III
GNPTG Mucolipidosis III gamma
GNRHR Hypogonadotropic hypogonadism, GNRHR-related
GNS Mucopolysaccharidosis IIID (Sanfilippo syndrome D)
GORAB Geroderma osteodysplasticum
GP1BA Bernard-Soulier syndrome type A1
GP9 Bernard-Soulier syndrome type C
GPR143 X-linked Ocular albinism, GPR143-related*
GRHPR Primary hyperoxaluria type II
GRIP1 Fraser syndrome
GSS Glutathione synthetase deficiency
GUCY2D Leber congenital amaurosis 1
GUSB Mucopolysaccharidosis type VII
GYS2 Glycogen storage disease, type 0, liver
HADH Familial hyperinsulinemic hypoglycemia 4
HADHA Trifunctional protein deficiency
HADHB Trifunctional protein deficiency
HAMP Hemochromatosis, type 2B
HAX1 Severe congenital neutropenia, HAX1-related
HBA1 Alpha thalassemia
HBA2 Alpha thalassemia
HBB Sickle cell disease
HBB Hemoglobin C disease
HBB Beta thalassemia
HCFC1 Methylmalonic acidemia with homocystinuria, type cblX*
HELLS Immunodeficiency, Centromeric region instability, Facial anomalies syndrome
HEXA Tay-Sachs disease
HEXB Sandhoff disease
HFE Hereditary Hemochromatosis
HGD Alkaptonuria
HGSNAT Mucopolysaccharidosis type IIIC (Sanfilippo syndrome C)
HINT1 Neuromyotonia and axonal neuropathy
HJV Hemochromatosis, type 2A
HLCS Holocarboxylase synthetase deficiency
HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency
HOGA1 Primary hyperoxaluria type III
HPD Tyrosinemia type III
HPS1 Hermansky-Pudlak syndrome 1
HPS3 Hermansky-Pudlak syndrome 3
HPS4 Hermansky-Pudlak syndrome 4
HPS5 Hermansky-Pudlak syndrome 5
HPS6 Hermansky-Pudlak syndrome 6
HSD17B10 HSD10 mitochondrial disease*
HSD17B3 17-Beta-Hydroxysteroid Dehydrogenase Deficiency
HSD17B4 D-bifunctional protein deficiency
HSD3B2 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency
HSD3B7 Congenital bile acid synthesis defect 1
HYAL1 Mucopolysaccharidosis type IX
HYLS1 Hydrolethalus syndrome
IDH3B Retinitis pigmentosa, IDH3B-related
IDS Mucopolysaccharidosis type II (Hunter syndrome)*
IDUA Mucopolysaccharidosis, type I (Hurler syndrome)
IFT140 IFT140-related disorders
IGHMBP2 IGHMBP2-related neuropathies
IGSF1 X-linked central hypothyroidism and testicular enlargement*
IKBKB Immunodeficiency 15B
IL1RAPL1 X-linked intellectual disability, IL1RAPL1-related*
IL2RA Immunodeficiency due to CD25 deficiency
IL2RG X-linked severe combined immunodeficiency*
IL7R Severe Combined Immunodeficiency 104
INPP5E Joubert syndrome 1
INVS Nephronophthisis 2
ITGA2B Glanzmann thrombasthenia
ITGA6 Junctional epidermolysis bullosa
ITGB3 Glanzmann thrombasthenia
ITGB4 Junctional epidermolysis bullosa
ITPA Developmental and epileptic encephalopathy 35
IVD Isovaleric Acidemia
IYD Thyroid dyshormonogenesis, IYD-related
JAK3 Severe combined immunodeficiency, JAK3-related
KCNJ1 Bartter syndrome
KCNJ11 KCNJ11-related hyperinsulinism
KCTD7 Progressive myoclonic epilepsy type 3
KDM5C X-linked intellectual disability, KDM5C-related*
KIF14 Primary Autosomal Recessive Microcephaly 20
L1CAM L1 syndrome*
LAMA2 Muscular dystrophy, LAMA2-related
LAMA3 Junctional epidermolysis bullosa 2
LAMB3 Junctional epidermolysis bullosa, LAMB3-related
LAMC2 Junctional epidermolysis bullosa, LAMC2-related
LARS Infantile liver failure syndrome 1
LCA5 Leber congenital amaurosis 5
LCK Immunodeficiency 22
LDLR Familial Hypercholesterolemia
LDLRAP1 Familial Hypercholesterolemia
LHCGR Leydig cell hypoplasia
LHX3 Combined pituitary hormone deficiency 3
LIFR Stuve-Wiedemann syndrome
LIG4 LIG4 syndrome
LIPA Lysosomal acid lipase deficiency
LIPN Congenital Ichthyosis 8
LMAN1 Combined factor V and VIII deficiency
LMBRD1 Methylmalonic aciduria and homocystinuria, cblF type
LOXHD1 Nonsyndromic hearing loss 77
LPAR6 Hypotrichosis 8
LPL Familial lipoprotein lipase deficiency
LRAT Leber congenital amaurosis 14
LRP2 Donnai–Barrow syndrome
LRPPRC Leigh syndrome with Complex IV deficiency
LTBP4 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
LYST Chediak-Higashi syndrome
MAK Retinitis Pigmentosa 62
MALT1 Immunodeficiency 12
MAN2B1 Alpha-Mannosidosis
MANBA Beta-Mannosidosis
MAT1A Methionine adenosyltransferase deficiency
MCCC1 3-Methylcrotonyl-CoA carboxylase 1 deficiency (3-MCC deficiency)
MCCC2 3-Methylcrotonyl-CoA carboxylase 2 deficiency (3-MCC deficiency)
MCEE Methylmalonyl-CoA epimerase deficiency
MCOLN1 Mucolipidosis IV
MCPH1 Primary microcephaly 1, recessive
MED17 Postnatal Progressive Microcephaly with Seizures and Brain Atrophy
MEFV Familial Mediterranean fever
MEGF8 Carpenter syndrome 2
MESP2 Spondylocostal dysostosis
MFSD8 Neuronal ceroid lipofuscinosis, MFSD8-related
MID1 Opitz GBBB syndrome, type I*
MKKS Bardet-Biedl syndrome 6
MKS1 MKS1-related ciliopathies
MLC1 Megalencephalic leukoencephalopathy with subcortical cysts
MLYCD Malonyl-CoA decarboxylase deficiency
MMAA Methylmalonic aciduria, cblA type
MMAB Methylmalonic aciduria, cblB type
MMACHC Methylmalonic aciduria and homocystinuria, cblC type
MPI Congenital disorder of glycosylation type Ib
MPL Congenital amegakaryocytic thrombocytopenia
MPV17 Hepatocerebral mitochondrial DNA depletion syndrome, MPV17-related
MRE11 Ataxia-Telangiectasia-Like Disorder 1
MTHFD1 Combined immunodeficiency and megaloblastic anemia
MTHFR Homocystinuria, MTHFR-related
MTM1 Myotubular myopathy*
MTMR2 Charcot-Marie-Tooth disease, type 4B1
MTR Methylcobalamin deficiency, type cblG
MTRR Homocystinuria-megaloblastic anemia, cobalamin E type
MTTP Abetalipoproteinemia
MUT Methylmalonic aciduria– methylmalonyl–CoA mutase deficiency
MVK Mevalonate kinase deficiency
MYO15A Nonsyndromic hearing loss, MYO15A-related
MYO7A MYO7A-related disorders
NAGA Schindler disease types 1 and 3
