Description
This panel has been curated for use by the BabyScreen+ newborn screening project.

Criteria used in condition selection:
-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.
-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)
-Disease onset: exclusively or predominantly in childhood (<5 years)
-Disease severity: causing significant morbidity or mortality
-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)

Desirable: non-genetic confirmatory testing available

Sources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).

10 reviewers

  • John Christodoulou (Murdoch Children's Research Institute)

  • David Amor (Murdoch Children's Research Institute)

  • Alison Yeung (Victorian Clinical Genetics Services)

  • Ari Horton (Monash Genetics)

  • Lilian Downie (Victorian Clinical Genetics Services)

  • Seb Lunke (Victorian Clinical Genetics Services)

  • Melanie Marty (Victorian Clinical Genetics Services)

  • Santosh Varughese (University of Melbourne)

  • Carolyn Bursle (Other)

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

1722 Entities

1279 reviewed, 605 green

List Entity Reviews Mode of inheritance Details
1722 Entitiess
Green Green List (high evidence)
AAAS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Achalasia-addisonianism-alacrimia syndrome, MIM#231550
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
ABCC6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Arterial calcification, generalized, of infancy, 2, #MIM614473
Tags
  • for review
  • treatable
Green Green List (high evidence)
ABCC8
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Hyperinsulinemic hypoglycemia, familial, MIM#256450
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
ABCD1
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Adrenoleukodystrophy, MIM# 300100
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
ABCD4
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblJ type MIM#614857
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
ABCG5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Sitosterolaemia 2, MIM# 618666
Tags
  • clinical trial
  • metabolic
  • treatable
Green Green List (high evidence)
ACAD9
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 20, MIM#611126
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
ACADM
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Medium chain acyl CoA dehydrogenase deficiency, MIM#201450
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
ACADVL
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • VLCAD deficiency, MIM#201475
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
ACAT1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Alpha-methylacetoacetic aciduria, MIM#203750
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
ACTA2
2 reviews
2 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • BabySeq Category B gene
  • Expert Review Green
Phenotypes
  • Aortic aneurysm, familial thoracic 6, MIM# 611788
Tags
  • cardiac
  • treatable
Green Green List (high evidence)
ACVRL1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 2, MIM#600376
Tags
  • treatable
  • vascular
Green Green List (high evidence)
ADA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Severe combined immunodeficiency due to ADA deficiency, MIM# 102700, MONDO:0007064
Tags
  • clinical trial
  • immunological
  • treatable
Green Green List (high evidence)
ADA2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688
Tags
  • immunological
  • treatable
Green Green List (high evidence)
ADAMTS13
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Thrombotic thrombocytopenic purpura, familial, MIM#274150
Tags
  • haematological
  • treatable
Green Green List (high evidence)
ADGRV1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Usher syndrome, type 2C, MIM# 605472
Tags
  • deafness
Green Green List (high evidence)
AGL
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Glycogen storage disease IIIa, MIM#232400
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
AGRN
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, MIM# 615120
Tags
  • clinical trial
  • neurological
  • treatable
Green Green List (high evidence)
AGXT
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hyperoxaluria, primary, type 1, MIM# 259900, MONDO:0009823
Tags
  • clinical trial
  • metabolic
  • treatable
Green Green List (high evidence)
AHCY
3 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM# 613752
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
AICDA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Immunodeficiency with hyper-IgM, type 2, MIM# 605258
Tags
  • immunological
  • treatable
Green Green List (high evidence)
AIRE
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#240300
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
AK2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Reticular dysgenesis, MIM# 267500
  • MONDO:0009973
Tags
  • haematological
  • treatable
Green Green List (high evidence)
AKR1D1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Bile acid synthesis defect, congenital, 2
Tags
  • GI
  • treatable
Green Green List (high evidence)
ALDH4A1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Hyperprolinemia, type II MIM#239510
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
ALDH7A1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert list
  • Expert Review Green
Phenotypes
  • Epilepsy, pyridoxine-dependent, MIM# 266100
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
ALDOB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Fructose intolerance, hereditary, MIM# 229600
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
ALPL
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Hypophosphatasia, childhood OMIM#241510
  • Hypophosphatasia, infantile OMIM#241500
Tags
  • skeletal
  • treatable
Green Green List (high evidence)
AMACR
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Bile acid synthesis defect, congenital, 4, MIM# 214950
Tags
  • liver
  • treatable
Green Green List (high evidence)
AMN
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Megaloblastic anemia-1, Norwegian type, MIM#618882
Tags
  • haematological
  • treatable
Green Green List (high evidence)
AP3B1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hermansky-Pudlak syndrome 2, MIM# 608233 MONDO:0011997
Tags
  • clinical trial
  • haematological
  • treatable
Green Green List (high evidence)
AQP2
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Diabetes insipidus, nephrogenic, 2, MIM#125800
Tags
  • clinical trial
  • endocrine
  • treatable
Green Green List (high evidence)
ARG1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Arginase deficiency, MIM#207800
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
ARPC1B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, MIM#617718
Tags
  • immunological
  • treatable
Green Green List (high evidence)
ARSA
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Metachromatic leukodystrophy, MIM# 250100
Tags
  • clinical trial
  • metabolic
  • treatable
Green Green List (high evidence)
ARSB
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Mucopolysaccharidosis VI (MPS6, MIM# 253200
Tags
  • clinical trial
  • metabolic
  • treatable
Green Green List (high evidence)
ASL
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Argininosuccinic aciduria, MIM#207900
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
ASS1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Citrullinaemia, MIM#215700
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
ATP6V0A4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Distal renal tubular acidosis 3, with or without sensorineural hearing loss, MIM3 602722
Tags
  • renal
  • treatable
Green Green List (high evidence)
ATP6V1B1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300
Tags
  • renal
  • treatable
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
  • metabolic
  • treatable
Green Green List (high evidence)
ATP7B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Wilson disease MIM#277900
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
AVP
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Diabetes insipidus, neurohypophyseal MIM#125700
Tags
  • clinical trial
  • endocrine
  • treatable
Green Green List (high evidence)
AVPR2
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Diabetes insipidus, nephrogenic, MIM#304800
Tags
  • clinical trial
  • endocrine
  • SV/CNV
  • treatable
Green Green List (high evidence)
BCHE
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Butyrylcholinesterase deficiency, MIM# 617936
Tags
  • pharmacogenomic
Green Green List (high evidence)
BCKDHA
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Maple syrup urine disease, type Ia, MIM# 248600
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
BCKDHB
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Maple syrup urine disease, type Ib, MIM# 248600
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
BCKDK
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Branched-chain keto acid dehydrogenase kinase deficiency, MIM# 614923
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
BLNK
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Agammaglobulinaemia 4, MIM#613502
Tags
  • immunological
  • treatable
Green Green List (high evidence)
BMP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Osteogenesis imperfecta, type XIII , MIM#614856
Tags
  • skeletal
Green Green List (high evidence)
BRCA1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Fanconi anemia, complementation group S, MIM# 617883
Tags
  • haematological
  • treatable
Green Green List (high evidence)
BRCA2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BabySeq Category C gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Fanconi anaemia, complementation group D1, MIM# 605724
Tags
  • haematological
  • treatable
Green Green List (high evidence)
BRIP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Fanconi anaemia, complementation group J, MIM# 609054
Tags
  • haematological
  • treatable
Green Green List (high evidence)
BSCL2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Lipodystrophy, congenital generalized, type 2, MIM# 269700
  • Berardinelli-Seip lipodystrophy
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
BSND
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Bartter syndrome, type 4a, MIM# 602522
Tags
  • renal
  • treatable
Green Green List (high evidence)
BTD
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Biotinidase deficiency, MIM#253260
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
BTK
2 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Agammaglobulinemia, X-linked 1, MIM#300755
Tags
  • immunological
  • treatable
Green Green List (high evidence)
C17orf62
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Chronic granulomatous disease 5, autosomal recessive, MIM# 618935
Tags
  • immunological
  • new gene name
  • treatable
Green Green List (high evidence)
C2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • C2 deficiency, MIM# 217000
Tags
  • immunological
  • treatable
Green Green List (high evidence)
C3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • C3 deficiency, MIM# 613779
Tags
  • immunological
  • treatable
Green Green List (high evidence)
C5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • C5 deficiency, MIM# 609536
Tags
  • immunological
  • treatable
Green Green List (high evidence)
C6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • C6 deficiency, MIM# 612446
Tags
  • immunological
  • treatable
Green Green List (high evidence)
C7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • C7 deficiency, MIM# 610102
Tags
  • immunological
  • treatable
Green Green List (high evidence)
C8B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • C8 deficiency, type II, MIM# 613789
Tags
  • immunological
  • treatable
Green Green List (high evidence)
C9
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • C9 deficiency, MIM# 613825
Tags
  • immunological
  • treatable
Green Green List (high evidence)
CA12
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Hyperchlorhidrosis, isolated MIM#143860
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
CA2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730
Tags
  • skeletal
  • treatable
Green Green List (high evidence)
CA5A
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Hyperammonaemia due to carbonic anhydrase VA deficiency, MIM# 615751
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
CABP2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 93, MIM# 614899
Tags
  • deafness
Green Green List (high evidence)
CACNA1S
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Malignant hyperthermia susceptibility 5, MIM# 601887
Tags
  • pharmacogenomic
Green Green List (high evidence)
CAD
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Developmental and epileptic encephalopathy 50, MIM# 616457
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
CALM3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Long QT syndrome 16, MIM#618782
Tags
  • cardiac
  • treatable
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, autosomal recessive, MIM# 615206
  • Immunodeficiency 11B with atopic dermatitis, autosomal dominant, MIM# 617638
Tags
  • immunological
  • treatable
Green Green List (high evidence)
CASR
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Hypocalcemia, autosomal dominant MIM#601198
  • Hyperparathyroidism, neonatal MIM#239200
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
CAV1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Lipodystrophy, congenital generalized, type 3, MIM# 612526
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
CAVIN1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Lipodystrophy, congenital generalized, type 4, MIM# 613327
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
CBS
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Homocystinuria (MIM# 236200)
Tags
  • for review
  • treatable
Green Green List (high evidence)
CD19
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency, common variable, 3, MIM# 613493
Tags
  • immunological
  • treatable
Green Green List (high evidence)
CD247
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Immunodeficiency 25, MIM# 610163
Tags
  • immunological
  • treatable
Green Green List (high evidence)
CD27
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • CD27-deficiency MIM# 615122
Tags
  • immunological
  • treatable
Green Green List (high evidence)
CD3D
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency 19, MIM# 615617
Tags
  • immunological
  • treatable
Green Green List (high evidence)
CD3E
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Immunodeficiency 18, MIM# 615615
Tags
  • immunological
  • treatable
Green Green List (high evidence)
CD3G
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency 17
  • CD3 gamma deficient MIM# 615607
Tags
  • immunological
  • treatable
Green Green List (high evidence)
CD40
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency with hyper-IgM, type 3, MIM# 606843
Tags
  • immunological
  • treatable
Green Green List (high evidence)
CD40LG
1 review
1 green
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 MIM# 308230
Tags
  • immunological
  • treatable
Green Green List (high evidence)
CD55
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, MIM# 226300
Tags
  • immunological
  • treatable
Green Green List (high evidence)
CD70
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Lymphoproliferative syndrome 3, MIM# 618261
Tags
  • immunological
  • treatable
Green Green List (high evidence)
CD79A
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Agammaglobulinaemia 3, MIM# 613501
Tags
  • immunological
  • treatable
Green Green List (high evidence)
CD79B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Agammaglobulinaemia 6, MIM# 612692
Tags
  • immunological
  • treatable
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
  • deafness
Green Green List (high evidence)
CDCA7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 3, MIM# 616910
Tags
  • immunological
  • treatable
Green Green List (high evidence)
CDCA8
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Congenital hypothyroidism, MONDO:0018612, CDCA8-related
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
CDH23
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Usher syndrome, type 1D (MIM# 601067)
  • Deafness, autosomal recessive 12 (MIM # 601386)
  • Usher syndrome, type 1D/F digenic (MIM #601067)
Tags
  • deafness
Green Green List (high evidence)
CDKN1C
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • IMAGe syndrome, MIM# 614732
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
CEBPE
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Specific granule deficiency, MIM# 245480
Tags
  • immunological
  • treatable
Green Green List (high evidence)
CFD
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Complement factor D deficiency, MIM# 613912
Tags
  • immunological
  • treatable
Green Green List (high evidence)
CFH
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Complement factor H deficiency, MIM# 609814
Tags
  • immunological
  • treatable
Green Green List (high evidence)
CFI
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Complement factor I deficiency MIM#610984
Tags
Green Green List (high evidence)
CFP
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Properdin deficiency, X-linked, MIM#312060
Tags
  • immunological
  • treatable
Green Green List (high evidence)
CFTR
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Cystic fibrosis, MIM#219700
Tags
  • respiratory
  • treatable
Green Green List (high evidence)
CHAT
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS:BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Congenital myasthenic syndrome, MIM#254210
Tags
  • neurological
  • treatable
Green Green List (high evidence)
CHRNA1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462
  • Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930
Tags
  • neurological
  • treatable
Green Green List (high evidence)
CHRNB1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, MIM# 616314
  • Congenital myasthenic syndrome
Tags
  • neurological
  • treatable
Green Green List (high evidence)
CHRND
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Myasthenic syndrome, congenital, 3B, fast-channel, MIM#616322
  • Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, MIM#616323
  • Myasthenic syndrome, congenital, 3A, slow-channel, MIM#616321
  • Multiple pterygium syndrome, lethal type, MIM# 253290
  • MONDO:0009668
Tags
  • neurological
  • treatable
Green Green List (high evidence)
CHRNE
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Myasthenic syndrome, congenital, 4B, fast-channel, 616324
  • Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931
  • Myasthenic syndrome, slow-channel congenital, 601462
  • Myasthenic syndrome, congenital, 4A, slow-channel, 605809
Tags
  • neurological
  • treatable
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
  • deafness
Green Green List (high evidence)
CIITA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Bare Lymphocyte Syndrome, type II, complementation group A MIM# 209920
Tags
  • immunological
  • treatable
Green Green List (high evidence)
CLCN7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Osteopetrosis, autosomal recessive 4, MIM# 611490
Tags
  • skeletal
  • treatable
Green Green List (high evidence)
CLDN14
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 29, MIM# 614035
Tags
  • deafness
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
  • metabolic
  • treatable
Green Green List (high evidence)
COCH
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 110, MIM# 618094
Tags
  • deafness
Green Green List (high evidence)
COL11A1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Stickler syndrome, type II, MIM# 604841
Tags
  • ophthalmological
  • treatable
Green Green List (high evidence)
COL11A2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 53, MIM# 609706
Tags
  • deafness
Green Green List (high evidence)
COL13A1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Myasthenic syndrome, congenital, 19, MIM# 616720
Tags
  • neurological
  • treatable
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, MIM#166200
Tags
  • skeletal
  • treatable
Green Green List (high evidence)
COL1A2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Osteogenesis imperfecta, type II , MIM#166210
Tags
  • skeletal
  • treatable
Green Green List (high evidence)
COL2A1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Stickler syndrome, type I, MIM# 108300
Tags
  • ophthalmological
  • treatable
Green Green List (high evidence)
COL4A3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Alport syndrome 2, autosomal recessive, MIM# 203780
Tags
  • renal
  • treatable
Green Green List (high evidence)
COL4A4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Alport syndrome 2, autosomal recessive MIM#203780
Tags
  • renal
  • treatable
Green Green List (high evidence)
COL4A5
1 review
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Alport syndrome 1, X-linked, MIM# 301050
Tags
  • renal
  • treatable
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
  • ophthalmological
  • treatable
Green Green List (high evidence)
COL9A2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Stickler syndrome, type V, MIM# 614284
Tags
  • ophthalmological
  • treatable
Green Green List (high evidence)
COL9A3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Stickler syndrome, type VI, MIM# 620022
Tags
  • for review
Green Green List (high evidence)
COLQ
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Congenital myasthenic syndrome, MIM#603034
Tags
  • clinical trial
  • neurological
  • treatable
Green Green List (high evidence)
COQ2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Coenzyme Q10 deficiency, primary, 1, MIM# 607426
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
COQ4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Coenzyme Q10 deficiency, primary, 7, MIM# 616276
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
COQ6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Coenzyme Q10 deficiency, primary, 6, MIM# 614650
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
COQ8A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Coenzyme Q10 deficiency, primary, 4, MIM# 612016
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
CORO1A
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency 8 MIM# 615401
Tags
  • immunological
  • technically challenging
  • treatable
Green Green List (high evidence)
CPS1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Carbamoylphosphate synthetase I deficiency, MIM#237300
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
CPT1A
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Carnitine palmitoyltransferase I deficiency, MIM#255120
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
CPT2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • CPT II deficiency, infantile 600649
  • CPT II deficiency, lethal neonatal 608836
  • CPT II deficiency, myopathic, stress-induced 255110
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
CRTAP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Osteogenesis imperfecta, type VII, MIM# MIM#610682
Tags
  • skeletal
  • treatable
Green Green List (high evidence)
CSF3R
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Neutropenia, severe congenital, 7, autosomal recessive , MIM#617014
Tags
  • immunological
  • treatable
Green Green List (high evidence)
CTNS
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Cystinosis, nephropathic MIM#219800
Tags
  • renal
  • treatable
Green Green List (high evidence)
CTPS1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Immunodeficiency 24, MIM# 615897
Tags
  • immunological
  • treatable
Green Green List (high evidence)
CUBN
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Megaloblastic anaemia-1, Finnish type, MIM#261100
Tags
  • haematological
  • treatable
Green Green List (high evidence)
CUL3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Pseudohypoaldosteronism, type IIE 614496
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
CXCR4
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • WHIM syndrome 1, MIM# 193670
Tags
  • immunological
  • treatable
Green Green List (high evidence)
CYB561
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Orthostatic hypotension 2, MIM# 618182
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
CYBA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Chronic granulomatous disease, MIM#233690
Tags
  • immunological
  • treatable
Green Green List (high evidence)
CYBB
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Chronic granulomatous disease, MIM#306400
Tags
  • immunological
  • treatable
Green Green List (high evidence)
CYP11A1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM#613743
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
CYP11B1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM#202010
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
CYP11B2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Hypoaldosteronism, congenital, due to CMO I deficiency, MIM# 203400
  • Hypoaldosteronism, congenital, due to CMO II deficiency, MIM# 610600
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
CYP17A1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • 17,20-lyase deficiency, isolated , MIM#202110
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
CYP21A2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, MIM#201910
Tags
  • endocrine
  • technically challenging
  • treatable
Green Green List (high evidence)
CYP27A1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Cerebrotendinous xanthomatosis, MIM# 213700
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
CYP27B1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Vitamin D-dependent rickets, type I MIM#264700
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
CYP2R1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Rickets due to defect in vitamin D 25-hydroxylation deficiency MIM#600081
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
CYP7B1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Bile acid synthesis defect, congenital, 3, MIM# 613812
Tags
  • liver
  • treatable
Green Green List (high evidence)
DBT
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Maple syrup urine disease, MIM#248600
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
DCLRE1C
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Severe combined immunodeficiency, Athabascan type MIM# 602450
  • Omenn syndrome, MIM# 603554
Tags
  • immunological
  • treatable
Green Green List (high evidence)
DDC
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Aromatic L-amino acid decarboxylase deficiency, MIM#608643
Tags
  • clinical trial
  • metabolic
  • treatable
Green Green List (high evidence)
DFNB59
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 59, MIM# 610220
Tags
  • deafness
  • new gene name
Green Green List (high evidence)
DGAT1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Diarrhea 7, protein-losing enteropathy type , MIM# 615863
Tags
  • gastrointestinal
  • treatable
Green Green List (high evidence)
DHCR7
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Smith-Lemli-Opitz syndrome, MIM#270400
Tags
  • metabolic
Green Green List (high evidence)
DHFR
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Megaloblastic anaemia due to dihydrofolate reductase deficiency, MIM# 613839
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
DICER1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • DICER1 syndrome, MONDO:0017288
