PanelApp
  1. Panels
  2. Additional findings_Paediatric
Description
This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.

It is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):
Category A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association
Category B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood
Category C genes have been annotated Red: limited gene-disease association. These genes are not analysed.

The panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).
Panel Activity

5 reviewers

  • Kristin Rigbye (Victorian Clinical Genetics Services)

  • Paul De Fazio (Victorian Clinical Genetics Services)

  • Lilian Downie (Victorian Clinical Genetics Services)

  • Santosh Varughese (University of Melbourne)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

1425 Entities

131 reviewed, 895 green

List Entity Reviews Mode of inheritance Details
1425 Entitiess
Green Green List (high evidence)
AAAS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Achalasia-addisonianism-alacrimia syndrome
Tags
Green Green List (high evidence)
AARS
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Charcot-Marie-Tooth disease
Tags
Green Green List (high evidence)
ABCA12
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive
Tags
Green Green List (high evidence)
ABCA3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 3
Tags
Green Green List (high evidence)
ABCA4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Stargardt disease
Tags
Green Green List (high evidence)
ABCB11
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Cholestasis, progressive familial intrahepatic 2
Tags
Green Green List (high evidence)
ABCB4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Cholestasis, progressive familial intrahepatic 3
Tags
Green Green List (high evidence)
ABCC2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Dubin-Johnson syndrome, MIM# 237500
Tags
Green Green List (high evidence)
ABCC6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Pseudoxanthoma elasticum
Tags
  • SV/CNV
Green Green List (high evidence)
ABCC8
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hyperinsulinemic hypoglycemia, familial
Tags
Green Green List (high evidence)
ABCD1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Adrenoleukodystrophy
Tags
Green Green List (high evidence)
ABCG5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Sitosterolemia
Tags
Green Green List (high evidence)
ACAD8
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Isobutyryl-CoA dehydrogenase deficiency
Tags
Green Green List (high evidence)
ACAD9
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • ACAD9 deficiency
Tags
Green Green List (high evidence)
ACADM
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Medium chain acyl CoA dehydrogenase deficiency
Tags
Green Green List (high evidence)
ACADVL
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • VLCAD deficiency
Tags
Green Green List (high evidence)
ACAT1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Alpha-methylacetoacetic aciduria
Tags
Green Green List (high evidence)
ACE
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Renal tubular dysgenesis
Tags
Green Green List (high evidence)
ACOX1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Peroxisomal acyl-CoA oxidase deficiency
Tags
Green Green List (high evidence)
ACTG1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal dominant
  • Baraitser-Winter syndrome
Tags
Green Green List (high evidence)
ACTG2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome
Tags
Green Green List (high evidence)
ACTN1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Macrothrombocytopenia
Tags
Green Green List (high evidence)
ACTN4
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Glomerulosclerosis, focal segmental, 1
Tags
Green Green List (high evidence)
ACVR1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Fibrodysplasia ossificans progressiva
Tags
Green Green List (high evidence)
ACVRL1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 2
Tags
Green Green List (high evidence)
ADA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Severe combined immunodeficiency due to ADA deficiency
Tags
Green Green List (high evidence)
ADAMTS13
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Thrombotic thrombocytopenic purpura, familial
Tags
Green Green List (high evidence)
ADAMTSL2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Geleophysic dysplasia 1
Tags
Green Green List (high evidence)
ADAR
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Dyschromatosis symmetrica hereditaria
  • Aicardi-Goutieres syndrome
Tags
Green Green List (high evidence)
ADGRG1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Polymicrogyria, bilateral frontoparietal
Tags
Green Green List (high evidence)
ADGRV1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Usher syndrome, type 2C
Tags
Green Green List (high evidence)
ADK
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hypermethioninemia due to adenosine kinase deficiency
Tags
Green Green List (high evidence)
AGA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Aspartylglucosaminuria
Tags
Green Green List (high evidence)
AGL
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Glycogen storage disease IIIa
Tags
Green Green List (high evidence)
AGRN
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Myasthenia, limb-girdle, familial
Tags
Green Green List (high evidence)
AGXT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hyperoxaluria, primary, type 1
Tags
Green Green List (high evidence)
AHI1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Joubert syndrome-3
Tags
Green Green List (high evidence)
AIFM1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Cowchock syndrome
Tags
Green Green List (high evidence)
AIRE
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia
Tags
Green Green List (high evidence)
AKR1D1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Bile acid synthesis defect, congenital, 2
Tags
Green Green List (high evidence)
ALAS2
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Anemia, sideroblastic, X-linked
Tags
Green Green List (high evidence)
ALB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Analbuminemia
Tags
Green Green List (high evidence)
ALDH18A1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Cutis laxa, autosomal recessive, type IIIA
Tags
Green Green List (high evidence)
ALDH3A2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Sjogren-Larsson syndrome
Tags
Green Green List (high evidence)
ALDH5A1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Succinic semialdehyde dehydrogenase deficiency
Tags
Green Green List (high evidence)
ALDH7A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Epilepsy, pyridoxine-dependent, MIM# 266100
Tags
Green Green List (high evidence)
ALDOB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Fructose intolerance
Tags
Green Green List (high evidence)
ALG1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Ik
Tags
Green Green List (high evidence)
ALG12
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Ig
Tags
Green Green List (high evidence)
ALG3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Id
Tags
Green Green List (high evidence)
ALG6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Ic
Tags
Green Green List (high evidence)
ALG8
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Ih
Tags
Green Green List (high evidence)
ALG9
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Il, MIM#608776
  • Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210
Tags
Green Green List (high evidence)
ALMS1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Alstrom syndrome
Tags
Green Green List (high evidence)
ALOX12B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive
Tags
Green Green List (high evidence)
ALOXE3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive
Tags
Green Green List (high evidence)
ALPL
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hypophosphatasia
Tags
Green Green List (high evidence)
ALS2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Amyotrophic lateral sclerosis
Tags
Green Green List (high evidence)
ALX4
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Parietal foramina 2
Tags
Green Green List (high evidence)
AMELX
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Amelogenesis imperfecta
Tags
Green Green List (high evidence)
AMN
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Megaloblastic anemia-1, Norwegian type
Tags
Green Green List (high evidence)
AMT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hyperglycinaemia, non-ketotic
Tags
Green Green List (high evidence)
ANK1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Spherocytosis
Tags
Green Green List (high evidence)
ANK2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Green
Phenotypes
  • Complex neurodevelopmental disorder, MONDO:0100038
Tags
Green Green List (high evidence)
ANKH
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Craniometaphyseal dysplasia
Tags
Green Green List (high evidence)
ANKRD26
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Thrombocytopenia 2
Tags
  • 5'UTR
Green Green List (high evidence)
ANO10
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 10
Tags
Green Green List (high evidence)
ANTXR2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hyaline fibromatosis syndrome
Tags
Green Green List (high evidence)
AP3B1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hermansky-Pudlak syndrome 2
Tags
Green Green List (high evidence)
AP4B1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Spastic paraplegia 47, autosomal recessive, MIM# 614066
Tags
Green Green List (high evidence)
AP4E1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Spastic paraplegia 51, autosomal recessive, MIM# 613744
Tags
Green Green List (high evidence)
AP4M1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Spastic paraplegia 50, autosomal recessive, MIM# 612936
Tags
Green Green List (high evidence)
APC
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Adenomatous polyposis coli
  • Adenomatous polyposis coli, attenuated
Tags
Green Green List (high evidence)
APOB
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hypercholesterolaemia, familial, 2, MIM# 144010
  • Hypobetalipoproteinaemia 615558
Tags
Green Green List (high evidence)
APRT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Adenine phosphoribosyltransferase deficiency, MIM# 614723
Tags
Green Green List (high evidence)
APTX
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Tags
Green Green List (high evidence)
AR
2 reviews
2 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Androgen insensitivity, MIM# 300068
Tags
Green Green List (high evidence)
ARFGEF2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Periventricular heterotopia with microcephaly
Tags
Green Green List (high evidence)
ARG1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Arginase deficiency
Tags
Green Green List (high evidence)
ARID1B
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Coffin-Siris syndrome
Tags
Green Green List (high evidence)
ARMC4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Primary ciliary dyskinesia
Tags
Green Green List (high evidence)
ARSA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Metachromatic leukodystrophy
Tags
Green Green List (high evidence)
ARSB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Mucopolysaccharidosis type VI (Maroteaux-Lamy)
Tags
Green Green List (high evidence)
ARX
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Lissencephaly, X-linked 2
Tags
Green Green List (high evidence)
ASL
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Argininosuccinic aciduria
Tags
Green Green List (high evidence)
ASPA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Canavan disease
Tags
Green Green List (high evidence)
ASS1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Citrullinemia
Tags
Green Green List (high evidence)
ATM
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Ataxia-telangiectasia
Tags
Green Green List (high evidence)
ATP1A2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hemiplegic migraine
Tags
Green Green List (high evidence)
ATP2A1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Brody myopathy
Tags
Green Green List (high evidence)
ATP2B2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Deafness, childhood onset
Tags
Green Green List (high evidence)
ATP6V0A2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Cutis laxa, autosomal recessive, type IIA
Tags
Green Green List (high evidence)
ATP6V1B1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Renal tubular acidosis & hearing loss
Tags
Green Green List (high evidence)
ATP7A
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Menkes disease, MIM# 309400
Tags
Green Green List (high evidence)
ATP7B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Wilson disease
Tags
Green Green List (high evidence)
ATP8B1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Cholestasis, progressive familial intrahepatic 1
Tags
Green Green List (high evidence)
ATRX
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • ATR-X-related syndrome MONDO:0016980
Tags
Green Green List (high evidence)
AUH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • 3-methylglutaconic aciduria, type I
Tags
Green Green List (high evidence)
AVPR2
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Diabetes insipidus, nephrogenic
Tags
Green Green List (high evidence)
B3GLCT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Peters-Plus syndrome
Tags
Green Green List (high evidence)
BAAT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Bile acid amidation defect
Tags
Green Green List (high evidence)
BBS1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Bardet-Biedl syndrome
Tags
Green Green List (high evidence)
BBS10
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Bardet-Biedl syndrome
Tags
Green Green List (high evidence)
BBS12
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Bardet-Biedl syndrome
Tags
Green Green List (high evidence)
BBS2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Bardet-Biedl syndrome
Tags
Green Green List (high evidence)
BBS4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Bardet-Biedl syndrome
Tags
Green Green List (high evidence)
BBS5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Bardet-Biedl syndrome
Tags
Green Green List (high evidence)
BBS7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Bardet-Biedl syndrome
Tags
Green Green List (high evidence)
BBS9
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Bardet-Biedl syndrome
Tags
Green Green List (high evidence)
BCHE
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Butyrylcholinesterase deficiency, MIM# 617936
Tags
Green Green List (high evidence)
BCKDHA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Maple syrup urine disease
Tags
Green Green List (high evidence)
BCKDHB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Maple syrup urine disease
Tags
Green Green List (high evidence)
BCS1L
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Complex 3 deficiency
Tags
Green Green List (high evidence)
BICD2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Congenital spinal muscular atrophy
Tags
Green Green List (high evidence)
BIN1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Myopathy, centronuclear, autosomal recessive
Tags
Green Green List (high evidence)
BLM
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Bloom syndrome
Tags
Green Green List (high evidence)
BMPR1A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Polyposis, juvenile intestinal, MIM# 174900
Tags
Green Green List (high evidence)
BRAF
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Noonan syndrome 7, MIM# 613706
  • Cardiofaciocutaneous syndrome, MIM# 115150
Tags
Green Green List (high evidence)
BSCL2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Berardinelli-Seip lipodystrophy
  • Lipodystrophy, congenital generalized, type 2, MIM# 269700
Tags
Green Green List (high evidence)
BSND
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Bartter syndrome with sensorineural deafness
Tags
Green Green List (high evidence)
BTD
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Biotinidase deficiency
Tags
Green Green List (high evidence)
BTK
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Agammaglobulinemia, X-linked 1
Tags
Green Green List (high evidence)
CA2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Osteopetrosis, autosomal recessive 3, with renal tubular acidosis
Tags
Green Green List (high evidence)
CABP2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 93, MIM# 614899
Tags
Green Green List (high evidence)
CACNA1A
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Episodic ataxia, type 2
Tags
Green Green List (high evidence)
CACNA1F
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Night blindness, congenital stationary (complete), 1A, X-linked
Tags
Green Green List (high evidence)
CAPN3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2A
Tags
Green Green List (high evidence)
CARD11
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency 11A, MIM# 615206
Tags
Green Green List (high evidence)
CASK
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Mental retardation and microcephaly with pontine and cerebellar hypoplasia
Tags
Green Green List (high evidence)
CASQ2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic
Tags
Green Green List (high evidence)
CAV3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Muscular dystrophy, limb-girdle, type IC
  • Caveolinopathy
Tags
Green Green List (high evidence)
CAVIN1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Lipodystrophy, congenital generalized, type 4
Tags
Green Green List (high evidence)
CBL
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia
Tags
Green Green List (high evidence)
CBS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Homocystinuria, B6-responsive and nonresponsive types
Tags
Green Green List (high evidence)
CC2D2A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Joubert syndrome
Tags
Green Green List (high evidence)
CCDC39
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Primary ciliary dyskinesia
Tags
Green Green List (high evidence)
CCDC40
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Primary ciliary dyskinesia
Tags
Green Green List (high evidence)
CD3D
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency 19, MIM# 615617
Tags
Green Green List (high evidence)
CD40LG
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Immunodeficiency, X-linked, with hyper-IgM
Tags
Green Green List (high evidence)
CDAN1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Anemia, congenital dyserythropoietic, type I
Tags
Green Green List (high evidence)
CDC14A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 32, with or without immotile sperm, MIM# 608653
Tags
Green Green List (high evidence)
CDH23
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Usher syndrome, type 1D
  • Deafness, autosomal recessive
Tags
Green Green List (high evidence)
CDK5RAP2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Microcephaly 3, primary, autosomal recessive, MIM# 604804
  • MONDO:0011488
Tags
Green Green List (high evidence)
CDKL5
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Epileptic encephalopathy, early infantile, 2
Tags
Green Green List (high evidence)
CDKN1C
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Beckwith-Wiedemann syndrome
Tags
Green Green List (high evidence)
CDSN
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hypotrichosis
Tags
Green Green List (high evidence)
CDT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Meier-Gorlin syndrome 4, MIM# 613804
  • MONDO:0013431
Tags
Green Green List (high evidence)
CEP152
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Seckel syndrome
Tags
Green Green List (high evidence)
CEP290
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Joubert syndrome
Tags
Green Green List (high evidence)
CEP78
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cone-rod dystrophy and hearing loss
Tags
Green Green List (high evidence)
CEP83
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Nephronophthisis 18, MIM# 615862
  • MONDO:0014374
  • Retinal dystrophy
  • ID
Tags
Green Green List (high evidence)
CFC1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Congenital heart defects
Tags
Green Green List (high evidence)
CFL2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Nemaline myopathy
Tags
Green Green List (high evidence)
CFP
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Properdin deficiency, X-linked
Tags
Green Green List (high evidence)
CFTR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Cystic fibrosis
Tags
Green Green List (high evidence)
CHAT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Congenital myasthenic syndrome
Tags
Green Green List (high evidence)
CHD2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Developmental delay, intellectual disability, epilepsy
Tags
Green Green List (high evidence)
CHD7
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • CHARGE syndrome
Tags
Green Green List (high evidence)
CHKB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Muscular dystrophy, congenital, megaconial type
Tags
Green Green List (high evidence)
CHM
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Choroideremia
Tags
Green Green List (high evidence)
CHRNA1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Congenital myasthenic syndrome
Tags
Green Green List (high evidence)
CHRND
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Congenital myasthenic syndrome
Tags
Green Green List (high evidence)
CHRNE
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Congenital myasthenic syndrome
Tags
Green Green List (high evidence)
CHRNG
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Pterygium syndrome
Tags
Green Green List (high evidence)
CIB2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 48, MIM# 609439
Tags
Green Green List (high evidence)
CLCN5
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Dent disease
Tags
Green Green List (high evidence)
CLCN7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Osteopetrosis, autosomal recessive 4, MIM# 611490
Tags
Green Green List (high evidence)
CLDN14
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hearing loss, non-syndromic, autosomal recessive
Tags
Green Green List (high evidence)
CLDN19
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hypomagnesemia 5, renal, with ocular involvement
Tags
Green Green List (high evidence)
CLN3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 3
Tags