NAGLU Mucopolysaccharidosis type IIIB (Sanfilippo syndrome B)
NAGS N-acetylglutamate synthase deficiency
NBAS SOPH syndrome
NBEAL2 Gray platelet syndrome
NBN Nijmegen breakage syndrome
NCF2 Chronic granulomatous disease 2
NCF4 Chronic granulomatous disease 4
NDP Norrie disease*
NDRG1 Charcot-Marie-Tooth disease, type 4D
NDUFA11 Mitochondrial complex I deficiency
NDUFAF2 Mitochondrial complex I deficiency
NDUFAF5 Mitochondrial complex I deficiency (Leigh syndrome)
NDUFS4 Mitochondrial complex I deficiency
NDUFS6 Mitochondrial complex I deficiency (Leigh syndrome)
NDUFS7 Mitochondrial complex I deficiency
NDUFV1 Mitochondrial complex I deficiency, nuclear type 4
NEB Nemaline myopathy
NEU1 Sialidosis, type I and II
NGLY1 Congenital disorder of deglycosylation
NHEJ1 Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
NIPAL4 Autosomal Recessive Congenital Ichthyosis 6
NONO X-linked intellectual disability syndrome 34*
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
NPHP1 NPHP1-related ciliopathies
NPHP3 NPHP3-related ciliopathies
NPHS1 Congenital nephrotic syndrome, type 1 1
NPHS2 Congenital nephrotic syndrome, type 2
NR0B1 Congenital adrenal hypoplasia*
NR2E3 NR2E3-related retinal dystrophies
NTRK1 Congenital insensitivity to pain with anhidrosis
OAT Gyrate atrophy of choroid and retina
OBSL1 3M syndrome 2
OCA2 Oculocutaneous albinism type II
OCRL OCRL-related disoders*
OPA3 Costeff syndrome
OPHN1 X-linked intellectual disability- cerebellar hypoplasia syndrome*
OSTM1 Osteopetrosis 5
OTC Ornithine transcarbamylase deficiency*
OTOF Nonsyndromic hearing loss, OTOF- related
P3H1 Osteogenesis imperfecta, type VIII
PAH Phenylketonuria (PKU
PAK3 X-linked intellectual disability, PAK3- related*
PANK2 Pantothenate kinase-associated
PC Pyruvate carboxylase deficiency
PCBD1 Tetrahydrobiopterin deficiency,
PCCA Propionic acidemia, PCCA-related
PCCB Propionic acidemia, PCCB-related
PCDH15 PCDH15-related sensory loss
PCNT Microcephalic osteodysplastic
PDE6A Retinitis pigmentosa, PDE6A-related
PDHA1 Pyruvate dehydrogenase E1-alpha deficiency*
PDHB Pyruvate dehydrogenase E1-beta
PDHX Pyruvate dehydrogenase E3-binding
PDP1 Pyruvate dehydrogenase phosphatase
PEPD Prolidase deficiency
PET100 Mitochondrial complex IV deficiency
PEX1 Zellweger syndrome, PEX1-related
PEX10 Zellweger syndrome, PEX10-related
PEX11B Zellweger spectrum disorder
PEX12 Zellweger syndrome, PEX12-related
PEX13 Zellweger spectrum disorder
PEX14 Zellweger spectrum disorder
PEX16 Zellweger spectrum disorder
PEX19 Zellweger spectrum disorder
PEX2 Zellweger syndrome, PEX2-related
PEX26 Zellweger syndrome
PEX3 Zellweger spectrum disorder
PEX5 Zellweger spectrum disorder
PEX6 Zellweger syndrome, PEX6-related
PEX7 Rhizomelic chondrodysplasia punctata, type 1
PFKM Glycogen storage disease VII
PGK1 Phosphoglycerate kinase 1 deficiency*
PGM3 Immunodeficiency 23
PHF8 X-linked intellectual disability, Siderius type*
PHGDH Phosphoglycerate dehydrogenase deficiency
PHKA1 Glycogen storage disease type IXd*
PHKA2 Glycogen storage disease type IXa*
PHKB Glycogen storage disease type IXb
PHKG2 Glycogen storage disease type IXc
PHYH Refsum disease
PIGN Multiple congenital anomalies hypotonia seizures syndrome 1
PIP5K1C Lethal congenital contractural syndrome 3
PJVK Nonsyndromic hearing loss 59
PKHD1 Polycystic kidney disease, PKHD1- related
PLA2G6 Infantile neuroaxonal dystrophy
PLEKHG5 PLEKHG5-related motor neuropathies
PLOD1 Ehlers-Danlos syndrome with kyphoscoliosis, PLOD1-related
PLOD2 Bruck syndrome 2
PLP1 PLP1-related disorders*
PMM2 Congenital disorder of glycosylation type 1a
PNP Purine nucleoside phosphorylase deficiency
PNPLA1 Autosomal recessive congenital ichthyosis 10
PNPO Pyridoxamine 5’-phosphate oxidase deficiency
POC1A Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome
POLG POLG-related disorders
POLH Xeroderma pigmentosum
POLR1C POLR1C-related disorders
POMGNT1 POMGNT1 Alpha- dystroglycanopathies
POMT1 POMT1 Alpha-dystroglycanopathies
POMT2 POMT2 Alpha-dystroglycanopathies
POR Antley-Bixler syndrome
POU1F1 Combined pituitary hormone deficiency
POU3F4 X-linked hearing loss, POU3F4- related*
PPIB Osteogenesis imperfecta, type IX
PPT1 Neuronal ceroid lipofuscinosis, PPT1-related
PQBP1 Renpenning syndrome*
PRCD Retinitis pigmentosa 36
PRDM5 Brittle cornea syndrome 2
PRF1 Hemophagocytic lymphohistiocytosis, familial, 2
PRICKLE1 Progressive myoclonic epilepsy, type 1B
PRKDC PRKDC-related immunodeficiency
PROP1 Combined pituitary hormone deficiency 2
PRPS1 PRPS1-related disorders*
PSAP Metachromatic leukodystrophy due to saposin-b deficiency
PTPRC PTPRC related-severe combined immunodeficiency
PTS Tetrahydrobiopterin deficiency
PUS1 Mitochondrial myopathy and sideroblastic anemia 1
PYCR1 Cutis laxa type IIB and type IIIB
PYGL Glycogen storage disease VI
PYGM Glycogen storage disease type V
QDPR Tetrahydrobiopterin deficiency, QDPR-related
RAB23 Carpenter syndrome
RAG1 Omenn syndrome, RAG1-related
RAG2 Omenn syndrome, RAG2-related
RAPSN RAPSN-associated acetylcholine receptor deficiency
RARS2 Pontocerebellar hypoplasia type 6
RAX Microphthalmia, isolated 3
RD3 Leber congenital amaurosis 12
RDH12 Leber congenital amaurosis type 13
RDH5 Fundus albipunctatus
RFX5 Bare lymphocyte syndrome type II
RFXANK MHC class II deficiency
RFXAP Bare lymphocyte syndrome type II
RHAG Rh Deficiency syndrome
RLBP1 Retinal dystrophy, RLBP1-related
RMRP Cartilage-Hair Hypoplasia Anauxetic Dysplasia Spectrum Disorder
RNASEH2A Aicardi-Goutieres syndrome 4
RNASEH2B Aicardi Goutieres syndrome 2
RNASEH2C Aicardi-Goutieres syndrome 3
ROGDI Kohlschutter-Tonz syndrome
