PanelApp (test)
  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

3 reviewers

  • Zornitza Stark (Victorian Clinical Genetics Services)

  • Lilian Downie (Victorian Clinical Genetics Services)

  • Kristin Rigbye (Victorian Clinical Genetics Services)

414 Entities

reviewed, green

List Entity Reviews Mode of inheritance Details
414 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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
PCCA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Propionicacidemia
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
RAG1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Omenn 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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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

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