Green Green List (high evidence)
CLN5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 5
Tags
Green Green List (high evidence)
CLN6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 6
Tags
Green Green List (high evidence)
CLN8
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 8
Tags
Green Green List (high evidence)
CLPP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Perrault syndrome 3, MIM# 614129
Tags
Green Green List (high evidence)
CLRN1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Usher syndrome, type 3A
Tags
Green Green List (high evidence)
CNGB3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Achromatopsia-3
Tags
Green Green List (high evidence)
COCH
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal dominant 9, MIM# 601369
  • Deafness, autosomal recessive 110, MIM# 618094
Tags
Green Green List (high evidence)
COG5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type IIi
Tags
Green Green List (high evidence)
COL11A1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Stickler syndrome
Tags
Green Green List (high evidence)
COL11A2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Otospondylomegaepiphyseal dysplasia
Tags
Green Green List (high evidence)
COL17A1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa, junctional, non-Herlitz type
Tags
Green Green List (high evidence)
COL1A1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Osteogenesis imperfecta, type I
Tags
Green Green List (high evidence)
COL1A2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Osteogenesis imperfecta, type II
Tags
Green Green List (high evidence)
COL2A1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Stickler syndrome
Tags
Green Green List (high evidence)
COL3A1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Ehlers-Danlos syndrome, type IV
Tags
Green Green List (high evidence)
COL4A3
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Alport syndrome
Tags
Green Green List (high evidence)
COL4A4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Alport syndrome
Tags
Green Green List (high evidence)
COL4A5
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Alport syndrome
Tags
Green Green List (high evidence)
COL5A1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Ehlers-Danlos syndrome, type I
Tags
Green Green List (high evidence)
COL5A2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Ehlers-Danlos syndrome
Tags
Green Green List (high evidence)
COL6A1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Ullrich congenital muscular dystrophy
Tags
Green Green List (high evidence)
COL6A2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Ullrich congenital muscular dystrophy
Tags
Green Green List (high evidence)
COL6A3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Ullrich congenital muscular dystrophy
Tags
Green Green List (high evidence)
COL7A1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa dystrophica
Tags
Green Green List (high evidence)
COL9A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Stickler syndrome, type IV, MIM#614134
Tags
Green Green List (high evidence)
COL9A2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Stickler syndrome, type V, MIM# 614284
Tags
Green Green List (high evidence)
COL9A3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Stickler syndrome
Tags
Green Green List (high evidence)
COLQ
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Congenital myasthenic syndrome
Tags
Green Green List (high evidence)
CPS1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Carbamoylphosphate synthetase I deficiency
Tags
Green Green List (high evidence)
CPT1A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Carnitine palmitoyltransferase I deficiency
Tags
Green Green List (high evidence)
CPT2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Carnitine palmitoyltransferase 2 deficiency
Tags
Green Green List (high evidence)
CREBBP
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Rubinstein-Taybi syndrome
Tags
Green Green List (high evidence)
CRLF1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Crisponi syndrome
Tags
Green Green List (high evidence)
CRTAP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Osteogenesis imperfecta, type VII
Tags
Green Green List (high evidence)
CSF2RA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770
Tags
Green Green List (high evidence)
CSTB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Epilepsy, progressive myoclonic 1A
Tags
Green Green List (high evidence)
CTC1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Coats plus syndrome
Tags
Green Green List (high evidence)
CTNS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Cystinosis
Tags
Green Green List (high evidence)
CTSD
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 10
Tags
Green Green List (high evidence)
CTSK
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Pycnodysostosis
Tags
Green Green List (high evidence)
CUBN
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Megaloblastic anemia-1, Finnish type
Tags
Green Green List (high evidence)
CUL7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • 3-M syndrome
Tags
Green Green List (high evidence)
CYBA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Chronic granulomatous disease
Tags
Green Green List (high evidence)
CYBB
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Chronic granulomatous disease
Tags
Green Green List (high evidence)
CYP11A1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete
Tags
Green Green List (high evidence)
CYP11B1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency
Tags
Green Green List (high evidence)
CYP21A2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
Tags
Green Green List (high evidence)
CYP27A1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Cerebrotendinous xanthomatosis
Tags
Green Green List (high evidence)
CYP27B1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Vitamin D-dependent rickets, type I
Tags
Green Green List (high evidence)
CYP4F22
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive
Tags
Green Green List (high evidence)
D2HGDH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • D-2-hydroxyglutaric aciduria
Tags
Green Green List (high evidence)
DBT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Maple syrup urine disease
Tags
Green Green List (high evidence)
DCLRE1C
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Severe combined immunodeficiency, Athabascan type
Tags
Green Green List (high evidence)
DCX
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Lissencephaly, X-linked, MIM# 300067
Tags
Green Green List (high evidence)
DDB2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Xeroderma pigmentosum
Tags
Green Green List (high evidence)
DDC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Aromatic L-amino acid decarboxylase deficiency
Tags
Green Green List (high evidence)
DFNA5
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hearing loss
Tags
Green Green List (high evidence)
DFNB59
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hearing loss
Tags
Green Green List (high evidence)
DGUOK
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Mitochondrial DNA depletion syndrome
Tags
Green Green List (high evidence)
DHCR7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Smith-Lemli-Opitz syndrome
Tags
Green Green List (high evidence)
DIAPH1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal dominant 1, with or without thrombocytopenia MIM#124900
Tags
Green Green List (high evidence)
DLD
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Maple syrup urine disease, type III
Tags
Green Green List (high evidence)
DLL3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Spondylocostal dysostosis, autosomal recessive, 1
Tags
Green Green List (high evidence)
DMP1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hypophosphatemic rickets, AR
Tags
Green Green List (high evidence)
DMPK
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Myotonic dystrophy 1
Tags
Green Green List (high evidence)
DMXL2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Developmental and epileptic encephalopathy 81, MIM#618663
Tags
Green Green List (high evidence)
DNAAF1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Primary ciliary dyskinesia
Tags
Green Green List (high evidence)
DNAH11
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Primary ciliary dyskinesia
Tags
Green Green List (high evidence)
DNAH5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Primary ciliary dyskinesia
Tags
Green Green List (high evidence)
DNAI1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Primary ciliary dyskinesia
Tags
Green Green List (high evidence)
DNAJB6
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Muscular dystrophy, limb girdle
Tags
Green Green List (high evidence)
DNM2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Myopathy, centronuclear
  • Charcot-Marie-Tooth disease, axonal, type 2M
Tags
Green Green List (high evidence)
DNMT3B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 1
Tags
Green Green List (high evidence)
DOCK8
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hyper-IgE syndrome
Tags
Green Green List (high evidence)
DOK7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Congenital myasthenic syndrome
Tags
Green Green List (high evidence)
DOLK
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • DK1-CDG, MONDO:0012556
  • Congenital disorder of glycosylation, type Im, MIM# 610768
Tags
Green Green List (high evidence)
DPAGT1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Ij
Tags
Green Green List (high evidence)
DUOX2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Thyroid dyshormonogenesis
Tags
Green Green List (high evidence)
DUOXA2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Thyroid dyshormonogenesis 5, MIM# 274900
Tags
Green Green List (high evidence)
DYSF
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Miyoshi muscular dystrophy 1
  • Muscular dystrophy, limb-girdle, type 2B
Tags
Green Green List (high evidence)
EDA
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia, hypohidrotic
Tags
Green Green List (high evidence)
EDAR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia, hypohidrotic
Tags
Green Green List (high evidence)
EDARADD
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia, hypohidrotic
Tags
Green Green List (high evidence)
EDN3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Waardenburg syndrome
Tags
Green Green List (high evidence)
EDNRB
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Waardenburg syndrome, type 4A, MIM# 277580
Tags
Green Green List (high evidence)
EFTUD2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Mandibulofacial dysostosis with microcephaly
Tags
Green Green List (high evidence)
EGR2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Charcot-Marie-Tooth disease
Tags
Green Green List (high evidence)
EIF2AK3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Wolcott-Rallison syndrome
Tags
Green Green List (high evidence)
ELANE
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Neutropenia, congenital
Tags
Green Green List (high evidence)
ELN
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Supravalvar aortic stenosis
Tags
Green Green List (high evidence)
ELP1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Dysautonomia, familial
Tags
Green Green List (high evidence)
EMD
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Muscular dystrophy, Emery-Dreifuss
Tags
Green Green List (high evidence)
ENG
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 1
Tags
Green Green List (high evidence)
ENPP1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Arterial calcification, generalized, of infancy, 1
Tags
Green Green List (high evidence)
EPM2A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Epilepsy, progressive myoclonic 2A (Lafora)
Tags
Green Green List (high evidence)
EPS8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • deafness MIM#600205
Tags
Green Green List (high evidence)
EPS8L2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Deafness, MIM#617637
Tags
Green Green List (high evidence)
ERCC2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Xeroderma pigmentosum
Tags
Green Green List (high evidence)
ERCC5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Xeroderma pigmentosum
Tags
Green Green List (high evidence)
ERCC6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Cockayne syndrome
Tags
Green Green List (high evidence)
ERCC8
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Cockayne syndrome
Tags
Green Green List (high evidence)
ESCO2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Roberts syndrome
Tags
Green Green List (high evidence)
ESPN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 36, MIM# 609006
Tags
Green Green List (high evidence)
ESRRB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hearing loss
Tags
Green Green List (high evidence)
ETFA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Glutaric acidemia IIA
Tags
Green Green List (high evidence)
ETFB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Glutaric acidemia IIB
Tags
Green Green List (high evidence)
ETFDH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Glutaric acidemia IIC
Tags
Green Green List (high evidence)
ETHE1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Ethylmalonic encephalopathy
Tags
Green Green List (high evidence)
EVC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Ellis-van Creveld syndrome
Tags
Green Green List (high evidence)
EVC2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Ellis-van Creveld syndrome
Tags
Green Green List (high evidence)
EXT1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Exostoses, multiple, type 1
Tags
Green Green List (high evidence)
EXT2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Exostoses, multiple, type 2
Tags
Green Green List (high evidence)
EYA1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Branchiootorenal syndrome
Tags
Green Green List (high evidence)
EYA4
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal dominant
Tags
Green Green List (high evidence)
EZH2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Weaver syndrome 2
Tags
Green Green List (high evidence)
F10
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Factor X deficiency, MIM# 227600
Tags
Green Green List (high evidence)
F11
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Factor XI deficiency
Tags
Green Green List (high evidence)
F13A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Factor XIIIA deficiency, MIM# 613225
Tags
Green Green List (high evidence)
F2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Prothrombin deficiency
Tags
Green Green List (high evidence)
F5
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Factor V deficiency MIM# 227400
  • Thrombophilia due to activated protein C resistance MIM# 188055
Tags
Green Green List (high evidence)
F7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Factor VII deficiency MIM# 227500
Tags
Green Green List (high evidence)
F8
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hemophilia A
Tags
Green Green List (high evidence)
F9
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hemophilia B
Tags
Green Green List (high evidence)
FAH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Tyrosinemia, type I
Tags
Green Green List (high evidence)
FAM126A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hypomyelination and congenital cataract
Tags
Green Green List (high evidence)
FAM161A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Retinal dystrophy
Tags
Green Green List (high evidence)
FAM20C
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Osteosclerotic bone dysplasia
Tags
Green Green List (high evidence)
FAM58A
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Syndactyly - telecanthus - anogenital and renal malformations
Tags
Green Green List (high evidence)
FANCA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Fanconi anaemia
Tags
Green Green List (high evidence)
FANCB
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Fanconi anaemia
Tags
Green Green List (high evidence)
FANCC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Fanconi anaemia
Tags
Green Green List (high evidence)
FANCD2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Fanconi anaemia
Tags
Green Green List (high evidence)
FANCG
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Fanconi anaemia
Tags
Green Green List (high evidence)
FANCI
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Fanconi anaemia
Tags
Green Green List (high evidence)
FBN1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Marfan's syndrome
  • Weill-Marchesani syndrome 2, dominant
  • Shprintzen-Goldberg syndrome
Tags
Green Green List (high evidence)
FBN2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Contractural arachnodactyly, congenital MIM#121050
Tags
Green Green List (high evidence)
FBP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Fructose-1,6-bisphosphatase deficiency MIM# 229700
Tags
Green Green List (high evidence)
FGA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Afibrinogenaemia
Tags
Green Green List (high evidence)
FGB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Afibrinogenaemia
Tags
Green Green List (high evidence)
FGD1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Aarskog-Scott syndrome
Tags
Green Green List (high evidence)
FGD4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Charcot-Marie-Tooth disease
Tags
Green Green List (high evidence)
FGF3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, congenital with inner ear agenesis, microtia, and microdontia
Tags
Green Green List (high evidence)
FGFR1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Kallmann syndrome
Tags
Green Green List (high evidence)
FGFR2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Beare-Stevenson cutis gyrata syndrome
  • Crouzon syndrome
  • Apert syndrome
  • Pfeiffer syndrome
  • Jackson-Weiss syndrome
Tags
Green Green List (high evidence)
FGFR3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Crouzon syndrome with acanthosis nigricans
  • Achondroplasia
  • Muenke syndrome
  • CATSHL syndrome
  • Thanatophoric dysplasia type 1
  • LADD syndrome
  • Hypochondroplasia
Tags
Green Green List (high evidence)
FGG
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Afibrinogenaemia
Tags
Green Green List (high evidence)
FH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Fumurase deficiency MIM# 606812
Tags
Green Green List (high evidence)
FKRP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Muscle-eye-brain disease
  • Muscular dystrophy, limb girdle 2I
Tags
Green Green List (high evidence)
FKTN
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies
  • Muscular dystrophy, Fukuyama
Tags
Green Green List (high evidence)
FLCN
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Birt-Hogg-Dube syndrome
Tags
Green Green List (high evidence)
FLNA
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Otopalatodigital spectrum disorder
Tags
Green Green List (high evidence)
FOXC1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Axenfeld-Rieger syndrome
Tags
Green Green List (high evidence)
FOXC2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Lymphoedema, primary
Tags
Green Green List (high evidence)
FOXF1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Alveolar capillary dysplasia with misalignment of pulmonary veins
Tags
Green Green List (high evidence)
FOXI1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • sensorineural deafness and distal renal tubular acidosis
Tags
Green Green List (high evidence)
FOXP3
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • IPEX syndrome
Tags
Green Green List (high evidence)
FRAS1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Fraser syndrome
Tags
Green Green List (high evidence)
FTL
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Neuroferritinopathy
Tags
Green Green List (high evidence)
FUCA1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Fucosidosis
Tags
Green Green List (high evidence)
FXN
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Friedreich ataxia
Tags
Green Green List (high evidence)
G6PC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Glycogen storage disease Ia
Tags
Green Green List (high evidence)
G6PC3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Neutropaenia, congenital
Tags
Green Green List (high evidence)
G6PD
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Glucose-6-phosphate dehydrogenase deficiency
Tags
Green Green List (high evidence)
GAA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Glycogen storage disease II
Tags
Green Green List (high evidence)
GALC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Krabbe disease
Tags
Green Green List (high evidence)
GALK1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Galactokinase deficiency with cataracts
Tags
Green Green List (high evidence)
GALNS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Mucopolysaccharidosis IVA
Tags
Green Green List (high evidence)
GALT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Galactosaemia
Tags
Green Green List (high evidence)
GAN
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Giant axonal neuropathy
Tags
Green Green List (high evidence)
GATA2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency 21 MIM# 614172
  • Emberger syndrome MIM# 614038
Tags
Green Green List (high evidence)
GATA3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255
Tags
Green Green List (high evidence)
GATA4
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Congenital heart defects
Tags
Green Green List (high evidence)
GBA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Gaucher disease 1
Tags
Green Green List (high evidence)
GCDH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Glutaricaciduria, type I
Tags
Green Green List (high evidence)
GCK
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hyperinsulinemic hypoglycemia, familial
Tags
Green Green List (high evidence)
GDAP1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Charcot-Marie-Tooth disease
Tags
Green Green List (high evidence)
GFAP
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Alexander disease
Tags
Green Green List (high evidence)
GFM1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Combined oxidative phosphorylation deficiency 1
Tags
Green Green List (high evidence)
GFPT1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Congenital myasthenic syndrome, limb-girdle
Tags
Green Green List (high evidence)
GGCX
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Vitamin K-dependent clotting factors, combined deficiency of, 1 MIM# 277450
