Description
This panel is used by the Next Generation Children Project, University of Cambridge, to analyze the genome of critically ill children and their parents (French et al, Intensive Care Med, 2019 https://www.ncbi.nlm.nih.gov/pubmed/30847515). It combines genes that cause neurodegenerative disorders (NDD), bleeding & platelet disorders (BPD), primary immune disorders (PID) and  genes from the PanelApp panels related to severe paediatric-onset diseases. 
 
Specifically, the genes were curated using data from :

•	NIHR diagnostic-grade genes for Neurodevelopmental Disorder (NIHR BioResource et al, 2019 https://www.biorxiv.org/content/10.1101/507244v3)

•	Immune Primary Disorders (as of 06/11/2017), based on the NIHR PID gene list (Thaventhiran et al, 2018 https://www.biorxiv.org/content/10.1101/499988v1) and the GRID gene panel (Simeoni et al, 2019 https://www.biorxiv.org/content/10.1101/431544v3)

•	BabySeq project, GroupA genes (Ceyhan-Birsoy et al, Genet Med, 2017 https://pubmed.ncbi.nlm.nih.gov/28079900)

•	PanelApp GREEN genes from the following panels (all downloaded 20190823)
-  Arthrogryposis-broad_panel v1.6 (Super Panel)
-  Bleeding_and_platelet_disorders v0.77
-  Cerebral_malformations v2.68 (Super Panel)
-  Cytopenias_and_congenital_anaemias 1.71
-  Epilepsy-early_onset_or_syndromic v2.551 (Super Panel)
-  Fetal_anomalies v0.339
-  Hereditary_spastic_paraplegia-childhood_onset v1.205
-  Hypotonic_infant_with_a_likely_central_cause v3.781(Super Panel)
-  IUGR_and_IGF_abnormalities v1.29
-  Movement_disorders-childhood_onset v4.321
-  Neonatal_cholestasis v1.4
-  Paediatric_disorders v3.942  (Super Panel)
-  Primary_immunodeficiency v1.54
-  Severe_microcephaly v1.72
-  Unexplained_paediatric_onset_end-stage_renal_disease v0.19
-  White_matter_disorders-childhood_onset v3.1182 (Super Panel)

GREEN indicates genes that are definitely linked to a disorder, AMBER typically denotes those with less than 3 independent families published but that would be reported upon if the phenotype fits perfectly and recommending functional analysis, or additional cases had been recently published (in effect upgrading the gene to GREEN). Genes in RED would not be reported upon, although research work could be performed.  
 
This panel has been established for the Next Generation Children project by Dr Courtney French (University of Cambridge), Dr Karyn Megy (NIHR BioResource – Rare Diseases Study, University of Cambridge), Dr Alba Sanchis-Juan (NIHR BioResource – Rare Diseases Study, University of Cambridge) and Prof Lucy Raymond (University of Cambridge). January 2020.

2 reviewers

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Zornitza Stark (Australian Genomics)

    Group: Other
    Workplace: Other clinical service

2691 Entities

2691 reviewed, 2599 green

List Entity Reviews Mode of inheritance Details
2691 Entitiess
Green Green List (high evidence)
AAAS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Achalasia-addisonianism-alacrimia syndrome, 231550
Tags
Green Green List (high evidence)
AARS
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2N, 613287
  • Epileptic encephalopathy, early infantile, 29, 616339
Tags
  • new-gene-name
Green Green List (high evidence)
AARS2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Leukoencephalopathy, progressive, with ovarian failure, 615889
  • Combined oxidative phosphorylation deficiency 8, 614096
Tags
Green Green List (high evidence)
AASS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Hyperlysinemia, 238700
  • Saccharopinuria, 268700
Tags
Green Green List (high evidence)
ABAT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • GABA-transaminase deficiency, 613163
Tags
Green Green List (high evidence)
ABCA1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • HDL deficiency, familial, 1, 604091
  • Tangier disease, 205400
Tags
Green Green List (high evidence)
ABCA12
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 4B (harlequin), 242500
  • Ichthyosis, congenital, autosomal recessive 4A, 601277
Tags
Green Green List (high evidence)
ABCA3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 3, 610921
Tags
Green Green List (high evidence)
ABCA4
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Retinal dystrophy, early-onset severe, 248200
  • Fundus flavimaculatus, 248200
  • Stargardt disease 1, 248200
  • Cone-rod dystrophy 3, 604116
  • Retinitis pigmentosa 19, 601718
Tags
Green Green List (high evidence)
ABCB11
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cholestasis, progressive familial intrahepatic 2, 601847
  • Cholestasis, benign recurrent intrahepatic, 2, 605479
Tags
Green Green List (high evidence)
ABCB4
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cholestasis, progressive familial intrahepatic 3, 602347
  • Gallbladder disease 1, 600803
  • Cholestasis, intrahepatic, of pregnancy, 3, 614972
Tags
Green Green List (high evidence)
ABCB7
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Anemia, sideroblastic, with ataxia, 301310
Tags
Green Green List (high evidence)
ABCC2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Dubin-Johnson syndrome, 237500
Tags
Green Green List (high evidence)
ABCC6
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Arterial calcification, generalized, of infancy, 2, 614473
  • Pseudoxanthoma elasticum, 264800
  • Pseudoxanthoma elasticum, forme fruste, 177850
Tags
Green Green List (high evidence)
ABCC8
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Diabetes mellitus, transient neonatal 2, 610374
  • Hypoglycemia of infancy, leucine-sensitive, 240800
  • Diabetes mellitus, permanent neonatal, 606176
  • Hyperinsulinemic hypoglycemia, familial, 1, 256450
  • Diabetes mellitus, noninsulin-dependent, 125853
Tags
Green Green List (high evidence)
ABCC9
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cardiomyopathy, dilated, 1O, 608569
  • Hypertrichotic osteochondrodysplasia, 239850
  • Atrial fibrillation, familial, 12, 614050
Tags
Green Green List (high evidence)
ABCD1
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Adrenomyeloneuropathy, adult, 300100
  • Adrenoleukodystrophy, 300100
Tags
Green Green List (high evidence)
ABCD4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblJ type, 614857
Tags
Green Green List (high evidence)
ABCG5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Sitosterolemia, 210250
Tags
Green Green List (high evidence)
ABCG8
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Sitosterolemia, 210250
Tags
Green Green List (high evidence)
ABHD12
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674
Tags
Green Green List (high evidence)
ABHD5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Chanarin-Dorfman syndrome, 275630
Tags
Green Green List (high evidence)
ABL1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Congenital heart defects and skeletal malformations syndrome, 617602
  • Leukemia, Philadelphia chromosome-positive, resistant to imatinib, 608232
Tags
Green Green List (high evidence)
ACAD8
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Isobutyryl-CoA dehydrogenase deficiency, 611283
Tags
Green Green List (high evidence)
ACAD9
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 20, 611126
Tags
Green Green List (high evidence)
ACADM
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450
Tags
Green Green List (high evidence)
ACADS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470
Tags
Green Green List (high evidence)
ACADSB
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • 2-methylbutyrylglycinuria, 610006
Tags
Green Green List (high evidence)
ACADVL
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • VLCAD deficiency, 201475
Tags
Green Green List (high evidence)
ACAN
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Spondyloepimetaphyseal dysplasia, aggrecan type, 612813
  • Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800
  • ?Spondyloepiphyseal dysplasia, Kimberley type, 608361
Tags
Green Green List (high evidence)
ACAT1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Alpha-methylacetoacetic aciduria, 203750
Tags
Green Green List (high evidence)
ACE
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Renal tubular dysgenesis, 267430
Tags
Green Green List (high evidence)
ACO2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Infantile cerebellar-retinal degeneration, 614559
Tags
Green Green List (high evidence)
ACOX1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Peroxisomal acyl-CoA oxidase deficiency, 264470
Tags
Green Green List (high evidence)
ACP5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Spondyloenchondrodysplasia with immune dysregulation, 607944
Tags
Green Green List (high evidence)
ACSF3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Combined malonic and methylmalonic aciduria, 614265
Tags
Green Green List (high evidence)
ACSL4
1 review
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
  • Next Generation Children Project
Phenotypes
  • Mental retardation, X-linked 63, 300387
Tags
Green Green List (high evidence)
ACTA1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Myopathy, actin, congenital, with excess of thin myofilaments, 161800
  • Nemaline myopathy 3, autosomal dominant or recessive, 161800
  • Myopathy, congenital, with fiber-type disproportion 1, 255310
  • Myopathy, actin, congenital, with cores, 161800
Tags
Green Green List (high evidence)
ACTA2
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Multisystemic smooth muscle dysfunction syndrome, 613834
  • Moyamoya disease 5, 614042
  • Aortic aneurysm, familial thoracic 6, 611788
Tags
Green Green List (high evidence)
ACTB
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Baraitser-Winter syndrome 1, 243310
Tags
Green Green List (high evidence)
ACTC1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Left ventricular noncompaction 4, 613424
  • Atrial septal defect 5, 612794
  • Cardiomyopathy, dilated, 1R, 613424
  • Cardiomyopathy, hypertrophic, 11, 612098
Tags
Green Green List (high evidence)
ACTG1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Baraitser-Winter syndrome 2, 614583
  • Deafness, autosomal dominant 20/26, 604717
Tags
Green Green List (high evidence)
ACTG2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Visceral myopathy, 155310
Tags
Green Green List (high evidence)
ACTL6B
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Intellectual developmental disorder with severe speech and ambulation defects, 618470
  • Epileptic encephalopathy, early infantile, 76, 618468
Tags
Green Green List (high evidence)
ACTN1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Bleeding disorder, platelet-type, 15, 615193
Tags