Tags
  • cancer
  • treatable
Green Green List (high evidence)
DLAT
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Pyruvate dehydrogenase E2 deficiency, MIM# 245348
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
DMP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hypophosphatemic rickets MIM#241520
Tags
  • skeletal
  • treatable
Green Green List (high evidence)
DNAJC12
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
DNAJC21
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Bone marrow failure syndrome 3, MIM# 617052
Tags
  • haematological
  • treatable
Green Green List (high evidence)
DNASE2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Autoinflammatory-pancytopenia syndrome, MIM# 619858
Tags
  • immunological
  • treatable
Green Green List (high evidence)
DNMT3B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 1, MIM# 242860
Tags
  • immunological
  • treatable
Green Green List (high evidence)
DOCK2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Immunodeficiency 40 MIM# 616433
Tags
  • immunological
  • treatable
Green Green List (high evidence)
DOCK8
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BegniNGS
  • Expert Review Green
Phenotypes
  • Hyper-IgE syndrome, MIM#243700
Tags
  • immunological
  • treatable
Green Green List (high evidence)
DOK7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Congenital myasthenic syndrome, MIM# 254300
Tags
  • neurological
  • treatable
Green Green List (high evidence)
DPAGT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Ij, MIM# 608093
  • DPAGT1-CDG MONDO:0011964
  • Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750
Tags
  • neurological
  • treatable
Green Green List (high evidence)
DUOX2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Thyroid dyshormonogenesis 6, MIM# 607200
Tags
  • endocrine
  • treatable
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
  • endocrine
  • treatable
Green Green List (high evidence)
ECHS1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency MIM# 616277
Tags
  • metabolic
  • treatable
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, type 4B, MIM# 613265
Tags
  • deafness
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
  • deafness
Green Green List (high evidence)
EFL1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Shwachman-Diamond syndrome 2, MIM# 617941
Tags
  • gastrointestinal
Green Green List (high evidence)
EIF2AK3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Wolcott-Rallison syndrome, MIM#226980
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
ELANE
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Neutropenia, congenital, MIM#202700
Tags
  • immunological
  • treatable
Green Green List (high evidence)
ENG
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 1 MIM#187300
Tags
  • treatable
  • vascular
Green Green List (high evidence)
ENPP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Arterial calcification, generalized, of infancy, 1, MIM# 208000
  • Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312
Tags
  • endocrine
  • treatable
  • vascular
Green Green List (high evidence)
EPS8
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Autosomal recessive nonsyndromic hearing loss 102, MIM#600205, MONDO:0014428
Tags
  • deafness
Green Green List (high evidence)
ERCC4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Fanconi anemia, complementation group Q, MIM# 615272
Tags
  • haematological
  • treatable
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
  • deafness
Green Green List (high evidence)
ESRRB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 35, MIM#608565
Tags
  • deafness
Green Green List (high evidence)
ETFA
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Glutaric acidaemia IIA, MIM#231680
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
ETFB
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Glutaric acidemia IIB, MIM#231680
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
ETFDH
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Glutaric acidemia IIC, MIM#231680
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
ETHE1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Ethylmalonic encephalopathy, MIM#602473
Tags
  • metabolic
  • treatable
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
  • haematological
  • treatable
Green Green List (high evidence)
F13A1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert list
  • Expert Review Green
Phenotypes
  • Factor XIIIA deficiency, MIM# 613225
Tags
  • haematological
  • treatable
Green Green List (high evidence)
F13B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert list
  • Expert Review Green
Phenotypes
  • Factor XIIIB deficiency, MIM#613235
Tags
  • haematological
  • treatable
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
  • haematological
  • treatable
Green Green List (high evidence)
F9
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Haemophilia B, MIM#306900
Tags
  • haematological
  • treatable
Green Green List (high evidence)
FAH
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Tyrosinaemia, type I, MIM#276700
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
FAM111A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Kenny-Caffey syndrome, type 2, MIM# 127000
Tags
  • skeletal
  • treatable
Green Green List (high evidence)
FANCA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Fanconi anaemia, complementation group A, MIM# 227650
  • MONDO:0009215
Tags
  • haematological
  • treatable
Green Green List (high evidence)
FANCB
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Fanconi anaemia, complementation group B, MIM# 300514
Tags
  • haematological
  • treatable
Green Green List (high evidence)
FANCC
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Fanconi anemia, complementation group C, MIM# 227645
  • MONDO:0009213
Tags
  • haematological
  • treatable
Green Green List (high evidence)
FANCD2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Fanconi anaemia, complementation group D2, MIM# 227646
  • MONDO:0009214
Tags
  • haematological
  • treatable
Green Green List (high evidence)
FANCG
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Fanconi anaemia, MIM#614082
Tags
  • haematological
  • treatable
Green Green List (high evidence)
FANCI
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Fanconi anaemia, MIM#609053
Tags
  • haematological
  • treatable
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 syndrome, MIM# 154700
Tags
  • cardiac
  • treatable
Green Green List (high evidence)
FBP1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert list
  • Expert Review Green
Phenotypes
  • Fructose-1,6-bisphosphatase deficiency MIM# 229700
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
FCHO1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency 76, MIM# 619164
Tags
  • immunological
  • treatable
Green Green List (high evidence)
FECH
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Protoporphyria, erythropoietic, 1, MIM# 177000
Tags
  • haematological
  • treatable
Green Green List (high evidence)
FERMT3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Leukocyte adhesion deficiency, type III, MIM# 612840
Tags
  • immunological
  • treatable
Green Green List (high evidence)
FGA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Afibrinogenemia, congenital (MIM#202400)
Tags
  • haematological
  • treatable
Green Green List (high evidence)
FGB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Afibrinogenaemia, congenital, MIM# 202400
Tags
  • haematological
  • treatable
Green Green List (high evidence)
FGF23
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • autosomal dominant hypophosphatemic rickets MONDO:0008660
  • familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0100251
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
FGF3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM# 610706
Tags
  • deafness
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
  • Achondroplasia MONDO:0007037
Tags
  • clinical trial
  • for review
  • skeletal
  • treatable
Green Green List (high evidence)
FGG
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Afibrinogenemia, congenital, MIM# 202400
Tags
  • haematological
  • treatable
Green Green List (high evidence)
FH
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Fumurase deficiency MIM# 606812
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
FKBP10
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Osteogenesis imperfecta, type XI, OMIM:610968
Tags
  • skeletal
  • treatable
Green Green List (high evidence)
FLAD1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, MIM# 255100
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
FOLR1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
FOXA2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Hyperinsulinism MONDO:0002177
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
FOXE1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Bamforth-Lazarus syndrome MIM# 241850
Tags
  • deafness
  • endocrine
  • treatable
Green Green List (high evidence)
FOXN1
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • T-cell immunodeficiency, congenital alopecia, and nail dystrophy, autosomal recessive MIM# 601705
  • T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant, MIM#t 618806
Tags
  • immunological
  • treatable
Green Green List (high evidence)
FOXP3
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • IPEX syndrome, MIM#304790
Tags
  • immunological
  • treatable
Green Green List (high evidence)
FUCA1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Fucosidosis, MIM# 230000
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
G6PC
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Glycogen storage disease Ia, MIM#232200
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
G6PC3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Neutropaenia, congenital, MIM#612541
Tags
  • immunological
  • treatable
Green Green List (high evidence)
G6PD
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Glucose-6-phosphate dehydrogenase deficiency, MIM#300908
Tags
  • haematological
  • treatable
Green Green List (high evidence)
GAA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Glycogen storage disease II, Pompe disease, MIM# 232300
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
GALC
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Krabbe disease, MIM#245200
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
GALE
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Galactose epimerase deficiency , MIM#230350
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
GALK1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Galactokinase deficiency with cataracts, MIM#230200
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
GALM
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Galactosemia IV MIM#618881
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
GALNS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Mucopolysaccharidosis IVA, MIM#253000
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
GALNT3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
GALT
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Galactosaemia, MIM#230400
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
GAMT
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Cerebral creatine deficiency syndrome 2, MIM# 612736
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
GATA2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency 21 MIM# 614172
  • Emberger syndrome MIM# 614038
Tags
  • deafness
  • haematological
  • treatable
Green Green List (high evidence)
GATA3
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255
Tags
  • deafness
  • endocrine
  • treatable
Green Green List (high evidence)
GATA4
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Neonatal diabetes mellitus, MONDO:0016391, GATA4-related
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
GATM
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cerebral creatine deficiency syndrome 3 MIM#612718
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
GBA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Gaucher disease type 1, MIM#230800
Tags
  • metabolic
  • technically challenging
  • treatable
Green Green List (high evidence)
GCDH
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Glutaric aciduria, type I, MIM#231670
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
GCH1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category B gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910
  • Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
GCK
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Hyperinsulinemic hypoglycemia, familial, MIM#602485
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
GCM2
1 review
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Hyperparathyroidism 4, OMIM #617343
  • Hypoparathyroidism, familial isolated 2, OMIM #618883
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
GFI1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Neutropenia, severe congenital 2, autosomal dominant, MIM# 613107
Tags
  • immunological
  • treatable
Green Green List (high evidence)
GGCX
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Vitamin K-dependent clotting factors, combined deficiency of, 1 MIM# 277450
Tags
  • haematological
  • treatable
Green Green List (high evidence)
GH1
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Growth hormone deficiency, isolated, type IA, MIM# 262400
  • Growth hormone deficiency, isolated, type II, MIM# 173100
  • Kowarski syndrome, MIM# 262650
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
GHR
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Growth hormone insensitivity, partial, MIM# 604271
  • Laron dwarfism, MIM# 262500
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
GHRHR
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Growth hormone deficiency, isolated, type IV, MIM# 618157
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
GIF
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert list
  • Expert Review Green
Phenotypes
  • Intrinsic factor deficiency, MIM# 261000
Tags
  • haematological
  • new gene name
  • treatable
Green Green List (high evidence)
GIPC3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 15, MIM# 601869
Tags
  • deafness
Green Green List (high evidence)
GJB2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 1A, MIM# 220290
Tags
  • deafness
Green Green List (high evidence)
GLA
2 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Fabry disease (MIM# 301500)
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
GLIS3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Diabetes mellitus, neonatal, with congenital hypothyroidism MIM#610199
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
GLRA1
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Hyperekplexia, hereditary 1, autosomal dominant or recessive, MIM#149400
Tags
  • neurological
  • treatable
Green Green List (high evidence)
GLUD1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Hyperinsulinism, MIM#606762
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
GNAS
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Pseudopseudohypoparathyroidism
  • Pseudohypoparathyroidism
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
GOT2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Developmental and epileptic encephalopathy 82, MIM# 618721
Tags
  • neurological
  • treatable
Green Green List (high evidence)
GPIHBP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hyperlipoproteinemia, type 1D MIM#615947
  • familial chylomicronemia syndrome
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
GREB1L
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Deafness, autosomal dominant 80 MIM#619274
Tags
  • deafness
Green Green List (high evidence)
GRHPR
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hyperoxaluria, primary, type II, MIM# 260000
Tags
  • clinical trial
  • metabolic
  • treatable
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
  • deafness
Green Green List (high evidence)
GUSB
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Mucopolysaccharidosis VII, MIM#253220
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
GYS2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Glycogen storage disease 0, liver (MIM#240600)
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
HADH
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BabySeq Category C gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
HADHA
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Mitochondrial trifunctional protein deficiency, MIM#609015
  • LCHAD deficiency, MIM# 609016
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
HADHB
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Mitochondrial trifunctional protein deficiency, MIM#609015
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
HAX1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738
  • Kostmann syndrome MONDO:0012548
Tags
  • haematological
  • treatable
Green Green List (high evidence)
HBB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Sickle cell anaemia, MIM# 603903
Tags
  • haematological
  • treatable
Green Green List (high evidence)
HELLS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 4, MIM# 616911
Tags
  • immunological
  • treatable
Green Green List (high evidence)
HESX1
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Pituitary hormone deficiency, combined, 5, MIM# 182230
Tags
  • endocrine
  • treatable
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 39, MIM# 608265
Tags
  • deafness
  • deep intronic
  • founder
Green Green List (high evidence)
HIBCH
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • 3-hydroxyisobutryl-CoA hydrolase deficiency MIM#250620
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
HK1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Hyperinsulinism MONDO:0002177, HK1-related
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
HLCS
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Holocarboxylase synthetase deficiency, MIM#253270
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
HMGCL
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • 3-hydroxy-3-methylglutaric aciduria, MIM#246450
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
HOGA1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hyperoxaluria, primary, type III MIM#613616
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
HSD11B2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Apparent mineralocorticoid excess, MIM# 218030
  • MONDO:0009025
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
HSD3B2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert list
  • Expert Review Green
Phenotypes
  • Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency MIM# 201810
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
HSD3B7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Bile acid synthesis defect, congenital, 1 MIM#607765
Tags
  • liver
  • treatable
Green Green List (high evidence)
ICOS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency, common variable, 1 MIM# 607594
Tags
  • immunological
  • treatable
Green Green List (high evidence)
IDS
2 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Mucopolysaccharidosis II (MPS2, Hunter syndrome) 309900
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
IDUA
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Mucopolysaccharidosis type 1, MONDO:0001586
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
IFITM5
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Osteogenesis imperfecta, type V MIM#610967
Tags
  • 5'UTR
  • skeletal
  • treatable
Green Green List (high evidence)
IGF1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Insulin-like growth factor I deficiency, MIM# 608747
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
IGHM
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Agammaglobulinaemia 1, MIM# 601495
Tags
  • immunological
  • technically challenging
  • treatable
Green Green List (high evidence)
IGLL1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Agammaglobulinaemia 2, MIM# 613500
Tags
  • immunological
  • treatable
Green Green List (high evidence)
IGSF1
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hypothyroidism, central, and testicular enlargement, MIM# 300888
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
IKBKB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency 15B, MIM# 615592
Tags
  • immunological
  • treatable
Green Green List (high evidence)
IKZF1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency, common variable, 13 MIM# 616873
Tags
  • immunological
  • treatable
Green Green List (high evidence)
IL10
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Autoinflammatory syndrome, MONDO:0019751, IL10-related
Tags
  • immunological
  • treatable
Green Green List (high evidence)
IL10RA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Inflammatory bowel disease 28, early onset, autosomal recessive, MIM# 613148
Tags
  • immunological
  • treatable
Green Green List (high evidence)
IL10RB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Inflammatory bowel disease 25, early onset, autosomal recessive, MIM# 612567
Tags
  • immunological
  • treatable
Green Green List (high evidence)
IL1RN
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Interleukin 1 receptor antagonist deficiency, MIM# 612852
Tags
  • immunological
  • treatable
Green Green List (high evidence)
IL21R
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency 56, MIM# 615207
Tags
  • immunological
  • treatable
Green Green List (high evidence)
IL2RA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency 41 with lymphoproliferation and autoimmunity, MIM# 606367
Tags
  • immunological
  • treatable
Green Green List (high evidence)
IL2RB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Immunodeficiency 63 with lymphoproliferation and autoimmunity , MIM#618495
Tags
  • immunological
  • treatable
Green Green List (high evidence)
IL2RG
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Severe combined immunodeficiency, X-linked, MIM#312863
Tags
  • immunological
  • treatable
Green Green List (high evidence)
IL36RN
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Psoriasis 14, pustular, MIM# 614204
Tags
  • immunological
  • treatable
Green Green List (high evidence)
IL7R
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert list
  • Expert Review Green
Phenotypes
  • Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM#608971
Tags
  • immunological
  • treatable
Green Green List (high evidence)
ILDR1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 42, MIM# 609646
Tags
  • deafness
Green Green List (high evidence)
INS
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert list
  • Expert Review Green
Phenotypes
  • Diabetes mellitus, insulin-dependent, 2, MIM# 125852
  • Diabetes mellitus, permanent neonatal 4, MIM# 618858
  • Maturity-onset diabetes of the young, type 10, MIM# 613370
Tags
  • endocrine
  • for review
  • treatable
Green Green List (high evidence)
IRAK4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Immunodeficiency 67, MIM# 607676
Tags
  • immunological
  • treatable
Green Green List (high evidence)
IRF8
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, MIM# 226990
Tags
  • immunological
  • treatable
Green Green List (high evidence)
IRS4
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hypothyroidism, congenital, nongoitrous, 9, MIM# 301035
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
ITGA2B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Glanzmann thrombasthaenia 1, MIM# 273800
Tags
  • haematological
  • treatable
Green Green List (high evidence)
ITGB2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Leukocyte adhesion deficiency, MIM# 116920
Tags
  • immunological
  • treatable
Green Green List (high evidence)
ITGB3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Glanzmann thrombasthenia 2, MIM# 619267
Tags
  • haematological
  • treatable
Green Green List (high evidence)
ITK
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Lymphoproliferative syndrome 1, MIM# 613011
Tags
  • immunological
  • treatable
Green Green List (high evidence)
IVD
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Isovaleric acidemia, MIM#243500
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
IYD
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Thyroid dyshormonogenesis 4, MIM# 274800
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
JAGN1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Neutropenia, severe congenital, 6, autosomal recessive, MIM# 616022
Tags
  • immunological
  • treatable
Green Green List (high evidence)
JAK3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • SCID, autosomal recessive, T-negative/B-positive type, MIM#600802
Tags
  • immunological
  • treatable
Green Green List (high evidence)
KCNH2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Green
Phenotypes
  • Long QT syndrome 2, MIM# 613688
Tags
  • cardiac
  • treatable
Green Green List (high evidence)
KCNJ1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Bartter syndrome, type 2, 241200
Tags
  • renal
  • treatable
Green Green List (high evidence)
KCNJ11
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Diabetes mellitus, transient neonatal, 3 610582
  • Diabetes, permanent neonatal, with or without neurologic features 606176
  • Hyperinsulinemic hypoglycemia, familial, 2 601820
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
KCNJ2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Andersen syndrome MIM#170390
Tags
  • cardiac
  • treatable
Green Green List (high evidence)
KCNQ1
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BabySeq Category B gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Jervell and Lange-Nielsen syndrome MIM#220400
  • Long QT syndrome 1, MIM# 192500
Tags
  • cardiac
  • deafness
  • treatable
Green Green List (high evidence)
KDELR2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Osteogenesis imperfecta 21, MIM# 619131
Tags
  • skeletal
  • treatable
Green Green List (high evidence)
KLHL3
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Pseudohypoaldosteronism, type IID, MIM# 614495
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
LAMA2
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855
Tags
  • pharmacogenomic
Green Green List (high evidence)
LAT
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency 52, MIM# 617514
Tags
  • immunological
  • treatable
Green Green List (high evidence)
LDLR
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hypercholesterolemia, familial, 1, MIM# 143890
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
LEP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Obesity, morbid, due to leptin deficiency (MIM#614962)
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
LEPR
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Obesity, morbid, due to leptin receptor deficiency (MIM#614963)
Tags
  • clinical trial
  • endocrine
  • treatable
Green Green List (high evidence)
LHFPL5
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 67, MIM# 610265
Tags
  • deafness
Green Green List (high evidence)
LHX3
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Pituitary hormone deficiency, combined, MIM#221750
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
LHX4
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Pituitary hormone deficiency, combined, 4, MIM# 262700
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
LIG1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency 96, MIM# 619774