RP2 X-linked Retinitis pigmentosa, RP2-related*
RPE65 RPE65-related retinopathy
RPGR X-linked Retinitis pigmentosa, RPGR-related*
RPGRIP1 Leber congenital amaurosis and Cone-rod dystrophy
RPGRIP1L RPGRIP1L-related ciliopathies
RS1 Juvenile retinoschisis*
RSPH9 Primary ciliary dyskinesia 12
RTEL1 Dyskeratosis congenita type 5
SACS Autosomal recessive spastic ataxia of Charlevoix-Saguenay
SAG Retinitis pigmentosa 47
SAMD9 Normophosphatemic Familial Tumoral Calcinosis
SAMHD1 Aicardi-Goutieres syndrome
SARS2 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome
SBDS Shwachman-Diamond syndrome
SCO1 Mitochondrial complex IV deficiency
SCO2 Mitochondrial complex IV deficiency
SDCCAG8 Bardet-Biedl syndrome and Senior-Loken syndrome
SDR9C7 Autosomal recessive congenital ichthyosis
SEC23B Congenital dyserythropoietic anemia, type II
SELENON Rigid spine muscular dystrophy
SEPSECS Pontocerebellar hypoplasia type 2D
SERPINA1 Alpha-1 antitrypsin deficiency
SERPINF1 Osteogenesis imperfecta, type VI
SGCA Limb-girdle muscular dystrophy, type 2D
SGCB Limb-girdle muscular dystrophy, type 2E
SGCD Limb-girdle muscular dystrophy, type 2F
SGCG Limb-girdle muscular dystrophy, type 2C
SGSH Mucopolysaccharidosis IIIA (Sanfilippo syndrome A)
SH3TC2 Charcot-Marie-Tooth disease, SH3TC2-related
SKIV2L Trichohepatoenteric syndrome 2
SLC12A1 Bartter syndrome
SLC12A3 Gitelman syndrome
SLC12A6 Andermann syndrome
SLC16A2 Allan-Herndon-Dudley syndrome*
SLC17A5 Sialic acid storage disorder
SLC19A2 Thiamine-responsive megaloblastic anemia syndrome
SLC19A3 Biotin-responsive basal ganglia disease
SLC1A4 Spastic tetraplegia, thin corpus callosum, and progressive microcephaly syndrome
SLC22A5 Systemic primary carnitine deficiency
SLC25A13 Citrin deficiency
SLC25A15 Hyperornithinemia- hyperammonemia-homocitrullinemia syndrome (Triple H syndrome)
SLC25A20 Carnitine-acylcarnitine translocase deficiency
SLC26A2 SLC26A2-related disorders
SLC26A3 Congenital secretory chloride diarrhea
SLC26A4 Pendred syndrome
SLC27A4 Ichthyosis prematurity syndrome
SLC2A10 Arterial tortuosity syndrome
SLC2A2 Fanconi-Bickel syndrome
SLC34A3 Hereditary hypophosphatemic rickets with hypercalciuria
SLC35A3 Arthrogryposis, intellectual disability, and seizures
SLC37A4 Glycogen storage disease, type Ib
SLC39A4 Acrodermatitis enteropathica
SLC3A1 Cystinuria, type I
SLC45A2 Oculocutaneous albinism, type IV
SLC46A1 Hereditary folate malabsorption
SLC4A1 Distal Renal Tubular Acidosis
SLC4A11 Corneal endothelial dystrophy
SLC5A5 Thyroid dyshormonogenesis, SLC5A5-related
SLC6A19 Hartnup disorder
SLC6A8 Creatine deficiency syndrome*
SLC7A7 Lysinuric protein intolerance
SLC7A9 Cystinuria, non-type I
SMARCAL1 Schimke immunoosseous dysplasia
Spinal muscular atrophy silent carrier
SMPD1 Niemann-Pick disease, type A/B
SNAP29 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
SNX10 Osteopetrosis 8
SP110 Hepatic venoocclusive disease with immunodeficiency
SPATA7 Leber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP)
SPG11 SPG11-related Neuromuscular Disorders
SPG21 Mast syndrome
SPG7 Spastic paraplegia type 7
SPINK5 Netherton syndrome
SPR Sepiapterin Reductase Deficiency
SRD5A2 5-alpha reductase deficiency
ST3GAL5 Salt and pepper developmental regression syndrome
STAR Lipoid congenital adrenal hyperplasia
STK4 Combined immunodeficiency due to STK4 deficiency
STX11 Familial hemophagocytic lymphohistiocytosis
STXBP2 Familial hemophagocytic lymphohistiocytosis
SUCLA2 Mitochondrial DNA depletion syndrome 5
SUMF1 Multiple sulfatase deficiency
SUOX Sulfite oxidase deficiency
SURF1 Leigh syndrome, SURF1-related
SYN1 X-linked epilepsy with variable learning disabilities*
SYNE4 Autosomal recessive deafness 76
TAT Tyrosinemia, type II
TAZ Barth syndrome*
TBCE Hypoparathyroidism-retardation- dysmorphism syndrome
TBX19 Adrenocorticotropic hormone deficiency
TCIRG1 Osteopetrosis 1
TCTN1 Joubert syndrome 13
TCTN2 TCTN2-related ciliopathies
TCTN3 Joubert syndrome 18
TECPR2 Spastic paraplegia 49
TERT Dyskeratosis congenita type 4
TF Atransferrinemia
TFR2 Hemochromatosis, type 3
TG Thyroid dyshormonogenesis, TG- related
TGM1 Congenital ichthyosis
TH Segawa syndrome
THOC2 X-linked Intellectual disability, THOC2-related*
TK2 Mitochondrial DNA depletion syndrome 2
TMC1 Nonsyndromic hearing loss 7
TMEM138 Joubert syndrome 16
TMEM216 TMEM216-related ciliopathies
TMEM231 Joubert syndrome 20
TMEM237 Joubert syndrome 14
TMEM38B Osteogenesis imperfecta, type XIV
TMEM67 COACH syndrome
TMEM70 Mitochondrial complex V deficiency type 2
TMPRSS3 Nonsyndromic hearing loss, TMPRSS3-related
TNFSF11 Osteopetrosis 2
TNXB Ehlers–Danlos-like syndrome due to tenascin-X deficiency
TPO Thyroid dyshormonogenesis, TPO- related
TPP1 Neuronal ceroid lipofuscinosis, TPP1- related
TRAPPC11 Limb-girdle muscular dystrophy 18
TRDN Catecholaminergic polymorphic ventricular tachycardia
TREX1 Aicardi-Goutieres syndrome 1
TRHR Generalized thyrotropin-releasing hormone resistance
TRIM32 TRIM32-related disorders
TRIM37 Mulibrey nanism
TRMU Liver failure, acute infantile
TRPM6 Hypomagnesemia 1
TSEN2 Pontocerebellar hypoplasia type 2B
TSEN34 Pontocerebellar hypoplasia type 2C
TSEN54 Pontocerebellar hypoplasia type 2A
TSFM Combined oxidative phosphorylation deficiency, TSFM-related
TSHB Congenital hypothyroidism, TSHB- related
TSHR Congenital hypothyroidism, TSHR- related
TTC37 Trichohepatoenteric syndrome
TTC7A Gastrointestinal defects and immunodeficiency syndrome
TTC8 Bardet-Biedl syndrome 8
TTPA Ataxia with isolated vitamin E deficiency
TULP1 TULP1-related retinal disorders
TYMP Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease
TYR Oculocutaneous albinism types 1A and 1B
TYRP1 Oculocutaneous albinism, type III
UGT1A1 Crigler-Najjar syndrome
UNC13D Familial hemophagocytic lymphohistiocytosis type 3
UPF3B Lujan-Fryns syndrome, UPF3B- related*
USH1C USH1C-related disorders
USH1G Usher syndrome type IG
USH2A Usher syndrome, type 2A
VDR Vitamin D-dependent rickets, type 2A
VLDLR Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1
VPS13A Choreoacanthocytosis
VPS13B Cohen syndrome
VPS45 Severe congenital neutropenia, VPS45-related
VPS53 Pontocerebellar hypoplasia type 2E
VRK1 Pontocerebellar hypoplasia type 1A
VSX2 Microphthalmia with or without coloboma
WAS WAS-related hematopoietic disorder*
WHRN Usher syndrome type 2D
WISP3 Progressive pseudorheumatoid dysplasia
WNT1 Osteogenesis imperfecta type 15
WNT10A WNT10A-related ectodermal dysplasias
WRN Werner syndrome
XPA Xeroderma pigmentosum, group A
XPC Xeroderma pigmentosum, group C
ZAP70 ZAP70-related Immunodeficiency
ZBTB24 Immunodeficiency-centromeric instability-facial anomalies syndrome 2
ZDHHC9 X-linked intellectual disability, ZDHHC9-related*
ZFYVE26 Spastic paraplegia 15
ZNF469 Brittle cornea syndrome 1
ZNF711 X-linked intellectual disability, ZNF711-related*

Couples Carrier Screening gene list

* X-Linked Conditions

Condition Gene
Couples Carrier Screening Cystic fibrosis CFTR
Fragile X syndrome* FMR1
Spinal muscular atrophy SMN1
Achalasia-addisonianism-alacrimia syndrome AAAS
Combined oxidative phosphorylation deficiency 8 AARS2
Ichthyosis, congenital, autosomal recessive 4A ABCA12
Surfactant metabolism dysfunction, pulmonary, 3 ABCA3
Cholestasis, progressive familial intrahepatic 2 ABCB11
Cholestasis, progressive familial intrahepatic 3 ABCB4
Hyperinsulinemic hypoglycemia, familial, 1 ABCC8
Adrenoleukodystrophy* ABCD1
Mitochondrial complex I deficiency due to ACAD9 deficiency ACAD9
Acyl-CoA dehydrogenase, medium chain, deficiency of ACADM
VLCAD deficiency ACADVL
Alpha-methylacetoacetic aciduria ACAT1
Peroxisomal acyl-CoA oxidase deficiency ACOX1
Adenosine deaminase deficiency, partial ADA
Ehlers-Danlos syndrome, type VIIC ADAMTS2
Aicardi-Goutieres syndrome 6 ADAR
Polymicrogyria, bilateral frontoparietal ADGRG1
Usher syndrome, type 2C ADGRV1
Adenylosuccinase deficiency ADSL
Aspartylglucosaminuria AGA
Sengers syndrome AGK
Glycogen storage disease IIIa AGL
Chondrodysplasia punctata, rhizomelic, type 3 AGPS
Hyperoxaluria, primary, type 1 AGXT
Joubert syndrome-3 AHI1
Cowchock syndrome* AIFM1
Cone-rod dystrophy AIPL1
Reticular dysgenesis AK2
Spastic paraplegia 9B, autosomal recessive ALDH18A1
Sjogren-Larsson syndrome ALDH3A2
Succinic semialdehyde dehydrogenase deficiency ALDH5A1
Epilepsy, pyridoxine-dependent ALDH7A1
Fructose intolerance ALDOB
Congenital disorder of glycosylation, type Ik ALG1
Congenital disorder of glycosylation, type Id ALG3
Congenital disorder of glycosylation, type Ic ALG6
Alstrom syndrome ALMS1
Hypophosphatasia, infantile ALPL
Pontocerebellar hypoplasia, type 9 AMPD2
Glycine encephalopathy AMT
Mental retardation, X-linked syndromic 5* AP1S2
Diabetes insipidus, nephrogenic AQP2
Argininemia ARG1
Joubert syndrome 8 ARL13B
Bardet-Biedl syndrome 3 ARL 6.00
Metachromatic leukodystrophy ARSA
Mucopolysaccharidosis type VI (Maroteaux-Lamy) ARSB
Hydranencephaly with abnormal genitalia* ARX
Argininosuccinic aciduria ASL
Asparagine synthetase deficiency ASNS
Canavan disease ASPA
Microcephaly 5, primary, autosomal recessive ASPM
Citrullinemia ASS1
Ataxia-telangiectasia ATM
Renal tubular acidosis with deafness ATP6V1B1
Menkes disease* ATP7A
Wilson disease ATP7B
Cholestasis, progressive familial intrahepatic 1 ATP8B1
Seckel syndrome 1 ATR
Mental retardation-hypotonic facies syndrome, X-linked* ATRX
3-methylglutaconic aciduria, type I AUH
Peters-plus syndrome B3GLCT
Bardet-Biedl syndrome 1 BBS1
Bardet-Biedl syndrome 10 BBS10
Bardet-Biedl syndrome 12 BBS12
Bardet-Biedl syndrome 2 BBS2
Bardet-Biedl syndrome 4 BBS4
Bardet-Biedl syndrome 5 BBS5
Bardet-Biedl syndrome 7 BBS7
Bardet-Biedl syndrome 9 BBS9
Maple syrup urine disease, type Ia BCKDHA
Maple syrup urine disease, type Ib BCKDHB
GRACILE syndrome BCS1L
Bloom syndrome BLM
Rigidity and multifocal seizure syndrome, lethal neonatal BRAT1
Mental retardation, X-linked 93* BRWD3
Bartter syndrome, type 4a BSND
Agammaglobulinemia and isolated hormone deficiency* BTK
Joubert syndrome 17 C5orf42
Desbuquois dysplasia CANT1
Muscular dystrophy, limb-girdle, type 2A CAPN3
Mental retardation* CASK
Ventricular tachycardia, catecholaminergic polymorphic, 2 CASQ2
Mental retardation, autosomal recessive 3 CC2D1A
Joubert syndrome 9 CC2D2A
Hennekam lymphangiectasia-lymphedema syndrome 1 CCBE1
Ciliary dyskinesia, primary, 17 CCDC103
Ciliary dyskinesia, primary, 14 CCDC39
Hydrocephalus, nonsyndromic, autosomal recessive CCDC88C
Immunodeficiency 19 CD3D
Immunodeficiency with hyper-IgM, type 3 CD40
Immunodeficiency, X-linked, with hyper-IgM* CD40LG
Usher syndrome, type 1D CDH23
Microcephaly 6, primary, autosomal recessive CENPJ
Seckel syndrome 5 CEP152
Joubert syndrome 5 CEP290
Joubert syndrome 15 CEP41
Myasthenic syndrome, congenital, 6, presynaptic CHAT
Myasthenic syndrome, congenital, 4A, slow-channel CHRNE
Escobar syndrome CHRNG
Bare lymphocyte syndrome, type II, complementation group A CIITA
Filippi syndrome CKAP2L
Dent disease* CLCN5
Osteopetrosis, autosomal recessive 4 CLCN7
Ceroid lipofuscinosis, neuronal, 3 CLN3
Ceroid lipofuscinosis, neuronal, 5 CLN5
Ceroid lipofuscinosis, neuronal 6 CLN6
Ceroid lipofuscinosis, neuronal, 8 CLN8
Pontocerebellar hypoplasia, type 10 CLP 1