Tags
Green Green List (high evidence)
GIF
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Intrinsic factor deficiency # 261000
Tags
Green Green List (high evidence)
GIPC3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hearing loss
Tags
Green Green List (high evidence)
GJA1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Oculodentodigital dysplasia
Tags
Green Green List (high evidence)
GJB1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Charcot-Marie-Tooth neuropathy
Tags
Green Green List (high evidence)
GJB2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness
  • Deafness and palmoplantar keratoderma
Tags
Green Green List (high evidence)
GJC2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Pelizaeus-Merzbacher-like disease
Tags
Green Green List (high evidence)
GLA
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Fabry disease
Tags
Green Green List (high evidence)
GLB1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Gangliosidosis GM1
Tags
Green Green List (high evidence)
GLDC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Glycine encephalopathy
Tags
Green Green List (high evidence)
GLI3
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Greig cephalopolysyndactyly syndrome
Tags
Green Green List (high evidence)
GLRA1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hyperekplexia, hereditary 1, autosomal dominant or recessive
Tags
Green Green List (high evidence)
GLUD1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hyperinsulinism
Tags
Green Green List (high evidence)
GNAS
0 reviews
 Unknown
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Pseudopseudohypoparathyroidism
  • Pseudohypoparathyroidism
Tags
Green Green List (high evidence)
GNE
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Inclusion body myopathy
Tags
Green Green List (high evidence)
GNPTAB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Mucolipidosis II
Tags
Green Green List (high evidence)
GNPTG
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Mucolipidosis III gamma
Tags
Green Green List (high evidence)
GNS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Mucopolysaccharidosis IIId
Tags
Green Green List (high evidence)
GPC3
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Simpson-Golabi-Behmel syndrome
Tags
Green Green List (high evidence)
GPR143
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Ocular albinism, type I
Tags
Green Green List (high evidence)
GPSM2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Chudley-McCullough syndrome
Tags
Green Green List (high evidence)
GRHL2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Autosomal dominant hearing loss, MIM# 608641
Tags
Green Green List (high evidence)
GRHPR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hyperoxaluria, primary, type II
Tags
Green Green List (high evidence)
GRXCR1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 25, MIM# 613285
Tags
Green Green List (high evidence)
GSS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Glutathione synthetase deficiency
Tags
Green Green List (high evidence)
GUSB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Mucopolysaccharidosis VII
Tags
Green Green List (high evidence)
GYS2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Glycogen storage disease 0
Tags
Green Green List (high evidence)
HADH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Hyperinsulinemic hypoglycemia, familial, 4
Tags
Green Green List (high evidence)
HADHA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Mitochondrial trifunctional protein deficiency
Tags
Green Green List (high evidence)
HADHB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Mitochondrial trifunctional protein deficiency
Tags
Green Green List (high evidence)
HARS2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Perrault syndrome
  • autosomal recessive sensorineural hearing loss
Tags
Green Green List (high evidence)
HBA1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Thalassaemia alpha
Tags
Green Green List (high evidence)
HBA2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Thalassemia, alpha
Tags
Green Green List (high evidence)
HBB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Beta-thalassemia
Tags
Green Green List (high evidence)
HDAC8
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Cornelia de Lange syndrome-like features, ocular hypertelorism & large fontanelle
Tags
Green Green List (high evidence)
HEXA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Tay-Sachs disease
Tags
Green Green List (high evidence)
HEXB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Sandhoff disease, infantile, juvenile, and adult forms
Tags
Green Green List (high evidence)
HGD
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Alkaptonuria
Tags
Green Green List (high evidence)
HGF
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive
Tags
Green Green List (high evidence)
HGSNAT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Mucopolysaccharidosis IIIC
Tags
Green Green List (high evidence)
HINT1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Axonal neuropathy with neuromyotonia
Tags
Green Green List (high evidence)
HLCS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Holocarboxylase synthetase deficiency
Tags
Green Green List (high evidence)
HMGCL
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • 3-hydroxy-3-methylglutaric aciduria
Tags
Green Green List (high evidence)
HNF4A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Hypoglycaemia, hyperinsulinaemic
Tags
Green Green List (high evidence)
HOMER2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Autosomal dominant non syndromic deafness
Tags
Green Green List (high evidence)
HPRT1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Lesch-Nyhan syndrome 1
Tags
Green Green List (high evidence)
HPS1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hermansky-Pudlak syndrome 1
Tags
Green Green List (high evidence)
HPS3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hermansky-Pudlak syndrome 3
Tags
Green Green List (high evidence)
HPS4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hermansky-Pudlak syndrome 4
Tags
Green Green List (high evidence)
HPS5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hermansky-Pudlak syndrome 5
Tags
Green Green List (high evidence)
HRAS
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Costello syndrome
Tags
Green Green List (high evidence)
HSD17B10
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • 17-beta-hydroxysteroid dehydrogenase X deficiency
Tags
Green Green List (high evidence)
HSD17B3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Pseudohermaphroditism, male, with gynecomastia
Tags
Green Green List (high evidence)
HSD17B4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • D-bifunctional protein deficiency
Tags
Green Green List (high evidence)
HSD3B2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency MIM# 201810
Tags
Green Green List (high evidence)
HSD3B7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • 3 beta-hydroxysteroid dehydrogenase deficiency
Tags
Green Green List (high evidence)
HSPB8
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2L
Tags
Green Green List (high evidence)
HSPG2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Schwartz-Jampel syndrome
Tags
Green Green List (high evidence)
HTRA1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • CARASIL syndrome
Tags
Green Green List (high evidence)
IDS
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Mucopolysaccharidosis II
Tags
Green Green List (high evidence)
IDUA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Mucopolysaccharidosis Ih
Tags
Green Green List (high evidence)
IGHMBP2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Spinal muscular atrophy with respiratory distress
Tags
Green Green List (high evidence)
IGSF1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Central hypothyroidism and testicular enlargement
Tags
Green Green List (high evidence)
IKBKG
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Incontinentia pigmenti 1
Tags
Green Green List (high evidence)
IL10RA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Inflammatory bowel disease
Tags
Green Green List (high evidence)
IL2RG
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Severe combined immunodeficiency, X-linked
Tags
Green Green List (high evidence)
IL7R
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM#608971
Tags
Green Green List (high evidence)
ILDR1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive
Tags
Green Green List (high evidence)
INS
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Diabetes mellitus, permanent neonatal MIM# 618858Permanent neonatal diabetes mellitus-4 (PNDM4) is characterized by chronic hyperglycemia due to severe nonautoimmune insulin deficiency diagnosed in the first months of life
Tags
Green Green List (high evidence)
INSR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Leprechaunism
Tags
Green Green List (high evidence)
INVS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Nephronophthisis 2
Tags
Green Green List (high evidence)
IQCB1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Senior-Loken syndrome 5
Tags
Green Green List (high evidence)
IRF6
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • van der Woude syndrome MIM# 119300
Tags
Green Green List (high evidence)
ISPD
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Tags
Green Green List (high evidence)
ITGA3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital
Tags
Green Green List (high evidence)
ITGB4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa, junctional, with pyloric atresia
Tags
Green Green List (high evidence)
IVD
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Isovaleric acidemia
Tags
Green Green List (high evidence)
IYD
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Thyroid dyshormonogenesis 4, MIM# 274800
Tags
Green Green List (high evidence)
JAG1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Alagille syndrome
Tags
Green Green List (high evidence)
JAK3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • SCID, autosomal recessive, T-negative/B-positive type
Tags
Green Green List (high evidence)
KANSL1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Koolen-De Vries syndrome
Tags
Green Green List (high evidence)
KARS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • deafness with progressive leukodystrophy
Tags
Green Green List (high evidence)
KAT6B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • SBBYSS syndrome MIM #603736
  • Genitopatellar syndrome MIM #606170
Tags
Green Green List (high evidence)
KBTBD13
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Nemaline myopathy
Tags
Green Green List (high evidence)
KCNA1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Episodic ataxia type 1
Tags
Green Green List (high evidence)
KCNJ1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Bartter syndrome
Tags
Green Green List (high evidence)
KCNJ11
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hyperinsulinemic hypoglycemia, familial
Tags
Green Green List (high evidence)
KCNJ2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Andersen cardiodysrhythmic periodic paralysis
Tags
Green Green List (high evidence)
KCNQ4
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal dominant
Tags
Green Green List (high evidence)
KCTD7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Epilepsy, progressive myoclonic
Tags
Green Green List (high evidence)
KDM6A
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Kabuki syndrome 2
Tags
Green Green List (high evidence)
KIF21A
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Fibrosis of extraocular muscles, congenital
Tags
Green Green List (high evidence)
KIT
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Piebaldism
Tags
Green Green List (high evidence)
KLF1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Dyserythropoietic anaemia, congenital, type IV, MIM# 613673
  • MONDO:0013355
Tags
Green Green List (high evidence)
KLHL40
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Nemaline myopathy
Tags
Green Green List (high evidence)
KLHL41
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Nemaline myopathy
Tags
Green Green List (high evidence)
KMT2D
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Kabuki syndrome 1
Tags
Green Green List (high evidence)
KRAS
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Noonan syndrome
Tags
Green Green List (high evidence)
KRT14
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa simplex
Tags
Green Green List (high evidence)
KRT16
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Pachyonychia congenita
Tags
Green Green List (high evidence)
KRT17
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Pachyonychia congenita
Tags
Green Green List (high evidence)
KRT5
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa simplex
Tags
Green Green List (high evidence)
KRT6A
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Pachyonychia congenita
Tags
Green Green List (high evidence)
L1CAM
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • X-linked hydrocephalus syndrome
Tags
Green Green List (high evidence)
LAMA2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Muscular dystrophy, congenital merosin-deficient
Tags
Green Green List (high evidence)
LAMA3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa, junctional
Tags
Green Green List (high evidence)
LAMB2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Pierson syndrome
Tags
Green Green List (high evidence)
LAMB3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa, junctional
Tags
Green Green List (high evidence)
LAMC2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa, junctional
Tags
Green Green List (high evidence)
LAMP2
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Danon disease
Tags
Green Green List (high evidence)
LARGE1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Walker-Warburg syndrome
Tags
Green Green List (high evidence)
LARS2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Perrault syndrome
Tags
Green Green List (high evidence)
LDLR
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hypercholesterolemia
Tags
Green Green List (high evidence)
LEPR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Obesity, morbid, due to leptin receptor deficiency
Tags
Green Green List (high evidence)
LHFPL5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive
Tags
Green Green List (high evidence)
LHX3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Pituitary hormone deficiency, combined
Tags
Green Green List (high evidence)
LIFR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Stuve-Wiedemann syndrome
Tags
Green Green List (high evidence)
LIG4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Severe combined immunodeficiency with sensitivity to ionizing radiation
Tags
Green Green List (high evidence)
LIPA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Wolman syndrome
Tags
Green Green List (high evidence)
LITAF
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Charcot-Marie-Tooth disease
Tags
Green Green List (high evidence)
LMBRD1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Methylmalonic aciduria and homocystinuria
Tags
Green Green List (high evidence)
LMOD3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Nemaline myopathy
Tags
Green Green List (high evidence)
LMX1B
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Nail patella syndrome
Tags
Green Green List (high evidence)
LOXHD1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive
Tags
Green Green List (high evidence)
LRP2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Donnai-Barrow syndrome
Tags
Green Green List (high evidence)
LRP4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Cenani-Lenz syndactyly syndrome
Tags
Green Green List (high evidence)
LRP5
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Osteopetrosis, autosomal dominant
  • Osteoporosis-pseudoglioma syndrome
Tags
Green Green List (high evidence)
LRPPRC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Leigh syndrome
Tags
Green Green List (high evidence)
LRRC6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Primary ciliary dyskinesia
Tags
Green Green List (high evidence)
LRSAM1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Charcot-Marie-Tooth disease
Tags
Green Green List (high evidence)
LRTOMT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive
Tags
Green Green List (high evidence)
LTBP4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Cutis laxa, autosomal recessive, type IC
Tags
Green Green List (high evidence)
LYST
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Chediak-Higashi syndrome
Tags
Green Green List (high evidence)
MAFB
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Multicentric carpotarsal osteolysis syndrome
Tags
Green Green List (high evidence)
MAGI2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Infantile spasms
Tags
Green Green List (high evidence)
MAN2B1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Mannosidosis, alpha
Tags
Green Green List (high evidence)
MAP2K1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Cardiofaciocutaneous syndrome
Tags
Green Green List (high evidence)
MAP2K2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Cardiofaciocutaneous syndrome
Tags
Green Green List (high evidence)
MARVELD2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive
Tags
Green Green List (high evidence)
MBTPS2
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Ichthyosis follicularis, alopecia & photophobia
Tags
Green Green List (high evidence)
MCFD2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Factor V and Factor VIII deficiency, combined
Tags
Green Green List (high evidence)
MCOLN1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Mucolipidosis IV
Tags
Green Green List (high evidence)
MCPH1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Microcephaly 1, primary, autosomal recessive
Tags
Green Green List (high evidence)
MECP2
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Rett syndrome
Tags
Green Green List (high evidence)
MED12
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Intellectual disability
Tags
Green Green List (high evidence)
MED25
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449
  • Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643
Tags
Green Green List (high evidence)
MEFV
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Mediterranean fever, familial
Tags
Green Green List (high evidence)
MEGF10
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Myopathy, areflexia, respiratory distress, and dysphagia, early-onset
Tags
Green Green List (high evidence)
MEN1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Multiple endocrine neoplasia I
Tags
Green Green List (high evidence)
MFN2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Charcot-Marie-Tooth disease
Tags
Green Green List (high evidence)
MFSD8
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Ceroid lipofuscinosis, neuronal
Tags
Green Green List (high evidence)
MGAT2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type IIa, MIM# 212066
  • MGAT2-CDG, MONDO:0008908
Tags
Green Green List (high evidence)
MGP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Keutel syndrome
Tags
Green Green List (high evidence)
MITF
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Waardenburg syndrome
Tags
Green Green List (high evidence)
MKKS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Bardet-Biedl syndrome
Tags
Green Green List (high evidence)
MKS1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Meckel syndrome
Tags
Green Green List (high evidence)
MLC1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Megalencephalic leukoencephalopathy
Tags
Green Green List (high evidence)
MLYCD
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Malonyl-CoA decarboxylase deficiency
Tags
Green Green List (high evidence)
MMAA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Methylmalonic aciduria, vitamin B12-responsive
Tags
Green Green List (high evidence)
MMAB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type
Tags
Green Green List (high evidence)
MMACHC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblC type
Tags
Green Green List (high evidence)
MMADHC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblD type
Tags
Green Green List (high evidence)
MOCS1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Molybdenum cofactor deficiency
Tags
Green Green List (high evidence)
MOCS2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Molybdenum cofactor deficiency
Tags
Green Green List (high evidence)
MPDU1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type If, MIM# 609180
  • MPDU1-CDG, MONDO:0012211
Tags
Green Green List (high evidence)
MPI
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation 1b
Tags
Green Green List (high evidence)
MPL
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Amegakaryocytic thrombocytopaenia, congenital
Tags
Green Green List (high evidence)
MPV17
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Mitochondrial DNA depletion syndrome, hepatic
Tags
Green Green List (high evidence)
MPZ
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Charcot-Marie-Tooth disease
Tags
Green Green List (high evidence)
MSX2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Parietal foramina 1
Tags
Green Green List (high evidence)
MTM1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Myotubular myopathy, X-linked
Tags
Green Green List (high evidence)
MTR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Methylmalonic aciduria and homocystinuria
Tags
Green Green List (high evidence)
MTRR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Methylmalonic aciduria and homocystinuria
Tags
Green Green List (high evidence)
MTTP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Abetalipoproteinaemia
Tags
Green Green List (high evidence)
MUSK
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Congenital myasthenic syndrome
Tags
Green Green List (high evidence)
MUT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Methylmalonic aciduria, mut(0) type
Tags
Green Green List (high evidence)
MUTYH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • MUTYH-associated polyposis
Tags
Green Green List (high evidence)
MVK
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hyperimmunoglobulin D and periodic fever syndrome
Tags
Green Green List (high evidence)
MYBPC1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Arthrogryposis, distal, type 1B 614335
  • Lethal congenital contracture syndrome 4, MIM# 614915
  • Myopathy, congenital, with tremor MIM#618524