Tags
  • immunological
  • treatable
Green Green List (high evidence)
LIG4
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • LIG4 syndrome, MIM# 606593
Tags
  • immunological
  • treatable
Green Green List (high evidence)
LIPA
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Wolman syndrome, MIM#278000
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
LMBRD1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Methylmalonic aciduria and homocystinuria, MIM#277380
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
LOXHD1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 77, MIM# 613079
Tags
  • deafness
Green Green List (high evidence)
LPL
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Lipoprotein lipase deficiency, MIM# 238600
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
LRBA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency, common variable, 8, with autoimmunity MIM# 614700
Tags
  • immunological
  • treatable
Green Green List (high evidence)
LRP5
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Osteoporosis-pseudoglioma syndrome, MIM# 259770
Tags
  • skeletal
  • treatable
Green Green List (high evidence)
LRTOMT
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 63, MIM# 611451
Tags
  • deafness
Green Green List (high evidence)
LYST
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Chediak-Higashi syndrome, MIM#214500
Tags
  • immunological
  • treatable
Green Green List (high evidence)
MAFB
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Multicentric carpotarsal osteolysis syndrome (MIM#166300)
Tags
  • for review
Green Green List (high evidence)
MAGT1
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (MIM# 300853)
Tags
  • immunological
  • treatable
Green Green List (high evidence)
MALT1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency 12 MIM# 615468
Tags
  • immunological
  • treatable
Green Green List (high evidence)
MAN2B1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Mannosidosis, alpha-, types I and II, MIM# 248500
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
MARVELD2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 49, MIM# 610153
Tags
  • deafness
Green Green List (high evidence)
MC2R
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Glucocorticoid deficiency, due to ACTH unresponsiveness, MIM# 202200
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
MCEE
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Methylmalonyl-CoA epimerase deficiency MIM#251120
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
MEFV
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Familial Mediterranean fever MIM# 249100
Tags
  • haematological
  • treatable
Green Green List (high evidence)
MESD
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Osteogenesis imperfecta, type XX, MIM# 618644
Tags
  • skeletal
  • treatable
Green Green List (high evidence)
MITF
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Waardenburg syndrome, type 2A, MIM# 193510
  • Deafness
Tags
  • deafness
Green Green List (high evidence)
MLH1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Mismatch repair cancer syndrome 1, MIM# 276300
Tags
  • cancer
  • treatable
Green Green List (high evidence)
MLYCD
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Malonyl-CoA decarboxylase deficiency, MIM# 248360
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
MMAA
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Methylmalonic aciduria, vitamin B12-responsive, MIM#251100
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
MMAB
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, MIM#251110
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
MMACHC
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
MMADHC
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblD type, MIM#277410
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
MNX1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Permanent neonatal diabetes mellitus, MONDO:0100164, MNX1-related
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
MOCS1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Molybdenum cofactor deficiency, MIM#252150
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
MPI
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Ib, MIM# 602579
Tags
  • metabolic
Green Green List (high evidence)
MPL
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Thrombocytopenia, congenital amegakaryocytic, MIM# 604498
Tags
  • haematological
  • treatable
Green Green List (high evidence)
MRAP
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Glucocorticoid deficiency 2, MIM# 607398
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
MSH2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Mismatch repair cancer syndrome 2, MIM# 619096
Tags
  • cancer
  • treatable
Green Green List (high evidence)
MSH6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Mismatch repair cancer syndrome 3, MIM# 619097
Tags
  • cancer
  • treatable
Green Green List (high evidence)
MT-RNR1
1 review
1 green
MITOCHONDRIAL
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Aminoglycoside sensitivity
Tags
  • pharmacogenomic
Green Green List (high evidence)
MTHFD1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinaemia MIM # 617780
Tags
  • haematological
  • immunological
  • treatable
Green Green List (high evidence)
MTR
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Homocystinuria-megaloblastic anaemia, cblG complementation type, MIM# 250940
Tags
  • haematological
  • treatable
Green Green List (high evidence)
MTRR
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Methylmalonic aciduria and homocystinuria, MIM#236270
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
MTTP
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Abetalipoproteinemia, MIM# 200100
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
MUSK
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS:BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Congenital myasthenic syndrome, MIM#616325
Tags
  • neurological
  • treatable
Green Green List (high evidence)
MUT
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Methylmalonic aciduria, mut(0) type, MIM# 251000
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
MVK
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Mevalonic aciduria, MIM# 610377
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
MYD88
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency 68, MIM# 612260
Tags
  • immunological
  • treatable
Green Green List (high evidence)
MYH7
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BabySeq Category B gene
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Cardiomyopathy, hypertrophic, 1, MIM# 192600
Tags
  • cardiac
  • treatable
Green Green List (high evidence)
MYO15A
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 3, MIM# 600316
Tags
  • deafness
Green Green List (high evidence)
MYO3A
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 30, MIM:607101
Tags
  • deafness
Green Green List (high evidence)
MYO6
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 37, MIM# 607821
Tags
  • deafness
Green Green List (high evidence)
MYO7A
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 2, 600060
  • Usher syndrome, type 1B, MIM# 276900
Tags
  • deafness
Green Green List (high evidence)
MYSM1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Bone marrow failure syndrome 4, MIM# 618116
Tags
  • haematological
  • treatable
Green Green List (high evidence)
NAGLU
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
NAGS
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • N-acetylglutamate synthetase deficiency, MIM#237310
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
NCF2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Chronic granulomatous disease, MIM#233710
Tags
  • immunological
  • treatable
Green Green List (high evidence)
NCF4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III MIM#613960
Tags
  • immunological
  • treatable
Green Green List (high evidence)
NEUROG3
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Diarrhoea 4, malabsorptive, congenital, MIM# 610370
Tags
  • gastrointestinal
  • treatable
Green Green List (high evidence)
NFKBIA
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia and immunodeficiency 2 MIM# 612132
Tags
  • immunological
  • treatable
Green Green List (high evidence)
NHEJ1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM#611291
Tags
  • immunological
  • treatable
Green Green List (high evidence)
NIPAL4
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 6, MIM# 612281
Tags
  • dermatological
  • treatable
Green Green List (high evidence)
NKX2-1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
NKX2-5
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Green
Phenotypes
  • Atrial septal defect 7, with or without AV conduction defects, MIM# 108900
Tags
  • cardiac
  • treatable
Green Green List (high evidence)
NNT
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, MIM# 614736
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
NPC1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Niemann-Pick disease type C1, MIM#257220
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
NPC2
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Niemann-Pick disease type C2, MIM#607625
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
NR0B1
2 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Adrenal hypoplasia, congenital (MIM# 300200)
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
NR3C2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Pseudohypoaldosteronism type I, autosomal dominant , MIM#177735
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
NR5A1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Adrenocortical insufficiency, (MIM#612964)
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
OAS1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042
Tags
  • immunological
  • treatable
Green Green List (high evidence)
OAT
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Gyrate atrophy of choroid and retina with or without ornithinemia MIM#258870
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
ORAI1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Immunodeficiency 9, MIM# 612782
Tags
  • immunological
  • treatable
Green Green List (high evidence)
OTC
2 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Ornithine transcarbamylase deficiency, MIM#311250
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
OTOA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 22, MIM#607039
Tags
  • deafness
  • SV/CNV
Green Green List (high evidence)
OTOF
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 9, MIM#601071
Tags
  • deafness
Green Green List (high evidence)
OTOG
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 18B - MIM#614945
Tags
  • deafness
Green Green List (high evidence)
OTOGL
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 84B, MIM# 614944
Tags
  • deafness
Green Green List (high evidence)
OTULIN
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099
Tags
  • immunological
  • treatable
Green Green List (high evidence)
OTX2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Pituitary hormone deficiency, combined, 6, MIM# 613986
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
OXCT1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Succinyl CoA:3-oxoacid CoA transferase deficiency, MIM# 245050
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
P3H1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Osteogenesis imperfecta, type VIII, (MIM# 610915)
Tags
  • skeletal
  • treatable
Green Green List (high evidence)
PAH
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Phenylketonuria, MIM#261600
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
PALB2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Fanconi anemia, complementation group N, MIM# 610832
Tags
  • haematological
  • treatable
Green Green List (high evidence)
PAX3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Waardenburg syndrome, type 1, OMIM 193500
Tags
  • deafness
Green Green List (high evidence)
PAX8
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, MIM# 218700
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
PC
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Pyruvate carboxylase deficiency, MIM# 266150
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
PCBD1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Hyperphenylalaninemia, BH4-deficient, D, MIM# 264070
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
PCCA
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Propionic acidaemia, MIM#606054
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
PCCB
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Propionicacidaemia, MIM#606054
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
PCDH15
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Usher syndrome, type 1F 602083, Deafness, autosomal recessive 23 609533
Tags
  • deafness
Green Green List (high evidence)
PCSK9
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Green
Phenotypes
  • Hypercholesterolaemia, familial, 3, MIM# 603776
Tags
  • for review
  • metabolic
  • treatable
Green Green List (high evidence)
PDHA1
2 reviews
2 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Pyruvate dehydrogenase E1-alpha deficiency, MIM# 312170
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
PDHB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Pyruvate dehydrogenase E1-beta deficiency, MIM# 614111
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
PDHX
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Lactic acidaemia due to PDX1 deficiency, MIM# 245349
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
PDP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Pyruvate dehydrogenase phosphatase deficiency, MIM# 608782
Tags
  • metabolic
  • treatable
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
  • endocrine
  • treatable
Green Green List (high evidence)
PDZD7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 57, MIM# 618003
  • Usher syndrome, type IIC, GPR98/PDZD7 digenic, MIM# 605472
Tags
  • deafness
Green Green List (high evidence)
PGM1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type It, MIM# 614921
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
PGM3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Immunodeficiency 23, MIM# 615816
Tags
  • immunological
  • treatable
Green Green List (high evidence)
PHEX
1 review
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Hypophosphatemic rickets, X-linked dominant, MIM# 307800
Tags
  • skeletal
  • treatable
Green Green List (high evidence)
PHGDH
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Phosphoglycerate dehydrogenase deficiency, MIM# 601815
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
PHKA2
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Glycogen storage disease, type IXa1 and a2, MIM# 306000
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
PHKB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750
  • Glycogen storage disease IXb, MONDO:0009868
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
PHKG2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Glycogen storage disease IXc, MIM# 613027
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
PIK3CD
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency 14B, autosomal recessive, MIM# 619281
  • Immunodeficiency 14A, autosomal dominant, MIM# 615513
Tags
  • immunological
  • treatable
Green Green List (high evidence)
PIK3R1
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Agammaglobulinemia 7, autosomal recessive, MIM# 615214
  • Immunodeficiency 36, MIM# 616005
Tags
  • immunological
  • treatable
Green Green List (high evidence)
PKLR
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Pyruvate kinase deficiency, MIM#266200
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
PLG
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Plasminogen deficiency, type I, MIM# 217090
Tags
  • haematological
  • treatable
Green Green List (high evidence)
PLPBP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Epilepsy, early-onset, vitamin B6-dependent , MIM#617290
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
PLS3
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Bone mineral density QTL18, osteoporosis - MIM#300910
Tags
  • skeletal
  • treatable
Green Green List (high evidence)
PNP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency due to purine nucleoside phosphorylase deficiency MIM#613179
Tags
  • immunological
  • treatable
Green Green List (high evidence)
PNPO
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
POLE
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • IMAGE-I syndrome, MIM# 618336
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
POMC
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734
Tags
Green Green List (high evidence)
POR
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750
  • Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM# 613571
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
POU1F1
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Pituitary hormone deficiency, combined, 1 MIM# 613038
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
POU3F4
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, X-linked 2, MIM#304400
Tags
  • deafness
Green Green List (high evidence)
PPOX
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Variegate porphyria, childhood-onset, MIM# 620483
Tags
  • haematological
  • treatable
Green Green List (high evidence)
PRDX1
1 review
1 green
Other
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblC type, digenic MIM#277400
Tags
  • for review
Green Green List (high evidence)
PRF1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Haemophagocytic lymphohistiocytosis, familial, 2, MIM#603553
Tags
  • immunological
  • treatable
Green Green List (high evidence)
PRKAR1A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Carney complex, type 1, MIM# 160980
Tags
  • cancer
  • treatable
Green Green List (high evidence)
PRKDC
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Immunodeficiency 26, with or without neurologic abnormalities, MIM# 615966
Tags
  • immunological
  • treatable
Green Green List (high evidence)
PROP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Pituitary hormone deficiency, combined, 2, MIM#262600
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
PSTPIP1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia, MIMM# 601979
  • Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416
Tags
  • immunological
  • treatable
Green Green List (high evidence)
PTCH1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Basal cell nevus syndrome, MIM# 109400
Tags
  • cancer
Green Green List (high evidence)
PTF1A
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Pancreatic and cerebellar agenesis, MIM# 609069
  • Pancreatic agenesis 2, MIM# 615935
Tags
  • gastrointestinal
  • treatable
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
  • immunological
  • treatable
Green Green List (high evidence)
PTPRQ
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 84A, MIM# 613391
  • Deafness, autosomal dominant 73, MIM# 617663
Tags
  • deafness
Green Green List (high evidence)
PTS
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Hyperphenylalaninemia, BH4-deficient, A, MIM#261640
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
PYGL
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Glycogen storage disease VI, MIM# 232700
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
QDPR
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Dihydropteridine reductase deficiency, MIM#261630
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
RAB27A
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Griscelli syndrome, MIM#607624
Tags
  • for review
  • immunological
Green Green List (high evidence)
RAC2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia MIM# 618986
Tags
  • immunological
  • treatable
Green Green List (high evidence)
RAG1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity MIM# 609889
  • Combined cellular and humoral immune defects with granulomas MIM# 233650
  • Omenn syndrome MIM# 603554
  • Severe combined immunodeficiency, B cell-negative MIM# 601457
Tags
  • immunological
  • treatable
Green Green List (high evidence)
RAG2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BEginNGS
  • Expert Review Green
Phenotypes
  • Omenn syndrome MIM# 603554
  • Severe combined immunodeficiency, B cell-negative MIM# 601457
  • Combined cellular and humoral immune defects with granulomas MIM# 233650
Tags
  • immunological
  • treatable
Green Green List (high evidence)
RAPSN
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (MIM#616326)
Tags
  • neurological
  • treatable
Green Green List (high evidence)
RASGRP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency 64 (MIM#618534)
Tags
  • immunological
  • treatable
Green Green List (high evidence)
RB1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Retinoblastoma, MIM# 180200
Tags
  • cancer
  • treatable
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
  • deafness
Green Green List (high evidence)
REST
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • {Wilms tumor 6, susceptibility to}, MIM# 616806
Tags
  • cancer
  • treatable
Green Green List (high evidence)
RET
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Multiple endocrine neoplasia IIB
  • Multiple endocrine neoplasia IIA
Tags
  • cancer
  • treatable
Green Green List (high evidence)
RFX5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Bare lymphocyte syndrome, type II, complementation group C MIM# 209920
  • Bare lymphocyte syndrome, type II, complementation group E MIM# 209920
Tags
  • immunological
  • treatable
Green Green List (high evidence)
RFXANK
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • MHC class II deficiency, complementation group B , MIM#209920
Tags
  • immunological
  • treatable
Green Green List (high evidence)
RFXAP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Bare lymphocyte syndrome, type II, complementation group D MIM# 209920
Tags
  • immunological
  • treatable
Green Green List (high evidence)
RMRP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Cartilage-hair hypoplasia MIM#250250
Tags
  • for review
  • immunological
  • non-coding gene
  • treatable
Green Green List (high evidence)
RNPC3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Pituitary hormone deficiency, combined or isolated, 7, MIM# 618160
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
RPE65
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Leber congenital amaurosis 2 MIM#204100
  • Retinitis pigmentosa 20 MIM#613794
Tags
  • for review
  • ophthalmological
  • treatable
Green Green List (high evidence)
RPL11
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Diamond-Blackfan anaemia, MIM#612562
Tags
  • haematological
  • treatable
Green Green List (high evidence)
RPL15
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Diamond-Blackfan anaemia 12 , MIM# 615550
Tags
  • haematological
  • treatable
Green Green List (high evidence)
RPL35A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Diamond-Blackfan anaemia 5, MIM# 612528
Tags
  • haematological
  • treatable
Green Green List (high evidence)
RPL5
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Diamond-Blackfan anaemia, MIM#612561
Tags
  • haematological
  • treatable
Green Green List (high evidence)
RPS10
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Diamond-Blackfan anaemia 9, MIM# 613308
Tags
  • haematological
  • treatable
Green Green List (high evidence)
RPS17
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Diamond-Blackfan anaemia, MIM#612527
Tags
  • haematological
  • treatable
Green Green List (high evidence)
RPS19
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Diamond-Blackfan anaemia, MIM#105650
Tags
  • haematological
  • treatable
Green Green List (high evidence)
RPS24
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Diamond-Blackfan anaemia, MIM#610629
Tags
  • haematological
  • treatable
Green Green List (high evidence)
RPS26
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Diamond-Blackfan anaemia, MM#613309
Tags
  • haematological
  • treatable
Green Green List (high evidence)
RPS7
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Diamond-Blackfan anaemia 8, MIM# 612563
Tags
  • haematological
  • treatable
Green Green List (high evidence)
RUNX1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399
Tags
  • for review
  • haematological
  • treatable
Green Green List (high evidence)
RYR1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • BabySeq Category B gene
  • BabySeq Category C gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • {Malignant hyperthermia susceptibility 1} MIM#145600
Tags
  • pharmacogenomic
Green Green List (high evidence)
RYR2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 2
  • Ventricular tachycardia, catecholaminergic polymorphic
Tags
  • cardiac
  • treatable
Green Green List (high evidence)
S1PR2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 68, MIM# 610419
Tags
  • deafness
Green Green List (high evidence)
SAMD9
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • MIRAGE syndrome, MIM# 617053
Tags
  • endocrine
  • haematological
  • treatable
Green Green List (high evidence)
SAMD9L
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ataxia-pancytopenia syndrome, MIM# 159550
Tags
  • haematological
  • immunological
  • treatable
Green Green List (high evidence)
SAR1B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Chylomicron retention disease, MIM# 246700
Tags
  • gastrointestinal
  • treatable
Green Green List (high evidence)
SBDS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Shwachman-Diamond syndrome, MIM# 260400
Tags
  • gastrointestinal
  • haematological
  • treatable
Green Green List (high evidence)
SCNN1A
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Pseudohypoaldosteronism, type I, MIM# 264350
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
SCNN1B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BabySeq Category C gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Pseudohypoaldosteronism, type I MIM# 264350
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
SCNN1G
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Pseudohypoaldosteronism, type I, MIM# 264350
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
SERPINF1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Osteogenesis imperfecta, type VI, MIM# 613982
Tags
  • skeletal
  • treatable
Green Green List (high evidence)
SERPINH1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Osteogenesis imperfecta, type X, MIM# 613848
Tags
  • skeletal
  • treatable
Green Green List (high evidence)
SGPL1
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Nephrotic syndrome, type 14 MIM#617575
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
SH2D1A
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Lymphoproliferative syndrome, X-linked, 1, MIM# 308240
Tags
  • immunological
  • treatable
Green Green List (high evidence)
SI
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Sucrase-isomaltase deficiency, congenital, MIM# 222900
Tags
  • gastrointestinal
  • treatable
Green Green List (high evidence)
SLC12A1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Bartter syndrome, type 1, MIM# 601678
Tags
  • renal
  • treatable
Green Green List (high evidence)
SLC18A2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Parkinsonism-dystonia, infantile, 2, MIM# 618049
Tags
  • neurological
  • treatable
Green Green List (high evidence)