3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia CLPB
Usher syndrome, type 3A CLRN1
Macular degeneration, juvenile CNGB3
Fibrochondrogenesis 2 COL11A2
Epidermolysis bullosa, junctional, non-Herlitz type COL17A1
Knobloch syndrome, type 1 COL18A1
Steel Syndrome COL27A1
Alport syndrome, autosomal recessive COL4A3
Alport syndrome, autosomal recessive COL4A4
Alport syndrome 1* COL4A5
Ullrich congenital muscular dystrophy 1 COL6A1
Epidermolysis bullosa dystrophica, AR COL7A1
3MC syndrome 2 COLEC11
Myasthenic syndrome, congenital, 5 COLQ
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 COX15
Carbamoylphosphate synthetase I deficiency CPS1
CPT deficiency, hepatic, type IA CPT1A
CPT II deficiency, lethal neonatal CPT2
Leber congenital amaurosis 8 CRB1
Osteogenesis imperfecta, type VII CRTAP
Joubert syndrome 21 CSPP1
Cystinosis, nephropathic CTNS
Galactosialidosis CTSA
Papillon-Lefevre syndrome CTSC
Ceroid lipofuscinosis, neuronal, 10 CTSD
Pycnodysostosis CTSK
Mental retardation, X-linked, syndromic 15 (Cabezas type)* CUL4B
Chronic granulomatous disease, autosomal, due to deficiency of CYBA CYBA
Chronic granulomatous disease, X-linked* CYBB
Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete CYP11A1
Hypoaldosteronism, congenital, due to CMO I deficiency CYP11B2
17,20-lyase deficiency, isolated CYP17A1
Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset CYP1B1
Cerebrotendinous xanthomatosis CYP27A1
Bile acid synthesis defect, congenital, 3 CYP7B1
D-2-hydroxyglutaric aciduria D2HGDH
Maple syrup urine disease, type II DBT
Woodhouse-Sakati syndrome DCAF17
Severe combined immunodeficiency, Athabascan type DCLRE1C
Lissencephaly, X-linked* DCX
Aromatic L-amino acid decarboxylase deficiency DDC
Warsaw breakage syndrome DDX11
?Diarrhea 7 DGAT1
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) DGUOK
Desmosterolosis DHCR24
Smith-Lemli-Opitz syndrome DHCR7
Retinitis pigmentosa 59 DHDDS
Perlman syndrome DIS3L2
Dyskeratosis congenita, X-linked* DKC1
Dihydrolipoamide dehydrogenase deficiency DLD
Mental retardation, X-linked 90* DLG3
Spondylocostal dysostosis 1, autosomal recessive DLL3
Duchenne muscular dystrophy* DMD
Ciliary dyskinesia, primary, 7, with or without situs inversus DNAH11
Ciliary dyskinesia, primary, 3, with or without situs inversus DNAH5
Ciliary dyskinesia, primary, 1, with or without situs inversus DNAI1
Ciliary dyskinesia, primary, 9, with or without situs inversus DNAI2
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 DNMT3B
Adams-Oliver syndrome 2 DOCK6
Myasthenic syndrome, congenital, 10 DOK7
Dyggve-Melchior-Clausen disease DYM
Short-rib thoracic dysplasia 3 with or without polydactyly DYNC2H1
Muscular dystrophy, limb-girdle, type 2B DYSF
Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency ECHS1
Ectodermal dysplasia 1, hypohidrotic, X-linked* EDA
Wolcott-Rallison syndrome EIF2AK3
Leukoencephalopathy with vanishing white matter EIF2B1
Leukoencephalopathy with vanishing white matter EIF2B2
Leukoencephalopathy with vanishing white matter EIF2B3
Leukoencephaly with vanishing white matter EIF2B4
Leukoencephalopathy with vanishing white matter EIF2B5
Dysautonomia, familial ELP1
Emery-Dreifuss muscular dystrophy 1, X-linked* EMD
Hypophosphatemic rickets, autosomal recessive, 2 ENPP1
Vici syndrome EPG5
Cerebrooculofacioskeletal syndrome 2 ERCC2
Fanconi anemia, complementation group Q ERCC4
Xeroderma pigmentosum, group G ERCC5
Cockayne syndrome, type B ERCC6
Cockayne syndrome, type A ERCC8
SC phocomelia syndrome ESCO2
Glutaric acidemia IIA ETFA
Glutaric acidemia IIB ETFB
Glutaric acidemia IIC ETFDH
Ethylmalonic encephalopathy ETHE1
Ellis-van Creveld syndrome EVC
Ellis-van Creveld syndrome EVC2
Pontocerebellar hypoplasia, type 1B EXOSC3
Pontocerebellar hypoplasia, type 1C EXOSC8
Hypoprothrombinaemia (MIM#613679);Dysprothrombinaemia F2
Tyrosinemia, type I FAH
Leukodystrophy, hypomyelinating, 5 FAM126A
Fanconi anemia, complementation group A FANCA
Fanconi anemia, complementation group B* FANCB
Fanconi anemia, complementation group C FANCC
Fanconi anemia, complementation group D2 FANCD2
Fanconi anemia, complementation group E FANCE
Fanconi anemia, complementation group F FANCF
Fanconi anemia, complementation group G FANCG
Fanconi anemia, complementation group I FANCI
Fanconi anemia, complementation group L FANCL
Hennekam lymphangiectasia-lymphedema syndrome 2 FAT4
Fructose-1,6-bisphosphatase deficiency FBP1
Parkinson disease 15, autosomal recessive FBXO7
Fumarase deficiency FH
Emery-Dreifuss muscular dystrophy 6, X-linked* FHL1
Bruck syndrome 1 FKBP10
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 FKRP
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 FKTN
FG syndrome 2* FLNA
T-cell immunodeficiency, congenital alopecia, and nail dystrophy FOXN1
Mitochondrial complex I deficiency FOXRED1
Fraser syndrome FRAS1
Fraser syndrome FREM2
Mental retardation, X-linked 9* FTSJ1
Fucosidosis FUCA1
Glycogen storage disease Ia G6PC
Dursun syndrome G6PC3
Glycogen storage disease II GAA
Krabbe disease GALC
Mucopolysaccharidosis IVA GALNS
Galactosemia GALT
Cerebral creatine deficiency syndrome 2 GAMT
Cerebral creatine deficiency syndrome 3 GATM
Glycogen storage disease IV GBE1
Glutaricaciduria, type I GCDH
Dystonia, DOPA-responsive, with or without hyperphenylalaninemia GCH1
Charcot-Marie-Tooth disease, recessive intermediate, A GDAP1
Right atrial isomerism GDF1
Chondrodysplasia, Grebe type GDF5
Combined oxidative phosphorylation deficiency 1 GFM1
Laron dwarfism GHR
Charcot-Marie-Tooth neuropathy, X-linked dominant* GJB1
Fabry disease* GLA
Mucopolysaccharidosis type IVB (Morquio) GLB1