Tags
Green Green List (high evidence)
MYCN
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Feingold syndrome
Tags
Green Green List (high evidence)
MYH14
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal dominant
Tags
Green Green List (high evidence)
MYH2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Proximal myopathy and ophthalmoplegia
Tags
Green Green List (high evidence)
MYH3
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Arthrogryposis, distal
Tags
Green Green List (high evidence)
MYH7
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • BabySeq Category B gene
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Cardiomyopathy, hypertrophic, 1, OMIM:192600
  • Laing early-onset distal myopathy, MONDO:0008050
  • Left ventricular noncompaction 5, OMIM:613426
  • Cardiomyopathy, dilated, 1S, OMIM:613426
  • Hypertrophic cardiomyopathy 1, MONDO:0008647
  • Laing distal myopathy, OMIM:160500
  • Dilated cardiomyopathy 1S, MONDO:0013262
Tags
Green Green List (high evidence)
MYH9
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Macrothrombocytopenia and progressive sensorineural deafness
Tags
Green Green List (high evidence)
MYO15A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Sensorineural hearing loss
Tags
Green Green List (high evidence)
MYO3A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Sensorineural hearing loss
Tags
Green Green List (high evidence)
MYO6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness
Tags
Green Green List (high evidence)
MYO7A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Usher syndrome
Tags
Green Green List (high evidence)
NAGA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • N-acetylgalactosaminidase alpha deficiency
Tags
Green Green List (high evidence)
NAGLU
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Sanfilippo syndrome type B
Tags
Green Green List (high evidence)
NAGS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • N-acetylglutamate synthetase deficiency
Tags
Green Green List (high evidence)
NBN
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Nijmegen breakage syndrome
Tags
Green Green List (high evidence)
NCF1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Chronic granulomatous disease
Tags
Green Green List (high evidence)
NCF2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Chronic granulomatous disease
Tags
Green Green List (high evidence)
NDP
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Norrie disease
Tags
Green Green List (high evidence)
NEB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Nemaline myopathy
Tags
Green Green List (high evidence)
NEFL
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Charcot-Marie-Tooth disease
Tags
Green Green List (high evidence)
NEK1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520
Tags
Green Green List (high evidence)
NEK8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Renal-hepatic-pancreatic dysplasia 2, MIM# 615415
  • MONDO:0014174
Tags
Green Green List (high evidence)
NEU1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Sialidosis
Tags
Green Green List (high evidence)
NEUROG3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Diarrhoea 4, malabsorptive, congenital, MIM# 610370
Tags
Green Green List (high evidence)
NF1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Neurofibromatosis, type 1
Tags
Green Green List (high evidence)
NF2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Neurofibromatosis 2
Tags
Green Green List (high evidence)
NGLY1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Developmental delay, multifocal epilepsy & abnormal liver function
Tags
Green Green List (high evidence)
NHEJ1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
Tags
Green Green List (high evidence)
NHLRC1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Myoclonic epilepsy of Lafora
Tags
Green Green List (high evidence)
NIPAL4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Ichthyosis, autosomal recessive
Tags
Green Green List (high evidence)
NIPBL
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Cornelia de Lange syndrome
Tags
Green Green List (high evidence)
NKX2-1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Choreoathetosis, hypothyroidism, and neonatal respiratory distress
Tags
Green Green List (high evidence)
NOG
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Symphalangism, proximal, 1A
Tags
Green Green List (high evidence)
NOTCH2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hajdu-Cheney syndrome
Tags
Green Green List (high evidence)
NOTCH3
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
Tags
Green Green List (high evidence)
NPC1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Niemann-Pick disease type C1
Tags
Green Green List (high evidence)
NPC2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Niemann-Pick disease type C2
Tags
Green Green List (high evidence)
NPHP1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Nephronophthisis
Tags
Green Green List (high evidence)
NPHP3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Nephronophthisis
Tags
Green Green List (high evidence)
NPHP4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Nephronophthisis
Tags
Green Green List (high evidence)
NPHS1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Congenital nephrotic syndrome, Finnish type
Tags
Green Green List (high evidence)
NR0B1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Congenital adrenal hypoplasia
Tags
Green Green List (high evidence)
NSD1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Sotos syndrome
Tags
Green Green List (high evidence)
NTRK1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Congenital insensitivity to pain with anhidrosis MIM#256800
Tags
Green Green List (high evidence)
OBSL1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • 3-M syndrome
Tags
Green Green List (high evidence)
OCA2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Albinism, oculocutaneous
Tags
Green Green List (high evidence)
OCRL
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Lowe oculocerebrorenal syndrome
Tags
Green Green List (high evidence)
OFD1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Oral-facial-digital syndrome
Tags
Green Green List (high evidence)
OPA1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Optic atrophy 1
Tags
Green Green List (high evidence)
ORC1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Meier-Gorlin syndrome
Tags
Green Green List (high evidence)
OSMR
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Amyloidosis, primary cutaneous
Tags
Green Green List (high evidence)
OSTM1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Osteopetrosis
Tags
Green Green List (high evidence)
OTC
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Ornithine transcarbamylase deficiency
Tags
Green Green List (high evidence)
OTOA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive
Tags
Green Green List (high evidence)
OTOF
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive
Tags
Green Green List (high evidence)
OTOGL
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive
Tags
Green Green List (high evidence)
P2RY12
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Bleeding disorder, platelet-type, 8, MIM# 609821
  • MONDO:0012354
Tags
Green Green List (high evidence)
PAH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Phenylketonuria
Tags
Green Green List (high evidence)
PAK3
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Mental retardation syndrome, X-linked
Tags
Green Green List (high evidence)
PALB2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Fanconi anemia, complementation group N, MIM# 610832
Tags
Green Green List (high evidence)
PANK2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Neurodegeneration with brain iron accumulation 1
Tags
Green Green List (high evidence)
PAX3
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Waardenburg syndrome
Tags
Green Green List (high evidence)
PAX6
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Aniridia
Tags
Green Green List (high evidence)
PAX8
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia
Tags
Green Green List (high evidence)
PC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Pyruvate carboxylase deficiency
Tags
Green Green List (high evidence)
PCCA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Propionicacidemia
Tags
Green Green List (high evidence)
PCCB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Propionicacidemia
Tags
Green Green List (high evidence)
PCDH15
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Usher syndrome
Tags
Green Green List (high evidence)
PCNT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Microcephalic osteodysplastic primordial dwarfism type 2
Tags
Green Green List (high evidence)
PDE4D
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Acrodysostosis 2, with or without hormone resistance
Tags
Green Green List (high evidence)
PDHA1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Pyruvate dehydrogenase deficiency
Tags
Green Green List (high evidence)
PDHX
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Pyruvate dehydrogenase complex deficiency
Tags
Green Green List (high evidence)
PDX1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Pancreatic agenesis, MIM# # 260370
Tags
Green Green List (high evidence)
PDZD7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Usher syndrome
Tags
Green Green List (high evidence)
PEX1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Zellweger syndrome
Tags
Green Green List (high evidence)
PEX10
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Zellweger syndrome
Tags
Green Green List (high evidence)
PEX12
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Zellweger syndrome
Tags
Green Green List (high evidence)
PEX13
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Zellweger syndrome
Tags
Green Green List (high evidence)
PEX2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Zellweger syndrome
Tags
Green Green List (high evidence)
PEX26
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Zellweger syndrome
Tags
Green Green List (high evidence)
PEX3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Zellweger syndrome
Tags
Green Green List (high evidence)
PEX5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Zellweger syndrome
Tags
Green Green List (high evidence)
PEX6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Zellweger syndrome
Tags
Green Green List (high evidence)
PEX7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Rhizomelic chondrodysplasia punctata
  • Refsum disease
Tags
Green Green List (high evidence)
PFKM
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Glycogen storage disease 7
Tags
Green Green List (high evidence)
PHF6
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Borjeson-Forssman-Lehmann syndrome
Tags
Green Green List (high evidence)
PHKA2
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Phosphorylase kinase deficiency
Tags
Green Green List (high evidence)
PHKB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Phosphorylase kinase deficiency
Tags
Green Green List (high evidence)
PHKG2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Phosphorylase kinase deficiency
Tags
Green Green List (high evidence)
PHYH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Refsum disease
Tags
Green Green List (high evidence)
PIEZO2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Arthrogryposis, distal, type 5
Tags
Green Green List (high evidence)
PIGA
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466
Tags
Green Green List (high evidence)
PIK3CD
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency 14, MIM # 615513
Tags
Green Green List (high evidence)
PINK1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Parkinson disease 6, early onset
Tags
Green Green List (high evidence)
PKD1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Polycystic kidney disease
Tags
Green Green List (high evidence)
PKD2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Polycystic kidney disease
Tags
Green Green List (high evidence)
PKHD1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Polycystic kidney and hepatic disease
Tags
Green Green List (high evidence)
PKLR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Pyruvate kinase deficiency
Tags
Green Green List (high evidence)
PLA2G6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Infantile neuroaxonal dystrophy 1
Tags
Green Green List (high evidence)
PLCE1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Nephrotic syndrome
Tags
Green Green List (high evidence)
PLEC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Muscular dystrophy
  • Epidermolysis bullosa simplex
Tags
Green Green List (high evidence)
PLG
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hereditary angioedema-4 (HAE4), MIM#619360
  • Plasminogen deficiency, type I, MIM# 217090
Tags
Green Green List (high evidence)
PLOD1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Ehlers-Danlos syndrome, kyphoscoliotic type
Tags
Green Green List (high evidence)
PLP1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Spastic paraplegia 2, X-linked
  • Pelizaeus-Merzbacher disease
Tags
Green Green List (high evidence)
PLS1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Deafness
Tags
Green Green List (high evidence)
PMM2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Ia
Tags
Green Green List (high evidence)
PMP22
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Charcot-Marie-Tooth disease
Tags
Green Green List (high evidence)
PNKD
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Paroxysmal nonkinesiogenic dyskinesia
Tags
Green Green List (high evidence)
PNKP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Microcephaly - seizures - developmental delay
Tags
Green Green List (high evidence)
PNPO
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Epileptic encephalopathy, neonatal
Tags
Green Green List (high evidence)
POLG
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • POLG-Related Ataxia Neuropathy Spectrum Disorders
Tags
Green Green List (high evidence)
POLH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Xeroderma pigmentosum
Tags
Green Green List (high evidence)
POMGNT1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Tags
Green Green List (high evidence)
POMT1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Walker-Warburg syndrome
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1
Tags
Green Green List (high evidence)
POMT2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2
Tags
Green Green List (high evidence)
POR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Disordered steroidogenesis with and without Antley-Bixler syndrome
Tags
Green Green List (high evidence)
PORCN
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Focal dermal hypoplasia
Tags
Green Green List (high evidence)
POU1F1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Pituitary hormone deficiency
Tags
Green Green List (high evidence)
POU3F4
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, X-linked
Tags
Green Green List (high evidence)
POU4F3
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal dominant
Tags
Green Green List (high evidence)
PPT1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Neuronal ceroid lipofuscinosis
Tags
Green Green List (high evidence)
PQBP1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Mental retardation
Tags
Green Green List (high evidence)
PRF1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hemophagocytic lymphohistiocytosis, familial, 2
Tags
Green Green List (high evidence)
PRKAR1A
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Carney complex
Tags
Green Green List (high evidence)
PROC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Thrombophilia due to protein C deficiency
Tags
Green Green List (high evidence)
PROKR2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hypogonadotropic hypogonadism
Tags
Green Green List (high evidence)
PROP1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Pituitary hormone deficiency, combined, 2
Tags
Green Green List (high evidence)
PROS1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Protein S deficiency
Tags
Green Green List (high evidence)
PRX
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Charcot-Marie-Tooth disease
Tags
Green Green List (high evidence)
PSAP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Metachromatic leukodystrophy
Tags
Green Green List (high evidence)
PTCH1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Nevoid basal cell carcinoma syndrome
Tags
Green Green List (high evidence)
PTEN
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Cowden disease
  • Bannayan-Riley-Ruvalcaba syndrome
Tags
Green Green List (high evidence)
PTH1R
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Metaphyseal chondrodysplasia
Tags
Green Green List (high evidence)
PTPN11
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Noonan syndrome
Tags
Green Green List (high evidence)
PTPRC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 608971
Tags
Green Green List (high evidence)
PTS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hyperphenylalaninemia, BH4-deficient, A
Tags
Green Green List (high evidence)
PYGL
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Glycogen storage disease VI
Tags
Green Green List (high evidence)
PYGM
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • McCardle disease MIM# 608455
Tags
Green Green List (high evidence)
QDPR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Dihydropteridine reductase deficiency
Tags
Green Green List (high evidence)
RAB23
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Carpenter syndrome
Tags
Green Green List (high evidence)
RAB27A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Griscelli syndrome
Tags
Green Green List (high evidence)
RAB3GAP1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Warburg micro syndrome
Tags
Green Green List (high evidence)
RAB3GAP2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Warburg micro syndrome 2, MIM# 614225
Tags
Green Green List (high evidence)
RAB7A
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Charcot-Marie-Tooth disease
Tags
Green Green List (high evidence)
RAF1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Noonan syndrome
Tags
Green Green List (high evidence)
RAG1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Omenn syndrome
Tags
Green Green List (high evidence)
RAG2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Omenn syndrome
Tags
Green Green List (high evidence)
RAI1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Potocki-Lupski syndrome
  • Smith-Magenis syndrome
Tags
Green Green List (high evidence)
RAPSN
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Congenital myasthenic syndrome
Tags
Green Green List (high evidence)
RASA1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Capillary malformation-arteriovenous malformation
Tags
Green Green List (high evidence)
RB1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Retinoblastoma
Tags
Green Green List (high evidence)
RBM8A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Thrombocytopaenia-absent radius syndrome
Tags
Green Green List (high evidence)
RDX
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 24, MIM# 611022
Tags
Green Green List (high evidence)
RECQL4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Baller-Gerold syndrome
  • Rothmund-Thomson syndrome
  • Rapadilino syndrome
Tags
Green Green List (high evidence)
REN
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Renal tubular dysgenesis
Tags
Green Green List (high evidence)
RET
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Multiple endocrine neoplasia IIA
  • Multiple endocrine neoplasia IIB
Tags
Green Green List (high evidence)
RETREG1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115
  • MONDO:0013142
Tags
Green Green List (high evidence)
RMRP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Cartilage-hair hypoplasia
Tags
Green Green List (high evidence)
RNASEH2A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Aicardi-Goutieres syndrome
Tags
Green Green List (high evidence)
RNASEH2B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Aicardi-Goutieres syndrome
Tags
Green Green List (high evidence)
RNASEH2C
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Aicardi-Goutieres syndrome
Tags
Green Green List (high evidence)
ROR2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Brachydactyly, type B1
  • Robinow syndrome
Tags
Green Green List (high evidence)
RPGR
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Retinitis pigmentosa
Tags
Green Green List (high evidence)
RPGRIP1L
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Meckel syndrome
  • Joubert syndrome
Tags
Green Green List (high evidence)
RPL11
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Diamond-Blackfan anemia
Tags
Green Green List (high evidence)
RPL5
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Diamond-Blackfan anemia
Tags
Green Green List (high evidence)
RPS15
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Diamond-Blackfan anemia
Tags
Green Green List (high evidence)
RPS17
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Diamond-Blackfan anemia
Tags
Green Green List (high evidence)
RPS19
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Diamond-Blackfan anemia
Tags
Green Green List (high evidence)
RPS24
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Diamond-Blackfan anemia
Tags
Green Green List (high evidence)
RPS26
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Diamond-Blackfan anemia
Tags
Green Green List (high evidence)
RPS6KA3
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Coffin-Lowry syndrome
Tags
Green Green List (high evidence)
RRM2B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Mitochondrial DNA depletion syndrome
Tags
Green Green List (high evidence)
RS1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Retinoschisis, X linked
Tags
Green Green List (high evidence)
RSPH4A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Ciliary dyskinesia, primary
Tags
Green Green List (high evidence)
RSPH9
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Ciliary dyskinesia, primary
Tags
Green Green List (high evidence)
RUNX2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Cleidocranial dysostosis
Tags
Green Green List (high evidence)
RYR1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BabySeq Category B gene
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Malignant hyperthermia, multiminicore disease MIM#180901
Tags
Green Green List (high evidence)