Green Green List (high evidence)
ACTN4
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Glomerulosclerosis, focal segmental, 1, 603278
Tags
Green Green List (high evidence)
ACVR1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Fibrodysplasia ossificans progressiva, 135100
Tags
Green Green List (high evidence)
ACVR2B
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Heterotaxy, visceral, 4, autosomal, 613751
Tags
Green Green List (high evidence)
ACVRL1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 2, 600376
Tags
Green Green List (high evidence)
ACY1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Aminoacylase 1 deficiency, 609924
Tags
Green Green List (high evidence)
ADA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Adenosine deaminase deficiency, partial, 102700
  • Severe combined immunodeficiency due to ADA deficiency, 102700
Tags
Green Green List (high evidence)
ADA2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, 615688
Tags
Green Green List (high evidence)
ADAMTS10
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Weill-Marchesani syndrome 1, recessive, 277600
Tags
Green Green List (high evidence)
ADAMTS13
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Thrombotic thrombocytopenic purpura, familial, 274150
Tags
Green Green List (high evidence)
ADAMTS17
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Weill-Marchesani 4 syndrome, recessive, 613195
Tags
Green Green List (high evidence)
ADAMTSL2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Geleophysic dysplasia 1, 231050
Tags
Green Green List (high evidence)
ADAR
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Aicardi-Goutieres syndrome 6, 615010
  • Dyschromatosis symmetrica hereditaria, 127400
Tags
Green Green List (high evidence)
ADAT3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Mental retardation, autosomal recessive 36, 615286
Tags
Green Green List (high evidence)
ADCY5
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Dyskinesia, familial, with facial myokymia, 606703
Tags
Green Green List (high evidence)
ADD3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cerebral palsy, spastic quadriplegic, 3, 617008
Tags
Green Green List (high evidence)
ADGRG1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Polymicrogyria, bilateral perisylvian, 615752
  • Polymicrogyria, bilateral frontoparietal, 606854
Tags
Green Green List (high evidence)
ADGRG6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Lethal congenital contracture syndrome 9, 616503
Tags
Green Green List (high evidence)
ADGRV1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472
  • Usher syndrome, type 2C, 605472
Tags
Green Green List (high evidence)
ADK
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Hypermethioninemia due to adenosine kinase deficiency, 614300
Tags
Green Green List (high evidence)
ADNP
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Helsmoortel-van der Aa syndrome, 615873
Tags
Green Green List (high evidence)
ADPRHL2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, 618170
Tags
  • new-gene-name
Green Green List (high evidence)
ADSL
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Adenylosuccinase deficiency, 103050
Tags
Green Green List (high evidence)
AFF2
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Mental retardation, X-linked, FRAXE type, 309548
Tags
Green Green List (high evidence)
AFF4
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • CHOPS syndrome, 616368
Tags
Green Green List (high evidence)
AFG3L2
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Spinocerebellar ataxia 28, 610246
  • Spastic ataxia 5, autosomal recessive, 614487
Tags
Green Green List (high evidence)
AGA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Aspartylglucosaminuria, 208400
Tags
Green Green List (high evidence)
AGK
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Sengers syndrome, 212350
  • Cataract 38, autosomal recessive, 614691
Tags
Green Green List (high evidence)
AGL
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Glycogen storage disease IIIb, 232400
  • Glycogen storage disease IIIa, 232400
Tags
Green Green List (high evidence)
AGPS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Rhizomelic chondrodysplasia punctata, type 3, 600121
Tags
Green Green List (high evidence)
AGRN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120
Tags
Green Green List (high evidence)
AGT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Renal tubular dysgenesis, 267430
Tags
Green Green List (high evidence)
AGTR1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Renal tubular dysgenesis, 267430
Tags
Green Green List (high evidence)
AGXT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Hyperoxaluria, primary, type 1, 259900
Tags
Green Green List (high evidence)
AHDC1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Xia-Gibbs syndrome, 615829
Tags
Green Green List (high evidence)
AHI1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Joubert syndrome 3, 608629
Tags
Green Green List (high evidence)
AICDA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Immunodeficiency with hyper-IgM, type 2, 605258
Tags
Green Green List (high evidence)
AIFM1
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Combined oxidative phosphorylation deficiency 6, 300816
  • Cowchock syndrome, 310490
  • Deafness, X-linked 5, 300614
Tags
Green Green List (high evidence)
AIMP1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Leukodystrophy, hypomyelinating, 3, 260600
Tags
Green Green List (high evidence)
AIPL1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cone-rod dystrophy, 604393
  • Leber congenital amaurosis 4, 604393
  • Retinitis pigmentosa, juvenile, 604393
Tags
Green Green List (high evidence)
AIRE
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300
Tags
Green Green List (high evidence)
AK1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Hemolytic anemia due to adenylate kinase deficiency, 612631
Tags
Green Green List (high evidence)
AK2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Reticular dysgenesis, 267500
Tags
Green Green List (high evidence)
AKR1D1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Bile acid synthesis defect, congenital, 2, 235555
Tags
Green Green List (high evidence)
AKT1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cowden syndrome 6, 615109
Tags
Green Green List (high evidence)
AKT3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937
Tags
Green Green List (high evidence)
ALAD
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Porphyria, acute hepatic, 612740
Tags
Green Green List (high evidence)
ALAS2
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Anemia, sideroblastic, 1, 300751
  • Protoporphyria, erythropoietic, X-linked, 300752
Tags
Green Green List (high evidence)
ALB
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Analbuminemia, 616000
  • [Dysalbuminemic hyperthyroxinemia], 615999
Tags
Green Green List (high evidence)
ALDH18A1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cutis laxa, autosomal recessive, type IIIA, 219150
  • Spastic paraplegia 9A, autosomal dominant, 601162
  • Cutis laxa, autosomal dominant 3, 616603
  • Spastic paraplegia 9B, autosomal recessive, 616586
Tags
Green Green List (high evidence)
ALDH1A3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Microphthalmia, isolated 8, 615113
Tags
Green Green List (high evidence)
ALDH3A2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Sjogren-Larsson syndrome, 270200
Tags
Green Green List (high evidence)
ALDH4A1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Hyperprolinemia, type II, 239510
Tags
Green Green List (high evidence)
ALDH5A1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Succinic semialdehyde dehydrogenase deficiency, 271980
Tags
Green Green List (high evidence)
ALDH6A1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Methylmalonate semialdehyde dehydrogenase deficiency, 614105
Tags
Green Green List (high evidence)
ALDH7A1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Epilepsy, pyridoxine-dependent, 266100
Tags
Green Green List (high evidence)
ALDOA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Glycogen storage disease XII, 611881
Tags
Green Green List (high evidence)
ALDOB
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Fructose intolerance, hereditary, 229600
Tags
Green Green List (high evidence)
ALG1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Congenital disorder of glycosylation, type Ik, 608540
Tags
Green Green List (high evidence)
ALG11
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Congenital disorder of glycosylation, type Ip, 613661
Tags
Green Green List (high evidence)
ALG12
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Congenital disorder of glycosylation, type Ig, 607143
Tags
Green Green List (high evidence)
ALG13
1 review
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
  • Next Generation Children Project
Phenotypes
  • Epileptic encephalopathy, early infantile, 36, 300884
Tags
Green Green List (high evidence)
ALG3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Congenital disorder of glycosylation, type Id, 601110
Tags
Green Green List (high evidence)
ALG6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Congenital disorder of glycosylation, type Ic, 603147
Tags
Green Green List (high evidence)
ALG8
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Congenital disorder of glycosylation, type Ih, 608104
  • Polycystic liver disease 3 with or without kidney cysts, 617874
Tags
Green Green List (high evidence)
ALG9
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Congenital disorder of glycosylation, type Il, 608776
  • Gillessen-Kaesbach-Nishimura syndrome, 263210
Tags
Green Green List (high evidence)
ALKBH8
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 71, 618504
Tags
Green Green List (high evidence)
ALMS1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Alstrom syndrome, 203800
Tags
Green Green List (high evidence)
ALOX12B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 2, 242100
Tags
Green Green List (high evidence)
ALOXE3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 3, 606545
Tags
Green Green List (high evidence)
ALPL
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Hypophosphatasia, childhood, 241510
  • Hypophosphatasia, adult, 146300
  • Hypophosphatasia, infantile, 241500
  • Odontohypophosphatasia, 146300
Tags
Green Green List (high evidence)
ALS2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Amyotrophic lateral sclerosis 2, juvenile, 205100
  • Primary lateral sclerosis, juvenile, 606353
  • Spastic paralysis, infantile onset ascending, 607225
Tags
Green Green List (high evidence)