SLC18A3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Myasthenic syndrome, congenital, 21, presynaptic, MIM# 617239
Tags
  • neurological
  • treatable
Green Green List (high evidence)
SLC19A2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
SLC19A3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
SLC22A5
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Carnitine deficiency, systemic primary, MIM# 212140, MONDO:0008919
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
SLC25A13
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Citrullinemia, type II, neonatal-onset, MIM# 605814
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
SLC25A15
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, MIM#238970
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
SLC25A19
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), MIM#613710
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
SLC25A20
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Carnitine-acylcarnitine translocase deficiency, MIM#212138
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
SLC25A38
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950
Tags
  • haematological
  • treatable
Green Green List (high evidence)
SLC26A3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Diarrhoea 1, secretory chloride, congenital, MIM# 214700
Tags
  • gastrointestinal
  • treatable
Green Green List (high evidence)
SLC26A4
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 600791
  • Pendred syndrome 274600
Tags
  • deafness
Green Green List (high evidence)
SLC26A7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Congenital hypothyroidism, MONDO:0018612, SLC26A7-related
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
SLC2A1
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • GLUT1 deficiency syndrome 2, childhood onset, 612126
  • {Epilepsy, idiopathic generalized, susceptibility to, 12}, MIM#614847
  • GLUT1 deficiency syndrome 1, infantile onset, severe, 606777
Tags
  • neurological
  • treatable
Green Green List (high evidence)
SLC30A10
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypermanganesemia with dystonia 1, MIM# 613280
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
SLC34A3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hypophosphatemic rickets with hypercalciuria, MIM#241530
Tags
  • skeletal
  • treatable
Green Green List (high evidence)
SLC35A2
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type IIm, MIM #300896
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
SLC37A4
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Glycogen storage disease Ib, MIM# 232220
  • Glycogen storage disease Ic, MIM# 232240
  • Congenital disorder of glycosylation, type IIw, MIM# 619525
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
SLC39A4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Acrodermatitis enteropathica, MIM# 201100
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
SLC39A7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Agammaglobulinaemia 9, autosomal recessive, MIM# 619693
Tags
  • immunological
  • treatable
Green Green List (high evidence)
SLC39A8
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type IIn , MIM#16721
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
SLC46A1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Folate malabsorption, hereditary, MIM# 229050
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
SLC4A1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Distal renal tubular acidosis 4 with haemolytic anaemia MIM# 611590
Tags
  • for review
  • renal
  • treatable
Green Green List (high evidence)
SLC52A2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Brown-Vialetto-Van Laere syndrome 2, MIM# 614707
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
SLC52A3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Brown-Vialetto-Van Laere syndrome 1, MIM# 211530
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
SLC5A1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Glucose/galactose malabsorption, MIM# 606824
Tags
  • gastrointestinal
  • treatable
Green Green List (high evidence)
SLC5A5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Thyroid dyshormonogenesis 1, MIM# 274400
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
SLC5A6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
SLC5A7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143
Tags
  • neurological
  • treatable
Green Green List (high evidence)
SLC7A7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Lysinuric protein intolerance, MIM# 222700
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
SLITRK6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Deafness and myopia MIM#221200
Tags
  • deafness
Green Green List (high evidence)
SLX4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Fanconi anaemia, complementation group P, MIM# 613951
Tags
  • haematological
  • treatable
Green Green List (high evidence)
SMAD2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Loeys-Dietz syndrome 6, MIM# 619656
Tags
  • cardiac
  • treatable
Green Green List (high evidence)
SMAD3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Loeys-Dietz syndrome 3, MIM# 613795
Tags
  • cardiac
  • treatable
Green Green List (high evidence)
SMARCD2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Specific granule deficiency 2 MIM#617475
Tags
  • immunological
  • treatable
Green Green List (high evidence)
SMN1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Spinal muscular atrophy type 1, MIM#253300
Tags
  • clinical trial
  • neurological
  • treatable
Green Green List (high evidence)
SMPD1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Niemann-Pick disease, type A, MIM# 257200
  • Niemann-Pick disease, type B, MIM# 607616
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
SNX10
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Osteopetrosis, autosomal recessive 8 MIM#615085
Tags
  • skeletal
  • treatable
Green Green List (high evidence)
SP110
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hepatic veno-occlusive disease with immunodeficiency MIM#235550
Tags
  • immunological
  • treatable
Green Green List (high evidence)
SPR
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716
Tags
  • neurological
  • treatable
Green Green List (high evidence)
SRP54
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Neutropenia, severe congenital, 8, autosomal dominant, MIM# 618752
Tags
  • immunological
  • treatable
Green Green List (high evidence)
STAR
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Congenital lipoid adrenal hyperplasia, MIM#201710
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
STAT1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive MIM#613796
Tags
  • immunological
  • treatable
Green Green List (high evidence)
STAT3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952
Tags
  • immunological
  • treatable
Green Green List (high evidence)
STIM1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency 10 MIM612783
Tags
  • immunological
  • treatable
Green Green List (high evidence)
STK4
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations MIM#614868
Tags
  • immunological
  • treatable
Green Green List (high evidence)
STX11
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Haemophagocytic lymphohistiocytosis, familial, 4, MIM#603552
Tags
  • immunological
  • treatable
Green Green List (high evidence)
STX16
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Pseudohypoparathyroidism, type IB MIM#603233
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
STXBP2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Hemophagocytic lymphohistiocytosis, familial, 5, MIM# 613101
Tags
  • immunological
  • treatable
Green Green List (high evidence)
SYT2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive MIM#619461
Tags
  • neurological
  • treatable
Green Green List (high evidence)
TANGO2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM# 616878
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
TAT
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Tyrosinemia, type II, MIM#276600
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
TBL1X
1 review
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hypothyroidism, congenital, nongoitrous, 8 MIM#301033
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
TBX19
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Adrenocorticotropic hormone deficiency, MIM#201400
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
TCF3
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Agammaglobulinaemia 8, autosomal dominant, MIM# 616941
  • Agammaglobulinaemia 8B, autosomal recessive, MIM# 619824
Tags
  • immunological
  • treatable
Green Green List (high evidence)
TCIRG1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Osteopetrosis, autosomal recessive 1, MIM# 259700
Tags
  • skeletal
  • treatable
Green Green List (high evidence)
TCN2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Transcobalamin II deficiency MIM# 275350
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
TECTA
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 21 603629
  • Deafness, autosomal dominant 8/12 601543
Tags
  • deafness
Green Green List (high evidence)
TF
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Atransferrinemia MIM#209300
Tags
  • haematological
  • treatable
Green Green List (high evidence)
TG
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Thyroid dyshormonogenesis 3, MIM# 274700
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
TGFB2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Loeys-Dietz syndrome 4, MIM# 614816
Tags
  • cardiac
  • treatable
Green Green List (high evidence)
TGFB3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Loeys-Dietz syndrome 5 , MIM#615582
Tags
  • cardiac
  • treatable
Green Green List (high evidence)
TGFBR1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Loeys-Dietz syndrome 1, MIM# 609192
Tags
  • cardiac
  • treatable
Green Green List (high evidence)
TGFBR2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Loeys-Dietz syndrome 2, MIM# 610168
Tags
  • cardiac
  • treatable
Green Green List (high evidence)
TH
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Tyrosine hydroxylase deficiency, MIM#605407
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
THRA
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hypothyroidism, congenital, nongoitrous, 6, MIM# 614450
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
TK2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
TMC1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 7 MIM#600974
Tags
  • deafness
Green Green List (high evidence)
TMEM38B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Osteogenesis imperfecta, type XIV , MIM#615066
Tags
  • skeletal
  • treatable
Green Green List (high evidence)
TMIE
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 6 MIM#600971
Tags
  • deafness
Green Green List (high evidence)
TMPRSS3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • deafness, autosomal recessive MIM#601072
Tags
  • deafness
Green Green List (high evidence)
TNFRSF11A
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Osteopetrosis, autosomal recessive 7 - MIM# 612301
Tags
  • skeletal
  • treatable
Green Green List (high evidence)
TP53
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Li-Fraumeni syndrome MIM#151623
Tags
  • cancer
  • treatable
Green Green List (high evidence)
TPK1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) MIM#614458
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
TPO
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Thyroid dyshormonogenesis 2A MIM#274500
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
TPP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 2 MIM#204500 (Batten disease)
Tags
  • for review
  • metabolic
  • treatable
Green Green List (high evidence)
TPRN
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 79, MIM# 613307
Tags
  • deafness
Green Green List (high evidence)
TRHR
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Hypothyroidism, congenital, nongoitrous, 7, MIM# 618573
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
TRIM28
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Wilms tumour, MONDO:0006058, TRIM28-related
Tags
  • cancer
  • treatable
Green Green List (high evidence)
TRIOBP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 28, MIM#609823
Tags
  • deafness
Green Green List (high evidence)
TRMU
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Liver failure, transient infantile MIM# 613070
Tags
  • liver
  • treatable
Green Green List (high evidence)
TRPM6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hypomagnesemia 1, intestinal MIM#602014
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
TSHB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hypothyroidism, congenital, nongoitrous 4, MIM#275100
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
TSHR
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hypothyroidism, congenital, nongoitrous, 1 - MIM#275200
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
TTPA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Ataxia with isolated vitamin E deficiency MIM#277460
Tags
  • neurological
  • treatable
Green Green List (high evidence)
TUBB1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Congenital hypothyroidism, MONDO:0018612, TUBB1-related
  • Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM # 613112
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
UBE2T
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Fanconi anaemia, complementation group T, MIM# 616435
Tags
  • haematological
  • treatable
Green Green List (high evidence)
UGT1A1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Crigler-Najjar syndrome, type I, MIM# 218800
Tags
  • liver
  • treatable
Green Green List (high evidence)
UMPS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Orotic aciduria MIM#258900
Tags
  • metabolic
  • treatable
Green Green List (high evidence)
UNC13D
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Haemophagocytic lymphohistiocytosis, familial, 3, MIM#608898
Tags
  • immunological
  • treatable
Green Green List (high evidence)
UROS
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Porphyria, congenital erythropoietic MIM#263700
Tags
  • haematological
  • treatable
Green Green List (high evidence)
USH1C
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Usher syndrome type 1 MIM#276904
Tags
  • deafness
Green Green List (high evidence)
USH1G
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Usher syndrome type 1 MIM#606943
Tags
  • deafness
Green Green List (high evidence)
USH2A
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Usher Syndrome Type II MIM#276901
Tags
  • deafness
Green Green List (high evidence)
VAMP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Myasthenic syndrome, congenital, 25, MIM# 618323
Tags
  • neurological
  • treatable
Green Green List (high evidence)
VDR
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Rickets, vitamin D-resistant, type IIA MIM#277440
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
VHL
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • von Hippel-Lindau syndrome MIM#193300
Tags
  • cancer
  • treatable
Green Green List (high evidence)
VKORC1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Vitamin K-dependent clotting factors, combined deficiency of, 2 MIM#607473
Tags
  • haematological
  • treatable
Green Green List (high evidence)
VPS45
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Neutropenia, severe congenital, 5, autosomal recessive, MIM#615285
Tags
  • immunological
  • treatable
Green Green List (high evidence)
WAS
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Neutropenia, severe congenital, X-linked , MIM#300299
  • Thrombocytopaenia, X-linked, MIM# 313900
  • Wiskott-Aldrich syndrome, MIM# 301000
Tags
  • haematological
  • treatable
Green Green List (high evidence)
WDR1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Periodic fever, immunodeficiency, and thrombocytopenia syndrome MIM#150550
Tags
  • haematological
  • immunological
  • treatable
Green Green List (high evidence)
WDR72
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Amelogenesis imperfecta, type IIA3, MIM# 613211
  • Distal RTA MONDO:0015827
Tags
  • renal
  • treatable
Green Green List (high evidence)
WHRN
2 reviews
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
  • deafness
Green Green List (high evidence)
WIPF1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Wiskott-Aldrich syndrome 2 MIM#614493
Tags
  • haematological
  • immunological
  • treatable
Green Green List (high evidence)
WNK1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Pseudohypoaldosteronism 2C (PHA2C), MIM#614492
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
WNK4
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Pseudohypoaldosteronism, type IIB MIM#614491
Tags
  • endocrine
  • treatable
Green Green List (high evidence)
WT1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • BabySeq Category B gene
  • Expert Review Green
Phenotypes
  • Wilms tumor, type 1, MIM#194070
Tags
  • cancer
  • treatable
Green Green List (high evidence)
XIAP
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BeginNGS
  • Expert Review Green
Phenotypes
  • Lymphoproliferative syndrome, X-linked, 2, MIM# 300635
Tags
  • immunological
  • treatable
Green Green List (high evidence)
XPA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Xeroderma pigmentosum, group A MIM#278700
Tags
  • clinical trial
  • treatable
Green Green List (high evidence)
XPC
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Xeroderma pigmentosum, group C MIM#278720
Tags
  • clinical trial
  • treatable
Green Green List (high evidence)
ZAP70
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Immunodeficiency MIM#176947
Tags
  • immunological
  • treatable
Amber Amber List (moderate evidence)
ADAR
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Amber
Phenotypes
  • Aicardi-Goutieres syndrome 6, MIM# 615010
Tags
  • clinical trial
  • for review
  • treatable
Amber Amber List (moderate evidence)
AGPAT2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Lipodystrophy, congenital generalized, type 1, MIM# 608594
Tags
  • endocrine
  • for review
  • treatable
Amber Amber List (moderate evidence)
AMT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Amber
Phenotypes
  • Glycine encephalopathy MIM#605899
Tags
  • metabolic
  • treatable
Amber Amber List (moderate evidence)
AP1B1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Keratitis-ichthyosis-deafness syndrome, autosomal recessive MIM#242150
Tags
Amber Amber List (moderate evidence)
AP3D1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Hermansky-Pudlak syndrome 10, MIM# 617050
Tags
  • haematological
  • treatable
Amber Amber List (moderate evidence)
CACNA1C
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • BeginNGS
  • Expert Review Amber
Phenotypes
  • Timothy syndrome, MIM# 601005
  • Brugada syndrome
  • Long QT syndrome 8, MIM# 618447
Tags
Amber Amber List (moderate evidence)
CALM1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Amber
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 4, MIM# 614916
Tags
  • cardiac
  • treatable
Amber Amber List (moderate evidence)
CALM2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Amber
Phenotypes
  • Catecholaminergic polymorphic ventricular tachycardia MONDO:0017990
Tags
  • cardiac
  • treatable
Amber Amber List (moderate evidence)
CASQ2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Amber
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938
Tags
  • cardiac
  • treatable
Amber Amber List (moderate evidence)
CLN3
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Amber
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 3, MIM# 204200
Tags
  • clinical trial
Amber Amber List (moderate evidence)
CLN5
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Amber
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 5, MIM# 256731
  • MONDO:0009745
Tags
  • clinical trial
Amber Amber List (moderate evidence)
CLN6
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Amber
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 6, MIM# 601780
Tags
  • clinical trial
Amber Amber List (moderate evidence)
COL3A1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Amber
Phenotypes
  • Ehlers-Danlos syndrome, vascular type, MIM# 130050
Tags
  • cardiac
Amber Amber List (moderate evidence)
COQ7
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Amber
Phenotypes
  • Coenzyme Q10 deficiency, primary, 8, MIM# 616733
Tags
  • for review
Amber Amber List (moderate evidence)
CP
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Aceruloplasminaemia, MIM#604290
Tags
  • metabolic
  • treatable
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
  • Myopathy, myofibrillar
  • Cardiomyopathy, dilated
Tags
Amber Amber List (moderate evidence)
DMD
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • BabySeq Category B gene
  • BeginNGS
  • Expert Review Amber
Phenotypes
  • Duchenne muscular dystrophy MIM#310200
Tags
  • neurological
Amber Amber List (moderate evidence)
DSC2
1 review
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 11, MIM# 610476
  • Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, MIM# 610476
Tags
  • cardiac
  • treatable
Amber Amber List (moderate evidence)
DSG2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 10, MIM# 610193
Tags
  • cardiac
  • treatable
Amber Amber List (moderate evidence)
DSP
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BabySeq Category B gene
  • BeginNGS
  • Expert Review Amber
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 8, MIM# 607450
Tags
  • cardiac
  • treatable
Amber Amber List (moderate evidence)
ERCC6L2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Bone marrow failure syndrome 2, MIM# 615715
Tags
  • haematological
  • treatable
Amber Amber List (moderate evidence)
F8
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Amber
Phenotypes
  • Haemophilia A, MIM#306700
Tags
  • haematological
  • technically challenging
  • treatable
Amber Amber List (moderate evidence)
GFAP
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Amber
Phenotypes
  • Alexander disease, MIM#203450
Tags
  • clinical trial
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)
GLDC
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Amber
Phenotypes
  • Glycine encephalopathy, MIM# 605899
Tags
  • metabolic
  • treatable
Amber Amber List (moderate evidence)
GNE
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Amber
Phenotypes
  • Nonaka myopathy, MIM# 605820
Tags
  • for review
  • neurological
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)
HBA1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Amber
Phenotypes
  • Thalassaemia alpha, MIM#604131
Tags
  • haematological
  • technically challenging
  • treatable
Amber Amber List (moderate evidence)
HBA2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Amber
Phenotypes
  • Thalassemia, alpha, MIM#604131
Tags
  • haematological
  • technically challenging
  • treatable
Amber Amber List (moderate evidence)
HGD
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Amber
Phenotypes
  • Alkaptonuria MIM#203500
Tags
  • metabolic
  • treatable
Amber Amber List (moderate evidence)
HMGCS2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • HMG-CoA synthase-2 deficiency MIM#605911
Tags
  • for review
  • metabolic
  • treatable
Amber Amber List (moderate evidence)
HNF1A
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BeginNGS
  • Expert Review Amber
Phenotypes
  • MODY, type III , MIM#600496
Tags
  • endocrine
  • treatable
Amber Amber List (moderate evidence)
HNF4A
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • BeginNGS
  • Expert Review Amber
Phenotypes
  • Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, MIM# 616026
  • Hypoglycaemia, hyperinsulinaemic, MIM#125850
  • MODY, type I, OMIM # 125850
Tags
  • endocrine
  • for review
Amber Amber List (moderate evidence)
IARS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093
Tags
  • metabolic
  • treatable
Amber Amber List (moderate evidence)
IFNGR1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Immunodeficiency 27A, mycobacteriosis, AR, MIM# 209950
  • Immunodeficiency 27B, mycobacteriosis, AD, MIM# 615978
Tags
  • immunological
  • treatable
Amber Amber List (moderate evidence)
IFNGR2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Immunodeficiency 28, mycobacteriosis, MIM# 614889
Tags
  • immunological
  • treatable
Amber Amber List (moderate evidence)
IKBKG
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Amber
Phenotypes
  • Immunodeficiency 33 (300636)
Tags
  • for review
  • immunological
  • technically challenging
  • treatable
Amber Amber List (moderate evidence)
JUP
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 12 MIM# 611528
  • Naxos disease MIM# 601214
Tags
  • cardiac
  • treatable
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
  • Long QT syndrome-5
  • Jervell and Lange-Nielsen syndrome
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)
KRIT1
0 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)
LAMP2
3 reviews
2 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • BabySeq Category A gene
  • Expert Review Amber
Phenotypes
  • Danon disease, MIM# 300257
Tags
  • cardiac
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
  • Charcot-Marie-Tooth disease
  • Emery-Dreifuss muscular dystrophy 2
  • Dilated cardiomyopathy
Tags
Amber Amber List (moderate evidence)
LOX
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Amber
Phenotypes
  • Aortic aneurysm, familial thoracic 10, MIM#617168
Tags
  • cardiac
  • treatable
Amber Amber List (moderate evidence)
MCFD2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Amber
Phenotypes
  • Factor V and factor VIII, combined deficiency of, MIM# 613625
Tags
  • haematological
  • treatable
Amber Amber List (moderate evidence)
MEN1
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Amber
Phenotypes
  • Multiple endocrine neoplasia 1, MIM#131100
Tags
  • cancer
  • treatable
Amber Amber List (moderate evidence)
MYH11
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Aortic aneurysm, familial thoracic 4, MIM#160745
Tags
  • cardiac
  • treatable
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)
NAXD
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321
Tags
  • metabolic
  • treatable
Amber Amber List (moderate evidence)
NCF1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Amber
Phenotypes
  • Chronic granulomatous disease, MIM#233700
Tags
  • immunological
  • technically challenging
  • treatable
Amber Amber List (moderate evidence)
NLRP3
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Familial cold inflammatory syndrome 1, MIM#120100 Muckle-Wells syndrome, MIM#191900 CINCA syndrome, MIM#607115 Deafness, autosomal dominant 34, with or without inflammation, MIM#617772 Keratoendothelitis fugax hereditaria, MIM#148200
Tags
  • immunological
  • treatable
Amber Amber List (moderate evidence)
PKD1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Amber
Phenotypes
  • Polycystic kidney disease 1, MIM# 173900
Tags
  • for review
  • renal
  • treatable
Amber Amber List (moderate evidence)
PKD2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Amber
Phenotypes
  • Polycystic kidney disease 2, MIM# 613095
Tags
  • for review
  • renal
  • treatable
Amber Amber List (moderate evidence)
PKP2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 9, MIM# 609040
Tags
  • cardiac
  • for review
  • treatable
Amber Amber List (moderate evidence)