RYR2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic
  • Arrhythmogenic right ventricular dysplasia 2
Tags
Green Green List (high evidence)
SACS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Spastic ataxia Charlevoix-Saguenay type
Tags
Green Green List (high evidence)
SALL1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Townes-Brocks syndrome
Tags
Green Green List (high evidence)
SAMHD1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Aicardi-Goutieres syndrome
Tags
Green Green List (high evidence)
SBDS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Shwachman-Bodian-Diamond syndrome
Tags
Green Green List (high evidence)
SCN11A
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Episodic pain syndrome
Tags
Green Green List (high evidence)
SCN1A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Dravet syndrome
Tags
Green Green List (high evidence)
SCNN1A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Pseudohypoaldosteronism
Tags
Green Green List (high evidence)
SCNN1B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Pseudohypoaldosteronism, type I MIM# 264350
Tags
Green Green List (high evidence)
SCO2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency
Tags
Green Green List (high evidence)
SDHD
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hereditary Paraganglioma-Pheochromocytoma Syndromes
Tags
Green Green List (high evidence)
SELENON
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Myopathy, congenital, with fiber-type disproportion
  • Muscular dystrophy, rigid spine
Tags
Green Green List (high evidence)
SEPT9
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Amyotrophy, hereditary neuralgic
Tags
Green Green List (high evidence)
SERPINA1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Antitrypsin alpha 1 deficiency
  • Emphysema due to AAT deficiency, OMIM #107400
Tags
Green Green List (high evidence)
SETBP1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Schinzel-Giedion syndrome
Tags
Green Green List (high evidence)
SETX
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Ataxia-ocular apraxia 2
Tags
Green Green List (high evidence)
SFTPB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary
Tags
Green Green List (high evidence)
SFTPC
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 2 MIM# 178620
  • Interstitial lung disease
Tags
Green Green List (high evidence)
SGCA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2D
Tags
Green Green List (high evidence)
SGCB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2E
Tags
Green Green List (high evidence)
SGCD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287
Tags
Green Green List (high evidence)
SGCG
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2C
Tags
Green Green List (high evidence)
SGSH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Mucopolysaccharidisis type IIIA (Sanfilippo A)
Tags
Green Green List (high evidence)
SH2D1A
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Lymphoproliferative syndrome
Tags
Green Green List (high evidence)
SH3TC2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Charcot-Marie-Tooth disease
Tags
Green Green List (high evidence)
SHANK3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Phelan-McDermid syndrome, MIM# 606232
  • MONDO:0011652
Tags
  • SV/CNV
Green Green List (high evidence)
SHH
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Holoprosencephaly-3
Tags
Green Green List (high evidence)
SIL1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Marinesco-Sjogren syndrome
Tags
Green Green List (high evidence)
SIX1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Branchiootorenal syndrome
Tags
Green Green List (high evidence)
SIX3
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Holoprosencephaly-2
Tags
Green Green List (high evidence)
SKI
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Shprintzen-Goldberg syndrome
Tags
Green Green List (high evidence)
SLC12A1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Bartter syndrome
Tags
Green Green List (high evidence)
SLC12A3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Gitelman syndrome
Tags
Green Green List (high evidence)
SLC12A6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Agenesis of the corpus callosum with peripheral neuropathy
Tags
Green Green List (high evidence)
SLC16A2
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Allan-Herndon-Dudley syndrome
Tags
Green Green List (high evidence)
SLC17A5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Sialic acid storage disorder, infantile
Tags
Green Green List (high evidence)
SLC19A2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Thiamine-responsive megaloblastic anemia syndrome
Tags
Green Green List (high evidence)
SLC19A3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Basal ganglia disease, biotin-responsive
Tags
Green Green List (high evidence)
SLC22A5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Carnitine deficiency, systemic primary
Tags
Green Green List (high evidence)
SLC25A13
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Citrullinemia
Tags
Green Green List (high evidence)
SLC25A15
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
Tags
Green Green List (high evidence)
SLC25A20
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Carnitine-acylcarnitine translocase deficiency
Tags
Green Green List (high evidence)
SLC25A38
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive
Tags
Green Green List (high evidence)
SLC25A4
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Progressive external ophthalmoplegia
Tags
Green Green List (high evidence)
SLC26A2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Achondrogenesis 1B
Tags
Green Green List (high evidence)
SLC26A3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Chloride diarrhea, congenital, Finnish type
Tags
Green Green List (high evidence)
SLC26A4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Pendred syndrome
Tags
Green Green List (high evidence)
SLC27A4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Ichthyosis prematurity syndrome
Tags
Green Green List (high evidence)
SLC2A1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • GLUT1 deficiency syndrome 1
Tags
Green Green List (high evidence)
SLC2A10
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Arterial tortuosity syndrome
Tags
Green Green List (high evidence)
SLC34A2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Pulmonary alveolar microlithiasis
Tags
Green Green List (high evidence)
SLC34A3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hypophosphatemic rickets with hypercalciuria
Tags
Green Green List (high evidence)
SLC35D1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Schneckenbecken dysplasia
Tags
Green Green List (high evidence)
SLC37A4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Glycogen storage disease Ib
Tags
Green Green List (high evidence)
SLC39A4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Acrodermatitis enteropathica
Tags
Green Green List (high evidence)
SLC3A1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Cystinuria
Tags
Green Green List (high evidence)
SLC45A2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Oculocutaneous albinism, type IV
Tags
Green Green List (high evidence)
SLC46A1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Folate malabsorption, hereditary
Tags
Green Green List (high evidence)
SLC4A1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Spherocytosis
Tags
Green Green List (high evidence)
SLC4A11
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Corneal endothelial dystrophy
Tags
Green Green List (high evidence)
SLC5A2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Renal glucosuria
Tags
Green Green List (high evidence)
SLC5A5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Thyroid dyshormonogenesis 1
Tags
Green Green List (high evidence)
SLC6A19
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Hartnup disorder, MIM # 234500
Tags
Green Green List (high evidence)
SLC6A5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hyperekplexia 3
Tags
Green Green List (high evidence)
SLC6A8
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Creatine deficiency syndrome, X-linked
Tags
Green Green List (high evidence)
SLC7A7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Lysinuric protein intolerance
Tags
Green Green List (high evidence)
SLC7A9
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Cystinuria
Tags
Green Green List (high evidence)
SLC9A6
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Christianson syndrome
Tags
Green Green List (high evidence)
SLCO2A1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100
  • Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441
Tags
Green Green List (high evidence)
SMAD3
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Loeys-Dietz syndrome
Tags
Green Green List (high evidence)
SMAD4
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Juvenile polyposis syndrome
Tags
Green Green List (high evidence)
SMARCAL1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Schimke immunoosseous dysplasia
Tags
Green Green List (high evidence)
SMC1A
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Cornelia de Lange syndrome
Tags
Green Green List (high evidence)
SMN1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Spinal muscular atrophy
Tags
Green Green List (high evidence)
SMPD1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Niemann-Pick disease, type A
  • Niemann-Pick disease, type B
Tags
Green Green List (high evidence)
SMPX
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, X-linked
Tags
Green Green List (high evidence)
SOX10
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Shah-Waardenburg syndrome
Tags
Green Green List (high evidence)
SOX9
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Campomelic dysplasia
Tags
Green Green List (high evidence)
SP110
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hepatic venoocclusive disease with immunodeficiency
Tags
Green Green List (high evidence)
SPEG
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Centronuclear myopathy 5, MIM# 615959
Tags
Green Green List (high evidence)
SPINK5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Netherton syndrome 1
  • Netherton syndrome
Tags
Green Green List (high evidence)
SPR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Sepiapterin reductase deficiency
Tags
Green Green List (high evidence)
SPRED1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Legius syndrome
Tags
Green Green List (high evidence)
SPTA1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Elliptocytosis
Tags
Green Green List (high evidence)
SPTB
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Spherocytosis
Tags
Green Green List (high evidence)
SPTLC1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type IA
Tags
Green Green List (high evidence)
SRCAP
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Floating-Harbor syndrome
Tags
Green Green List (high evidence)
STAC3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Myopathy, congenital, Baily-Bloch, MIM# 255995
Tags
Green Green List (high evidence)
STAR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Congenital lipoid adrenal hyperplasia,
Tags
Green Green List (high evidence)
STAT3
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hyper-IgE recurrent infection syndrome
Tags
Green Green List (high evidence)
STK11
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Peutz-Jeghers syndrome
Tags
Green Green List (high evidence)
STRA6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Microphthalmia, syndromic
Tags
Green Green List (high evidence)
STRC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive
Tags
Green Green List (high evidence)
STS
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Ichthyosis, X-linked
Tags
Green Green List (high evidence)
STX11
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hemophagocytic lymphohistiocytosis, familial, 4
Tags
Green Green List (high evidence)
STXBP1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Epileptic encephalopathy, early infantile
Tags
Green Green List (high evidence)
STXBP2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hemophagocytic lymphohistiocytosis
Tags
Green Green List (high evidence)
SUCLA2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with methylmalonic aciduria)
Tags
Green Green List (high evidence)
SUCLG1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)
Tags
Green Green List (high evidence)
SUOX
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Sulphite oxidase deficiency
Tags
Green Green List (high evidence)
SURF1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Leigh syndrome, due to COX deficiency
Tags
Green Green List (high evidence)
TAT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Tyrosinemia, type II
Tags
Green Green List (high evidence)
TAZ
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Barth syndrome
Tags
Green Green List (high evidence)
TBC1D24
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome
Tags
Green Green List (high evidence)
TBX1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • DiGeorge syndrome
Tags
Green Green List (high evidence)
TBX5
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Holt-Oram syndrome
Tags
Green Green List (high evidence)
TCIRG1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Osteopetrosis, infantile malignant
Tags
Green Green List (high evidence)
TCOF1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Treacher Collins syndrome 1
Tags
Green Green List (high evidence)
TECTA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness
Tags
Green Green List (high evidence)
TFAP2A
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Branchiooculofacial syndrome
Tags
Green Green List (high evidence)
TFAP2B
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Char syndrome
Tags
Green Green List (high evidence)
TFG
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hereditary motor and sensory neuropathy
Tags
Green Green List (high evidence)
TG
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Thyroid dyshormonogenesis 3
Tags
Green Green List (high evidence)
TGFBR1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Loeys-Dietz syndrome
Tags
Green Green List (high evidence)
TGFBR2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Loeys-Dietz syndrome
Tags
Green Green List (high evidence)
TGM1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive
Tags
Green Green List (high evidence)
TGM5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Peeling skin syndrome, acral type
Tags
Green Green List (high evidence)
TH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Tyrosine hydroxylase deficiency
Tags
Green Green List (high evidence)
THRA
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hypothyroidism, congenital, nongoitrous, 6
Tags
Green Green List (high evidence)
THRB
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Thyroid hormone resistance
Tags
Green Green List (high evidence)
TIMM8A
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Mohr-Tranebjaerg syndrome
Tags
Green Green List (high evidence)
TK2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Mitochondrial DNA depletion syndrome
Tags
Green Green List (high evidence)
TMC1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness
Tags
Green Green List (high evidence)
TMEM43
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 5
Tags
Green Green List (high evidence)
TMEM67
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Meckel syndrome
  • Joubert syndrome
Tags
Green Green List (high evidence)
TMIE
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive
Tags
Green Green List (high evidence)
TMPRSS3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive
Tags
Green Green List (high evidence)
TNFRSF11B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Paget disease
Tags
Green Green List (high evidence)
TNFSF11
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Osteopetrosis, autosomal recessive 2
Tags
Green Green List (high evidence)
TNNI2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Distal arthrogryposis syndrome 2b
Tags
Green Green List (high evidence)
TNNT1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Nemaline myopathy, Amish type
Tags
Green Green List (high evidence)
TNNT3
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Arthyrgryposis, distal
Tags
Green Green List (high evidence)
TP53
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Li-Fraumeni syndrome
Tags
Green Green List (high evidence)
TPM2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Nemaline myopathy
  • Arthrogryposis multiplex congenita, distal
Tags
Green Green List (high evidence)
TPM3
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Nemaline myopathy
  • Congenital fiber-type disproportion myopathy
Tags
Green Green List (high evidence)
TPO
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Thyroid dyshormonogenesis 2A
Tags
Green Green List (high evidence)
TPP1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Neuronal ceroid lipofuscinosis
Tags
Green Green List (high evidence)
TRAPPC2
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Spondyloepiphyseal dysplasia tarda
Tags
Green Green List (high evidence)
TREX1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Aicardi-Goutieres syndrome 1
Tags
Green Green List (high evidence)
TRIM32
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2H
Tags
Green Green List (high evidence)
TRIM37
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Mulibrey nanism syndrome
Tags
Green Green List (high evidence)
TRIOBP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive
Tags
Green Green List (high evidence)
TRMU
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Liver failure, transient infantile
Tags
Green Green List (high evidence)
TRPM4
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Cardiac conduction disease
Tags
Green Green List (high evidence)
TSC1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Tuberous sclerosis 1
Tags
Green Green List (high evidence)
TSC2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Tuberous sclerosis 2
Tags
Green Green List (high evidence)
TSEN54
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Pontocerebellar hypoplasia type 4
Tags
Green Green List (high evidence)
TSHB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hypothryoidism, congenital, nongoitrous 4
Tags
Green Green List (high evidence)
TSHR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hypothyroidism
Tags
Green Green List (high evidence)
TTC21B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Nephronophthisis 12, MIM# 613820
  • Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819
Tags
Green Green List (high evidence)
TTC37
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Trichohepatoenteric syndrome
Tags
Green Green List (high evidence)
TTC7A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Immunodeficiency, combined, with intestinal atresias
Tags
Green Green List (high evidence)
TTPA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Ataxia with isolated vitamin E deficiency
Tags
Green Green List (high evidence)
TTR
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Amyloidosis, hereditary, transthyretin-related
Tags
Green Green List (high evidence)
TWIST1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Saethre-Chotzen syndrome
Tags
Green Green List (high evidence)
TWNK
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia infantile-onset
Tags
Green Green List (high evidence)
TYMP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Mitochondrial DNA depletion syndrome
Tags
Green Green List (high evidence)
TYR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Albinism, oculocutaneous 1
Tags
Green Green List (high evidence)
UBR1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Johanson-Blizzard syndrome
Tags
Green Green List (high evidence)
UGT1A1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Crigler-Najjar syndrome
Tags
Green Green List (high evidence)
UMOD
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Nephropathy
Tags
Green Green List (high evidence)
UNC13D
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hemophagocytic lymphohistiocytosis, familial, 3
Tags
Green Green List (high evidence)
UROD
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Porphyria, hepatoerythropoietic
Tags
Green Green List (high evidence)
UROS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Porphyria, congenital erythropoietic
Tags
Green Green List (high evidence)
USH1C
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Usher syndrome 1
Tags
Green Green List (high evidence)
USH1G
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Usher syndrome 1
Tags
Green Green List (high evidence)
USH2A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Usher syndrome 2
Tags
Green Green List (high evidence)
VCAN
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Wagner syndrome
Tags
Green Green List (high evidence)
VCP
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Inclusion body myopathy with early-onset paget disease and frontotemporal dementia
Tags
Green Green List (high evidence)
VDR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Vitamin D-dependent rickets
Tags
Green Green List (high evidence)
VHL
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • von Hippel-Lindau syndrome
Tags
Green Green List (high evidence)
VIPAS39
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Arthrogryposis, renal dysfunction and cholestasis
Tags
Green Green List (high evidence)
VLDLR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1
Tags
Green Green List (high evidence)
VPS13A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Choreoacanthocytosis
Tags
Green Green List (high evidence)
VPS13B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Cohen syndrome
Tags
Green Green List (high evidence)
VPS33B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Arthrogryposis renal dysfunction cholestasis syndrome
Tags
Green Green List (high evidence)
WAS
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Wiskott-Aldrich syndrome
Tags
Green Green List (high evidence)
WDR62
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
Tags
Green Green List (high evidence)
WFS1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Wolfram syndrome
Tags
Green Green List (high evidence)
WHRN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Usher syndrome, type 2D, MIM# 611383
  • Deafness, autosomal recessive 31, MIM# 607084
Tags
Green Green List (high evidence)
WRAP53
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Dyskeratosis congenita, autosomal recessive 3, MIM# 613988