ALX1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • ?Frontonasal dysplasia 3, 613456
Tags
Green Green List (high evidence)
ALX3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Frontonasal dysplasia 1, 136760
Tags
Green Green List (high evidence)
ALX4
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Parietal foramina 2, 609597
  • Frontonasal dysplasia 2, 613451
Tags
Green Green List (high evidence)
AMACR
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Alpha-methylacyl-CoA racemase deficiency, 614307
  • Bile acid synthesis defect, congenital, 4, 214950
Tags
Green Green List (high evidence)
AMELX
1 review
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
  • Next Generation Children Project
Phenotypes
  • Amelogenesis imperfecta, type 1E, 301200
Tags
Green Green List (high evidence)
AMER1
1 review
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
  • Next Generation Children Project
Phenotypes
  • Osteopathia striata with cranial sclerosis, 300373
Tags
Green Green List (high evidence)
AMMECR1
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990
Tags
Green Green List (high evidence)
AMN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Megaloblastic anemia-1, Norwegian type, 261100
Tags
Green Green List (high evidence)
AMPD2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Pontocerebellar hypoplasia, type 9, 615809
  • ?Spastic paraplegia 63, 615686
Tags
Green Green List (high evidence)
AMT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Glycine encephalopathy, 605899
Tags
Green Green List (high evidence)
ANK1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Spherocytosis, type 1, 182900
Tags
Green Green List (high evidence)
ANKH
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Craniometaphyseal dysplasia, 123000
  • Chondrocalcinosis 2, 118600
Tags
Green Green List (high evidence)
ANKRD11
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • KBG syndrome, 148050
Tags
Green Green List (high evidence)
ANKRD26
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Thrombocytopenia 2, 188000
Tags
Green Green List (high evidence)
ANKS6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Nephronophthisis 16, 615382
Tags
Green Green List (high evidence)
ANO10
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 10, 613728
Tags
Green Green List (high evidence)
ANO3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Dystonia 24, 615034
Tags
Green Green List (high evidence)
ANO5
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 12, 611307
  • Miyoshi muscular dystrophy 3, 613319
  • Gnathodiaphyseal dysplasia, 166260
Tags
Green Green List (high evidence)
ANO6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Scott syndrome, 262890
Tags
Green Green List (high evidence)
ANOS1
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), 308700
Tags
Green Green List (high evidence)
ANTXR1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • GAPO syndrome, 230740
Tags
Green Green List (high evidence)
ANTXR2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Hyaline fibromatosis syndrome, 228600
Tags
Green Green List (high evidence)
AP1S1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • MEDNIK syndrome, 609313
Tags
Green Green List (high evidence)
AP1S2
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Mental retardation, X-linked syndromic 5, 304340
Tags
Green Green List (high evidence)
AP2M1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Intellectual developmental disorder 60 with seizures, 618587
Tags
Green Green List (high evidence)
AP3B1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Hermansky-Pudlak syndrome 2, 608233
Tags
Green Green List (high evidence)
AP3B2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Epileptic encephalopathy, early infantile, 48, 617276
Tags
Green Green List (high evidence)
AP3D1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • ?Hermansky-Pudlak syndrome 10, 617050
Tags
Green Green List (high evidence)
AP4B1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Spastic paraplegia 47, autosomal recessive, 614066
Tags
Green Green List (high evidence)
AP4E1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Spastic paraplegia 51, autosomal recessive, 613744
  • Stuttering, familial persistent, 1, 184450
Tags
Green Green List (high evidence)
AP4M1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Spastic paraplegia 50, autosomal recessive, 612936
Tags
Green Green List (high evidence)
AP4S1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Spastic paraplegia 52, autosomal recessive, 614067
Tags
Green Green List (high evidence)
AP5Z1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Spastic paraplegia 48, autosomal recessive, 613647
Tags
Green Green List (high evidence)
APC
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Brain tumor-polyposis syndrome 2, 175100
  • Adenomatous polyposis coli, 175100
  • Desmoid disease, hereditary, 135290
  • Gardner syndrome, 175100
Tags
Green Green List (high evidence)
APOA1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Amyloidosis, 3 or more types, 105200
  • ApoA-I and apoC-III deficiency, combined, 618463
  • Hypoalphalipoproteinemia, primary, 2, with or without corneal clouding, 618463
Tags
Green Green List (high evidence)
APOA5
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Hyperchylomicronemia, late-onset, 144650
Tags
Green Green List (high evidence)
APOB
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Hypobetalipoproteinemia, 615558
  • Hypercholesterolemia, familial, 2, 144010
Tags
Green Green List (high evidence)
APOC2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Hyperlipoproteinemia, type Ib, 207750
Tags
Green Green List (high evidence)
APOE
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Lipoprotein glomerulopathy, 611771
  • Hyperlipoproteinemia, type III, 617347
  • Sea-blue histiocyte disease, 269600
Tags
Green Green List (high evidence)
APOPT1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Mitochondrial complex IV deficiency, 220110
Tags
  • new-gene-name
Green Green List (high evidence)
APRT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Adenine phosphoribosyltransferase deficiency, 614723
Tags
Green Green List (high evidence)
APTX
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920
Tags
Green Green List (high evidence)
AR
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Spinal and bulbar muscular atrophy of Kennedy, 313200
  • Androgen insensitivity, 300068
  • Androgen insensitivity, partial, with or without breast cancer, 312300
  • Hypospadias 1, X-linked, 300633
Tags
Green Green List (high evidence)
ARCN1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164
Tags
Green Green List (high evidence)
ARFGEF2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Periventricular heterotopia with microcephaly, 608097
Tags
Green Green List (high evidence)
ARG1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Argininemia, 207800
Tags
Green Green List (high evidence)
ARHGAP31
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Adams-Oliver syndrome 1, 100300
Tags
Green Green List (high evidence)
ARHGDIA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Nephrotic syndrome, type 8, 615244
Tags
Green Green List (high evidence)
ARHGEF9
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Epileptic encephalopathy, early infantile, 8, 300607
Tags
Green Green List (high evidence)
ARID1A
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Coffin-Siris syndrome 2, 614607
Tags
Green Green List (high evidence)
ARID1B
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Coffin-Siris syndrome 1, 135900
Tags
Green Green List (high evidence)
ARID2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Coffin-Siris syndrome 6, 617808
Tags
Green Green List (high evidence)
ARL13B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Joubert syndrome 8, 612291
Tags
Green Green List (high evidence)
ARL6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Bardet-Biedl syndrome 3, 600151
Tags
Green Green List (high evidence)
ARMC4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Ciliary dyskinesia, primary, 23, 615451
Tags
Green Green List (high evidence)
ARMC9
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Joubert syndrome 30, 617622
Tags
Green Green List (high evidence)
ARPC1B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718
Tags
Green Green List (high evidence)
ARSA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Metachromatic leukodystrophy, 250100
Tags
Green Green List (high evidence)
ARSB
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200
Tags
Green Green List (high evidence)
ARSE
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Chondrodysplasia punctata, X-linked recessive, 302950
Tags
  • new-gene-name
Green Green List (high evidence)
ARV1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Epileptic encephalopathy, early infantile, 38, 617020
Tags
Green Green List (high evidence)
ARX
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Epileptic encephalopathy, early infantile, 1, 308350
  • Partington syndrome, 309510
  • Proud syndrome, 300004
  • Lissencephaly, X-linked 2, 300215
  • Hydranencephaly with abnormal genitalia, 300215
  • Mental retardation, X-linked 29 and others, 300419
Tags
Green Green List (high evidence)
ASAH1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Farber lipogranulomatosis, 228000
  • Spinal muscular atrophy with progressive myoclonic epilepsy, 159950
Tags
Green Green List (high evidence)
ASCC1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Barrett esophagus/esophageal adenocarcinoma, 614266
Tags
Green Green List (high evidence)
ASH1L
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Mental retardation, autosomal dominant 52, 617796
Tags
Green Green List (high evidence)
ASL
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Argininosuccinic aciduria, 207900
Tags
Green Green List (high evidence)
ASNS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Asparagine synthetase deficiency, 615574
Tags
Green Green List (high evidence)
ASPA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Canavan disease, 271900
Tags
Green Green List (high evidence)
ASPM
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Microcephaly 5, primary, autosomal recessive, 608716
Tags
Green Green List (high evidence)
ASS1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Citrullinemia, 215700
Tags
Green Green List (high evidence)
ASXL1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Bohring-Opitz syndrome, 605039
Tags
Green Green List (high evidence)
ASXL2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Shashi-Pena syndrome, 617190
Tags
Green Green List (high evidence)