Glycine encephalopathy GLDC
Arthrogryposis, lethal, with anterior horn cell disease GLE1
Intellectual developmental disorder with cardiac arrhythmia, 617173 (3) GNB5
Inclusion body myopathy, autosomal recessive GNE
Chondrodysplasia punctata, rhizomelic, type 2 GNPAT
Mucolipidosis III alpha/beta GNPTAB
Mucolipidosis III gamma GNPTG
Mucopolysaccharidosis type IIID GNS
Geroderma osteodysplasticum GORAB
Simpson-Golabi-Behmel syndrome, type 1* GPC3
Ocular albinism, type I, Nettleship-Falls type* GPR143
Chudley-McCullough syndrome GPSM2
Glutathione synthetase deficiency GSS
Leber congenital amaurosis 1 GUCY2D
Mucopolysaccharidosis VII GUSB
3-hydroxyacyl-CoA dehydrogenase deficiency HADH
Fatty liver, acute, of pregnancy HADHA
Trifunctional protein deficiency HADHB
Hemochromatosis, type 2B HAMP
Neutropenia, severe congenital 3, autosomal recessive HAX1
Thalassemias, beta- HBB
Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type )* HCFC1
Tay-Sachs disease HEXA
Sandhoff disease, infantile, juvenile, and adult forms HEXB
Hemochromatosis, type 2A HFE2
Mucopolysaccharidosis type IIIC (Sanfilippo C) HGSNAT
3-hydroxyisobutryl-CoA hydrolase deficiency HIBCH
Holocarboxylase synthetase deficiency HLCS
HMG-CoA lyase deficiency HMGCL
HMG-CoA synthase-2 deficiency HMGCS2
Tyrosinemia, type III HPD
Lesch-Nyhan syndrome* HPRT1
Hermansky-Pudlak syndrome 1 HPS1
Hermansky-Pudlak syndrome 3 HPS3
Hermansky-Pudlak syndrome 4 HPS4
Hermansky-Pudlak syndrome 5 HPS5
Hermansky-Pudlak syndrome 6 HPS6
HSD10 mitochondrial disease* HSD17B10
D-bifunctional protein deficiency HSD17B4
3-beta-hydroxysteroid dehydrogenase, type II, deficiency HSD3B2
Mental retardation, X-linked syndromic, Turner type* HUWE1
Hydrolethalus syndrome HYLS1
Mucopolysaccharidosis II* IDS
Mucopolysaccharidosis Ih IDUA
Neuronopathy, distal hereditary motor, type VI IGHMBP2
Immunodeficiency 15 IKBKB
Mental retardation, X-linked 21/34* IL1RAPL1
Severe combined immunodeficiency, X-linked* IL2RG
Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type IL7R
Joubert syndrome 1 INPP5E
Nephronophthisis 2, infantile INVS
Mental retardation, X-linked 1* IQSEC2
Epidermolysis bullosa, junctional, with pyloric stenosis ITGA6
Epidermolysis bullosa, junctional, with pyloric atresia ITGB4
Gillespie syndrome, 206700 (3) ITPR1
Isovaleric acidemia IVD
SCID, autosomal recessive, T-negative/B-positive type JAK3
Lissencephaly 6, with microcephaly KATNB1
Bartter syndrome, type 2 KCNJ1
Hyperinsulinemic hypoglycemia, familial, 2 KCNJ11
Jervell and Lange-Nielsen syndrome KCNQ1
Mental retardation, X-linked, syndromic, Claes-Jensen type* KDM5C
Spastic paraplegia 30, autosomal recessive KIF1A
Hydrolethalus syndrome 2 KIF7
Epidermolysis bullosa simplex, recessive 1 KRT14
MASA syndrome* L1CAM
L-2-hydroxyglutaric aciduria L2HGDH
Muscular dystrophy, congenital merosin-deficient LAMA2
Epidermolysis bullosa, junctional, Herlitz type LAMA3
Lissencephaly 5 LAMB1
Pierson syndrome LAMB2
Epidermolysis bullosa, junctional, Herlitz type LAMB3
Epidermolysis bullosa, junctional, Herlitz type LAMC2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 LARGE1
Infantile liver failure syndrome 1 LARS
Leber congenital amaurosis 5 LCA5
LDL cholesterol level QTL2/Hypercholesterolemia LDLR
Hypercholesterolemia, familial, autosomal recessive LDLRAP1
Pituitary hormone deficiency, combined, 3 LHX3
Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome LIFR
LIG4 syndrome LIG4
Cholesteryl ester storage disease LIPA
Methylmalonic aciduria and homocystinuria, cblF type LMBRD1
Restrictive dermopathy, lethal LMNA
Lipoprotein lipase deficiency LPL
Leber congenital amaurosis 14 LRAT
Donnai-Barrow syndrome LRP2
Leigh syndrome, French-Canadian type LRPPRC
Chediak-Higashi syndrome LYST
Bardet-Biedl syndrome 17 LZTFL1
Mannosidosis, alpha-, types I and II MAN2B1
Mannosidosis, beta MANBA
3MC syndrome 1 MASP1
Mucolipidosis IV MCOLN1
Microcephaly 1, primary, autosomal recessive MCPH1
Encephalopathy, neonatal severe* MECP2
Lujan-Fryns syndrome* MED12
Microcephaly, postnatal progressive, with seizures and brain atrophy MED17
Spondylocostal dysostosis 2, autosomal recessive MESP2
Mental retardation, autosomal recessive 44 METTL23
Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 (3) MFN2
Ceroid lipofuscinosis, neuronal, 7 MFSD8
Opitz GBBB syndrome, type I* MID1
McKusick-Kaufman syndrome MKKS
Meckel syndrome 1 MKS1
Megalencephalic leukoencephalopathy with subcortical cysts MLC1
Malonyl-CoA decarboxylase deficiency MLYCD
Methylmalonic aciduria, vitamin B12-responsive MMAA
Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type MMAB
Methylmalonic aciduria and homocystinuria, cblC type MMACHC
Methylmalonic aciduria and homocystinuria, cblD type MMADHC
Molybdenum cofactor deficiency A MOCS1
Molybdenum cofactor deficiency B MOCS2
Congenital disorder of glycosylation, type Ib MPI
Thrombocytopenia, congenital amegakaryocytic MPL
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) MPV17
Ataxia-telangiectasia-like disorder MRE11
Combined oxidative phosphorylation deficiency 15 MTFMT
Homocystinuria due to MTHFR deficiency MTHFR
Myotubular myopathy, X-linked* MTM1
Charcot-Marie-Tooth disease, type 4B1 MTMR2
Homocystinuria-megaloblastic anemia, cblG complementation type MTR
Homocystinuria-megaloblastic anemia, cbl E type MTRR
Abetalipoproteinemia MTTP
Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency MUSK
Methylmalonic aciduria, mut(0) type MUT
Mevalonic aciduria MVK
Microvillus inclusion disease MYO5B
Usher syndrome, type 1B MYO7A
Schindler disease, type I NAGA
Mucopolysaccharidosis type IIIB (Sanfilippo B) NAGLU