Tags
Green Green List (high evidence)
WRN
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Werner syndrome
Tags
Green Green List (high evidence)
XPA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Xeroderma pigmentosum
Tags
Green Green List (high evidence)
XPC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Xeroderma pigmentosum
Tags
Green Green List (high evidence)
ZAP70
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • ZAP70-related severe combined immunodeficiency
Tags
Green Green List (high evidence)
ZEB2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Mowat-Wilson syndrome
Tags
Green Green List (high evidence)
ZIC2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Holoprosencephaly-5
Tags
Green Green List (high evidence)
ZIC3
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Heterotaxy
Tags
Green Green List (high evidence)
ZMPSTE24
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Restrictive dermopathy
Tags
Green Green List (high evidence)
ZNF469
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Brittle cornea syndrome
Tags
Amber Amber List (moderate evidence)
ACTA2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Aortic aneurysm, familial thoracic
Tags
Amber Amber List (moderate evidence)
AIP
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Pituitary adenoma
Tags
Amber Amber List (moderate evidence)
BMPR2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Pulmonary hypertension, familial primary
Tags
Amber Amber List (moderate evidence)
CACNA1C
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Brugada syndrome
Tags
Amber Amber List (moderate evidence)
CDKN2A
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Melanoma
Tags
Amber Amber List (moderate evidence)
CP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Aceruloplasminaemia
Tags
Amber Amber List (moderate evidence)
CRYAB
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Myofibrillar myopathy
  • Cardiomyopathy, dilated
Tags
Amber Amber List (moderate evidence)
DES
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Cardiomyopathy, dilated
  • Myopathy, myofibrillar
Tags
Amber Amber List (moderate evidence)
DKC1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Dyskeratosis congenita
Tags
Amber Amber List (moderate evidence)
DMD
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Becker muscular dystrophy
  • Duchenne muscular dystrophy
  • Cardiomyopathy, dilated
Tags
Amber Amber List (moderate evidence)
DSC2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Arrhythmogenic right ventricular cardiomyopathy
Tags
Amber Amber List (moderate evidence)
DSG2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Arrhythmogenic right ventricular cardiomyopathy
Tags
Amber Amber List (moderate evidence)
DSP
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Arrhythmogenic right ventricular dysplasia/cardiomyopathy
  • Epidermolysis bullosa, lethal acantholytic
Tags
Amber Amber List (moderate evidence)
GABRG2
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Amber
Phenotypes
  • Epilepsy, generalized, with febrile seizures plus, type 3 MIM# 607681
  • Epileptic encephalopathy, early infantile, 74 MIM# 618396
  • Febrile seizures, familial, 8 MIM# 607681
Tags
Amber Amber List (moderate evidence)
GCH1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Dystonia, dopa-responsive
Tags
Amber Amber List (moderate evidence)
GJA5
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Atrial fibrillation
Tags
Amber Amber List (moderate evidence)
GPD1L
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Brugada syndrome
Tags
Amber Amber List (moderate evidence)
JUP
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Naxos disease
  • Arrhythmogenic right ventricular dysplasia 12
Tags
Amber Amber List (moderate evidence)
KCNA5
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Atrial fibrillation
Tags
Amber Amber List (moderate evidence)
KCNE1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Jervell and Lange-Nielsen syndrome
  • Long QT syndrome-5
Tags
Amber Amber List (moderate evidence)
KCNE2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Long QT syndrome-6
Tags
Amber Amber List (moderate evidence)
KCNH2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Long QT syndrome-2
Tags
Amber Amber List (moderate evidence)
KCNQ1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Jervell and Lange-Nielsen syndrome
  • Long QT syndrome-1
Tags
Amber Amber List (moderate evidence)
KRIT1
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Cerebral cavernous malformations-1 MIM# 116860
Tags
Amber Amber List (moderate evidence)
LMNA
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Emery-Dreifuss muscular dystrophy 2
  • Charcot-Marie-Tooth disease
  • Dilated cardiomyopathy
Tags
Amber Amber List (moderate evidence)
MCCC1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • 3-Methylcrotonyl-CoA carboxylase 1 deficiency
Tags
Amber Amber List (moderate evidence)
MTHFR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Homocystinuria due to MTHFR deficiency
Tags
Amber Amber List (moderate evidence)
MYH11
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Aortic aneurysm, familial thoracic 4
Tags
Amber Amber List (moderate evidence)
MYL2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 10
Tags
Amber Amber List (moderate evidence)
MYL3
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 8
Tags
Amber Amber List (moderate evidence)
MYLK
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Aortic aneurysm, familial thoracic 7
Tags
Amber Amber List (moderate evidence)
NKX2-5
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Congenital heart disease
Tags
Amber Amber List (moderate evidence)
PCSK9
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Hypercholesterolemia
Tags
Amber Amber List (moderate evidence)
PHOX2B
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Central hypoventilation syndrome
Tags
Amber Amber List (moderate evidence)
PKP2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 9
Tags
Amber Amber List (moderate evidence)
RBM20
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Cardiomyopathy, dilated, 1DD
Tags
Amber Amber List (moderate evidence)
SCN5A
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Brugada syndrome
  • Long QT syndrome
Tags
Amber Amber List (moderate evidence)
SDHAF2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Hereditary Paraganglioma-Pheochromocytoma Syndromes
Tags
Amber Amber List (moderate evidence)
SDHB
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Hereditary Paraganglioma-Pheochromocytoma Syndromes
Tags
Amber Amber List (moderate evidence)
SDHC
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Hereditary Paraganglioma-Pheochromocytoma Syndromes
Tags
Amber Amber List (moderate evidence)
SNTA1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Long QT syndrome
Tags
Amber Amber List (moderate evidence)
TERC
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Dyskeratosis congenita
Tags
Amber Amber List (moderate evidence)
TERT
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Dyskeratosis congenita
Tags
Amber Amber List (moderate evidence)
TINF2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Dyskeratosis congenita
Tags
Amber Amber List (moderate evidence)
TNNC1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Cardiomyopathy, dilated
Tags
Amber Amber List (moderate evidence)
TNNI3
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Familial hypertrophic cardiomyopathy
  • Cardiomyopathy, dilated
Tags
Amber Amber List (moderate evidence)
TNNT2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Familial hypertrophic cardiomyopathy
  • Cardiomyopathy, dilated
Tags
Amber Amber List (moderate evidence)
TPM1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Cardiomyopathy, hypertrophic
Tags
Amber Amber List (moderate evidence)
TTN
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Centronuclear myopathy
  • Cardiomyopathy, dilated
Tags
Amber Amber List (moderate evidence)
VCL
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Cardiomyopathy, dilated
Tags
Amber Amber List (moderate evidence)
VWF
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • von Willebrand disease
Tags
Amber Amber List (moderate evidence)
WT1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Frasier syndrome
  • Denys-Drash syndrome
  • Wilms tumor, type 1
Tags
Red Red List (low evidence)
AARS2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Leukoencephalopathy, and ovarian failure in females
Tags
Red Red List (low evidence)
ABAT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • GABA-transaminase deficiency
Tags
Red Red List (low evidence)
ABCB7
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Sideroblastic anaemia and ataxia
Tags
Red Red List (low evidence)
ABCC9
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • BabySeq Category B gene
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Atrial fibrillation, familial
  • Cardiomyopathy, dilated
  • Hypertrichotic osteochondrodysplasia
Tags
Red Red List (low evidence)
ABCD4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblJ type
Tags
Red Red List (low evidence)
ACADL
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Sudden infant death
Tags
Red Red List (low evidence)
ACADS
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Acyl-CoA dehydrogenase, short-chain, deficiency of 201470
Tags
Red Red List (low evidence)
ACADSB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • 2-Methylbutyryl-CoA dehydrogenase deficiency
Tags
Red Red List (low evidence)
ACBD5
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Thrombocytopaenia
Tags
Red Red List (low evidence)
ACO2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Cerebellar-retinal degeneration, infantile
Tags
Red Red List (low evidence)
ACSF3
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Combined malonic and methylmalonic aciduria
Tags
Red Red List (low evidence)
ACTA1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Nemaline myopathy
  • Congenital myopathy with fiber type disproportion
Tags
Red Red List (low evidence)
ACTB
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Neutrophil dysfunction and recurrent infection
  • Baraitser-Winter syndrome
Tags
Red Red List (low evidence)
ACTC1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Left ventricular noncompaction
  • Cardiomyopathy, familial hypertrophic
  • Cardiomyopathy, dilated
  • Atrial septal defect
Tags
Red Red List (low evidence)
ACTN2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Cardiomyopathy, familial hypertrophic
  • Cardiomyopathy, dilated
Tags
Red Red List (low evidence)
ACVR2B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Left-right axis malformation
Tags
Red Red List (low evidence)
ADAM17
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Neonatal inflammatory skin and bowel disease
Tags
Red Red List (low evidence)
ADAMTS2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Ehlers-Danlos syndrome VIIc
Tags
Red Red List (low evidence)
AGPS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Rhizomelic chondrodysplasia punctata, type 3
Tags
Red Red List (low evidence)
AGT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Renal tubular dysgenesis
Tags
Red Red List (low evidence)
AGTR1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Renal tubular dysgenesis
Tags
Red Red List (low evidence)
AHSP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Thalassaemia
Tags
Red Red List (low evidence)
AK1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hemolytic anemia due to adenylate kinase deficiency
Tags
Red Red List (low evidence)
AKAP9
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Long QT syndrome
Tags
Red Red List (low evidence)
AKT2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Severe insulin resistance and diabetes mellitus
Tags
Red Red List (low evidence)
AKT3
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
Tags
Red Red List (low evidence)
ALDH1A2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Tetralogy of Fallot
Tags
Red Red List (low evidence)
ALDH4A1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hyperprolinemia, type II
Tags
Red Red List (low evidence)
ALDOA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Aldolase A deficiency
Tags
Red Red List (low evidence)
ALG11
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Congenital disorder of glycosylation type 1P
Tags
Red Red List (low evidence)
ALG2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Congenital disorder of glycosylation, type Ii
Tags
Red Red List (low evidence)
AMACR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Alpha-methylacyl-CoA racemase deficiency
  • Bile acid synthesis defect, congenital, 4
Tags
Red Red List (low evidence)
AMPD1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Adenosine monophosphate deaminase deficiency
Tags
Red Red List (low evidence)
ANKRD1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Cardiomyopathy, hypertrophic
  • Cardiomyopathy, dilated
Tags
Red Red List (low evidence)
ANO5
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Gnathodiaphyseal dysplasia
  • Muscular dystrophy, limb-girdle, type 2L
Tags
Red Red List (low evidence)
AP1S3
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Pustular psoriasis
Tags
Red Red List (low evidence)
APOE
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Sea-blue histiocyte disease
Tags
Red Red List (low evidence)
APP
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Alzheimer disease 1, familial
Tags
Red Red List (low evidence)
ARHGAP31
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Syndromic cutis aplasia & limb anomalies
Tags
Red Red List (low evidence)
ARHGEF9
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hyperekplexia and epilepsy
Tags
Red Red List (low evidence)
ARID1A
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Coffin-Siris syndrome
Tags
Red Red List (low evidence)
ARL13B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Joubert syndrome
Tags
Red Red List (low evidence)
ARSE
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Chondrodysplasia punctata, X-linked recessive
Tags
Red Red List (low evidence)
ASCL1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Congenital central hypoventilation
Tags
Red Red List (low evidence)
ASNS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Microcephaly, intellectual disability, cerebral atrophy & intractable seizures
Tags
Red Red List (low evidence)
ATIC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • AICA-Ribosiduria
Tags
Red Red List (low evidence)
ATN1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Dentatorubral-pallidoluysian atrophy 1
Tags
Red Red List (low evidence)
ATP1A3
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Rapid-onset dystonia-parkinsonism
Tags
Red Red List (low evidence)
ATP6AP2
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • X-linked recessive intellectual deficit - epilepsy
Tags
Red Red List (low evidence)
ATR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Seckel syndrome
Tags
Red Red List (low evidence)
AXL
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hypogonadotropic hypogonadism
Tags
Red Red List (low evidence)
B3GAT3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
Tags
Red Red List (low evidence)
B4GALT1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • CDG syndrome type IId
Tags
Red Red List (low evidence)
B9D2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Meckel syndrome
Tags
Red Red List (low evidence)
BAG3
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Myopathy, myofibrillar
  • Cardiomyopathy, dilated
Tags
Red Red List (low evidence)
BANF1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Progeroid syndrome
Tags
Red Red List (low evidence)
BARD1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Tetralogy of Fallot
Tags
Red Red List (low evidence)
BCL9
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Congenital heart disease
Tags
Red Red List (low evidence)
BDNF
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Central hypoventilation syndrome
Tags
Red Red List (low evidence)
BLOC1S3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hermansky-Pudlak syndrome 8
Tags
Red Red List (low evidence)
BLOC1S6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hermansky-pudlak syndrome 9
Tags
Red Red List (low evidence)
BNC2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Total anomalous pulmonary venous return
Tags
Red Red List (low evidence)
BPGM
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Erythrocytosis due to bisphosphoglycerate mutase deficiency
Tags
Red Red List (low evidence)
BRCA1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Breast-ovarian cancer, familial, 1
Tags
Red Red List (low evidence)
BRCA2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Breast-ovarian cancer, familial, 2
  • Fanconi anemia, complementation group D1
Tags
Red Red List (low evidence)
BVES
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Congenital heart disease
Tags
Red Red List (low evidence)
C3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Haemolytic uraemic syndrome
Tags
Red Red List (low evidence)
CACNA1D
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Sinoatrial node dysfunction and deafness
Tags
Red Red List (low evidence)
CACNA1S
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Malignant hyperthermia
Tags
Red Red List (low evidence)
CACNA2D1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Brugada syndrome
Tags
Red Red List (low evidence)
CACNB2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Brugada syndrome
Tags
Red Red List (low evidence)
CARS2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Epileptic encephalopathy
Tags
Red Red List (low evidence)
CASP10
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Autoimmune lymphoproliferative syndrome II
Tags
Red Red List (low evidence)
CAVIN4
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Cardiomyopathy, dilated
Tags
Red Red List (low evidence)
CCDC103
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Primary ciliary dyskinesia
Tags
Red Red List (low evidence)
CCDC50
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Deafness, autosomal dominant 44 , MIM# 607453
Tags
Red Red List (low evidence)
CCDC78
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Congenital myopathy with prominent internal nuclei and atypical cores
Tags
Red Red List (low evidence)
CCDC88C
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hydrocephalus
Tags
Red Red List (low evidence)
CD2AP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Glomerulosclerosis, focal segmental, 3
Tags
Red Red List (low evidence)
CD36
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Platelet glycoprotein IV deficiency
Tags
Red Red List (low evidence)
CD46
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Haemolytic uraemic syndrome
Tags
Red Red List (low evidence)
CD96
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • C syndrome
Tags
Red Red List (low evidence)
CDH1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Orofacial clefts
  • Gastric cancer
Tags
Red Red List (low evidence)
CDON
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Holoprosencephaly
Tags
Red Red List (low evidence)
CEACAM16
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hearing loss, autosomal dominant
Tags
Red Red List (low evidence)
CENPJ
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Primary microcephaly
Tags
Red Red List (low evidence)
CEP41
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Joubert syndrome
Tags
Red Red List (low evidence)
CFB
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Haemolytic uraemic syndrome
Tags
Red Red List (low evidence)
CFD
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Complement factor D deficiency
Tags
Red Red List (low evidence)
CFH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Haemolytic uraemic syndrome
Tags
Red Red List (low evidence)
CFHR1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Haemolytic uraemic syndrome
Tags
Red Red List (low evidence)
CFHR3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Haemolytic uraemic syndrome
Tags
Red Red List (low evidence)
CFHR4
0 reviews
 Unknown
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hemolytic-uremic syndrome, atypical, susceptibility to
Tags
Red Red List (low evidence)
CFHR5
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Haemolytic uraemic syndrome
Tags
Red Red List (low evidence)
CFI
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Haemolytic uraemic syndrome
Tags
Red Red List (low evidence)
CHEK2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Breast cancer, susceptibility to
Tags
Red Red List (low evidence)
CHRM2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Cardiomyopathy, dilated
Tags
Red Red List (low evidence)
CHRNA2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Epilepsy
Tags
Red Red List (low evidence)
CHRNB1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Congenital myasthenic syndrome
Tags
Red Red List (low evidence)
CHST3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Larsen syndrome
Tags
Red Red List (low evidence)
CHSY1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Temtamy preaxial brachydactyly syndrome
Tags
Red Red List (low evidence)
CISD2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Wolfram syndrome
Tags
Red Red List (low evidence)
CITED2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Congenital heart defects
Tags
Red Red List (low evidence)
CLCN1
1 review
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Myotonia congenita, dominant, MIM# 160800
  • Myotonia congenita, recessive, MIM# 255700
Tags
Red Red List (low evidence)
CLDN1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
Tags
Red Red List (low evidence)
CLMP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Congenital short-bowel syndrome
Tags
Red Red List (low evidence)
CNTNAP2
0 reviews
 Unknown
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Autism spectrum disorder
Tags
Red Red List (low evidence)
COG4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Congenital disorder of glycosylation, type IIj
Tags
Red Red List (low evidence)
COG7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Congenital disorder of glycosylation, type IIe
Tags
Red Red List (low evidence)
COQ2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Coenzyme Q10 deficiency, primary, 1
Tags
Red Red List (low evidence)
COQ6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Nephrotic syndrome with sensorineural deafness
Tags
Red Red List (low evidence)