ASXL3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Bainbridge-Ropers syndrome, 615485
Tags
Green Green List (high evidence)
ATAD1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Hyperekplexia 4, 618011
Tags
Green Green List (high evidence)
ATAD3A
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Harel-Yoon syndrome, 617183
Tags
Green Green List (high evidence)
ATCAY
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Ataxia, cerebellar, Cayman type, 601238
Tags
Green Green List (high evidence)
ATIC
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • AICA-ribosiduria due to ATIC deficiency, 608688
Tags
Green Green List (high evidence)
ATL1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Neuropathy, hereditary sensory, type ID, 613708
  • Spastic paraplegia 3A, autosomal dominant, 182600
Tags
Green Green List (high evidence)
ATM
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Ataxia-telangiectasia, 208900
Tags
Green Green List (high evidence)
ATN1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Dentatorubral-pallidoluysian atrophy, 125370
  • Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, 618494
Tags
Green Green List (high evidence)
ATP13A2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Spastic paraplegia 78, autosomal recessive, 617225
  • Kufor-Rakeb syndrome, 606693
Tags
Green Green List (high evidence)
ATP1A1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2DD, 618036
  • Hypomagnesemia, seizures, and mental retardation 2, 618314
Tags
Green Green List (high evidence)
ATP1A2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Alternating hemiplegia of childhood 1, 104290
  • Migraine, familial basilar, 602481
  • Migraine, familial hemiplegic, 2, 602481
Tags
Green Green List (high evidence)
ATP1A3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Alternating hemiplegia of childhood 2, 614820
  • Dystonia-12, 128235
  • CAPOS syndrome, 601338
Tags
Green Green List (high evidence)
ATP2A1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Brody myopathy, 601003
Tags
Green Green List (high evidence)
ATP5D
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, 618120
Tags
  • new-gene-name
Green Green List (high evidence)
ATP6AP1
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Immunodeficiency 47, 300972
Tags
Green Green List (high evidence)
ATP6AP2
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Mental retardation, X-linked, syndromic, Hedera type, 300423
Tags
Green Green List (high evidence)
ATP6V0A2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cutis laxa, autosomal recessive, type IIA, 219200
  • Wrinkly skin syndrome, 278250
Tags
Green Green List (high evidence)
ATP6V1A
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Epileptic encephalopathy, infantile or early childhood, 3, 618012
  • Cutis laxa, autosomal recessive, type IID, 617403
Tags
Green Green List (high evidence)
ATP6V1B1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Renal tubular acidosis with deafness, 267300
Tags
Green Green List (high evidence)
ATP6V1B2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Zimmermann-Laband syndrome 2, 616455
  • Deafness, congenital, with onychodystrophy, autosomal dominant, 124480
Tags
Green Green List (high evidence)
ATP7A
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Spinal muscular atrophy, distal, X-linked 3, 300489
  • Menkes disease, 309400
  • Occipital horn syndrome, 304150
Tags
Green Green List (high evidence)
ATP7B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Wilson disease, 277900
Tags
Green Green List (high evidence)
ATP8B1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cholestasis, progressive familial intrahepatic 1, 211600
  • Cholestasis, benign recurrent intrahepatic, 243300
Tags
Green Green List (high evidence)
ATR
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Seckel syndrome 1, 210600
Tags
Green Green List (high evidence)
ATRX
1 review
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
  • Next Generation Children Project
Phenotypes
  • Alpha-thalassemia/mental retardation syndrome, 301040
  • Mental retardation-hypotonic facies syndrome, X-linked, 309580
Tags
Green Green List (high evidence)
ATXN1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Spinocerebellar ataxia 1, 164400
Tags
Green Green List (high evidence)
ATXN10
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Spinocerebellar ataxia 10, 603516
Tags
Green Green List (high evidence)
ATXN2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Spinocerebellar ataxia 2, 183090
Tags
Green Green List (high evidence)
ATXN3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Machado-Joseph disease, 109150
Tags
Green Green List (high evidence)
ATXN7
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Spinocerebellar ataxia 7, 164500
Tags
Green Green List (high evidence)
AUH
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • 3-methylglutaconic aciduria, type I, 250950
Tags
Green Green List (high evidence)
AUTS2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Mental retardation, autosomal dominant 26, 615834
Tags
Green Green List (high evidence)
AVPR2
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Nephrogenic syndrome of inappropriate antidiuresis, 300539
  • Diabetes insipidus, nephrogenic, 304800
Tags
Green Green List (high evidence)
B2M
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • ?Amyloidosis, familial visceral
  • Immunodeficiency 43, 241600
Tags
Green Green List (high evidence)
B3GALNT2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, 615181
Tags
Green Green List (high evidence)
B3GALT6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640
  • Ehlers-Danlos syndrome, spondylodysplastic type, 2, 615349
Tags
Green Green List (high evidence)
B3GAT3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, 245600
Tags
Green Green List (high evidence)
B3GLCT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Peters-plus syndrome, 261540
Tags
Green Green List (high evidence)
B4GALNT1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Spastic paraplegia 26, autosomal recessive, 609195
Tags
Green Green List (high evidence)
B4GALT1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Congenital disorder of glycosylation, type IId, 607091
Tags
Green Green List (high evidence)
B4GALT7
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Ehlers-Danlos syndrome, spondylodysplastic type, 1, 130070
Tags
Green Green List (high evidence)
B4GAT1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287
Tags
Green Green List (high evidence)
B9D2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • ?Meckel syndrome 10, 614175
  • Joubert syndrome 34, 614175
Tags
Green Green List (high evidence)
BAAT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Hypercholanemia, familial, 607748
Tags
Green Green List (high evidence)
BACH2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Immunodeficiency 60, 618394
Tags
Green Green List (high evidence)
BAG3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cardiomyopathy, dilated, 1HH, 613881
  • Myopathy, myofibrillar, 6, 612954
Tags
Green Green List (high evidence)
BBS1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Bardet-Biedl syndrome 1, 209900
Tags
Green Green List (high evidence)
BBS10
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Bardet-Biedl syndrome 10, 615987
Tags
Green Green List (high evidence)
BBS12
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Bardet-Biedl syndrome 12, 615989
Tags
Green Green List (high evidence)
BBS2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Bardet-Biedl syndrome 2, 615981
  • Retinitis pigmentosa 74, 616562
Tags
Green Green List (high evidence)
BBS4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Bardet-Biedl syndrome 4, 615982
Tags
Green Green List (high evidence)
BBS5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Bardet-Biedl syndrome 5, 615983
Tags
Green Green List (high evidence)
BBS7
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Bardet-Biedl syndrome 7, 615984
Tags
Green Green List (high evidence)
BBS9
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Bardet-Biedl syndrome 9, 615986
Tags
Green Green List (high evidence)
BCAP31
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Deafness, dystonia, and cerebral hypomyelination, 300475
Tags
Green Green List (high evidence)
BCKDHA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Maple syrup urine disease, type Ia, 248600
Tags
Green Green List (high evidence)
BCKDHB
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Maple syrup urine disease, type Ib, 248600
Tags
Green Green List (high evidence)
BCKDK
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Branched-chain ketoacid dehydrogenase kinase deficiency, 614923
Tags
Green Green List (high evidence)
BCL11A
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Dias-Logan syndrome, 617101
Tags
Green Green List (high evidence)
BCL11B
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, 618092
  • Immunodeficiency 49, 617237
Tags
Green Green List (high evidence)
BCOR
1 review
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
  • Next Generation Children Project
Phenotypes
  • Microphthalmia, syndromic 2, 300166
Tags
Green Green List (high evidence)
BCS1L
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Bjornstad syndrome, 262000
  • GRACILE syndrome, 603358
  • Mitochondrial complex III deficiency, nuclear type 1, 124000
  • Leigh syndrome, 256000
Tags
Green Green List (high evidence)
BEAN1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Spinocerebellar ataxia 31, 117210
Tags
Green Green List (high evidence)
BFSP2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cataract 12, multiple types, 611597
Tags
Green Green List (high evidence)
BGN
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Meester-Loeys syndrome, 300989
  • Spondyloepimetaphyseal dysplasia, X-linked, 300106
Tags
Green Green List (high evidence)
BHLHA9
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432
Tags
Green Green List (high evidence)
BICD2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291
  • Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, 615290
Tags
Green Green List (high evidence)
BIN1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Centronuclear myopathy 2, 255200
Tags
Green Green List (high evidence)
BLM
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Bloom syndrome, 210900
Tags
Green Green List (high evidence)
BLOC1S3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Hermansky-Pudlak syndrome 8, 614077
Tags
Green Green List (high evidence)
BLOC1S6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • ?Hermansky-pudlak syndrome 9, 614171