PMS2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Amber
Phenotypes
  • Mismatch repair cancer syndrome 4, MIM# 619101
Tags
  • cancer
  • technically challenging
  • treatable
Amber Amber List (moderate evidence)
PRKG1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Amber
Phenotypes
  • Aortic aneurysm, familial thoracic 8, MIM#615436
Tags
  • cardiac
  • treatable
Amber Amber List (moderate evidence)
PSPH
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Amber
Phenotypes
  • Phosphoserine phosphatase deficiency, MIM# 614023
Tags
  • for review
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)
RNASEH2A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Amber
Phenotypes
  • Aicardi-Goutieres syndrome 4, MIM# 610333
Tags
Amber Amber List (moderate evidence)
RNASEH2B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Amber
Phenotypes
  • Aicardi-Goutieres syndrome 2, MIM# 610181
Tags
  • for review
  • neurological
Amber Amber List (moderate evidence)
RNASEH2C
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Amber
Phenotypes
  • Aicardi-Goutieres syndrome 3, MIM# 610329
Tags
  • for review
  • neurological
Amber Amber List (moderate evidence)
SAMHD1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Amber
Phenotypes
  • Aicardi-Goutieres syndrome 5, MIM# 612952
Tags
  • for review
  • neurological
  • treatable
Amber Amber List (moderate evidence)
SCN5A
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • BeginNGS
  • Expert Review Amber
Phenotypes
  • Long QT syndrome 3 (MIM#603830)
  • Brugada syndrome 1, MIM# 601144
Tags
  • cardiac
  • treatable
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)
SGSH
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Amber
Phenotypes
  • Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900
Tags
  • clinical trial
Amber Amber List (moderate evidence)
SLC16A1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • BeginNGS
  • Expert Review Amber
Phenotypes
  • Hyperinsulinemic hypoglycemia, familial, 7, MIM# 610021
  • Monocarboxylate transporter 1 deficiency
Tags
  • for review
  • metabolic
Amber Amber List (moderate evidence)
SLC16A2
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Amber
Phenotypes
  • Allan-Herndon-Dudley syndrome, MIM# 300523
Tags
  • clinical trial
Amber Amber List (moderate evidence)
SLC25A1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Amber
Phenotypes
  • Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072
  • Myasthenic syndrome, congenital, 23, presynaptic, MIM#618197, MONDO:0032596
Tags
  • for review
  • neurological
Amber Amber List (moderate evidence)
SLC35C1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Amber
Phenotypes
  • Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953
Tags
  • for review
  • metabolic
Amber Amber List (moderate evidence)
SLC39A14
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hypermanganesemia with dystonia 2, MIM# 617013
Tags
  • for review
  • metabolic
  • treatable
Amber Amber List (moderate evidence)
SLC6A5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Amber
Phenotypes
  • Hyperekplexia 3, MIM#614618
Tags
  • for review
Amber Amber List (moderate evidence)
SLC6A8
2 reviews
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Amber
Phenotypes
  • Cerebral creatine deficiency syndrome 1, MIM# 300352
Tags
  • for review
  • metabolic
Amber Amber List (moderate evidence)
SLC9A3
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Diarrhoea 8, secretory sodium, congenital, MiM# 616868
Tags
  • for review
Amber Amber List (moderate evidence)
SMARCAL1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Amber
Phenotypes
  • Schimke immune-osseous dysplasia MIM# 242900
Tags
  • for review
  • immunological
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)
SOX3
2 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Panhypopituitarism, X-linked MIM#312000
Tags
  • endocrine
  • for review
  • treatable
Amber Amber List (moderate evidence)
SP7
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Amber
Phenotypes
  • Osteogenesis imperfecta, type XII, MIM# 613849
Tags
  • skeletal
Amber Amber List (moderate evidence)
SPTLC1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Amber
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type IA, MIM# 162400
Tags
Amber Amber List (moderate evidence)
STK11
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Amber
Phenotypes
  • Peutz-Jeghers syndrome, MIM# 175200
Tags
  • cancer
  • for review
  • treatable
Amber Amber List (moderate evidence)
STRC
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Amber
Phenotypes
  • Deafness, autosomal recessive 16, MIM# 603720
Tags
  • deafness
  • technically challenging
Amber Amber List (moderate evidence)
SUOX
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Amber
Phenotypes
  • Sulfite oxidase deficiency, MIM# 272300
Tags
  • for review
  • metabolic
Amber Amber List (moderate evidence)
TECRL
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Amber
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 3, MIM# 614021
Tags
  • cardiac
  • treatable
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
  • non-coding gene
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)
TMEM165
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Congenital disorder of glycosylation, type IIk MIM#614727
Tags
  • metabolic
Amber Amber List (moderate evidence)
TNFRSF11B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Amber
Phenotypes
  • Paget disease of bone 5, juvenile-onset MIM#239000
Tags
  • for review
  • skeletal
Amber Amber List (moderate evidence)
TNFSF11
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Amber
Phenotypes
  • Osteopetrosis, autosomal recessive 2 MIM#259710
Tags
  • for review
  • skeletal
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)
TOP2B
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • B-cell immunodeficiency, distal limb anomalies, and urogenital malformations MIM#609296
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)
TRDN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Amber
Phenotypes
  • Cardiac arrhythmia syndrome, with or without skeletal muscle weakness, MIM# 615441
Tags
  • cardiac
  • treatable
Amber Amber List (moderate evidence)
TREX1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Amber
Phenotypes
  • Aicardi-Goutieres syndrome 1 MIM#225750
Tags
  • for review
  • neurological
  • treatable
Amber Amber List (moderate evidence)
TRNT1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay MIM#616084
Tags
  • immunological
  • treatable
Amber Amber List (moderate evidence)
TRPM4
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Amber
Phenotypes
  • Progressive familial heart block, type IB 604559
Tags
  • cardiac
  • for review
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)
UNG
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Immunodeficiency with hyper IgM, type 5 MIM#608106
Tags
  • immunological
  • treatable
Amber Amber List (moderate evidence)
USP18
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Pseudo-TORCH syndrome 2 MIM#617397
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)
ZBTB24
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 2 MIM#614069
Tags
  • immunological
  • treatable
Red Red List (low evidence)
AARS
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Epileptic encephalopathy, early infantile, 29, MIM# 616339
  • Charcot-Marie-Tooth disease, axonal, type 2N, MIM# 613287
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)
ABCA12
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 4A (MIM#601277)
  • Ichthyosis, congenital, autosomal recessive 4B (harlequin) (MIM#242500)
Tags
Red Red List (low evidence)
ABCA3
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 3, MIM# 610921
Tags
Red Red List (low evidence)
ABCA4
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Cone-rod dystrophy 3, 604116
  • Fundus flavimaculatus, 248200
  • Retinal dystrophy, early-onset severe, 248200
  • Retinitis pigmentosa 19, 601718
  • Stargardt disease 1, 248200
Tags
Red Red List (low evidence)
ABCB11
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Cholestasis, progressive familial intrahepatic 2, MIM# 601847
  • Cholestasis, benign recurrent intrahepatic, 2, MIM# 605479
Tags
Red Red List (low evidence)
ABCB4
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Cholestasis, progressive familial intrahepatic 3 MIM#602347
  • disorder of bile acid metabolism
  • Cholestasis, intrahepatic, of pregnancy, 3 (MIM#614972)
  • Gallbladder disease 1 (MIM#600803)
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)
ABCC2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Dubin-Johnson syndrome, MIM# 237500
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)
ABHD12
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674
Tags
Red Red List (low evidence)
ACAD8
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Isobutyryl-CoA dehydrogenase deficiency MIM#611283
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
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • 2-methylbutyrylglycinuria MIM#610006
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)
ACE
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Renal tubular dysgenesis, MIM# 267430
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)
ACOX1
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470
  • Mitchell syndrome, MIM# 618960
Tags
Red Red List (low evidence)
ACSF3
0 reviews
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
  • Baraitser-Winter syndrome
  • Neutrophil dysfunction and recurrent infection
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
  • Atrial septal defect
  • Cardiomyopathy, familial hypertrophic
  • Left ventricular noncompaction
  • Cardiomyopathy, dilated
Tags
Red Red List (low evidence)
ACTG1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Baraitser-Winter syndrome 2MIM#614583
  • Deafness, autosomal dominant 20/26 MIM#604717
Tags
Red Red List (low evidence)
ACTG2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Visceral myopathy, MIM#155310
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431
Tags
Red Red List (low evidence)
ACTN1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Bleeding disorder, platelet-type, 15, MIM# 615193
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)
ACTN4
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Glomerulosclerosis, focal segmental, 1, MIM#603278
Tags
Red Red List (low evidence)
ACVR1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Fibrodysplasia ossificans progressiva, MIM# 135100
Tags
  • clinical trial
  • for review
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)
ADAMTSL2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Geleophysic dysplasia 1, MIM# 231050
Tags
Red Red List (low evidence)
ADGRG1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Polymicrogyria, bilateral frontoparietal, MIM#606854
Tags
Red Red List (low evidence)
ADK
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Hypermethioninemia due to adenosine kinase deficiency, MIM# 614300
Tags
Red Red List (low evidence)
AGA
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Aspartylglucosaminuria, MIM# 208400 MONDO:0008830
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)
AHI1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Joubert syndrome 3, MIM# 608629
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)
AIFM1
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Combined oxidative phosphorylation deficiency 6, 300816
  • Cowchock syndrome, 310490
  • Deafness, X-linked 5, 300614
  • Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232
Tags
Red Red List (low evidence)
AIP
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Red
Phenotypes
  • Pituitary adenoma predisposition, MIM# 102200
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)
ALAS2
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Anaemia, sideroblastic, 1, MIM# 300751
  • Protoporphyria, erythropoietic, X-linked, MIM# 300752
Tags
Red Red List (low evidence)
ALB
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Analbuminemia, MIM# 616000
Tags
Red Red List (low evidence)
ALDH18A1
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Cutis laxa, autosomal recessive, type IIIA MIM#219150
  • Spastic paraplegia 9A, autosomal dominant MIM#601162
  • Spastic paraplegia 9B, autosomal recessive MIM#616586
  • Cutis laxa, autosomal dominant 3 MIM#616603
  • disorders of ornithine or proline metabolism
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)
ALDH3A2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Sjogren-Larsson syndrome MIM#270200
Tags
Red Red List (low evidence)
ALDH5A1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Succinic semialdehyde dehydrogenase deficiency, MIM# 271980
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)
ALG1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Congenital disorder of glycosylation, type Ik 608540
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)
ALG12
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Congenital disorder of glycosylation, type Ig, MIM# 607143
Tags
Red Red List (low evidence)
ALG14
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Myasthenic syndrome, congenital, 15, without tubular aggregates 616227
  • Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031
  • Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036
  • Disorder of N-glycosylation
Tags
  • for review
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)
ALG3
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Congenital disorder of glycosylation, type Id, MIM# 601110
Tags
Red Red List (low evidence)
ALG6
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Congenital disorder of glycosylation, type Ic (MIM#603147)
Tags
Red Red List (low evidence)
ALG8
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Congenital disorder of glycosylation, type Ih, MIM# 608104
Tags
Red Red List (low evidence)
ALG9
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210
  • Congenital disorder of glycosylation, type Il, MIM#608776
Tags
Red Red List (low evidence)
ALK
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • {Neuroblastoma, susceptibility to, 3} MIM#613014
Tags
  • cancer
Red Red List (low evidence)
ALMS1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Alstrom syndrome, MIM# 203800
Tags
Red Red List (low evidence)
ALOX12B
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 2, MIM# 242100
Tags
Red Red List (low evidence)
ALOXE3
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 3, MIM#606545
Tags
Red Red List (low evidence)
ALS2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Infantile onset ascending spastic paralysis (MIM#607225)
  • Juvenile amyotrophic lateral sclerosis 2 (MIM#205100)
  • Juvenile primary lateral sclerosis (MIM#606353)
Tags
Red Red List (low evidence)
ALX4
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Frontonasal dysplasia 2 MIM# 613451
  • Parietal foramina 2 MIM# 609597
  • {Craniosynostosis 5, susceptibility to} MIM#615529
Tags
Red Red List (low evidence)
AMELX
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Amelogenesis imperfecta, type 1E, MIM# 301200
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)
ANK1
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Spherocytosis, type 1 MIM#182900
Tags
Red Red List (low evidence)
ANK2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Red
Phenotypes
  • Complex neurodevelopmental disorder, MONDO:0100038
Tags
Red Red List (low evidence)
ANKH
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Craniometaphyseal dysplasia MIM#123000
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)
ANKRD26
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Thrombocytopaenia 2, MIM# 188000
Tags
Red Red List (low evidence)
ANO10
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 10, MIM#613728
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
  • Muscular dystrophy, limb-girdle, type 2L
  • Gnathodiaphyseal dysplasia
Tags
Red Red List (low evidence)
ANTXR2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Hyaline fibromatosis syndrome, MIM# 228600
  • MONDO:0009229
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)
AP4B1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Spastic paraplegia 47, autosomal recessive, MIM# 614066
Tags
Red Red List (low evidence)
AP4E1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Spastic paraplegia 51, autosomal recessive, MIM# 613744
Tags
Red Red List (low evidence)
AP4M1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Spastic paraplegia 50, autosomal recessive, MIM# 612936
Tags
Red Red List (low evidence)
APC
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Adenomatous polyposis coli, MIM# 175100
Tags
  • cancer
  • treatable
Red Red List (low evidence)
APOA5
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Hyperchylomicronaemia, late-onset, MIM# 144650
Tags
  • treatable
Red Red List (low evidence)
APOB
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Hypercholesterolaemia, familial, 2, MIM# 144010
Tags
  • for review
  • treatable
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)
APRT
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Adenine phosphoribosyltransferase deficiency, MIM# 614723
Tags
  • treatable
Red Red List (low evidence)
APTX
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920
Tags
Red Red List (low evidence)
AR
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hypospadias 1, X-linked MIM#30063
  • Androgen insensitivity MIM#300068
  • Androgen insensitivity, partial, with or without breast cancer MIM#312300
Tags
Red Red List (low evidence)
ARFGEF2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Periventricular heterotopia with microcephaly (MIM#608097)
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)
ARID1B
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Coffin-Siris syndrome 1 MIM#135900
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)
ARMC4
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Ciliary dyskinesia, primary, 23, MIM# 615451
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)
ARX
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Lissencephaly, X-linked 2, MIM# 300215
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)
ASPA
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Canavan disease MIM#271900
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)
ATM
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Ataxia-telangiectasia, MIM# 208900
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)
ATP1A2
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Alternating hemiplegia of childhood 1, MIM#104290
  • Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602
  • Developmental and epileptic encephalopathy 98, MIM# 619605
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)
ATP2A1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Brody myopathy, OMIM # 601003
Tags
Red Red List (low evidence)
ATP2B2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Deafness, autosomal dominant 82, MIM# 619804
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)
ATP6V0A2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Cutis laxa, autosomal recessive, type IIA, MIM# 219200
  • Wrinkly skin syndrome, MIM#278250
Tags
Red Red List (low evidence)
ATP8B1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Cholestasis, progressive familial intrahepatic 1, MIM# 211600
  • Cholestasis, benign recurrent intrahepatic, MIM# 243300
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)
ATRX
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • ATR-X-related syndrome MONDO:0016980
Tags
Red Red List (low evidence)
AUH
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • 3-methylglutaconic aciduria, type I , MIM#250950
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)
B3GLCT
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Peters-plus syndrome, MIM#261540
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)
BAAT
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Bile acid conjugation defect 1, MIM# 619232
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)
BBS1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Bardet-Biedl syndrome 1, MIM# 209900
Tags
Red Red List (low evidence)
BBS10
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Bardet-Biedl syndrome 10, MIM# 615987
Tags
Red Red List (low evidence)
BBS12
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Bardet-Biedl syndrome 12, MIM# 615989
Tags
Red Red List (low evidence)
BBS2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Bardet-Biedl syndrome 2, MIM# 615981
Tags
Red Red List (low evidence)
BBS4
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Bardet-Biedl syndrome 4, MIM#615982
Tags
Red Red List (low evidence)
BBS5
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Bardet-Biedl syndrome 5, MIM#615983
Tags
Red Red List (low evidence)
BBS7
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Bardet-Biedl syndrome 7, MIM# 615984
Tags
Red Red List (low evidence)
BBS9
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Bardet-Biedl syndrome 9, MIM#615986
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)
BCS1L
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Bjornstad syndrome, MIM# 262000
  • Leigh syndrome, MIM# 256000
  • BCS1L-related mitochondrial 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)
BICD2
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290
  • MONDO:0014121
  • Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291
  • Neurodevelopmental disorder (MONDO#0700092), BICD2-related
Tags
Red Red List (low evidence)
BIN1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Centronuclear myopathy 2, MIM# 255200
Tags
Red Red List (low evidence)
BLM
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Bloom syndrome, MIM# 210900
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)
BMPR1A
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Polyposis, juvenile intestinal, MIM# 174900
Tags
Red Red List (low evidence)
BMPR2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Red
Phenotypes
  • Pulmonary hypertension, familial primary, 1, with or without HHT, MIM# 178600
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)
BRAF
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Cardiofaciocutaneous syndrome, MIM# 115150
  • Noonan syndrome 7, MIM# 613706
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)
C8A
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Red
Phenotypes
  • C8 deficiency, type I, MIM# 613790
Tags
Red Red List (low evidence)
CACNA1A
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Episodic ataxia, type 2, MIM# 108500
Tags
Red Red List (low evidence)
CACNA1D
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474
  • Sinoatrial node dysfunction and deafness
Tags
Red Red List (low evidence)
CACNA1F
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Aland Island eye disease MIM#300600
  • Cone-rod dystrophy, X-linked, 3 MIM#300476
  • Night blindness, congenital stationary (incomplete), 2A, X-linked MIM#300071
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)
CAPN3
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 1, MIM# 253600
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)
CASK
1 review
1 red
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • FG syndrome 4 MIM#300422
  • Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749
  • Mental retardation, with or without nystagmus MIM#300422
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)
CAV3
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Myopathy, distal, Tateyama type MIM#614321
  • Rippling muscle disease 2 MIM#606072
  • Creatine phosphokinase, elevated serum MIM#123320
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)
CBL
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563
Tags
Red Red List (low evidence)
CC2D2A
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Joubert syndrome 9, MIM# 612285
  • Meckel syndrome 6, MIM# 612284
  • COACH syndrome 2, MIM# 619111
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)
CCDC39
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Ciliary dyskinesia, primary, 14, MIM# 613807
Tags
Red Red List (low evidence)
CCDC40
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Ciliary dyskinesia, primary, 15, MIM#613808
Tags
Red Red List (low evidence)
CCDC50
0 reviews
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)
CD164
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Deafness, autosomal dominant 66 MIM#616969
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)
CD81
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Immunodeficiency, common variable, 6, MIM# 613496
Tags
  • immunological
  • treatable
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)
CDAN1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Dyserythropoietic anaemia, congenital, type Ia, MIM#224120
Tags
  • haematological
  • treatable
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)
CDK5RAP2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Microcephaly 3, primary, autosomal recessive, MIM# 604804
  • MONDO:0011488
Tags
Red Red List (low evidence)
CDKL5
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Epileptic encephalopathy, early infantile, 2, MIM 300672
Tags
Red Red List (low evidence)
CDKN2A
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Red
Phenotypes
  • {Melanoma, cutaneous malignant, 2}, MIM# 155601
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)
CDSN
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Peeling skin syndrome 1, MIM#270300
Tags
Red Red List (low evidence)
CDT1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Meier-Gorlin syndrome 4, MIM# 613804
  • MONDO:0013431
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)
CEP152
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Microcephaly 9, primary, autosomal recessive, MIM# 614852
  • Seckel syndrome 5, MIM# 613823
Tags
Red Red List (low evidence)
CEP250
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Cone-rod dystrophy and hearing loss 2 MIM#618358
Tags
Red Red List (low evidence)
CEP290
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Bardet-Biedl syndrome 14, MIM# 615991
  • Joubert syndrome 5 610188
  • Leber congenital amaurosis 10, MIM# 611755
  • Meckel syndrome 4, MIM# 611134
  • Senior-Loken syndrome 6, MIM# 610189
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)
CEP78
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Cone-rod dystrophy and hearing loss MIM#617236
Tags
Red Red List (low evidence)
CEP83
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Nephronophthisis 18, MIM# 615862
  • ID
  • MONDO:0014374
  • Retinal dystrophy
Tags
Red Red List (low evidence)
CFB
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Haemolytic uraemic syndrome
  • Haemolytic uremic syndrome, atypical, susceptibility to, 4}, MIM# 612924
Tags
Red Red List (low evidence)
CFC1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Heterotaxy, visceral, 2, autosomal MIM#605376
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)
CFL2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Nemaline myopathy 7, autosomal recessive, MIM# 610687
Tags
Red Red List (low evidence)
CHD2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Epileptic encephalopathy, childhood-onset (MIM # 615369)
Tags
Red Red List (low evidence)
CHD7
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • CHARGE syndrome, MIM# 214800
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)
CHKB
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Muscular dystrophy, congenital, megaconial type, MIM# 602541
Tags
Red Red List (low evidence)
CHM
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Choroideraemia MIM#303100