N-acetylglutamate synthase deficiency NAGS
Hypotonia, infantile, with psychomotor retardation and characteristic facies NALCN
Combined oxidative phosphorylation deficiency 24 NARS2
Nijmegen breakage syndrome NBN
Chronic granulomatous disease due to deficiency of NCF-2 NCF2
Lissencephaly 4 (with microcephaly) NDE1
Norrie disease* NDP
Charcot-Marie-Tooth disease, type 4D NDRG1
Leigh syndrome NDUFAF2
Mitochondrial complex 1 deficiency NDUFAF5
Leigh syndrome NDUFS4
Mitochondrial complex I deficiency NDUFS6
Leigh syndrome NDUFS7
Mitochondrial complex I deficiency NDUFV1
Arthrogryposis multiplex congenita 6 (MIM#619334);Nemaline myopathy 2 NEB
Sialidosis, type I NEU1
Congenital disorder of deglycosylation NGLY1
Glucocorticoid deficiency 4 NNT
Niemann-Pick disease, type C1 NPC1
Niemann-pick disease, type C2 NPC2
Joubert syndrome 4 NPHP1
Meckel syndrome 7 NPHP3
Nephrotic syndrome, type 1 NPHS1
Nephrotic syndrome, type 2 NPHS2
46XY sex reversal 2, dosage-sensitive* NR0B1
Insensitivity to pain, congenital, with anhidrosis NTRK1
Lowe syndrome* OCRL
Joubert syndrome 10* OFD1
Behr syndrome, 210000 (3) OPA1
3-methylglutaconic aciduria, type III OPA3
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance* OPHN1
Galloway-Mowat syndrome 3, 617729 (3) OSGEP
Osteopetrosis, autosomal recessive 5 OSTM1
Ornithine transcarbamylase deficiency* OTC
Osteogenesis imperfecta, type VIII P3H1
Phenylketonuria PAH
Mental retardation, X-linked 30/47* PAK3
Neurodegeneration with brain iron accumulation 1 PANK2
Pyruvate carboxylase deficiency PC
Propionicacidemia PCCA
Propionicacidemia PCCB
Usher syndrome, type 1F PCDH15
Developmental and epileptic encephalopathy 9 (MIM#300088)* PCDH19
Microcephalic osteodysplastic primordial dwarfism, type II PCNT
Pyruvate dehydrogenase E1-alpha deficiency (MIM#312170)* PDHA1
Pyruvate dehydrogenase E1-beta deficiency PDHB
Prolidase deficiency PEPD
Mitochondrial complex IV deficiency PET100
Peroxisome biogenesis disorder 1A (Zellweger) PEX1
Peroxisome biogenesis disorder 6A (Zellweger) PEX10
Peroxisome biogenesis disorder 3A (Zellweger) PEX12
Peroxisome biogenesis disorder 11A (Zellweger) PEX13
Peroxisome biogenesis disorder 8A, (Zellweger) PEX16
Peroxisome biogenesis disorder 5A (Zellweger) PEX2
Peroxisome biogenesis disorder 7A (Zellweger) PEX26
Peroxisome biogenesis disorder 2A (Zellweger) PEX5
Peroxisome biogenesis disorder 4A (Zellweger) PEX6
Chondrodysplasia punctata, rhizomelic, type 1 PEX7
Glycogen storage disease VII PFKM
Hyperphosphatasia with mental retardation syndrome 3 PGAP2
Phosphoglycerate kinase 1 deficiency* PGK 1.00
Congenital disorder of glycosylation, type It PGM1
Immunodeficiency 23 PGM3
Mental retardation syndrome, X-linked, Siderius type* PHF8
Neu-Laxova syndrome1 PHGDH
Refsum disease PHYH
Joubert syndrome 33 (MIM#617767) PIBF1
Mental retardation, autosomal recessive 53 PIGG
Multiple congenital anomalies-hypotonia-seizures syndrome 1 PIGN
Multiple congenital anomalies-hypotonia-seizures syndrome 3 PIGT
Polycystic kidney and hepatic disease PKHD1
Neurodegeneration with brain iron accumulation 2B MIM#610217;Infantile neuroaxonal dystrophy 1 MIM#256600 PLA2G6
Ehlers-Danlos syndrome, type VI PLOD1
Pelizaeus-Merzbacher disease* PLP1
Epilepsy, early-onset, vitamin B6-dependent, 617290 (3) PLPBP
Congenital disorder of glycosylation, type Ia PMM2
Microcephaly, seizures, and developmental delay PNKP
Pyridoxamine 5'-phosphate oxidase deficiency PNPO
Mitochondrial DNA depletion syndrome 4A (Alpers type) POLG
Treacher Collins syndrome 3 POLR1C
Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism POLR3B
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 POMGNT1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 POMT1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 POMT2
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis POR
Pituitary hormone deficiency, combined, 1 POU1F1
Ceroid lipofuscinosis, neuronal, 1 PPT1
Renpenning syndrome* PQBP1
Brittle cornea syndrome 2 PRDM5
Hemophagocytic lymphohistiocytosis, familial, 2 PRF1
Pituitary hormone deficiency, combined, 2 PROP1
Arts syndrome* PRPS1
Metachromatic leukodystrophy due to SAP-b deficiency PSAP
Hyperphenylalaninemia, BH4-deficient, A PTS
Mitochondrial myopathy and sideroblastic anemia 1 PUS1
Hyperphenylalaninemia, BH4-deficient, C QDPR
Warburg micro syndrome 3 RAB18
Carpenter syndrome RAB23
Warburg micro syndrome 1 RAB3GAP1
Warburg micro syndrome 2 RAB3GAP2
Severe combined immunodeficiency, B cell-negative RAG1
Severe combined immunodeficiency, B cell-negative RAG2
Fetal akinesia deformation sequence RAPSN
Pontocerebellar hypoplasia, type 6 RARS2
Microphthalmia, isolated 3 RAX
Seckel syndrome 2 RBBP8
Leber congenital amaurosis 13 RDH12
Combined oxidative phosphorylation deficiency 11 RMND1
Cartilage-hair hypoplasia RMRP
Aicardi-Goutieres syndrome 4 RNASEH2A
Aicardi-Goutieres syndrome 2 RNASEH2B
Aicardi-Goutieres syndrome 3 RNASEH2C
Retinitis pigmentosa 2* RP2
Leber congenital amaurosis 2 RPE65
Meckel syndrome 5 RPGRIP1L
Coffin-Lowry syndrome* RPS6KA3
Dyskeratosis congenita, autosomal recessive 5 RTEL1
Central core disease, MIM# 117000;Neuromuscular disease, congenital, with uniform type 1 fiber RYR1
Spastic ataxia, Charlevoix-Saguenay type SACS
Aicardi-Goutieres syndrome 5 SAMHD1
Lathosterolosis SC5D
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 SCO2
Bardet-Biedl syndrome 16 SDCCAG8
Dyserythropoietic anemia, congenital, type II SEC23B
Pontocerebellar hypoplasia type 2D SEPSECS
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome SERAC1
Orofaciodigital syndrome VI SERPINH1