Tags
Green Green List (high evidence)
BMP1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Osteogenesis imperfecta, type XIII, 614856
Tags
Green Green List (high evidence)
BMP2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877
  • Brachydactyly, type A2, 112600
Tags
Green Green List (high evidence)
BMP4
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Microphthalmia, syndromic 6, 607932
  • Orofacial cleft 11, 600625
Tags
Green Green List (high evidence)
BMPER
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Diaphanospondylodysostosis, 608022
Tags
Green Green List (high evidence)
BMPR1A
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Polyposis syndrome, hereditary mixed, 2, 610069
  • Juvenile polyposis syndrome, infantile form, 174900
  • Polyposis, juvenile intestinal, 174900
Tags
Green Green List (high evidence)
BMPR1B
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Acromesomelic dysplasia, Demirhan type, 609441
  • Brachydactyly, type A2, 112600
  • Brachydactyly, type A1, D, 616849
Tags
Green Green List (high evidence)
BNC2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Lower urinary tract obstruction, congenital, 618612
Tags
Green Green List (high evidence)
BOLA3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, 614299
Tags
Green Green List (high evidence)
BPTF
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, 617755
Tags
Green Green List (high evidence)
BRAF
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cardiofaciocutaneous syndrome, 115150
  • Noonan syndrome 7, 613706
  • LEOPARD syndrome 3, 613707
Tags
Green Green List (high evidence)
BRAT1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Rigidity and multifocal seizure syndrome, lethal neonatal, 614498
  • Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, 618056
Tags
Green Green List (high evidence)
BRCA1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Fanconi anemia, complementation group S, 617883
Tags
Green Green List (high evidence)
BRCA2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Fanconi anemia, complementation group D1, 605724
Tags
Green Green List (high evidence)
BRD4
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cornelia de Lange-like syndrome
Tags
Green Green List (high evidence)
BRF1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cerebellofaciodental syndrome, 616202
Tags
Green Green List (high evidence)
BRIP1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Fanconi anemia, complementation group J, 609054
Tags
Green Green List (high evidence)
BRPF1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Intellectual developmental disorder with dysmorphic facies and ptosis, 617333
Tags
Green Green List (high evidence)
BRSK2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Tags
Green Green List (high evidence)
BRWD3
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Mental retardation, X-linked 93, 300659
Tags
Green Green List (high evidence)
BSCL2
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Encephalopathy, progressive, with or without lipodystrophy, 615924
  • Silver spastic paraplegia syndrome, 270685
  • Lipodystrophy, congenital generalized, type 2, 269700
  • Neuropathy, distal hereditary motor, type VA, 600794
Tags
Green Green List (high evidence)
BSND
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Sensorineural deafness with mild renal dysfunction, 602522
  • Bartter syndrome, type 4a, 602522
Tags
Green Green List (high evidence)
BTD
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Biotinidase deficiency, 253260
Tags
Green Green List (high evidence)
BTK
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Isolated growth hormone deficiency, type III, with agammaglobulinemia, 307200
  • Agammaglobulinemia, X-linked 1, 300755
Tags
Green Green List (high evidence)
BUB1B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Mosaic variegated aneuploidy syndrome 1, 257300
Tags
Green Green List (high evidence)
C11orf70
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Ciliary dyskinesia, primary, 38, 618063
Tags
  • new-gene-name
Green Green List (high evidence)
C12orf4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Mental retardation, autosomal recessive 66, 618221
Tags
Green Green List (high evidence)
C12orf57
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Temtamy syndrome, 218340
Tags
Green Green List (high evidence)
C12orf65
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Spastic paraplegia 55, autosomal recessive, 615035
  • Combined oxidative phosphorylation deficiency 7, 613559
Tags
Green Green List (high evidence)
C15orf41
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Dyserythropoietic anemia, congenital, type Ib, 615631
Tags
Green Green List (high evidence)
C19orf12
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • ?Spastic paraplegia 43, autosomal recessive, 615043
  • Neurodegeneration with brain iron accumulation 4, 614298
Tags
Green Green List (high evidence)
C19orf70
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Combined oxidative phosphorylation deficiency 37, 618329
Tags
  • new-gene-name
Green Green List (high evidence)
C1QA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • C1q deficiency, 613652
Tags
Green Green List (high evidence)
C1QB
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • C1q deficiency, 613652
Tags
Green Green List (high evidence)
C1QBP
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Combined oxidative phosphorylation deficiency 33, 617713
Tags
Green Green List (high evidence)
C1QC
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • C1q deficiency, 613652
Tags
Green Green List (high evidence)
C1R
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Ehlers-Danlos syndrome, periodontal type, 1, 130080
Tags
Green Green List (high evidence)
C1S
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Ehlers-Danlos syndrome, periodontal type, 2, 617174
  • C1s deficiency, 613783
Tags
Green Green List (high evidence)
C2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • C2 deficiency, 217000
Tags
Green Green List (high evidence)
C21orf2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Spondylometaphyseal dysplasia, axial, 602271
  • Retinal dystrophy with macular staphyloma, 617547
Tags
  • new-gene-name
Green Green List (high evidence)
C2CD3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Orofaciodigital syndrome XIV, 615948
Tags
Green Green List (high evidence)
C2orf71
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Retinitis pigmentosa 54, 613428
Tags
  • new-gene-name
Green Green List (high evidence)
C3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • C3 deficiency, 613779
Tags
Green Green List (high evidence)
C4A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • C4a deficiency, 614380
Tags
Green Green List (high evidence)
C4B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • C4B deficiency, 614379
Tags
Green Green List (high evidence)
C4orf26
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Amelogenesis imperfecta, type IIA4, 614832
Tags
  • new-gene-name
Green Green List (high evidence)
C5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • C5 deficiency, 609536
Tags
Green Green List (high evidence)
C5orf42
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Joubert syndrome 17, 614615
  • Orofaciodigital syndrome VI, 277170
Tags
  • new-gene-name
Green Green List (high evidence)
C6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Combined C6/C7 deficiency
  • C6 deficiency, 612446
Tags
Green Green List (high evidence)
C7
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • C7 deficiency, 610102
Tags
Green Green List (high evidence)
C8A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • C8 deficiency, type I, 613790
Tags
Green Green List (high evidence)
C8B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • C8 deficiency, type II, 613789
Tags
Green Green List (high evidence)
C8G
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Complement factor 8 defect
Tags
Green Green List (high evidence)
C8orf37
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cone-rod dystrophy 16, 614500
  • Retinitis pigmentosa 64, 614500
  • Bardet-Biedl syndrome 21, 617406
Tags
Green Green List (high evidence)
C9
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • C9 deficiency, 613825
Tags
Green Green List (high evidence)
C9orf72
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550
Tags
Green Green List (high evidence)
CA2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730
Tags
Green Green List (high evidence)
CA5A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Hyperammonemia due to carbonic anhydrase VA deficiency, 615751
Tags
Green Green List (high evidence)
CA8
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227
Tags
Green Green List (high evidence)
CACNA1A
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Epileptic encephalopathy, early infantile, 42, 617106
  • Spinocerebellar ataxia 6, 183086
  • Migraine, familial hemiplegic, 1, 141500
  • Episodic ataxia, type 2, 108500
  • Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500
Tags
Green Green List (high evidence)
CACNA1B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, 618497
Tags
Green Green List (high evidence)
CACNA1C
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Brugada syndrome 3, 611875
  • Long QT syndrome 8, 618447
  • Timothy syndrome, 601005
Tags
Green Green List (high evidence)
CACNA1D
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Primary aldosteronism, seizures, and neurologic abnormalities, 615474
  • Sinoatrial node dysfunction and deafness, 614896
Tags
Green Green List (high evidence)
CACNA1E
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Epileptic encephalopathy, early infantile, 69, 618285
Tags
Green Green List (high evidence)
CACNA1F
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cone-rod dystrophy, X-linked, 3, 300476
  • Aland Island eye disease, 300600
  • Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071
Tags
Green Green List (high evidence)
CACNA1G
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Spinocerebellar ataxia 42, 616795
  • Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087
Tags
Green Green List (high evidence)
CACNA1S
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Hypokalemic periodic paralysis, type 1, 170400
Tags
Green Green List (high evidence)
CACNB4
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Episodic ataxia, type 5, 613855
Tags
Green Green List (high evidence)
CAD
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Epileptic encephalopathy, early infantile, 50, 616457
Tags
Green Green List (high evidence)
CAMK2A