COX4I2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
Tags
Red Red List (low evidence)
CPOX
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Coproporphyria
Tags
Red Red List (low evidence)
CPZ
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Autism
Tags
Red Red List (low evidence)
CR2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hypogammaglobulinaemia
Tags
Red Red List (low evidence)
CRELD1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Cardiac atrioventricular septal defect
Tags
Red Red List (low evidence)
CSF1R
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Leukoencephalopathy, diffuse hereditary, with spheroids
Tags
Red Red List (low evidence)
CSF2RB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Pulmonary alveolar proteinosis
Tags
Red Red List (low evidence)
CSRP3
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 12
  • Cardiomyopathy, dilated, 1M
Tags
Red Red List (low evidence)
CSTA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Exfoliative ichthyosis
Tags
Red Red List (low evidence)
CTDP1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Congenital cataracts - facial dysmorphism - neuropathy
Tags
Red Red List (low evidence)
CTF1
0 reviews
 Unknown
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Cardiomyopathy, dilated
Tags
Red Red List (low evidence)
CYCS
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Thrombocytopenia 4
Tags
Red Red List (low evidence)
CYP7A1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
Tags
Red Red List (low evidence)
CYP7B1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Cholestasis, severe
Tags
Red Red List (low evidence)
DAG1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9
Tags
Red Red List (low evidence)
DAPK3
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Congenital heart disease
Tags
Red Red List (low evidence)
DBH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Dopamine beta-hydroxylase deficiency
Tags
Red Red List (low evidence)
DCTN1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Amyotrophic lateral sclerosis
Tags
Red Red List (low evidence)
DDHD1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Spastic paraplegia
Tags
Red Red List (low evidence)
DDOST
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Congenital disorder of glycosylation, type Ir
Tags
Red Red List (low evidence)
DDR2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Spondylometaepiphyseal dysplasia, short limb-hand type
Tags
Red Red List (low evidence)
DECR1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • 2,4-Dienoyl-CoA reductase deficiency
Tags
Red Red List (low evidence)
DGKE
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Haemolytic uraemic syndrome, atypical
Tags
Red Red List (low evidence)
DHCR24
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Desmosterolosis
Tags
Red Red List (low evidence)
DIABLO
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Deafness, autosomal dominant
Tags
Red Red List (low evidence)
DLC1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Congenital heart disease
Tags
Red Red List (low evidence)
DNAAF2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Primary ciliary dyskinesia
Tags
Red Red List (low evidence)
DNAAF3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Primary ciliary dyskinesia
Tags
Red Red List (low evidence)
DNAAF5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Primary ciliary dyskinesia
Tags
Red Red List (low evidence)
DNAI2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Primary ciliary dyskinesia
Tags
Red Red List (low evidence)
DNAJC19
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • 3-methylglutaconic aciduria, type V
Tags
Red Red List (low evidence)
DNAJC5
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Neuronal ceroid lipofuscinosis, adult-onset
Tags
Red Red List (low evidence)
DNAL1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Primary ciliary dyskinesia
Tags
Red Red List (low evidence)
DPM1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Congenital disorder of glycosylation, type Ie
Tags
Red Red List (low evidence)
DPP6
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Ventricular fibrillation, paroxysmal familial, 2
Tags
Red Red List (low evidence)
DPYD
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Dihydropyrimidine dehydrogenase deficiency
Tags
Red Red List (low evidence)
DTHD1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Leber congenital amaurosis with myopathy
Tags
Red Red List (low evidence)
DTNA
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Left ventricular noncompaction 1
Tags
Red Red List (low evidence)
DTNBP1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hermansky-Pudlak syndrome 7
Tags
Red Red List (low evidence)
ECE1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hirschsprung disease
Tags
Red Red List (low evidence)
EFEMP2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Cutis laxa, autosomal recessive, type IB
Tags
Red Red List (low evidence)
EFHC1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • {Epilepsy, juvenile absence, susceptibility to, 1}, 607631
  • {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770
Tags
Red Red List (low evidence)
EIF2B1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Leukoencephalopathy with vanishing white matter
Tags
Red Red List (low evidence)
EPB42
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Spherocytosis
Tags
Red Red List (low evidence)
EPCAM
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Lynch syndrome
Tags
Red Red List (low evidence)
EPHX1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hypercholanemia, familial
Tags
Red Red List (low evidence)
ERBB3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Lethal congenital contractural syndrome 2
Tags
Red Red List (low evidence)
ERCC1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Xeroderma pigmentosum
Tags
Red Red List (low evidence)
ERCC3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Xeroderma pigmentosum
Tags
Red Red List (low evidence)
ERCC4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Xeroderma pigmentosum
Tags
Red Red List (low evidence)
F13B
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Factor XIIIB deficiency MIM# 613235
Tags
Red Red List (low evidence)
FAAH2
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Autism spectrum disorder
Tags
Red Red List (low evidence)
FAM111B
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis
Tags
Red Red List (low evidence)
FANCE
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Fanconi anaemia
Tags
Red Red List (low evidence)
FANCF
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Fanconi anaemia
Tags
Red Red List (low evidence)
FANCL
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Fanconi anaemia
Tags
Red Red List (low evidence)
FANCM
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Fanconi anaemia
Tags
Red Red List (low evidence)
FBLN5
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Cutis laxa
  • Age-related macular degeneration
Tags
Red Red List (low evidence)
FHL1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Myofibrillar myopathy
  • Emery-Dreifuss muscular dystrophy
Tags
Red Red List (low evidence)
FHL2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Cardiomyopathy, hypertrophic
Tags
Red Red List (low evidence)
FKBPL
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Infertility
Tags
Red Red List (low evidence)
FLG
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Ichthyosis vulgaris
Tags
Red Red List (low evidence)
FLNC
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Myofibrillar myopathy
Tags
Red Red List (low evidence)
FMO3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Trimethylaminuria
Tags
Red Red List (low evidence)
FOXE1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Bamforth-Lazarus syndrome
Tags
Red Red List (low evidence)
FOXF2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Disorders of sex development with cleft palate
Tags
Red Red List (low evidence)
FOXH1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Congenital heart defects
Tags
Red Red List (low evidence)
FOXN1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Congenital alopecia with T-cell immunodeficiency
Tags
Red Red List (low evidence)
FREM1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Manitoba oculotrichoanal syndrome
Tags
Red Red List (low evidence)
FREM2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Fraser syndrome
Tags
Red Red List (low evidence)
FSCN2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Retinitis pigmentosa
Tags
Red Red List (low evidence)
FTCD
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Glutamate formiminotransferase deficiency
Tags
Red Red List (low evidence)
GABRA1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Epilepsy, idiopathic generalised
Tags
Red Red List (low evidence)
GATA1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Porphyria, congenital erythropoietic
  • Dyserythropoietic anemia with thrombocytopenia
Tags
Red Red List (low evidence)
GATA5
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Familial atrial fibrillation
Tags
Red Red List (low evidence)
GATA6
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Atrial fibrillation
Tags
Red Red List (low evidence)
GATAD1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Cardiomyopathy, dilated, 2B
Tags
Red Red List (low evidence)
GBE1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Polyglucosan body disease, adult form
  • Glycogen storage disease IV
Tags
Red Red List (low evidence)
GCLC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency
Tags
Red Red List (low evidence)
GCSH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Glycine encephalopathy
Tags
Red Red List (low evidence)
GDF1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Congenital heart defects
Tags
Red Red List (low evidence)
GDNF
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hirschsprung disease
  • Central hypoventilation syndrome
Tags
Red Red List (low evidence)
GFER
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
Tags
Red Red List (low evidence)
GLE1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Lethal arthrogryposis with anterior horn cell disease
Tags
Red Red List (low evidence)
GLI2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Holoprosencephaly-9
Tags
Red Red List (low evidence)
GLIS3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Diabetes mellitus, neonatal, with congenital hypothyroidism
Tags
Red Red List (low evidence)
GLRB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hyperekplexia 2, autosomal recessive
Tags
Red Red List (low evidence)
GLUL
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Congenital brain dysgenesis due to glutamine synthetase deficiency
Tags
Red Red List (low evidence)
GMPPA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Congenital disorder of glycosylation
Tags
Red Red List (low evidence)
GPC4
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Simpson-Golabi-Behmel syndrome
Tags
Red Red List (low evidence)
GPC6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Omodysplasia
Tags
Red Red List (low evidence)
GPHN
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hyperekplexia
Tags
Red Red List (low evidence)
GPX1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hemolytic anemia due to glutathione peroxidase deficiency
Tags
Red Red List (low evidence)
GRIN2A
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Epilepsy with neurodevelopmental defects
Tags
Red Red List (low evidence)
GTF2H5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Trichothiodystrophy
Tags
Red Red List (low evidence)
GUCY2C
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Meconium ileus
Tags
Red Red List (low evidence)
GYG1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Glycogen storage disease XV
Tags
Red Red List (low evidence)
H19
1 review
1 red 		Unknown
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Beckwith-Wiedemann Syndrome
Tags
  • non-coding gene
Red Red List (low evidence)
HAMP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Haemochromatosis
Tags
Red Red List (low evidence)
HARS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Usher syndrome type 3B
Tags
Red Red List (low evidence)
HAS2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Congenital heart disease
Tags
Red Red List (low evidence)
HCCS
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Microphthalmia
Tags
Red Red List (low evidence)
HCN4
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Brugada syndrome
Tags
Red Red List (low evidence)
HERC2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Autism spectrum disorder
Tags
Red Red List (low evidence)
HESX1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Pituitary hypoplasia
Tags
Red Red List (low evidence)
HFE
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hemochromatosis
Tags
Red Red List (low evidence)
HFE2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Haemochromatosis
Tags
Red Red List (low evidence)
HIBCH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Neurodegeneration, progressive infantile
Tags
Red Red List (low evidence)
HK1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hemolytic anemia due to hexokinase deficiency
Tags
Red Red List (low evidence)
HMBS
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Porphyria, acute intermittent
Tags
Red Red List (low evidence)
HNF1B
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Renal cysts and diabetes syndrome
Tags
Red Red List (low evidence)
HOMEZ
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Congenital heart disease
Tags
Red Red List (low evidence)
HOXA1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Athabaskan brainstem dysgenesis syndrome
Tags
Red Red List (low evidence)
HPD
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Tyrosinemia, type III
Tags
Red Red List (low evidence)
HPS6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hermansky-Pudlak syndrome 6
Tags
Red Red List (low evidence)
HYDIN
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Primary ciliary dyskinesia
Tags
Red Red List (low evidence)
HYLS1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hydrolethalus syndrome
Tags
Red Red List (low evidence)
IFT122
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Cranioectodermal dysplasia
Tags
Red Red List (low evidence)
IFT43
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Cranioectodermal dysplasia
Tags
Red Red List (low evidence)
IFT80
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Asphyxiating thoracic dystrophy 2
Tags
Red Red List (low evidence)
IGBP1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia
Tags
Red Red List (low evidence)
IGF1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Insulin-like growth factor deficiency
Tags
Red Red List (low evidence)
IL10RB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Inflammatory bowel disease
Tags
Red Red List (low evidence)
ILK
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Cardiomyopathy, dilated
Tags
Red Red List (low evidence)
IRS1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Diabetes mellitus, noninsulin dependent
Tags
Red Red List (low evidence)
ISCU
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Myopathy with defiency of succinate dehydrogenase
Tags
Red Red List (low evidence)
ISL1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Diabetes, type 2
Tags
Red Red List (low evidence)
ITGA6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Epidermolysis bullosa, junctional, with pyloric stenosis
Tags
Red Red List (low evidence)
ITGA7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Congenital muscular dystrophy with integrin deficiency
Tags
Red Red List (low evidence)
JPH2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Cardiomyopathy, hypertrophic
Tags
Red Red List (low evidence)
KCND3
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Brugada syndrome
Tags
Red Red List (low evidence)
KCNE3
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Brugada syndrome
Tags
Red Red List (low evidence)
KCNE5
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Atrial fibrillation
Tags
Red Red List (low evidence)
KCNJ18
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hypokalaemic periodic paralysis
Tags
Red Red List (low evidence)
KCNJ5
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Long QT syndrome
Tags
Red Red List (low evidence)
KCNJ8
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Sudden infant death syndrom
Tags
Red Red List (low evidence)
KCNQ1OT1
0 reviews
 Unknown
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Beckwith-Wiedemann syndrome
Tags
Red Red List (low evidence)
KCNQ2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Epilepsy, benign neonatal
Tags
Red Red List (low evidence)
KCNQ3
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Epilepsy, benign neonatal
Tags
Red Red List (low evidence)
KDM5B
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Congenital heart disease
Tags
Red Red List (low evidence)
KIF1B
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Charcot-Marie-Tooth disease
Tags
Red Red List (low evidence)
KIF1BP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Goldberg-Shprintzen megacolon syndrome
Tags
Red Red List (low evidence)
KIF22
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Spondyloepimetaphyseal dysplasia with joint laxity, type 2
Tags
Red Red List (low evidence)
KPTN
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Macrocephaly, neurodevelopmental delay, and seizures
Tags
Red Red List (low evidence)
KRT18
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Cirrhosis, cryptogenic
Tags
Red Red List (low evidence)
KRT6B
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Pachyonychia congenita
Tags
Red Red List (low evidence)
KRT8
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Cirrhosis, cryptogenic
Tags
Red Red List (low evidence)
LAMA4
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Cardiomyopathy, dilated
Tags
Red Red List (low evidence)
LARS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Infantile liver failure syndrome
Tags
Red Red List (low evidence)
LBR
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Pelger-Huet anomaly
  • Reynolds syndrome
Tags
Red Red List (low evidence)
LDB3
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Myofibrillar myopathy
Tags
Red Red List (low evidence)
LGI1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Epilepsy, familial temporal lobe, 1
Tags
Red Red List (low evidence)
LHB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hypogonadism
Tags
Red Red List (low evidence)
LMNB2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Lipodystrophy, partial
Tags
Red Red List (low evidence)
LPIN2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Majeed syndrome
Tags
Red Red List (low evidence)
LPP
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Tetralogy of Fallot
Tags
Red Red List (low evidence)
LRRK2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Parkinson disease
Tags
Red Red List (low evidence)
LUM
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Amyotrophic lateral sclerosis
Tags
Red Red List (low evidence)
LYZ
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Amyloidosis, systemic
Tags
Red Red List (low evidence)
MAPK10
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Epileptic encephalopathy
Tags
Red Red List (low evidence)
MAPT
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Dementia, frontotemporal, with or without parkinsonism
Tags
Red Red List (low evidence)
MAT1A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Methionine adenosyltransferase deficiency
Tags
Red Red List (low evidence)
MATN4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Multiple anomalies
Tags
Red Red List (low evidence)
MCCC2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category B gene
  • Expert Review Red
Phenotypes
  • 3-Methylcrotonyl-CoA carboxylase 2 deficiency
Tags
Red Red List (low evidence)
MCEE
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Methylmalonyl-CoA epimerase deficiency
Tags
Red Red List (low evidence)
MED13L
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Transposition of great arteries
Tags
Red Red List (low evidence)
MED20
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Congenital heart disease
Tags
Red Red List (low evidence)
MESP2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Spondylocostal dysostosis, autosomal recessive 2
Tags
Red Red List (low evidence)
MIB1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Left ventricular noncompaction
Tags
Red Red List (low evidence)
MIR96
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hearing loss
Tags
Red Red List (low evidence)
MLH1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Lynch syndrome
Tags
Red Red List (low evidence)
MLPH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Griscelli syndrome type 3
Tags
Red Red List (low evidence)
MOGS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Glucosidase 1 deficiency
Tags
Red Red List (low evidence)
MRPS16
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Mitochondrial respiratory chain disorder
Tags
Red Red List (low evidence)
MRPS22
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Mitochondrial respiratory chain disorder
Tags
Red Red List (low evidence)
MSH2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Lynch syndrome
Tags
Red Red List (low evidence)
MSH6
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Lynch syndrome
Tags
Red Red List (low evidence)
MSRB3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Deafness, autosomal recessive
Tags
Red Red List (low evidence)
MT-ND1
0 reviews
 MITOCHONDRIAL
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Leber hereditary optic neuropathy
Tags
Red Red List (low evidence)
MT-ND4
0 reviews
 MITOCHONDRIAL
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Leber hereditary optic neuropathy
Tags
Red Red List (low evidence)
MT-ND6
0 reviews
 MITOCHONDRIAL
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Leber hereditary optic neuropathy
Tags
Red Red List (low evidence)
MTO1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hypertrophic cardiomyopathy & lactic acidosis
Tags
Red Red List (low evidence)
MUC5B
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Pulmonary fibrosis, idiopathic
Tags
Red Red List (low evidence)
MYBPC3
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Cardiomyopathy, familial hypertrophic
  • Cardiomyopathy, dilated
Tags
Red Red List (low evidence)
MYH6
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Cardiomyopathy, familial hypertrophic