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)
CHRNG
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Escobar syndrome, MIM# 265000
  • Multiple pterygium syndrome, lethal type, MIM# 253290
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
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Myotonia congenita, recessive, MIM# 255700
  • Myotonia congenita, dominant, MIM# 160800
Tags
Red Red List (low evidence)
CLCN5
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Dent disease, MIM#300009
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)
CLDN19
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Deafness, autosomal recessive 116 MIM#619093
Tags
Red Red List (low evidence)
CLDN9
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Deafness, autosomal recessive 116 MIM#619093
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)
CLN8
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 8, MIM# 600143
  • Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003
Tags
Red Red List (low evidence)
CLRN1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Usher syndrome, type 3A, MIM# 276902
Tags
Red Red List (low evidence)
CNGB3
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Achromatopsia 3, MIM# 262300
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)
COG5
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Congenital disorder of glycosylation, type IIi, MIM# 613612
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)
COL17A1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Epidermolysis bullosa, junctional 4, intermediate MIM#619787
Tags
Red Red List (low evidence)
COL4A6
2 reviews
1 green 1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Deafness, X-linked 6 MIM#300914
Tags
Red Red List (low evidence)
COL5A1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Ehlers-Danlos syndrome, classic type, 1, MIM# 130000
  • Fibromuscular dysplasia, multifocal, MIM# 619329
Tags
Red Red List (low evidence)
COL5A2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Ehlers-Danlos syndrome, classic type, 2 MIM#130010
Tags
Red Red List (low evidence)
COL6A1
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Bethlem myopathy MIM#158810
  • Ullrich congenital muscular dystrophy MIM#254090
Tags
Red Red List (low evidence)
COL6A2
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Bethlem myopathy 1 MIM#158810
  • Ullrich congenital muscular dystrophy 1 MIM#254090
Tags
Red Red List (low evidence)
COL6A3
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Bethlem myopathy 1 MIM#158810
  • Dystonia 27 MIM#616411
  • Ullrich congenital muscular dystrophy 1 MIM#254090
Tags
Red Red List (low evidence)
COL7A1
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • EBD inversa, MIM# 226600
  • EBD, Bart type MIM# 132000 EBD, localisata variant
  • Epidermolysis bullosa dystrophica, MIM# 131750
  • Epidermolysis bullosa dystrophica, 226600
  • Epidermolysis bullosa pruriginosa 604129
  • Epidermolysis bullosa, pretibial, MIM# 131850
  • Transient bullous of the newborn 131705
Tags
Red Red List (low evidence)
COQ8B
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Nephrotic syndrome, type 9, MIM# 615573
Tags
  • for review
Red Red List (low evidence)
COQ9
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Coenzyme Q10 deficiency, primary, 5 , MIM#614654
Tags
  • for review
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
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Coproporphyria
  • Coproporphyria , MIM#121300
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
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Immunodeficiency, common variable, 7, MIM# 614699
Tags
  • immunological
  • treatable
Red Red List (low evidence)
CREBBP
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Rubinstein-Taybi syndrome 1, MIM# 180849
  • Menke-Hennekam syndrome 1, MIM# 618332
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)
CRLF1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Cold-induced sweating syndrome 1, MIM# 272430
Tags
Red Red List (low evidence)
CRYM
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Deafness, autosomal dominant 40 MIM#616357
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)
CSF2RA
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770
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, dilated, 1M
  • Cardiomyopathy, familial hypertrophic, 12
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)
CSTB
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800
Tags
Red Red List (low evidence)
CTC1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199
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)
CTR9
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Wilms tumour predisposition
Tags
  • cancer
Red Red List (low evidence)
CTSD
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 10, MIM# 610127
Tags
Red Red List (low evidence)
CTSK
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Pycnodysostosis - MIM#265800
Tags
Red Red List (low evidence)
CUL7
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • 3-M syndrome 1, MIM# 273750
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)
CYP4F22
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 5, MIM# 604777
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)
D2HGDH
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • D-2-hydroxyglutaric aciduria MIM#600721
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)
DCX
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Lissencephaly, X-linked, MIM# 300067
  • Subcortical laminal heterotopia, X-linked 300067
Tags
Red Red List (low evidence)
DDB2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740
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
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665
  • Warburg-Cinotti syndrome, MIM# 618175
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)
DFNA5
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Deafness, autosomal dominant 5, MIM# 600994
Tags
  • new gene name
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)
DGUOK
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880
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)
DIAPH1
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Seizures, cortical blindness, microcephaly syndrome, MIM# 616632
  • Deafness, autosomal dominant 1, with or without thrombocytopenia, MIM# 124900
Tags
Red Red List (low evidence)
DKC1
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category B gene
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Dyskeratosis congenita, X-linked, MIM# 305000
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)
DLD
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Maple syrup urine disease, type III, MIM#246900
Tags
Red Red List (low evidence)
DLL3
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300
Tags
Red Red List (low evidence)
DMPK
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Myotonic dystrophy 1, MIM# 160900
Tags
Red Red List (low evidence)
DMXL2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Developmental and epileptic encephalopathy 81, MIM#618663
Tags
Red Red List (low evidence)
DNAAF1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Ciliary dyskinesia, primary, 13, MIM# 613193
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)
DNAH11
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884
Tags
Red Red List (low evidence)
DNAH5
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Ciliary dyskinesia, primary, 3, with or without situs inversus, MIM# 608644
Tags
Red Red List (low evidence)
DNAI1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400
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)
DNAJB6
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal dominant 1 MIM#603511
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)
DNM2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482 Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482
Tags
Red Red List (low evidence)
DOLK
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Congenital disorder of glycosylation, type Im, MIM# 610768
  • DK1-CDG, MONDO:0012556
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)
DYSF
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Miyoshi muscular dystrophy 1 254130
  • Muscular dystrophy, limb-girdle, autosomal recessive 2 253601
  • Myopathy, distal, with anterior tibial onset 606768
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)
EDA
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100
  • Tooth agenesis, selective, X-linked 1 MIM#313500
Tags
Red Red List (low evidence)
EDAR
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884
  • autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619
Tags
Red Red List (low evidence)
EDARADD
1 review
1 red
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884
  • autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619
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
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770
  • {Epilepsy, juvenile absence, susceptibility to, 1}, 607631
Tags
Red Red List (low evidence)
EFTUD2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536
Tags
Red Red List (low evidence)
EGR2
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Charcot-Marie-Tooth disease, type 1D 607678
  • Dejerine-Sottas disease 145900
  • Hypomyelinating neuropathy, congenital, 1, MIM# 605253
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)
ELN
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • cutis laxa, autosomal dominant 1 MONDO:0007411
  • supravalvular aortic stenosis MONDO:0008504
Tags
Red Red List (low evidence)
ELP1
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Dysautonomia, familial MIM#223900
  • paediatric medulloblastoma
Tags
Red Red List (low evidence)
EMD
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Emery-Dreifuss muscular dystrophy 1, X-linked MIM#310300
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)
EPM2A
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Lafora disease MONDO:0009697
Tags
Red Red List (low evidence)
EPS8L2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Deafness, MIM#617637
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)
ERCC2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Xeroderma pigmentosum, group D, MIM# 278730
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)
ERCC5
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Cerebrooculofacioskeletal syndrome 3, MIM# 616570 MONDO:0014696
  • Xeroderma pigmentosum, group G/Cockayne syndrome, MIM# 278780 MONDO:0010216
Tags
Red Red List (low evidence)
ERCC6
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Cerebrooculofacioskeletal syndrome 1, MIM# 214150 MONDO:0008955
  • Cockayne syndrome, type B, MIM# 133540 MONDO:0019570
  • De Sanctis-Cacchione syndrome, MIM# 278800 MONDO:0010217
  • UV-sensitive syndrome 1, MIM# 600630 MONDO:0010909
Tags
Red Red List (low evidence)
ERCC8
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Cockayne syndrome, type A, MIM# 216400
  • MONDO:0019569
Tags
Red Red List (low evidence)
ESCO2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Juberg-Hayward syndrome, MIM# 216100
  • Roberts-SC phocomelia syndrome, MIM#268300
Tags
Red Red List (low evidence)
EVC
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Ellis-van Creveld syndrome, MIM# 225500
Tags
Red Red List (low evidence)
EVC2
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Ellis-van Creveld syndrome, MIM# 225500
  • Weyers acrofacial dysostosis, MIM# 193530
Tags
Red Red List (low evidence)
EXT1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Exostoses, multiple, type 1, MIM# 133700
Tags
Red Red List (low evidence)
EXT2
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Seizures, scoliosis, and macrocephaly syndrome, MIM#616682
Tags
Red Red List (low evidence)
EYA1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Anterior segment anomalies with or without cataract MIM#602588
  • Branchiootic syndrome 1 MIM#602588
  • Branchiootorenal syndrome 1, with or without cataracts MIM#113650
Tags
Red Red List (low evidence)
EYA4
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Deafness, autosomal dominant 10, MIM# 601316
Tags
Red Red List (low evidence)
EZH2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Weaver syndrome MIM#277590
Tags
Red Red List (low evidence)
F11
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Factor XI deficiency, autosomal dominant 612416
  • Factor XI deficiency, autosomal recessive, MIM#612416
Tags
Red Red List (low evidence)
F2
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Dysprothrombinemia MIM#613679
  • Hypoprothrombinemia MIM#613679
  • Thrombophilia due to thrombin defect MIM#188050
Tags
Red Red List (low evidence)
F5
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Factor V deficiency, MIM# 227400 MONDO:0009210
  • Thrombophilia due to activated protein C resistance, MIM# 188055 MONDO:0008560
  • {Thrombophilia, susceptibility to, due to factor V Leiden}, MIM# 188055
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)
FAM126A
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Hypomyelinating leukodystrophy 5 MONDO:0012514
Tags
Red Red List (low evidence)
FAM161A
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Retinitis pigmentosa 28, 606068
Tags
Red Red List (low evidence)
FAM20C
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Raine syndrome, MIM# 259775
Tags
Red Red List (low evidence)
FAM58A
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • syndactyly-telecanthus-anogenital and renal malformations syndrome MONDO:0010408
Tags
Red Red List (low evidence)
FANCE
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Fanconi anaemia
  • Fanconi anaemia, MIM#600901
Tags
Red Red List (low evidence)
FANCF
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Fanconi anaemia, MIM#603467
  • Fanconi anaemia
Tags
Red Red List (low evidence)
FANCL
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Fanconi anaemia
  • Fanconi anaemia, MIM#614083
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)
FAS
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Autoimmune lymphoproliferative syndrome, type IA, MIM# 601859
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
  • Age-related macular degeneration
  • Cutis laxa
Tags
Red Red List (low evidence)
FBN2
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Contractural arachnodactyly, congenital MIM#121050
Tags
Red Red List (low evidence)
FGD1
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Aarskog-Scott syndrome, MIM # 305400
  • Mental retardation, X-linked syndromic 16, MIM# 305400
Tags
Red Red List (low evidence)
FGD4
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Charcot Marie Tooth disease, type 4H, MIM#609311
Tags
Red Red List (low evidence)
FGFR1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Encephalocraniocutaneous lipomatosis, somatic mosaic 613001
  • Hartsfield syndrome 615465
  • Hypogonadotropic hypogonadism 2 with or without anosmia 147950
  • Jackson-Weiss syndrome 123150
  • Osteoglophonic dysplasia 166250
  • Pfeiffer syndrome 101600
  • Trigonocephaly 1 190440
Tags
Red Red List (low evidence)
FGFR2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,MIM# 207410
  • Apert syndrome, MIM# 101200
  • Beare-Stevenson cutis gyrata syndrome, MIM# 123790
  • Bent bone dysplasia syndrome, MIM# 614592
  • Craniofacial-skeletal-dermatologic dysplasia, MIM# 101600
  • Crouzon syndrome , MIM#123500
  • Jackson-Weiss syndrome,MIM# 123150
  • LADD syndrome, MIM# 149730
  • Pfeiffer syndrome,MIM# 101600
  • Saethre-Chotzen syndrome 101400
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)
FKRP
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Muscular dystrophy-dystroglycanopathy MONDO:0018276
Tags
Red Red List (low evidence)
FKTN
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Muscular dystrophy-dystroglycanopathy MONDO:0018276
Tags
Red Red List (low evidence)
FLCN
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Birt-Hogg-Dube syndrome, MIM# 135150
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)
FLNA
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • FLNA-related disorders
  • Frontometaphyseal dysplasia 305620
  • Otopalatodigital syndrome, type II -304120
  • Osteodysplasty Melnick Needles 309350
  • Melnick Needles syndrome 309350
  • Otopalatodigital syndrome, type II 304120
  • Frontometaphyseal dysplasia 305620
  • Terminal osseous dysplasia 300244
  • Otopalatodigital syndrome, type I -311300
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)
FOXC1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Axenfeld-Rieger syndrome, type 3, MIM# 602482
Tags
Red Red List (low evidence)
FOXC2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Lymphoedema-distichiasis syndrome, MIM# 153400
Tags
Red Red List (low evidence)
FOXF1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380
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)
FOXI1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • autosomal recessive distal renal tubular acidosis MONDO:0018440
Tags
Red Red List (low evidence)
FRAS1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Fraser syndrome 1, MIM#219000
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)
FTL
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Neurodegeneration with brain iron accumulation 3, MIM# 606159
Tags
Red Red List (low evidence)
FXN
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Friedreich ataxia MONDO:0100339
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)
GABRG2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Epileptic encephalopathy, early infantile, 74 MIM# 618396
  • Epilepsy, generalized, with febrile seizures plus, type 3 MIM# 607681
  • Febrile seizures, familial, 8 MIM# 607681
Tags
Red Red List (low evidence)
GAN
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Giant axonal neuropathy-1, MIM#256850
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
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Blackfan-Diamond anaemia, ORPHA:124
  • Congenital erythropoietic porphyria, ORPHA:79277
  • Porphyria, congenital erythropoietic
  • Dyserythropoietic anemia with thrombocytopenia
  • Anaemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM# 300835
  • Thrombocytopenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367
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)
GDAP1
1 review
1 red
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2K, MIM#607831
  • Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM#607706
  • Charcot-Marie-Tooth disease, recessive intermediate, A, MIM#608340
  • Charcot-Marie-Tooth disease, type 4A, MIM#214400
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)
GFM1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Combined oxidative phosphorylation deficiency 1, MIM#609060
Tags
  • review
Red Red List (low evidence)
GFPT1
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Congenital myasthenic syndrome, limb-girdle, MIM#610542
Tags
Red Red List (low evidence)
GJA1
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Oculodentodigital dysplasia, autosomal recessive, MIM# 257850
  • Oculodentodigital dysplasia, MIM# 164200
Tags
Red Red List (low evidence)
GJB1
1 review
1 red
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM# 302800
Tags
Red Red List (low evidence)
GJC2
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Spastic paraplegia 44, autosomal recessive MIM#613206
  • Leukodystrophy, hypomyelinating, 2 MIM#608804
  • Lymphatic malformation 3 MIM#613480
Tags
Red Red List (low evidence)
GLB1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • GM1-gangliosidosis, type I MIM#230500
  • GM1-gangliosidosis, type II MIM# 230600
  • GM1-gangliosidosis, type III MIM#230650
  • Mucopolysaccharidosis type IVB (Morquio) MIM#253010
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)
GLI3
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Polydactyly, postaxial, types A1 and B, MIM#174200
  • Greig cephalopolysyndactyly syndrome MIM#175700
  • Polydactyly, preaxial, type IV MIM#174700
  • Pallister-Hall syndrome MIM#146510
Tags
Red Red List (low evidence)
GLRB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Hyperekplexia 2, autosomal recessive
  • Hyperekplexia 2, MIM# 614619
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)
GNPTAB
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Mucolipidosis II alpha/beta, MIM# 252500, MONDO:0009650
  • Mucolipidosis III alpha/beta, MIM# 252600, MONDO:0018931
Tags
Red Red List (low evidence)
GNPTG
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Mucolipidosis III gamma, MIM# 252605
Tags
Red Red List (low evidence)
GNS
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Mucopolysaccharidosis type IIID, MIM# 252940
Tags
Red Red List (low evidence)
GPC3
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870
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)
GPR143
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Ocular albinism, type I, Nettleship-Falls type, MIM# 300500
Tags
Red Red List (low evidence)
GPR161
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Medulloblastoma predisposition syndrome MIM#155255
Tags
  • cancer
Red Red List (low evidence)
GPSM2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Chudley-McCullough syndrome MIM#604213
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)
GRHL2
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Ectodermal dysplasia/short stature syndrome MIM#616029
  • Corneal dystrophy, posterior polymorphous, 4, MIM# 618031
  • Deafness, autosomal dominant 28, MIM# 608641
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)
GSS
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Glutathione synthetase deficiency, MIM# 266130
  • Haemolytic anemia due to glutathione synthetase deficiency 231900
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
0 reviews
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)
HARS2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Perrault syndrome 2, MIM# 614926
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)
HCFC1
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Methylmalonic aciduria and homocysteinemia, cblX type, MIM# 309541
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)
HDAC8
1 review
1 red
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Cornelia de Lange syndrome 5, MIM# 300882
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)
HEXA
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • GM2-gangliosidosis, several forms 272800
  • Tay-Sachs disease 272800
Tags
Red Red List (low evidence)
HEXB
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800
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)
HGSNAT
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930
Tags
Red Red List (low evidence)
HINT1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Neuromyotonia and axonal neuropathy, autosomal recessive, MIM# 137200
  • Gamstorp-Wohlfart syndrome, MONDO:0007646
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)
HOMER2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Deafness, autosomal dominant 68, MIM# 616707
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
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Tyrosinemia, type III
  • Hawkinsinuria , MIM#140350
  • Tyrosinaemia, type III 276710
Tags
Red Red List (low evidence)
HPRT1
2 reviews
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Lesch-Nyhan syndrome, MIM# 300322
Tags
  • for review
Red Red List (low evidence)
HPS1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Hermansky-Pudlak syndrome 1, MIM# 203300
Tags
Red Red List (low evidence)
HPS3
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Hermansky-Pudlak syndrome 3, MIM# 614072
Tags
Red Red List (low evidence)
HPS4
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Hermansky-Pudlak syndrome 4, MIM# 614073
Tags
Red Red List (low evidence)
HPS5
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Hermansky-Pudlak syndrome 5 (MIM#614074)
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)
HRAS
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Costello syndrome, MIM# 218040
Tags
Red Red List (low evidence)
HSD17B10
2 reviews
2 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • HSD10 mitochondrial disease, MIM# 300438
Tags
Red Red List (low evidence)
HSD17B3
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Pseudohermaphroditism, male, with gynecomastia MIM#264300
Tags
Red Red List (low evidence)
HSD17B4
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • D-bifunctional protein deficiency, AR (MIM#261515)
  • Perrault syndrome 1, AR (MIM#233400)
Tags
Red Red List (low evidence)
HSPB8
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Neuropathy, distal hereditary motor type IIA, 158590
  • Charcot-Marie-Tooth disease, axonal, type 2L, MIM# 608673
Tags
Red Red List (low evidence)
HSPG2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Schwartz-Jampel syndrome, type 1, MIM# 255800
  • MONDO:0009717
  • Dyssegmental dysplasia, Silverman-Handmaker type, MIM# 224410
  • MONDO:0009140
Tags
Red Red List (low evidence)
HTRA1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • CARASIL syndrome, MIM# 600142
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)
IGHMBP2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Neuronopathy, distal hereditary motor, type VI, MIM# 604320
  • Charcot-Marie-Tooth disease, axonal, type 2S, MIM# 616155
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)
INSR
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Hyperinsulinemic hypoglycemia, familial, 5, MIM# 609968
  • Leprechaunism, MIM# 246200
  • Rabson-Mendenhall syndrome, MIM# 262190
Tags
Red Red List (low evidence)
INVS
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Nephronophthisis 2, infantile, (MIM#602088)
Tags
Red Red List (low evidence)
IQCB1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Senior-Loken syndrome 5, MIM# 609254
Tags
Red Red List (low evidence)
IRF6
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Popliteal pterygium syndrome 1MIM#119500
  • van der Woude syndrome MIM#119300
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)
ISPD
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, MIM# 616052
Tags
Red Red List (low evidence)
ITGA3
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital
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)
ITGB4
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Epidermolysis bullosa of hands and feet, MIM# 131800
  • Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650
  • Epidermolysis bullosa, junctional, with pyloric atresia, MIM# 226730
Tags
Red Red List (low evidence)
JAG1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Alagille syndrome, MIM# 1 118450
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)
KANSL1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Koolen-De Vries syndrome, MIM# 610443
Tags
Red Red List (low evidence)
KARS
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Leukoencephalopathy with or without deafness (LEPID), MIM#619147
  • Deafness, autosomal recessive 89, MIM# 613916
  • Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE), MIM#619196
Tags
Red Red List (low evidence)
KAT6B
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • SBBYSS syndrome MIM #603736
  • Genitopatellar syndrome MIM #606170
Tags
Red Red List (low evidence)
KBTBD13
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Nemaline myopathy 6, autosomal dominant, MIM# 609273
  • Hereditary motor neuropathy late-onset
  • limb girdle muscular dystrophy
Tags
Red Red List (low evidence)
KCNA1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Episodic ataxia/myokymia syndrome, MIM# 160120
Tags