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Mental retardation, autosomal dominant 53, 617798
Tags
Green Green List (high evidence)
CAMK2B
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Mental retardation, autosomal dominant 54, 617799
Tags
Green Green List (high evidence)
CAMTA1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cerebellar ataxia, nonprogressive, with mental retardation, 614756
Tags
Green Green List (high evidence)
CANT1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Desbuquois dysplasia 1, 251450
  • Epiphyseal dysplasia, multiple, 7, 617719
Tags
Green Green List (high evidence)
CAPN1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Spastic paraplegia 76, autosomal recessive, 616907
Tags
Green Green List (high evidence)
CAPN3
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 1, 253600
  • Muscular dystrophy, limb-girdle, autosomal dominant 4, 618129
Tags
Green Green List (high evidence)
CARD11
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • B-cell expansion with NFKB and T-cell anergy, 616452
  • Immunodeficiency 11A, 615206
  • Immunodeficiency 11B with atopic dermatitis, 617638
Tags
Green Green List (high evidence)
CARD14
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Psoriasis 2, 602723
  • Pityriasis rubra pilaris, 173200
Tags
Green Green List (high evidence)
CARD9
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Candidiasis, familial, 2, autosomal recessive, 212050
Tags
Green Green List (high evidence)
CARMIL2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Immunodeficiency 58, 618131
Tags
Green Green List (high evidence)
CARS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Microcephaly Developmental Delay and Brittle Hair and Nail
Tags
  • new-gene-name
Green Green List (high evidence)
CARS2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Combined oxidative phosphorylation deficiency 27, 616672
Tags
Green Green List (high evidence)
CASK
1 review
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
  • Next Generation Children Project
Phenotypes
  • Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749
  • FG syndrome 4, 300422
  • Mental retardation, with or without nystagmus, 300422
Tags
Green Green List (high evidence)
CASP10
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Autoimmune lymphoproliferative syndrome, type II, 603909
Tags
Green Green List (high evidence)
CASQ1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Myopathy, vacuolar, with CASQ1 aggregates, 616231
Tags
Green Green List (high evidence)
CASQ2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938
Tags
Green Green List (high evidence)
CASR
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Hyperparathyroidism, neonatal, 239200
  • Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198
  • Hypocalciuric hypercalcemia, type I, 145980
  • Hypocalcemia, autosomal dominant, 601198
Tags
Green Green List (high evidence)
CAT
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Acatalasemia, 614097
Tags
Green Green List (high evidence)
CAV3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Myopathy, distal, Tateyama type, 614321
  • Long QT syndrome 9, 611818
  • Creatine phosphokinase, elevated serum, 123320
  • Cardiomyopathy, familial hypertrophic, 192600
  • Rippling muscle disease 2, 606072
Tags
Green Green List (high evidence)
CAVIN1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Lipodystrophy, congenital generalized, type 4, 613327
Tags
Green Green List (high evidence)
CBL
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563
Tags
Green Green List (high evidence)
CBS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Thrombosis, hyperhomocysteinemic, 236200
  • Homocystinuria, B6-responsive and nonresponsive types, 236200
Tags
Green Green List (high evidence)
CC2D1A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Mental retardation, autosomal recessive 3, 608443
Tags
Green Green List (high evidence)
CC2D2A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Meckel syndrome 6, 612284
  • COACH syndrome, 216360
  • Joubert syndrome 9, 612285
Tags
Green Green List (high evidence)
CCBE1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Hennekam lymphangiectasia-lymphedema syndrome 1, 235510
Tags
Green Green List (high evidence)
CCDC103
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Ciliary dyskinesia, primary, 17, 614679
Tags
Green Green List (high evidence)
CCDC114
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Ciliary dyskinesia, primary, 20, 615067
Tags
Green Green List (high evidence)
CCDC115
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Congenital disorder of glycosylation, type IIo, 616828
Tags
Green Green List (high evidence)
CCDC22
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Ritscher-Schinzel syndrome 2, 300963
Tags
Green Green List (high evidence)
CCDC39
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Ciliary dyskinesia, primary, 14, 613807
Tags
Green Green List (high evidence)
CCDC40
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Ciliary dyskinesia, primary, 15, 613808
Tags
Green Green List (high evidence)
CCDC47
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Trichohepatoneurodevelopmental syndrome, 618268
Tags
Green Green List (high evidence)
CCDC65
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Ciliary dyskinesia, primary, 27, 615504
Tags
Green Green List (high evidence)
CCDC8
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • 3-M syndrome 3, 614205
Tags
Green Green List (high evidence)
CCDC88C
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Hydrocephalus, congenital, 1, 236600
  • ?Spinocerebellar ataxia 40
Tags
Green Green List (high evidence)
CCND2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938
Tags
Green Green List (high evidence)
CCNO
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Ciliary dyskinesia, primary, 29, 615872
Tags
Green Green List (high evidence)
CCT5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Neuropathy, hereditary sensory, with spastic paraplegia, 256840
Tags
Green Green List (high evidence)
CD19
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Immunodeficiency, common variable, 3, 613493
Tags
Green Green List (high evidence)
CD247
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Immunodeficiency 25, 610163
Tags
Green Green List (high evidence)
CD27
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Lymphoproliferative syndrome 2, 615122
Tags
Green Green List (high evidence)
CD3D
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Immunodeficiency 19, 615617
Tags
Green Green List (high evidence)
CD3E
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Immunodeficiency 18, SCID variant, 615615
  • Immunodeficiency 18, 615615
Tags
Green Green List (high evidence)
CD3G
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Immunodeficiency 17, CD3 gamma deficient, 615607
Tags
Green Green List (high evidence)
CD40
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Immunodeficiency with hyper-IgM, type 3, 606843
Tags
Green Green List (high evidence)
CD40LG
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Immunodeficiency, X-linked, with hyper-IgM, 308230
Tags
Green Green List (high evidence)
CD55
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, 226300
Tags
Green Green List (high evidence)
CD59
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300
Tags
Green Green List (high evidence)
CD70
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Lymphoproliferative syndrome 3, 618261
Tags
Green Green List (high evidence)
CD79A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Agammaglobulinemia 3, 613501
Tags
Green Green List (high evidence)
CD79B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Agammaglobulinemia 6, 612692
Tags
Green Green List (high evidence)
CD81
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Immunodeficiency, common variable, 6, 613496
Tags
Green Green List (high evidence)
CD8A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • CD8 deficiency, familial, 608957
Tags
Green Green List (high evidence)
CDAN1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Dyserythropoietic anemia, congenital, type Ia, 224120
Tags
Green Green List (high evidence)
CDC42
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Takenouchi-Kosaki syndrome, 616737
Tags
Green Green List (high evidence)
CDC45
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Meier-Gorlin syndrome 7, 617063
Tags
Green Green List (high evidence)
CDCA7
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 3, 616910
Tags
Green Green List (high evidence)
CDH1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Blepharocheilodontic syndrome 1, 119580
Tags
Green Green List (high evidence)
CDH11
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Elsahy-Waters syndrome, 211380
Tags
Green Green List (high evidence)
CDH15
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Mental retardation, autosomal dominant 3, 612580
Tags
Green Green List (high evidence)
CDH23
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Usher syndrome, type 1D, 601067
  • Usher syndrome, type 1D/F digenic, 601067
  • Deafness, autosomal recessive 12, 601386
Tags
Green Green List (high evidence)
CDH3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280
  • Hypotrichosis, congenital, with juvenile macular dystrophy, 601553
Tags
Green Green List (high evidence)
CDK10
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Al Kaissi syndrome, 617694
Tags
Green Green List (high evidence)
CDK13
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360
Tags
Green Green List (high evidence)
CDK5RAP2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Microcephaly 3, primary, autosomal recessive, 604804
Tags
Green Green List (high evidence)
CDK8
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Syndromic Developmental Disorder
Tags
Green Green List (high evidence)
CDKL5
1 review
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
  • Next Generation Children Project
Phenotypes
  • Epileptic encephalopathy, early infantile, 2, 300672
Tags
Green Green List (high evidence)
CDKN1C
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • IMAGE syndrome, 614732
  • Beckwith-Wiedemann syndrome, 130650
Tags
Green Green List (high evidence)
CDON
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Holoprosencephaly 11, 614226
Tags
Green Green List (high evidence)
CDSN
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Peeling skin syndrome 1, 270300
  • Hypotrichosis 2, 146520
Tags
Green Green List (high evidence)
CDT1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Meier-Gorlin syndrome 4, 613804
Tags
Green Green List (high evidence)