Muscular dystrophy, limb-girdle, type 2D SGCA
Muscular dystrophy, limb-girdle, type 2E SGCB
Muscular dystrophy, limb-girdle, type 2F SGCD
Muscular dystrophy, limb-girdle, type 2C SGCG
Mucopolysaccharidisis type IIIA (Sanfilippo A) SGSH
Charcot-Marie-Tooth disease, type 4C SH3TC2
Trichohepatoenteric syndrome 2 SKIV2L
Bartter syndrome, type 1 SLC12A1
Agenesis of the corpus callosum with peripheral neuropathy SLC12A6
Allan-Herndon-Dudley syndrome* SLC16A2
Sialic acid storage disorder, infantile SLC17A5
Thiamine-responsive megaloblastic anemia syndrome SLC19A2
Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) SLC19A3
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly SLC1A4
Carnitine deficiency, systemic primary SLC22A5
Combined D-2- and L-2-hydroxyglutaric aciduria SLC25A1
Citrullinemia, type II, neonatal-onset SLC25A13
Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome SLC25A15
Achondrogenesis Ib SLC26A2
Diarrhea 1, secretory chloride, congenital SLC26A3
Arthrogryposis, mental retardation SLC35A3
Glycogen storage disease Ib SLC37A4
Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis SLC38A8
Acrodermatitis enteropathica SLC39A4
Albinism, oculocutaneous, type IV SLC45A2
Folate malabsorption, hereditary SLC46A1
Brown-Vialetto-Van Laere syndrome 2 SLC52A2
Brown-Vialetto-Van Laere syndrome 1 SLC52A3
Hyperekplexia 3 SLC6A5
Cerebral creatine deficiency syndrome 1* SLC6A8
Lysinuric protein intolerance SLC7A7
Schimke immunoosseous dysplasia SMARCAL1
Niemann-Pick disease, type A SMPD1
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome SNAP29
Epilepsy, hearing loss, and mental retardation syndrome, 616577 (3) SPATA5
Spastic paraplegia 11, autosomal recessive SPG11
Netherton syndrome SPINK5
Dystonia, dopa-responsive, due to sepiapterin reductase deficiency SPR
Salt and pepper developmental regression syndrome, 609056 (3) ST3GAL5
Lipoid adrenal hyperplasia STAR
Hemophagocytic lymphohistiocytosis, familial, 4 STX11
Hemophagocytic lymphohistiocytosis, familial, 5 STXBP2
Multiple sulfatase deficiency SUMF1
Sulfite oxidase deficiency SUOX
Leigh syndrome, due to COX deficiency SURF1
Epilepsy, X-linked, with variable learning disabilities and behavior disorders* SYN1
Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias TANGO2
Tyrosinemia TAT
Barth syndrome* TAZ
Pontocerebellar hypoplasia, type 11, 617695 (3) TBC1D23
Epileptic encephalopathy, early infantile, 16 TBC1D24
Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3) TBCD
Kenny-Caffey syndrome-1 TBCE
Osteopetrosis, autosomal recessive 1 TCIRG1
Transcobalamin II deficiency TCN2
Joubert syndrome 24 TCTN2
Joubert syndrome 18 TCTN3
Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay TECPR2
You-Hoover-Fong syndrome, 616954 (3) TELO2
Atransferrinemia TF
Ichthyosis, congenital, autosomal recessive 1 TGM1
Segawa syndrome, recessive TH
Mental retardation, X-linked 12/35, 300957 (3)* THOC2
Mitochondrial DNA depletion syndrome 2 (myopathic type) TK2
Joubert syndrome 16 TMEM138
Joubert syndrome 2 TMEM216
Joubert syndrome 20 TMEM231
Joubert syndrome 14 TMEM237
Joubert syndrome 6 TMEM67
Lissencephaly 8, 617255 (3) TMTC3
Pontocerebellar hypoplasia, type 7, 614969 (3) TOE1
Ceroid lipofuscinosis, neuronal, 2 TPP1
Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness TRDN
Aicardi-Goutieres syndrome 1, dominant and recessive TREX1
Muscular dystrophy, limb-girdle, type 2H TRIM32
Mulibrey nanism TRIM37
Liver failure, transient infantile TRMU
Hypomagnesemia 1, intestinal TRPM6
Pontocerebellar hypoplasia type 2B TSEN2
Pontocerebellar hypoplasia type 2A TSEN54
Combined oxidative phosphorylation deficiency 3 TSFM
Hypothryoidism, congenital, nongoitrous 4 TSHB
Trichohepatoenteric syndrome 1 TTC37
Gastrointestinal defects and immunodeficiency syndrome TTC7A
Bardet-Biedl syndrome 8 TTC8
Ataxia with isolated vitamin E deficiency TTPA
Retinitis pigmentosa 14 TULP1
Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) TWNK
Mitochondrial DNA depletion syndrome 1 (MNGIE type) TYMP
Albinism, oculocutaneous, type IA TYR
Albinism, oculocutaneous, type III TYRP1
Epileptic encephalopathy, early infantile, 44, 617132 (3) UBA5
Fanconi anemia, complementation group T UBE2T
Johanson-Blizzard syndrome UBR1
Crigler-Najjar syndrome, type I UGT1A1
Hemophagocytic lymphohistiocytosis, familial, 3 UNC13D
Mental retardation, X-linked, syndromic 14* UPF3B
Usher syndrome, type 1C USH1C
Usher syndrome, type 1G USH1G
Usher syndrome, type 2A USH2A
Mental retardation, X-linked 99* USP9X
Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 VLDLR
Leukodystrophy, hypomyelinating, 12, 616683 (3) VPS11
Cohen syndrome VPS13B
Neutropenia, severe congenital, 5, autosomal recessive VPS45
Pontocerebellar hypoplasia, type 2E VPS53
Pontocerebellar hypoplasia type 1A VRK1
Microphthalmia with coloboma 3 VSX2
Wiskott-Aldrich syndrome* WAS
Short-rib thoracic dysplasia 11 with or without polydactyly WDR34
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations WDR62
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 WDR81
Usher syndrome, type 2D WHRN
Arthropathy, progressive pseudorheumatoid, of childhood WISP3
Werner syndrome WRN
Epileptic encephalopathy, early infantile, 28 WWOX
Lymphoproliferative syndrome, X-linked, 2* XIAP
Xeroderma pigmentosum, group A XPA
Xeroderma pigmentosum, group C XPC
Myopathy, lactic acidosis, and sideroblastic anemia 2 YARS2
Immunodeficiency-centromeric instability-facial anomalies syndrome-2 ZBTB24
Mental retardation, X-linked syndromic, Raymond type* ZDHHC9
Spastic paraplegia 15, autosomal recessive ZFYVE26
Mental retardation, X-linked 97* ZNF711