Red Red List (low evidence)
KCNA5
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Red
Phenotypes
  • Atrial fibrillation, familial, 7, MIM# 612240
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
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Seizures, benign neonatal, 1, MIM# 121200
  • Epilepsy, benign neonatal
  • Developmental and epileptic encephalopathy 7, MIM# 613720
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)
KCNQ4
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Deafness, autosomal dominant 2A, MIM# 600101
Tags
Red Red List (low evidence)
KCNT1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Developmental and epileptic encephalopathy 14, MIM# 614959
Tags
Red Red List (low evidence)
KCTD7
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726)
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)
KDM6A
1 review
1 red
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Kabuki syndrome 2, MIM#300867
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)
KIF21A
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Fibrosis of extraocular muscles, congenital, 1/3B, MIM# 135700
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)
KIT
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Piebaldism, MIM# 172800 Gastrointestinal stromal tumor, familial, MIM# 606764
Tags
Red Red List (low evidence)
KLF1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Dyserythropoietic anaemia, congenital, type IV, MIM# 613673
Tags
Red Red List (low evidence)
KLHL40
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Nemaline myopathy 8, autosomal recessive, MIM# 615348
Tags
Red Red List (low evidence)
KLHL41
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Nemaline myopathy 9, MIM# 615731
Tags
Red Red List (low evidence)
KMT2D
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Kabuki syndrome 1, MIM# 147920
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)
KRAS
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Cardiofaciocutaneous syndrome 2, MIM# 615278
  • Noonan syndrome 3, MIM# 609942
Tags
Red Red List (low evidence)
KRT14
1 review
1 red
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Epidermolysis bullosa simplex, recessive 1, 601001
  • Dermatopathia pigmentosa reticularis, 125595
  • Epidermolysis bullosa simplex, Dowling-Meara type, 131760
  • Epidermolysis bullosa simplex, Koebner type, 131900
  • Epidermolysis bullosa simplex, Weber-Cockayne type, 131800
  • Naegeli-Franceschetti-Jadassohn syndrome, 161000
Tags
Red Red List (low evidence)
KRT16
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Palmoplantar keratoderma, nonepidermolytic, focal (MIM#613000) Pachyonychia congenita 1 (MIM#167200)
Tags
Red Red List (low evidence)
KRT17
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Pachyonychia congenita 2, MIM#167210 Steatocystoma multiplex, MIM# 184500
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)
KRT5
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Dowling-Degos disease 1, MIM# 179850
  • Epidermolysis bullosa simplex-MCR, MIM# 609352
  • Epidermolysis bullosa simplex-MP 131960
  • Epidermolysis bullosa simplex, Dowling-Meara type, MIM# 131760
  • Epidermolysis bullosa simplex, Koebner type, MIM# 131900
  • Epidermolysis bullosa simplex, recessive 1, MIM# 601001
  • Epidermolysis bullosa simplex, Weber-Cockayne type, MIM# 131800
Tags
Red Red List (low evidence)
KRT6A
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Pachyonychia congenita 3 (MIM#615726)
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)
L1CAM
2 reviews
1 green 1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Hydrocephalus due to aqueductal stenosis, MIM# 307000
Tags
Red Red List (low evidence)
LAMA3
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Epidermolysis bullosa, junctional 2B, severe, MIM# 619784
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)
LAMB2
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199
  • Pierson syndrome, MIM# 609049
Tags
Red Red List (low evidence)
LAMB3
2 reviews
2 red
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Amelogenesis imperfecta, type IA, MIM# 104530
  • Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700
  • Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650
Tags
Red Red List (low evidence)
LAMC2
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Epidermolysis bullosa, junctional 3B, severe, MIM# 619786
Tags
Red Red List (low evidence)
LAMTOR2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Immunodeficiency due to defect in MAPBP-interacting protein, MIM# 610798
Tags
Red Red List (low evidence)
LARGE1
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM# 608840
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)
LARS2
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021
  • Perrault syndrome 4, MIM# 615300
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)
LIAS
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Hyperglycinemia, lactic acidosis, and seizures MIM#614462
Tags
Red Red List (low evidence)
LIFR
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM# 601559
Tags
Red Red List (low evidence)
LITAF
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Charcot-Marie-Tooth disease, type 1C, MIM# 601098
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)
LMOD3
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Nemaline myopathy 10, MIM# 616165
Tags
Red Red List (low evidence)
LMX1A
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Deafness, autosomal dominant 7 MIM#601412
Tags
Red Red List (low evidence)
LMX1B
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Nail-patella syndrome, MIM# 161200, MONDO:0008061
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)
LRP2
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Donnai-Barrow syndrome, MIM#222448
Tags
Red Red List (low evidence)
LRP4
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Myasthenic syndrome, congenital, 17 , MIM#616304
Tags
Red Red List (low evidence)
LRPPRC
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) MIM#220111
Tags
Red Red List (low evidence)
LRRC6
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Ciliary dyskinesia, primary, 19, MIM# 614935
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)
LRSAM1
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436
Tags
Red Red List (low evidence)
LTBP4
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Cutis laxa, autosomal recessive, type IC (MIM# 613177)
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)
MAD2L2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Fanconi anemia, complementation group V, MIM# 617243
Tags
Red Red List (low evidence)
MAGI2
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Nephrotic syndrome, type 15, MIM# 617609
Tags
Red Red List (low evidence)
MAP2K1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Cardiofaciocutaneous syndrome 3, MIM# 615279
Tags
Red Red List (low evidence)
MAP2K2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Cardiofaciocutaneous syndrome 4, MIM# 615280
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
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Methionine adenosyltransferase deficiency MIM#250850
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)
MBTPS2
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • IFAP syndrome with or without BRESHECK syndrome MIM#308205
Tags
Red Red List (low evidence)
MCCC1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category B gene
  • BeginNGS
  • Expert Review Red
Phenotypes
  • 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200
Tags
Red Red List (low evidence)
MCCC2
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category B gene
  • BeginNGS
  • Expert Review Red
Phenotypes
  • 3-Methylcrotonyl-CoA carboxylase 2 deficiency MIM#210210
Tags
Red Red List (low evidence)
MCOLN1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Mucolipidosis IV, MIM# 252650
Tags
Red Red List (low evidence)
MCPH1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Microcephaly 1, primary, autosomal recessive, MIM# 251200
Tags
Red Red List (low evidence)
MECP2
2 reviews
2 red
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • MECP2-related disorders Rett syndrome, MIM# 312750 Mental retardation, X-linked, syndromic 13, MIM# 300055
Tags
Red Red List (low evidence)
MED12
2 reviews
2 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Ohdo syndrome, X-linked MIM#300895
  • Lujan-Fryns syndrome MIM#309520
  • Opitz-Kaveggia syndrome MIM#305450
  • Hardikar syndrome, MIM# 301068
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)
MED25
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643
  • Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449
Tags
Red Red List (low evidence)
MEGF10
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, MIM# 614399
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)
MFN2
2 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM #609260
  • Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM #617087
  • Hereditary motor and sensory neuropathy VIA, OMIM #601152
Tags
Red Red List (low evidence)
MFSD8
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 7, MIM# 610951
Tags
Red Red List (low evidence)
MGAT2
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Congenital disorder of glycosylation, type IIa, MIM# 212066
  • MGAT2-CDG, MONDO:0008908
Tags
Red Red List (low evidence)
MGP
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Keutel syndrome, MIM #245150
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)
MKKS
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Bardet-Biedl syndrome 6 (MIM#605231)
  • McKusick-Kaufman syndrome, MIM# 236700
Tags
Red Red List (low evidence)
MKS1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Joubert syndrome 28, MIM# 617121 MONDO:0014928
  • Meckel syndrome 1, MIM# 249000 MONDO:0009571
  • Bardet-Biedl syndrome 13, MIM# 615990 MONDO:0014441
Tags
Red Red List (low evidence)
MLC1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Megalencephalic leukoencephalopathy with subcortical cysts OMIM#604004
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)
MOCS2
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Molybdenum cofactor deficiency B, MIM#252160
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)
MPDU1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Congenital disorder of glycosylation, type If, MIM# 609180
  • MPDU1-CDG, MONDO:0012211
Tags
Red Red List (low evidence)
MPV17
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM# 256810
Tags
Red Red List (low evidence)
MPZ
2 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Charcot Marie Tooth disease, dominant intermediate D, 60779
  • Neuropathy, congenital hypomyelinating, 605253
  • Charcot Marie Tooth disease, type 2J, 607736
  • Dejerine Sottas disease, 145900
  • Charcot Marie Tooth disease, type 1B, 118200
  • Charcot Marie Tooth disease, type 2I, 607677
Tags
Red Red List (low evidence)
MPZL2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Deafness, autosomal recessive 111 MIM#618145
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)
MSRB3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Deafness, autosomal recessive
Tags
Red Red List (low evidence)
MSX2
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Craniosynostosis 2 (MIM#604757)
  • Parietal foramina 1 (MIM#168500)
  • Parietal foramina with cleidocranial dysplasia (MIM#168550)
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)
MTHFR
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category B gene
  • Expert Review Red
Phenotypes
  • Homocystinuria due to MTHFR deficiency MIM#236250
Tags
Red Red List (low evidence)
MTHFS
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367
Tags
  • metabolic
Red Red List (low evidence)
MTM1
2 reviews
2 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Myopathy, centronuclear, X-linked, MIM# 310400
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)
MUTYH
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Adenomas, multiple colorectal, MIM# 608456
Tags
Red Red List (low evidence)
MYBPC1
2 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Myopathy, congenital, with tremor MIM#618524
  • Lethal congenital contracture syndrome 4, MIM# 614915
  • Arthrogryposis, distal, type 1B 614335
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)
MYCN
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Feingold syndrome 1, MIM# 164280
Tags
Red Red List (low evidence)
MYH14
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Deafness, autosomal dominant 4A, MIM# 600652
  • Peripheral neuropathy, myopathy, hoarseness, and hearing loss 614369
Tags
Red Red List (low evidence)
MYH2
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Proximal myopathy and ophthalmoplegia, MIM# 605637
Tags
Red Red List (low evidence)
MYH3
2 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Arthrogryposis, distal, type 2A (Freeman-Sheldon) 193700
  • Arthrogryposis, distal, type 2B3 (Sheldon-Hall) 618436
  • Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A 178110
  • Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B 618469
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, dilated
  • Cardiomyopathy, familial hypertrophic
  • Atrial septal defect
Tags
Red Red List (low evidence)
MYH9
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Deafness, autosomal dominant 17, MIM# 603622
  • Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100
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)
MYO9A
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Myasthenic syndrome, congenital, 24, presynaptic, MIM# 618198
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)
NAGA
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Kanzaki disease, MIM# 609242
Tags
Red Red List (low evidence)
NAXE
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, MIM# 617186
Tags
  • metabolic
  • treatable
Red Red List (low evidence)
NBN
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Nijmegen breakage syndrome, MIM#251260
Tags
Red Red List (low evidence)
NDP
2 reviews
1 green 1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Norrie disease, MIM# 310600
Tags
Red Red List (low evidence)
NEB
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Nemaline myopathy 2, autosomal recessive 256030
  • Arthrogryposis multiplex congenita 6, MIM# 619334
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)
NEFL
2 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Charcot-Marie-Tooth disease, dominant intermediate G, MIM# 617882
  • Charcot-Marie-Tooth disease, type 1F, MIM# 607734
  • Charcot-Marie-Tooth disease, type 2E 607684
Tags
Red Red List (low evidence)
NEK1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520
Tags
Red Red List (low evidence)
NEK8
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • MONDO:0014174
  • Renal-hepatic-pancreatic dysplasia 2, MIM# 615415
Tags
Red Red List (low evidence)
NEU1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Sialidosis, type I and type II, MIM# 256550
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)
NF1
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Neurofibromatosis, type 1, MIM# 162200
Tags
  • for review
Red Red List (low evidence)
NF2
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Neurofibromatosis, type 2 (MIM# 101000)
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)
NGLY1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Congenital disorder of deglycosylation, MIM# 615273
Tags
Red Red List (low evidence)
NHLRC1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Epilepsy, progressive myoclonic 2B (Lafora), MIM# 254780
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)
NIPBL
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Cornelia de Lange syndrome 1, MIM# 122470
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
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Intellectual developmental disorder, X-linked MIM#300495
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)
NOG
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Brachydactyly, type B2 - MIM#611377
  • Multiple synostoses syndrome 1 (MIM#186500)
  • Stapes ankylosis with broad thumbs and toes (MIM#184460)
  • Symphalangism, proximal, 1A (MIM#185800)
  • Tarsal-carpal coalition syndrome (MIM#186570)
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)
NOTCH2
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Alagille syndrome 2 (MIM#610205)
  • Hajdu-Cheney syndrome (MIM#102500)
Tags
Red Red List (low evidence)
NOTCH3
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, MIM# 125310
Tags
Red Red List (low evidence)
NPHP1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Joubert syndrome 4, MIM# 609583
  • Nephronophthisis 1, juvenile, MIM# 256100
  • Senior-Loken syndrome-1, MIM# 266900
Tags
Red Red List (low evidence)
NPHP3
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Renal-hepatic-pancreatic dysplasia 1, MIM# 208540
Tags
Red Red List (low evidence)
NPHP4
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Nephronophthisis 4, MIM# 606966 Senior-Loken syndrome 4, MIM# 606996
Tags
Red Red List (low evidence)
NPHS1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Nephrotic syndrome, type 1, MIM# 256300
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)
NSD1
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Sotos syndrome 1, MIM# 117550
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
  • CK syndrome
  • CHILD syndrome
Tags
Red Red List (low evidence)
NTRK1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Congenital insensitivity to pain with anhidrosis MIM#256800
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)
OBSL1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • 3-M syndrome 2, MIM #612921
Tags
Red Red List (low evidence)
OCA2
2 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Albinism, brown oculocutaneous, MIM# 203200
  • Albinism, oculocutaneous, type II, MIM# 203200
Tags
Red Red List (low evidence)
OCRL
2 reviews
2 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Dent disease 2, MIM# 300555
  • Lowe syndrome , MIM#309000
Tags
Red Red List (low evidence)
OFD1
2 reviews
2 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Retinitis pigmentosa 23, MIM# 300424
  • Joubert syndrome 10, MIM# 300804
  • Orofaciodigital syndrome I, MIM# 311200
Tags
Red Red List (low evidence)
OPA1
2 reviews
2 red
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)MIM# 616896
  • Behr syndrome MIM#210000, AR
  • Optic atrophy 1, MIM#165500
  • Optic atrophy plus syndrome, MIM# 125250
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)
ORC1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Meier-Gorlin syndrome 1, MIM# 224690
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)
OSMR
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Amyloidosis, primary localized cutaneous, 1 - MIM#105250
Tags
Red Red List (low evidence)
OSTM1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Osteopetrosis, autosomal recessive 5, MIM#259720
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)
P2RY12
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Bleeding disorder, platelet-type, 8, MIM# 609821
  • MONDO:0012354
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)
PAK3
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Mental retardation syndrome, X-linked 30, MIM#300558
Tags
Red Red List (low evidence)
PANK2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Neurodegeneration with brain iron accumulation 1 (aka Hallervorden-Spatz disease), OMIM 234200
Tags
Red Red List (low evidence)
PAX5
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • {Leukemia, acute lymphoblastic, susceptibility to, 3} MIM#615545
Tags
Red Red List (low evidence)
PAX6
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Aniridia, OMIM 106210
Tags
Red Red List (low evidence)
PCNT
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Microcephalic osteodysplastic primordial dwarfism, type II, 210720
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)
PDE4D
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Acrodysostosis 2, with or without hormone resistance, MIM#614613
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)
PDSS1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Coenzyme Q10 deficiency, primary, 2, MIM# 614651
  • Deafness - encephaloneuropathy - obesity - valvulopathy Neonatal
Tags
Red Red List (low evidence)
PDSS2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Coenzyme Q10 deficiency, primary, 3, MIM# 614652
  • Leigh syndrome with nephropathy and COQ10 deficiency
Tags
Red Red List (low evidence)
PEX1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Peroxisome biogenesis disorder 1A (Zellweger), MIM# 214100
Tags
Red Red List (low evidence)
PEX10
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Peroxisome biogenesis disorder 6A (Zellweger) (MIM#614870)
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)
PEX12
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Peroxisome biogenesis disorder 3A (Zellweger) (MIM#614859)
Tags
Red Red List (low evidence)
PEX13
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Peroxisome biogenesis disorder 11A (Zellweger) (MIM#614883)
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)
PEX2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Peroxisome biogenesis disorder 5A (Zellweger) MIM#614866
Tags
Red Red List (low evidence)
PEX26
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872
Tags
Red Red List (low evidence)
PEX3
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Peroxisome biogenesis disorder 10A (Zellweger) 614882
Tags
Red Red List (low evidence)
PEX5
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Peroxisome biogenesis disorder 10A (Zellweger) 614882
Tags
Red Red List (low evidence)
PEX6
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862)
Tags
Red Red List (low evidence)
PEX7
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Peroxisome biogenesis disorder 9B, MIM# 614879
  • Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100
Tags
Red Red List (low evidence)
PFKM
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Glycogen storage disease VII (MIM#232800)
Tags
Red Red List (low evidence)
PHF6
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Borjeson-Forssman-Lehmann syndrome, MIM# 301900
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)
PHOX2B
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Red
Phenotypes
  • Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, MIM# 209880
Tags
Red Red List (low evidence)
PHYH
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Refsum disease, MIM# 266500
Tags
  • treatable
Red Red List (low evidence)
PIEZO2
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Marden-Walker syndrome (MIM#248700)
  • Arthrogryposis, distal, type 3 (MIM#114300)
  • Arthrogryposis, distal, type 5 (MIM#108145)
  • Arthrogryposis, distal, with impaired proprioception and touch, MIM# 617146
Tags
Red Red List (low evidence)
PIGA
2 reviews
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466
Tags
Red Red List (low evidence)
PIK3CA
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • PIK3CA related overgrowth spectrum
Tags
Red Red List (low evidence)
PINK1
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Parkinson disease 6, early onset, MIM#605909
Tags
Red Red List (low evidence)
PKHD1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200
Tags
Red Red List (low evidence)
PLA2G6
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Infantile neuroaxonal dystrophy 1 MIM#256600
  • Neurodegeneration with brain iron accumulation 2B MIM#610217
  • Parkinson disease 14, autosomal recessive MIM#612953
Tags
Red Red List (low evidence)
PLCE1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Nephrotic syndrome, type 3, MIM# 610725
Tags
Red Red List (low evidence)
PLEC
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Epidermolysis bullosa simplex with muscular dystrophy, MIM# 226670
  • Epidermolysis bullosa simplex with pyloric atresia, MIM# 612138
  • Epidermolysis bullosa simplex, Ogna type MIM#131950
  • Muscular dystrophy, limb-girdle, autosomal recessive 17, MIM# 613723
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)
PLOD1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Ehlers-Danlos syndrome, kyphoscoliotic type, MIM# 225400
Tags
Red Red List (low evidence)
PLOD2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Bruck syndrome 2, MIM# 609220
Tags
Red Red List (low evidence)
PLP1
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Pelizaeus-Merzbacher disease MIM#312080
  • Spastic paraplegia 2, X-linked MIM#312920
Tags
Red Red List (low evidence)
PMM2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Congenital disorder of glycosylation, type Ia, MIM# 212065
Tags
Red Red List (low evidence)
PMP22
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Charcot-Marie-Tooth disease, type 1A, MIM# 118220
  • Charcot-Marie-Tooth disease, type 1E, MIM# 118300
  • Dejerine-Sottas disease, MIM# 145900
  • Neuropathy, recurrent, with pressure palsies 162500
  • Roussy-Levy syndrome 180800
Tags
Red Red List (low evidence)
PNKD
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800
Tags
Red Red List (low evidence)
PNKP
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Ataxia-oculomotor apraxia 4, MIM#616267
  • Microcephaly, seizures, and developmental delay, MIM#613402
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)
POLG
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Mitochondrial DNA depletion syndrome 4A (Alpers type) MIM#203700
  • Mitochondrial DNA depletion syndrome 4B (MNGIE type) MIM#613662
  • Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) MIM#607459
  • Progressive external ophthalmoplegia, autosomal recessive 1 MIM#258450
  • Progressive external ophthalmoplegia, autosomal dominant 1, MIM# 157640
Tags
Red Red List (low evidence)
POLH
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Xeroderma pigmentosum, variant type, MIM# 278750
Tags
Red Red List (low evidence)
POMGNT1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 MIM#614830
  • Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 MIM#618135
  • Retinitis pigmentosa 76, MIM# 617123
Tags
Red Red List (low evidence)
POMT1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308
Tags
Red Red List (low evidence)
POMT2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 MIM# 613158
Tags
Red Red List (low evidence)
PORCN
1 review
1 red
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Focal dermal hypoplasia, MIM#305600
Tags
Red Red List (low evidence)
POU4F3
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Deafness, autosomal dominant 15, MIM# 602459
Tags
Red Red List (low evidence)
PPIB
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Osteogenesis imperfecta, type IX, MIM# 259440
Tags
  • skeletal
Red Red List (low evidence)
PPT1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 1, MIM# 256730
Tags
Red Red List (low evidence)
PQBP1
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Renpenning syndrome, MIM#309500
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
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Hypotonia - cystinuria syndrome
  • Myasthenic syndrome, congenital, 22, MIM# 616224
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
  • Cardiomyopathy, hypertrophic
  • Wolff-Parkinson-White syndrome
  • Glycogen storage disease of heart, lethal congenital
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)
PROC
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Thrombophilia due to protein C deficiency, autosomal dominant (176860)
  • Thrombophilia due to protein C deficiency, autosomal recessive (612304)
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)
PROKR2
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200