CDX1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Anorectal malformation
Tags
Green Green List (high evidence)
CEBPE
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Specific granule deficiency, 245480
Tags
Green Green List (high evidence)
CENPF
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Stromme syndrome, 243605
Tags
Green Green List (high evidence)
CENPJ
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Microcephaly 6, primary, autosomal recessive, 608393
  • ?Seckel syndrome 4, 613676
Tags
Green Green List (high evidence)
CEP104
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Joubert syndrome 25, 616781
Tags
Green Green List (high evidence)
CEP120
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Short-rib thoracic dysplasia 13 with or without polydactyly, 616300
  • Joubert syndrome 31, 617761
Tags
Green Green List (high evidence)
CEP135
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Microcephaly 8, primary, autosomal recessive, 614673
Tags
Green Green List (high evidence)
CEP152
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Microcephaly 9, primary, autosomal recessive, 614852
  • Seckel syndrome 5, 613823
Tags
Green Green List (high evidence)
CEP164
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Nephronophthisis 15, 614845
Tags
Green Green List (high evidence)
CEP290
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Leber congenital amaurosis 10, 611755
  • Senior-Loken syndrome 6, 610189
  • ?Bardet-Biedl syndrome 14, 615991
  • Joubert syndrome 5, 610188
  • Meckel syndrome 4, 611134
Tags
Green Green List (high evidence)
CEP41
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Joubert syndrome 15, 614464
Tags
Green Green List (high evidence)
CEP57
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Mosaic variegated aneuploidy syndrome 2, 614114
Tags
Green Green List (high evidence)
CEP63
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • ?Seckel syndrome 6, 614728
Tags
Green Green List (high evidence)
CEP83
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Nephronophthisis 18, 615862
Tags
Green Green List (high evidence)
CFC1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Heterotaxy, visceral, 2, autosomal, 605376
Tags
Green Green List (high evidence)
CFD
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Complement factor D deficiency, 613912
Tags
Green Green List (high evidence)
CFH
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Basal laminar drusen, 126700
  • Complement factor H deficiency, 609814
Tags
Green Green List (high evidence)
CFHR5
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Nephropathy due to CFHR5 deficiency, 614809
Tags
Green Green List (high evidence)
CFI
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Complement factor I deficiency, 610984
Tags
Green Green List (high evidence)
CFL2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Nemaline myopathy 7, autosomal recessive, 610687
Tags
Green Green List (high evidence)
CFP
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Properdin deficiency, X-linked, 312060
Tags
Green Green List (high evidence)
CFTR
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Congenital bilateral absence of vas deferens, 277180
  • Sweat chloride elevation without CF
Tags
Green Green List (high evidence)
CHAMP1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Mental retardation, autosomal dominant 40, 616579
Tags
Green Green List (high evidence)
CHAT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Myasthenic syndrome, congenital, 6, presynaptic, 254210
Tags
Green Green List (high evidence)
CHCHD10
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • ?Myopathy, isolated mitochondrial, autosomal dominant, 616209
  • Spinal muscular atrophy, Jokela type, 615048
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911
Tags
Green Green List (high evidence)
CHD2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Epileptic encephalopathy, childhood-onset, 615369
Tags
Green Green List (high evidence)
CHD3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Snijders Blok-Campeau syndrome, 618205
Tags
Green Green List (high evidence)
CHD4
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Sifrim-Hitz-Weiss syndrome, 617159
Tags
Green Green List (high evidence)
CHD7
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Hypogonadotropic hypogonadism 5 with or without anosmia, 612370
  • CHARGE syndrome, 214800
Tags
Green Green List (high evidence)
CHD8
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • autism susceptibility
  • Overgrowth with Intellectual disability
Tags
Green Green List (high evidence)
CHKB
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Muscular dystrophy, congenital, megaconial type, 602541
Tags
Green Green List (high evidence)
CHM
1 review
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
  • Next Generation Children Project
Phenotypes
  • Choroideremia, 303100
Tags
Green Green List (high evidence)
CHMP1A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Pontocerebellar hypoplasia, type 8, 614961
Tags
Green Green List (high evidence)
CHMP2B
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Dementia, familial, nonspecific, 600795
  • Amyotrophic lateral sclerosis 17, 614696
Tags
Green Green List (high evidence)
CHRDL1
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Megalocornea 1, X-linked, 309300
Tags
Green Green List (high evidence)
CHRNA1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Multiple pterygium syndrome, lethal type, 253290
  • Myasthenic syndrome, congenital, 1B, fast-channel, 608930
  • Myasthenic syndrome, congenital, 1A, slow-channel, 601462
Tags
Green Green List (high evidence)
CHRNA2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Epilepsy, nocturnal frontal lobe, type 4, 610353
Tags
Green Green List (high evidence)
CHRNA4
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Epilepsy, nocturnal frontal lobe, 1, 600513
Tags
Green Green List (high evidence)
CHRNB1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Myasthenic syndrome, congenital, 2A, slow-channel, 616313
  • ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314
Tags
Green Green List (high evidence)
CHRNB2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Epilepsy, nocturnal frontal lobe, 3, 605375
Tags
Green Green List (high evidence)
CHRND
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321
  • ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323
  • Multiple pterygium syndrome, lethal type, 253290
  • Myasthenic syndrome, congenital, 3B, fast-channel, 616322
Tags
Green Green List (high evidence)
CHRNE
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Myasthenic syndrome, congenital, 4B, fast-channel, 616324
  • Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931
  • Myasthenic syndrome, congenital, 4A, slow-channel, 605809
Tags
Green Green List (high evidence)
CHRNG
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Multiple pterygium syndrome, lethal type, 253290
  • Escobar syndrome, 265000
Tags
Green Green List (high evidence)
CHST14
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Ehlers-Danlos syndrome, musculocontractural type 1, 601776
Tags
Green Green List (high evidence)
CHST3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095
Tags
Green Green List (high evidence)
CHST6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Macular corneal dystrophy, 217800
Tags
Green Green List (high evidence)
CHSY1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Temtamy preaxial brachydactyly syndrome, 605282
Tags
Green Green List (high evidence)
CHUK
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cocoon syndrome, 613630
Tags
Green Green List (high evidence)
CIB2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Usher syndrome, type IJ, 614869
  • Deafness, autosomal recessive 48, 609439
Tags
Green Green List (high evidence)
CIC
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Mental retardation, autosomal dominant 45, 617600
Tags
Green Green List (high evidence)
CIITA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Bare lymphocyte syndrome, type II, complementation group A, 209920
Tags
Green Green List (high evidence)
CISD2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Wolfram syndrome 2, 604928
Tags
Green Green List (high evidence)
CIT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Microcephaly 17, primary, autosomal recessive, 617090
Tags
Green Green List (high evidence)
CKAP2L
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Filippi syndrome, 272440
Tags
Green Green List (high evidence)
CLCN2
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Leukoencephalopathy with ataxia, 615651
  • Hyperaldosteronism, familial, type II, 605635
  • {Epilepsy, juvenile absence, susceptibility to, 2}, 607628
  • {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628
  • {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628
Tags
Green Green List (high evidence)
CLCN4
1 review
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
  • Next Generation Children Project
Phenotypes
  • Raynaud-Claes syndrome, 300114
Tags
Green Green List (high evidence)
CLCN5
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Nephrolithiasis, type I, 310468
  • Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990
  • Hypophosphatemic rickets, 300554
  • Dent disease, 300009
Tags
Green Green List (high evidence)
CLCN7
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Osteopetrosis, autosomal dominant 2, 166600
  • Hypopigmentation, organomegaly, and delayed myelination and development, 618541
  • Osteopetrosis, autosomal recessive 4, 611490
Tags
Green Green List (high evidence)
CLDN1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626
Tags
Green Green List (high evidence)
CLDN14
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Deafness, autosomal recessive 29, 614035
Tags
Green Green List (high evidence)
CLDN16
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Hypomagnesemia 3, renal, 248250
Tags
Green Green List (high evidence)
CLDN19
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Hypomagnesemia 5, renal, with ocular involvement, 248190
Tags
Green Green List (high evidence)
CLN3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 3, 204200
Tags
Green Green List (high evidence)
CLN5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 5, 256731
Tags
Green Green List (high evidence)
CLN6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300
  • Ceroid lipofuscinosis, neuronal, 6, 601780
Tags
Green Green List (high evidence)
CLN8
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003
  • Ceroid lipofuscinosis, neuronal, 8, 600143
Tags