  • Atrial septal defect
  • Cardiomyopathy, dilated
Tags
Red Red List (low evidence)
MYLK2
0 reviews
 Unknown
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Cardiomyopathy, hypertrophic
Tags
Red Red List (low evidence)
MYO1C
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Sensorineural hearing loss
Tags
Red Red List (low evidence)
MYO1E
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Focal segmental glomerulosclerosis
Tags
Red Red List (low evidence)
MYO1F
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Sensorineural hearing loss
Tags
Red Red List (low evidence)
MYO5A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Griscelli syndrome
Tags
Red Red List (low evidence)
MYOM1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Cardiomyopathy, hypertrophic
Tags
Red Red List (low evidence)
MYOT
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Myofibrillar myopathy
Tags
Red Red List (low evidence)
MYOZ2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Cardiomyopathy, hypertrophic
Tags
Red Red List (low evidence)
MYPN
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Cardiomyopathy, hypertrophic
  • Cardiomyopathy, dilated
Tags
Red Red List (low evidence)
NAA10
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • N-terminal acetyltransferase deficiency
Tags
Red Red List (low evidence)
NAA15
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Congenital heart disease
Tags
Red Red List (low evidence)
NCF4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Chronic granulomatous disease
Tags
Red Red List (low evidence)
NEBL
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Cardiomyopathy, dilated
Tags
Red Red List (low evidence)
NECTIN1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Cleft lip / palate
Tags
Red Red List (low evidence)
NEDD4L
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Epilepsy, photosensitive generalised
Tags
Red Red List (low evidence)
NEXN
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Cardiomyopathy, familial hypertrophic
  • Cardiomyopathy, dilated
Tags
Red Red List (low evidence)
NFATC1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Congenital heart disease
Tags
Red Red List (low evidence)
NHP2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Dyskeratosis congenita
Tags
Red Red List (low evidence)
NIN
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Seckel syndrome
Tags
Red Red List (low evidence)
NKX3-2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Spondylo-megaepiphyseal-metaphyseal dysplasia
Tags
Red Red List (low evidence)
NLGN3
0 reviews
 Unknown
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Autism
Tags
Red Red List (low evidence)
NLGN4X
0 reviews
 Unknown
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Autism
Tags
Red Red List (low evidence)
NLRP7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hydatidiform mole
Tags
Red Red List (low evidence)
NME8
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Ciliary dyskinesia, primary
Tags
Red Red List (low evidence)
NOP10
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Dyskeratosis congenita
Tags
Red Red List (low evidence)
NOTCH1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Aortic valve disease
Tags
Red Red List (low evidence)
NPPA
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Atrial fibrillation
Tags
Red Red List (low evidence)
NR1H4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Cholestasis, infantile
Tags
Red Red List (low evidence)
NRG1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hirschsprung disease
Tags
Red Red List (low evidence)
NRXN1
0 reviews
 Unknown
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Autism
Tags
Red Red List (low evidence)
NSDHL
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • CHILD syndrome
  • CK syndrome
Tags
Red Red List (low evidence)
NUB1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Congenital heart disease
Tags
Red Red List (low evidence)
NUP155
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Atrial fibrillation
Tags
Red Red List (low evidence)
NUP62
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Striatonigral degeneration, infantile
Tags
Red Red List (low evidence)
OPA3
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Optic atrophy 3 with cataract
  • 3-methylglutaconic aciduria, type III
Tags
Red Red List (low evidence)
ORC4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Meier-Gorlin syndrome
Tags
Red Red List (low evidence)
ORC6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Meier-Gorlin syndrome
Tags
Red Red List (low evidence)
OTOG
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Deafness, autosomal recessive
Tags
Red Red List (low evidence)
OTUD4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hypogonadotropic hypogonadism, ataxia & dementia
Tags
Red Red List (low evidence)
P2RX2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hearing loss
Tags
Red Red List (low evidence)
PABPN1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Oculopharyngeal muscular dystrophy
Tags
Red Red List (low evidence)
PDE11A
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Adrenocortical hyperplasia
Tags
Red Red List (low evidence)
PDLIM3
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Cardiomyopathy, dilated
Tags
Red Red List (low evidence)
PDP1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Pyruvate dehydrogenase phosphatase deficiency
Tags
Red Red List (low evidence)
PDSS1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Deafness - encephaloneuropathy - obesity - valvulopathy Neonatal
Tags
Red Red List (low evidence)
PDSS2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Leigh syndrome with nephropathy and COQ10 deficiency
Tags
Red Red List (low evidence)
PEX11B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Peroxisome biogenesis disorder
Tags
Red Red List (low evidence)
PEX14
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Zellweger syndrome
Tags
Red Red List (low evidence)
PEX16
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Zellweger syndrome
Tags
Red Red List (low evidence)
PEX19
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Zellweger syndrome
Tags
Red Red List (low evidence)
PHKA1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Phosphorylase kinase deficiency
Tags
Red Red List (low evidence)
PHOX2A
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Fibrosis of extraocular muscles, congenital
Tags
Red Red List (low evidence)
PLN
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Cardiomyopathy, familial hypertrophic
  • Cardiomyopathy, dilated
Tags
Red Red List (low evidence)
PLOD2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Bruck syndrome
Tags
Red Red List (low evidence)
PMS2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Lynch syndrome
Tags
Red Red List (low evidence)
PNPLA1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Ichthyosis, autosomal recessive congenital
Tags
Red Red List (low evidence)
PODXL
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Focal and segmental glomerulosclerosis
Tags
Red Red List (low evidence)
POMC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Proopiomelanocortin deficiency
Tags
Red Red List (low evidence)
PPOX
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Porphyria variegata
Tags
Red Red List (low evidence)
PRDM16
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Left ventricular noncompaction
Tags
Red Red List (low evidence)
PREPL
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hypotonia - cystinuria syndrome
Tags
Red Red List (low evidence)
PRICKLE1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Epilepsy, progressive myoclonic 1B
Tags
Red Red List (low evidence)
PRKAG2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • BabySeq Category B gene
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Glycogen storage disease of heart, lethal congenital
  • Wolff-Parkinson-White syndrome
  • Cardiomyopathy, hypertrophic
Tags
Red Red List (low evidence)
PRKCSH
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Polycystic liver disease
Tags
Red Red List (low evidence)
PRODH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hyperprolinemia, type I
Tags
Red Red List (low evidence)
PRPS1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Arts syndrome
  • Charcot-Marie-Tooth disease
Tags
Red Red List (low evidence)
PRRX1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Agnathia-otocephaly complex
Tags
Red Red List (low evidence)
PSAT1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Phosphoserine aminotransferase deficiency
Tags
Red Red List (low evidence)
PSEN1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Alzheimer disease, type 3
Tags
Red Red List (low evidence)
PSEN2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Alzheimer disease, type 4
Tags
Red Red List (low evidence)
RAB10
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Congenital heart disease
Tags
Red Red List (low evidence)
RAD51B
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Breast and/or ovarian cancer
Tags
Red Red List (low evidence)
RANGRF
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Brugada syndrome
Tags
Red Red List (low evidence)
RELN
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Lissencephaly syndrome
Tags
Red Red List (low evidence)
RFX6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Diabetes, neonatal, with intestinal atresia
Tags
Red Red List (low evidence)
RHAG
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Rh-deficiency syndrome
Tags
Red Red List (low evidence)
RPL35A
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Diamond-Blackfan anemia
Tags
Red Red List (low evidence)
RPS10
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Diamond-Blackfan anemia
Tags
Red Red List (low evidence)
RPS7
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Diamond-Blackfan anemia
Tags
Red Red List (low evidence)
SC5D
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Lathosterolosis
Tags
Red Red List (low evidence)
SCN1B
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Brugada syndrome
Tags
Red Red List (low evidence)
SCN2B
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Atrial fibrillation
Tags
Red Red List (low evidence)
SCN3B
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Brugada syndrome
Tags
Red Red List (low evidence)
SCN4A
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hyperkalemic periodic paralysis, type 2
  • Hypokalemic periodic paralysis, type 2
Tags
Red Red List (low evidence)
SCN4B
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Long QT syndrome
Tags
Red Red List (low evidence)
SCNN1G
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Pseudohypoaldosteronism
Tags
Red Red List (low evidence)
SCO1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hepatic failure, early onset, and neurologic disorder
Tags
Red Red List (low evidence)
SCP2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Leukoencephalopathy - dystonia - motor neuropathy
Tags
Red Red List (low evidence)
SEC63
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Polycystic liver disease
Tags
Red Red List (low evidence)
SEMA3A
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Kallmann syndrome 1
Tags
Red Red List (low evidence)
SERPINB6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Deafness, autosomal recessive
Tags
Red Red List (low evidence)
SERPINC1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Thrombophilia due to antithrombin III deficiency
Tags
Red Red List (low evidence)
SERPIND1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Heparin cofactor 2 deficiency
Tags
Red Red List (low evidence)
SFTPA2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Pulmonary fibrosis, idiopathic
Tags
Red Red List (low evidence)
SH3BP2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Cherubism
Tags
Red Red List (low evidence)
SHOC2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Noonan-like syndrome with loose anagen hair
Tags
Red Red List (low evidence)
SIX2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Renal hypodysplasia
Tags
Red Red List (low evidence)
SIX5
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Branchiootorenal syndrome
Tags
Red Red List (low evidence)
SLC11A2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Anemia, hypochromic microcytic
Tags
Red Red List (low evidence)
SLC12A5
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Febrile seizures
Tags
Red Red List (low evidence)
SLC16A1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Monocarboxylate transporter 1 deficiency
Tags
Red Red List (low evidence)
SLC16A12
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Cataract, juvenile with microcornea and renal glucosuria
Tags
Red Red List (low evidence)
SLC25A12
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hypomyelination, global cerebral
Tags
Red Red List (low evidence)
SLC25A22
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Early myoclonic encephalopathy
Tags
Red Red List (low evidence)
SLC27A5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Bile acid amidation defect
Tags
Red Red List (low evidence)
SLC33A1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Congenital cataracts, hearing loss and low serum copper and ceruloplasmin
  • Spastic paraplegia, autosomal dominant
Tags
Red Red List (low evidence)
SLC35A1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • CDG syndrome type IIf
Tags
Red Red List (low evidence)
SLC35A2
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Early-onset epileptic encephalopathy
Tags
Red Red List (low evidence)
SLC35C1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Congenital disorder of glycosylation 2c
Tags
Red Red List (low evidence)
SLC41A1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Nephronophthisis-like nephropathy 2, MIM# 619468
Tags
Red Red List (low evidence)
SLC4A10
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Epilepsy & mental retardation
Tags
Red Red List (low evidence)
SLC4A4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Renal tubular acidosis, proximal, with ocular abnormalities
Tags
Red Red List (low evidence)
SLC6A2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Orthostatic intolerance
Tags
Red Red List (low evidence)
SLC9A3R1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 2
Tags
Red Red List (low evidence)
SLCO1B1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hyperbilirubinemia, Rotor type, digenic
Tags
Red Red List (low evidence)
SLCO1B3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hyperbilirubinemia, Rotor type, digenic
Tags
Red Red List (low evidence)
SMAD1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Pulmonary arterial hypertension
Tags
Red Red List (low evidence)
SMAD6
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Cardiovascular malformation, congenital
Tags
Red Red List (low evidence)
SMAD9
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Pulmonary arterial hypertension
Tags
Red Red List (low evidence)
SMO
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Medulloblastoma
Tags
Red Red List (low evidence)
SNAP29
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
Tags
Red Red List (low evidence)
SOD1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Amyotrophic lateral sclerosis
Tags
Red Red List (low evidence)
SOX18
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hypotrichosis-lymphedema-telangiectasia syndrome
Tags
Red Red List (low evidence)
SP7
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Osteogenesis imperfecta, type XII
Tags
Red Red List (low evidence)
SPTLC2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type IC
Tags
Red Red List (low evidence)
ST14
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Ichthyosis hypotrichosis syndrome
Tags
Red Red List (low evidence)
ST3GAL5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Amish infantile epilepsy syndrome
Tags
Red Red List (low evidence)
SYNE4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hearing loss
Tags
Red Red List (low evidence)
SYT14
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 11
Tags
Red Red List (low evidence)
TAB2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Congenital heart disease, nonsyndromic
Tags
Red Red List (low evidence)
TARDBP
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Amyotrophic lateral sclerosis type 10
Tags
Red Red List (low evidence)
TBCE
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hypoparathyroidism retardation dysmorphism syndrome
Tags
Red Red List (low evidence)
TBX20
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Congenital heart disease
Tags
Red Red List (low evidence)
TCAP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Cardiomyopathy, dilated
  • Muscular dystrophy, limb-girdle, type 2G
Tags
Red Red List (low evidence)
TCTN1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Joubert syndrome
Tags
Red Red List (low evidence)
TCTN3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Joubert syndrome
Tags
Red Red List (low evidence)
TFR2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hemochromatosis type 3
Tags
Red Red List (low evidence)
TGFB1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Camurati-Engelmann disease
Tags
Red Red List (low evidence)
TGFB3
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Arrhythmogenic right ventricular dysplasia
Tags
Red Red List (low evidence)
TGIF1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Holoprosencephaly-4
Tags
Red Red List (low evidence)
THBD
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Haemolytic uraemic syndrome
Tags
Red Red List (low evidence)
THBS1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Pulmonary hypertension
Tags
Red Red List (low evidence)
TJP2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hypercholanemia, familial
Tags
Red Red List (low evidence)
TMC8
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Epidermodysplasia verruciformi
Tags
Red Red List (low evidence)
TMEM216
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Meckel syndrome
  • Joubert syndrome
Tags
Red Red List (low evidence)
TMEM237
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Joubert syndrome
Tags
Red Red List (low evidence)
TMPO
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Cardiomyopathy, dilated
Tags
Red Red List (low evidence)
TNXB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Ehlers-Danlos syndrome due to tenascin X deficiency
Tags
Red Red List (low evidence)
TPRN
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Deafness, autosomal recessive
Tags
Red Red List (low evidence)
TRDN
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Catecholaminergic polymorphic ventricular tachycardia
Tags
Red Red List (low evidence)
TRH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Thyrotropin-releasing hormone deficiency
Tags
Red Red List (low evidence)
TRHR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Thyrotropin-releasing hormone resistance, generalized
Tags
Red Red List (low evidence)
TRIP11
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Achondrogenesis type 1A
Tags
Red Red List (low evidence)
TRPM2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • ALS and Parkinson's disease
Tags
Red Red List (low evidence)
TSFM
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Combined oxidative phosphorylation deficiency
Tags
Red Red List (low evidence)
TSPEAR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Sensorineural deafness
Tags
Red Red List (low evidence)
TSPYL1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Sudden infant death with dysgenesis of the testes syndrome
Tags
Red Red List (low evidence)
TUBA8
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Polymicrogyria with optic nerve hypoplasia
Tags
Red Red List (low evidence)
UBA1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Spinal muscular atrophy, X-linked infantile
Tags
Red Red List (low evidence)
UCP2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hyperinsulinism
Tags
Red Red List (low evidence)
UGT1A4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Crigler-Najjar syndrome
Tags
Red Red List (low evidence)
UGT1A5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • UDP glucuronosyltransferase deficiency
Tags
Red Red List (low evidence)
UQCRB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Mitochondrial complex III deficiency
Tags
Red Red List (low evidence)
UQCRQ
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Mitochondrial complex III deficiency
Tags
Red Red List (low evidence)
UTP4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • North American Indian childhood cirrhosis
Tags
Red Red List (low evidence)
VAMP1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Spastic ataxia
Tags
Red Red List (low evidence)
VPS53
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Progressive cerebello-cerebral atrophy
Tags
Red Red List (low evidence)
VSX1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Keratoconus
Tags
Red Red List (low evidence)
WDR19
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Nephronophthisis
Tags
Red Red List (low evidence)
WDR35
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Cranioectodermal dysplasia
Tags
Red Red List (low evidence)
WDR36
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Glaucoma
Tags
Red Red List (low evidence)
WNK1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type I
Tags
Red Red List (low evidence)
WNT3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Tetra-amelia, autosomal recessive
Tags
Red Red List (low evidence)
WNT5A
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Robinow syndrome
Tags
Red Red List (low evidence)
WNT7A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Ulna and fibula absence of with severe limb deficiency
Tags
Red Red List (low evidence)
YARS2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Myopathy, lactic acidosis, and sideroblastic anemia
Tags
Red Red List (low evidence)
ZFPM2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Tetralogy of Fallot
Tags
Red Red List (low evidence)
ZNF252P
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hypothyroidism
Tags
Red Red List (low evidence)
ZNF674
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Mental retardation
Tags
No list No list
LMX1A
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Deafness MIM#601412
Tags
No list No list
MPZL2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Deafness, autosomal recessive 111, MIM#618145
Tags
No list No list
OSBPL2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Deafness, autosomal dominant 67, MIM# 616340
Tags

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