Tags
Red Red List (low evidence)
PROS1
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Thrombophilia 5 due to protein S deficiency, autosomal dominant, MIM# 612336
  • Thrombophilia 5 due to protein S deficiency, autosomal recessive, MIM# 614514
Tags
Red Red List (low evidence)
PRPS1
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Charcot-Marie-Tooth disease
  • Arts syndrome
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)
PRX
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Charcot-Marie-Tooth disease, type 4F, MIM# 614895
  • Dejerine-Sottas disease, MIM# 145900
Tags
Red Red List (low evidence)
PSAP
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Parkinson disease
  • Combined SAP deficiency, MIM# 611721
  • Encephalopathy due to prosaposin deficiency, MONDO:0012719
  • Krabbe disease, atypical, MIM# 611722
  • Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900
  • Gaucher disease, atypical, MIM# 610539
Tags
Red Red List (low evidence)
PSAT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Phosphoserine aminotransferase deficiency , MIM# 610992
  • 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)
PTEN
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Cowden syndrome 1, MIM# 158350
  • Macrocephaly/autism syndrome, MIM# 605309
Tags
  • cancer
  • for review
Red Red List (low evidence)
PTH1R
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Failure of tooth eruption, primary MIM#125350
  • Eiken syndrome MIM#600002
  • Metaphyseal chondrodysplasia, Murk Jansen type MIM#156400
  • Chondrodysplasia, Blomstrand type MIM#215045
Tags
Red Red List (low evidence)
PTPN11
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Noonan syndrome 1, MIM# 163950
Tags
Red Red List (low evidence)
PYGM
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • McArdle disease, MIM# 232600
  • Glycogen storage disease, autosomal dominant
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)
RAB23
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Carpenter syndrome (MIM#201000)
Tags
Red Red List (low evidence)
RAB3GAP1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Warburg micro syndrome 1, MIM# 600118 Martsolf syndrome 2, MIM# 619420
Tags
Red Red List (low evidence)
RAB3GAP2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Warburg micro syndrome 2, MIM# 614225
Tags
Red Red List (low evidence)
RAB7A
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Charcot-Marie-Tooth disease, type 2B, MIM# 600882
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)
RAF1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Noonan syndrome 5, MIM# 611553
Tags
Red Red List (low evidence)
RAI1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Smith-Magenis syndrome (MIM#182290)
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)
RASA1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Capillary malformation-arteriovenous malformation 1, MIM#608354
Tags
Red Red List (low evidence)
RBM8A
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Thrombocytopenia-absent radius syndrome, MIM# 274000
Tags
Red Red List (low evidence)
RECQL4
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Rothmund-Thomson syndrome, type 2, MIM# 268400
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)
REN
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Renal tubular dysgenesis, MIM# 267430
Tags
Red Red List (low evidence)
RETREG1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115
Tags
Red Red List (low evidence)
RFWD3
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Fanconi anaemia, complementation group W, MIM# 617784
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)
ROR2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Robinow syndrome, autosomal recessive - MIM#268310
Tags
Red Red List (low evidence)
RPGR
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, MIM# 300455
Tags
Red Red List (low evidence)
RPGRIP1L
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Joubert syndrome 7, MIM# 611560
  • Meckel syndrome 5, MIM# 611561
  • COACH syndrome 3, MIM# 619113
  • Nephronophthisis
Tags
Red Red List (low evidence)
RPL18
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Diamond-Blackfan anaemia 18 , MIM# 618310
Tags
Red Red List (low evidence)
RPL26
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Diamond-Blackfan anaemia 11 , MIM# 614900
Tags
Red Red List (low evidence)
RPL27
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Diamond-Blackfan anaemia 16 , MIM# 617408
Tags
Red Red List (low evidence)
RPL35
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Diamond-Blackfan anaemia 19 , MIM# 618312
Tags
Red Red List (low evidence)
RPS15
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Diamond-Blackfan anaemia, MONDO:0015253, RPS15-related
Tags
Red Red List (low evidence)
RPS15A
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Diamond-Blackfan anaemia 20, MIM# 618313
Tags
  • for review
  • haematological
  • treatable
Red Red List (low evidence)
RPS27
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Diamond-Blackfan anaemia 17, MIM# 617409
Tags
  • for review
  • haematological
  • treatable
Red Red List (low evidence)
RPS28
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164
Tags
  • for review
  • haematological
  • treatable
Red Red List (low evidence)
RPS29
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Diamond-Blackfan anaemia 13, MIM# 615909
Tags
  • for review
  • haematological
  • treatable
Red Red List (low evidence)
RPS6KA3
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Coffin-Lowry syndrome MIM# 303600
Tags
Red Red List (low evidence)
RRM2B
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075
  • Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075
  • Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, MIM# 268315
Tags
Red Red List (low evidence)
RS1
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Retinoschisis, MIM#312700
Tags
Red Red List (low evidence)
RSPH4A
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Ciliary dyskinesia, primary, 11 (MIM#612649)
Tags
Red Red List (low evidence)
RSPH9
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Ciliary dyskinesia, primary, 12 (MIM#612650)
Tags
Red Red List (low evidence)
RUNX2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Cleidocranial dysplasia MIM#119600
  • Cleidocranial dysplasia, forme fruste, dental anomalies only MIM#119600
  • Cleidocranial dysplasia, forme fruste, with brachydactyly MIM#119600
  • Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly MIM#156510
Tags
Red Red List (low evidence)
SACS
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Spastic ataxia, Charlevoix-Saguenay type MIM#270550
Tags
Red Red List (low evidence)
SALL1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Townes-Brocks syndrome 1, MIM#107480
Tags
Red Red List (low evidence)
SARS
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Neurodevelopmental disorder with microcephaly, ataxia, and seizures MIM#617709
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)
SCARB2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Epilepsy, progressive myoclonic 4, with or without renal failure MIM#254900
Tags
Red Red List (low evidence)
SCN11A
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548
Tags
Red Red List (low evidence)
SCN1A
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM#604403
  • Developmental and epileptic encephalopathy 6B, non-Dravet , MIM#619317
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)
SCN2A
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Developmental and epileptic encephalopathy 11, MIM# 613721
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)
SCN3A
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Epileptic encephalopathy, early infantile, 62, MIM# 617938
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
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Hyperkalemic periodic paralysis, type 2, MIM# 170500
  • Hypokalemic periodic paralysis, type 2
  • Paramyotonia congenita , MIM#168300
  • Myotonia congenita, atypical, acetazolamide-responsive , MIM#608390
  • Myasthenic syndrome, congenital, 16, MIM# 614198
  • Hyperkalemic periodic paralysis, type 2
  • Hypokalemic periodic paralysis, type 2, MIM# 613345
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)
SCN8A
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Developmental and epileptic encephalopathy 13, MIM#614558
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)
SCO2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 2, MC4DN2, MIM#604377
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)
SDHD
2 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167
  • Paragangliomas 1, with or without deafness, MIM# 168000
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)
SELENON
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Myopathy, congenital, with fiber-type disproportion, MIM# 255310
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)
SERPINA1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Emphysema-cirrhosis, due to AAT deficiency, MIM# 613490
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)
SERPING1
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Angioedema, hereditary, 1 and 2 MIM#106100
Tags
  • immunological
  • treatable
Red Red List (low evidence)
SETBP1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Schinzel-Giedion midface retraction syndrome, MIM# 269150
Tags
Red Red List (low evidence)
SETX
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 1, 606002
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)
SFTPB
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120
Tags
Red Red List (low evidence)
SFTPC
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 2, MIM# 610913
Tags
Red Red List (low evidence)
SGCA
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099
Tags
Red Red List (low evidence)
SGCB
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286
Tags
Red Red List (low evidence)
SGCD
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287
Tags
Red Red List (low evidence)
SGCG
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 5 MIM#253700
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)
SH3TC2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Charcot-Marie-Tooth disease, type 4C MIM#601596
Tags
Red Red List (low evidence)
SHANK3
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Phelan-McDermid syndrome, MIM# 606232
  • MONDO:0011652
Tags
Red Red List (low evidence)
SHH
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Holoprosencephaly 3, MIM#142945
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)
SIL1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Marinesco-Sjogren syndrome, MIM#248800
Tags
Red Red List (low evidence)
SIX1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Branchiootic syndrome 3, MIM# 608389
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)
SIX3
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Holoprosencephaly 2, MIM# 157170
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)
SKI
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Shprintzen-Goldberg syndrome, MIM#182212
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)
SLC12A3
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Gitelman syndrome, MIM# 263800
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)
SLC12A6
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Agenesis of the corpus callosum with peripheral neuropathy, MIM#21800
Tags
Red Red List (low evidence)
SLC13A5
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905
Tags
  • for review
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)
SLC17A5
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Sialic acid storage disorder, infantile, MIM# 269920
Tags
Red Red List (low evidence)
SLC1A3
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Episodic ataxia, type 6 MIM#612656
Tags
  • neurological
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)
SLC25A4
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184
  • Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418
Tags
Red Red List (low evidence)
SLC26A2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Achondrogenesis 1B, MIM#600972
Tags
  • for review
Red Red List (low evidence)
SLC27A4
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Ichthyosis prematurity syndrome, MIM#608649
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)
SLC2A10
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Arterial tortuosity syndrome MIM#208050
Tags
Red Red List (low evidence)
SLC33A1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Spastic paraplegia, autosomal dominant
  • Congenital cataracts, hearing loss and low serum copper and ceruloplasmin
Tags
Red Red List (low evidence)
SLC34A2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Pulmonary alveolar microlithiasis, MIM# 265100
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)
SLC35D1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Schneckenbecken dysplasia 269250, MONDO:0010013
Tags
Red Red List (low evidence)
SLC3A1
2 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Cystinuria, MIM# 220100
Tags
  • for review
  • renal
  • treatable
Red Red List (low evidence)
SLC41A1
0 reviews
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)
SLC45A2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Albinism, oculocutaneous, type IV, MIM# 606574
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)
SLC4A11
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Corneal endothelial dystrophy and perceptive deafness, MIM# 217400
Tags
Red Red List (low evidence)
SLC4A4
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Renal tubular acidosis, proximal, with ocular abnormalities, MIM# 604278
Tags
  • for review
Red Red List (low evidence)
SLC5A2
1 review
1 red
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Renal glucosuria, MIM# 233100
Tags
Red Red List (low evidence)
SLC6A19
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hartnup disorder, MIM # 234500
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)
SLC7A9
2 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Cystinuria, MIM# 220100
Tags
  • for review
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)
SLC9A6
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Mental retardation, X-linked syndromic, Christianson type, MIM# 300243
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)
SLCO2A1
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441
  • Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100
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)
SMAD4
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Polyposis, juvenile intestinal, MIM# 174900
  • Myhre syndrome, MIM# 139210
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)
SMC1A
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Cornelia de Lange syndrome 2, MIM# 300590
  • Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM# 301044
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)
SMPX
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Deafness, X-linked 4, MIM# 300066
Tags
Red Red List (low evidence)
SNAP25
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, SNAP25-related
Tags
  • for review
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)
SORD
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Sorbitol dehydrogenase deficiency with peripheral neuropathy MIM#618912
Tags
  • metabolic
  • treatable
Red Red List (low evidence)
SOX10
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Shah-Waardenburg syndrome
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)
SOX9
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Campomelic dysplasia, MIM# 114290
Tags
Red Red List (low evidence)
SPARC
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Osteogenesis imperfecta, type XVII, MIM# 616507
Tags
  • skeletal
Red Red List (low evidence)
SPEG
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Centronuclear myopathy 5, MIM# 615959
Tags
Red Red List (low evidence)
SPINK5
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Netherton syndrome MIM# 256500
Tags
Red Red List (low evidence)
SPRED1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Legius syndrome, MIM# 611431
Tags
Red Red List (low evidence)
SPTA1
1 review
1 red
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Elliptocytosis-2 MIM# 130600
  • Pyropoikilocytosis MIM# 266140
  • Spherocytosis, type 3 MIM# 270970
Tags
Red Red List (low evidence)
SPTB
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Anaemia, neonatal haemolytic, fatal or near-fatal MIM# 617948
Tags
  • for review
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)
SRCAP
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Floating-Harbor syndrome MIM#136140
  • Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, MIM# 619595
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)
STAC3
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Myopathy, congenital, Baily-Bloch, MIM# 255995
Tags
Red Red List (low evidence)
STRA6
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Microphthalmia, syndromic 9, MIM# 601186
Tags
Red Red List (low evidence)
STS
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Ichthyosis, X-linked, MIM# 308100
Tags
Red Red List (low evidence)
STXBP1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Developmental and epileptic encephalopathy 4, MIM# 612164
Tags
Red Red List (low evidence)
SUCLA2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073, MONDO:0012791
Tags
Red Red List (low evidence)
SUCLG1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) MIM#245400
Tags
Red Red List (low evidence)
SUFU
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • {Medulloblastoma} MIM#155255
Tags
Red Red List (low evidence)
SURF1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Charcot-Marie-Tooth disease, type 4K MIM#616684
  • Mitochondrial complex IV deficiency, nuclear type 1 MIM#220110
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)
TAZ
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Barth syndrome, MIM#302060
Tags
Red Red List (low evidence)
TBC1D24
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • DOORS syndrome MIM#220500
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)
TBX1
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • DiGeorge syndrome MIM# 188400
  • Velocardiofacial syndrome MIM# 192430
Tags
  • cardiac
  • immunological
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)
TBX5
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Holt-Oram syndrome, MIM# 142900
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)
TCOF1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Treacher Collins syndrome 1, MIM# 154500
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)
TFAP2A
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Branchiooculofacial syndrome, MIM 107580
Tags
Red Red List (low evidence)
TFAP2B
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Char syndrome, MIM 169100
Tags
Red Red List (low evidence)
TFG
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Hereditary motor and sensory neuropathy, Okinawa type, MIM# 604484
  • Spastic paraplegia 57, autosomal recessive, MIM# 615658
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)
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)
TGM1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 1 (MIM#242300)
Tags
Red Red List (low evidence)
TGM5
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Peeling skin syndrome 2, MIM# 609796
Tags
Red Red List (low evidence)
THAP11
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Methylmalonic aciduria, cblC type-like, MIM# 620940
  • Inborn disorder of cobalamin metabolism and transport, MONDO:0019220, THAP11-related
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)
THRB
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Thyroid hormone resistance, MIM# 188570
  • Thyroid hormone resistance, autosomal recessive, MIM# 274300
  • Thyroid hormone resistance, selective pituitary, MIM# 145650
Tags
Red Red List (low evidence)
TIMM8A
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Mohr-Tranebjaerg syndrome MIM#304700
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
  • Joubert syndrome
  • Meckel 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)
TMEM43
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 5 MIM#604400
Tags
  • cardiac
  • treatable
Red Red List (low evidence)
TMEM67
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • COACH syndrome MIM#216360
  • Joubert syndrome MIM#10688
  • Meckel syndrome MIM#607361
  • Nephronophthisis MIM#613550
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)
TNFAIP3
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Autoinflammatory syndrome, familial, Behcet-like 1 MIM#616744
Tags
  • immunological
  • treatable
Red Red List (low evidence)
TNFRSF13B
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Immunodeficiency, common variable, 2 MIM#240500
Tags
  • immunological
  • treatable
Red Red List (low evidence)
TNFRSF13C
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Immunodeficiency, common variable, 4 MIM#613494
Tags
Red Red List (low evidence)
TNFRSF1A
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Periodic fever, familial MIM#142680
Tags
Red Red List (low evidence)
TNNI2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Arthrogryposis, distal, type 2B1 MIM#601680
Tags
Red Red List (low evidence)
TNNT1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Nemaline myopathy 5, Amish type MIM#605355
Tags
Red Red List (low evidence)
TNNT3
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Arthrogryposis, distal MIM#618435
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)
TPM2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Arthrgryposis MIM#108120
  • Nemaline myopathy MIM#609285
Tags
Red Red List (low evidence)
TPM3
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • CAP myopathy 1, MIM# 609284
  • Myopathy, congenital, with fiber-type disproportion, MIM# 255310
  • Nemaline myopathy 1, autosomal dominant or recessive, MIM# 609284
Tags
Red Red List (low evidence)
TRAC
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Immunodeficiency 7, TCR-alpha/beta deficient, MIM#615387
Tags
  • founder
  • technically challenging
Red Red List (low evidence)
TRAPPC2
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Spondyloepiphyseal dysplasia tarda MIM#313400
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)
TRIM32
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 8 MIM#254110
Tags
Red Red List (low evidence)
TRIM37
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Mulibrey nanism MIM#253250
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)
TSC1
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Tuberous sclerosis 1, MIM#191100
Tags
Red Red List (low evidence)
TSC2
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Tuberous sclerosis 2, MIM#613254
Tags
Red Red List (low evidence)
TSEN54
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Pontocerebellar hypoplasia type 2A MIM#277470
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)
TSR2
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Diamond-Blackfan anaemia 14 with mandibulofacial dysostosis, MIM# 300946
Tags
Red Red List (low evidence)
TTC21B
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819
  • Nephronophthisis 12, MIM# 613820
Tags
Red Red List (low evidence)
TTC37
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Trichohepatoenteric syndrome 1, MIM#222470
Tags
Red Red List (low evidence)
TTC7A
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Immunodeficiency, combined, with intestinal atresias, MIM#243150
Tags
Red Red List (low evidence)
TTR
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Amyloidosis, hereditary, transthyretin-related MIM#105210
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)
TUBB4B
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Leber congenital amaurosis with early-onset deafness MIM#617879
Tags
Red Red List (low evidence)
TWIST1
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Craniosynostosis 1, MIM# 123100
  • Saethre-Chotzen syndrome with or without eyelid anomalies, MIM# 101400
  • Sweeny-Cox syndrome, MIM# 617746
  • Robinow-Sorauf syndrome, MIM# 180750
Tags
Red Red List (low evidence)
TWNK
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245
Tags
Red Red List (low evidence)
TYMP
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Mitochondrial DNA depletion syndrome 1 (MNGIE type) MIM#603041
Tags
Red Red List (low evidence)
TYR
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Oculocutaneous albinism type 1 MIM## 203100, # 606952
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)
UBR1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Johanson-Blizzard syndrome MIM#243800
Tags
Red Red List (low evidence)
UCP2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • BeginNGS
  • Expert Review Red
Phenotypes
  • Hyperinsulinism, ORPHA:276556
  • 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)
UMOD
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Tubulointerstitial kidney disease MIM#162000
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)
UROD
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Porphyria, hepatoerythropoietic MIM#176100
Tags
  • for review
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)
VCAN
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Wagner syndrome MIM#143200
Tags
Red Red List (low evidence)
VCP
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia MIM#167320
  • Charcot-Marie-Tooth disease, type 2Y, MIM# 616687
Tags
Red Red List (low evidence)
VIPAS39
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis MIM#613404
Tags
Red Red List (low evidence)
VLDLR
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion MIM#224050
Tags
Red Red List (low evidence)
VPS13A
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Choreoacanthocytosis MIM#200150
Tags
Red Red List (low evidence)
VPS13B
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Cohen syndrome MIM#216550
Tags
Red Red List (low evidence)
VPS33B
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis MIM#208085
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)
WDR62
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations MIM#604317
Tags
Red Red List (low evidence)
WFS1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Wolfram syndrome MIM#222300
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)
WRAP53
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Dyskeratosis congenita, autosomal recessive 3, MIM# 613988
Tags
Red Red List (low evidence)
WRN
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Werner syndrome MIM#277700
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)
ZEB2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Mowat-Wilson syndrome MIM# 235730
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)
ZIC2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Holoprosencephaly MIM#603073
Tags
Red Red List (low evidence)
ZIC3
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • X linked heterotaxy and congenital heart defects MIM:306955
Tags
Red Red List (low evidence)
ZMPSTE24
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Restrictive dermopathy 1, MIM# MIM:275210
Tags
Red Red List (low evidence)
ZNF143
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Combined methylmalonic acidemia and homocystinuria, cblX like 1
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)
ZNF469
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Brittle cornea syndrome MIM#229200
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

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