Green Green List (high evidence)
CLP1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Pontocerebellar hypoplasia, type 10, 615803
Tags
Green Green List (high evidence)
CLPB
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271
Tags
Green Green List (high evidence)
CLPP
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Perrault syndrome 3, 614129
Tags
Green Green List (high evidence)
CLRN1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Usher syndrome, type 3A, 276902
  • Retinitis pigmentosa 61, 614180
Tags
Green Green List (high evidence)
CLTC
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Mental retardation, autosomal dominant 56, 617854
Tags
Green Green List (high evidence)
CNBP
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Myotonic dystrophy 2, 602668
Tags
Green Green List (high evidence)
CNGB3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Achromatopsia 3, 262300
  • Macular degeneration, juvenile, 248200
Tags
Green Green List (high evidence)
CNKSR2
1 review
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
  • Next Generation Children Project
Phenotypes
  • Mental retardation, X-linked, syndromic, Houge type, 301008
Tags
Green Green List (high evidence)
CNNM2
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Hypomagnesemia, seizures, and mental retardation, 616418
  • Hypomagnesemia 6, renal, 613882
Tags
Green Green List (high evidence)
CNOT1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Holoprosencephaly 12, with or without pancreatic agenesis, 618500
Tags
Green Green List (high evidence)
CNOT3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • CNOT3 syndrome
Tags
Green Green List (high evidence)
CNPY3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Epileptic encephalopathy, early infantile, 60, 617929
Tags
Green Green List (high evidence)
CNTNAP1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Lethal congenital contracture syndrome 7, 616286
  • Hypomyelinating neuropathy, congenital, 3, 618186
Tags
Green Green List (high evidence)
CNTNAP2
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cortical dysplasia-focal epilepsy syndrome, 610042
  • Pitt-Hopkins like syndrome 1, 610042
  • {Autism susceptibility 15}, 612100
Tags
Green Green List (high evidence)
COA6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4, 616501
Tags
Green Green List (high evidence)
COA7
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387
Tags
Green Green List (high evidence)
COASY
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Neurodegeneration with brain iron accumulation 6, 615643
  • Pontocerebellar hypoplasia, type 12, 618266
Tags
Green Green List (high evidence)
COCH
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Deafness
Tags
Green Green List (high evidence)
COG1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Congenital disorder of glycosylation, type IIg, 611209
Tags
Green Green List (high evidence)
COG4
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Congenital disorder of glycosylation, type IIj, 613489
  • Saul-Wilson syndrome, 618150
Tags
Green Green List (high evidence)
COG5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Congenital disorder of glycosylation, type IIi, 613612
Tags
Green Green List (high evidence)
COG6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Shaheen syndrome, 615328
  • Congenital disorder of glycosylation, type IIl, 614576
Tags
Green Green List (high evidence)
COG7
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Congenital disorder of glycosylation, type IIe, 608779
Tags
Green Green List (high evidence)
COG8
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Congenital disorder of glycosylation, type IIh, 611182
Tags
Green Green List (high evidence)
COL10A1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Metaphyseal chondrodysplasia, Schmid type, 156500
Tags
Green Green List (high evidence)
COL11A1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Fibrochondrogenesis 1, 228520
  • ?Deafness, autosomal dominant 37, 618533
  • Stickler syndrome, type II, 604841
  • Marshall syndrome, 154780
Tags
Green Green List (high evidence)
COL11A2
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Fibrochondrogenesis 2, 614524
  • Deafness, autosomal dominant 13, 601868
  • Otospondylomegaepiphyseal dysplasia, autosomal dominant, 184840
  • Deafness, autosomal recessive 53, 609706
  • Otospondylomegaepiphyseal dysplasia, autosomal recessive, 215150
Tags
Green Green List (high evidence)
COL12A1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • ?Ullrich congenital muscular dystrophy 2, 616470
  • Bethlem myopathy 2, 616471
Tags
Green Green List (high evidence)
COL13A1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Myasthenic syndrome, congenital, 19, 616720
Tags
Green Green List (high evidence)
COL17A1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Epidermolysis bullosa, junctional, localisata variant, 226650
  • Epithelial recurrent erosion dystrophy, 122400
  • Epidermolysis bullosa, junctional, non-Herlitz type, 226650
Tags
Green Green List (high evidence)
COL18A1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Knobloch syndrome, type 1, 267750
Tags
Green Green List (high evidence)
COL1A1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Ehlers-Danlos syndrome, arthrochalasia type, 1, 130060
  • Osteogenesis imperfecta, type I, 166200
  • Osteogenesis imperfecta, type III, 259420
  • Caffey disease, 114000
  • Osteogenesis imperfecta, type II, 166210
  • Osteogenesis imperfecta, type IV, 166220
Tags
Green Green List (high evidence)
COL1A2
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Osteogenesis imperfecta, type III, 259420
  • Ehlers-Danlos syndrome, cardiac valvular type, 225320
  • Osteogenesis imperfecta, type II, 166210
  • Ehlers-Danlos syndrome, arthrochalasia type, 2, 617821
  • Osteogenesis imperfecta, type IV, 166220
Tags
Green Green List (high evidence)
COL2A1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Achondrogenesis, type II or hypochondrogenesis, 200610
  • Spondyloperipheral dysplasia, 271700
  • SMED Strudwick type, 184250
  • Stickler sydrome, type I, nonsyndromic ocular, 609508
  • Vitreoretinopathy with phalangeal epiphyseal dysplasia
  • Kniest dysplasia, 156550
  • SED congenita, 183900
  • Czech dysplasia, 609162
  • Platyspondylic skeletal dysplasia, Torrance type, 151210
  • Epiphyseal dysplasia, multiple, with myopia and deafness, 132450
  • Spondyloepiphyseal dysplasia, Stanescu type, 616583
  • Osteoarthritis with mild chondrodysplasia, 604864
  • Legg-Calve-Perthes disease, 150600
  • Stickler syndrome, type I, 108300
  • Avascular necrosis of the femoral head, 608805
Tags
Green Green List (high evidence)
COL3A1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Polymicrogyria with or without vascular-type EDS, 618343
  • Ehlers-Danlos syndrome, vascular type, 130050
Tags
Green Green List (high evidence)
COL4A1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773
  • Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, 618564
  • Brain small vessel disease with or without ocular anomalies, 175780
  • ?Retinal arteries, tortuosity of, 180000
Tags
Green Green List (high evidence)
COL4A2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Brain small vessel disease 2, 614483
Tags
Green Green List (high evidence)
COL4A3
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Alport syndrome 2, autosomal recessive, 203780
  • Alport syndrome 3, autosomal dominant, 104200
  • Hematuria, benign familial, 141200
Tags
Green Green List (high evidence)
COL4A3BP
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Mental retardation, autosomal dominant 34, 616351
Tags
  • new-gene-name
Green Green List (high evidence)
COL4A4
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Hematuria, familial benign, 141200
  • Alport syndrome 2, autosomal recessive, 203780
Tags
Green Green List (high evidence)
COL4A5
1 review
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
  • Next Generation Children Project
Phenotypes
  • Alport syndrome 1, X-linked, 301050
Tags
Green Green List (high evidence)
COL5A1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Ehlers-Danlos syndrome, classic type, 1, 130000
Tags
Green Green List (high evidence)
COL5A2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Ehlers-Danlos syndrome, classic type, 2, 130010
Tags
Green Green List (high evidence)
COL6A1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Bethlem myopathy 1, 158810
  • Ullrich congenital muscular dystrophy 1, 254090
Tags
Green Green List (high evidence)
COL6A2
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Bethlem myopathy 1, 158810
  • ?Myosclerosis, congenital, 255600
  • Ullrich congenital muscular dystrophy 1, 254090
Tags
Green Green List (high evidence)
COL6A3
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Bethlem myopathy 1, 158810
  • Ullrich congenital muscular dystrophy 1, 254090
  • Dystonia 27, 616411
Tags
Green Green List (high evidence)
COL7A1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Epidermolysis bullosa dystrophica, AD, 131750
  • EBD inversa, 226600
  • EBD, localisata variant
  • Epidermolysis bullosa pruriginosa, 604129
  • Toenail dystrophy, isolated, 607523
  • Epidermolysis bullosa dystrophica, AR, 226600
  • Epidermolysis bullosa, pretibial, 131850
  • Transient bullous of the newborn, 131705
  • EBD, Bart type, 132000
Tags
Green Green List (high evidence)
COL9A1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Stickler syndrome, type IV, 614134
  • ?Epiphyseal dysplasia, multiple, 6, 614135
Tags
Green Green List (high evidence)
COL9A2
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • ?Stickler syndrome, type V, 614284
  • Epiphyseal dysplasia, multiple, 2, 600204
Tags
Green Green List (high evidence)
COL9A3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Epiphyseal dysplasia, multiple, 3, with or without myopathy, 600969
Tags
Green Green List (high evidence)
COLEC10
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • 3MC syndrome 3, 248340
Tags
Green Green List (high evidence)
COLEC11
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • 3MC syndrome 2, 265050
Tags
Green Green List (high evidence)
COLQ
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Myasthenic syndrome, congenital, 5, 603034
Tags
Green Green List (high evidence)
COMP
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Pseudoachondroplasia, 177170
  • Epiphyseal dysplasia, multiple, 1, 132400
Tags
Green Green List (high evidence)
COPA
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • {Autoimmune interstitial lung, joint, and kidney disease}, 616414
Tags
Green Green List (high evidence)
COQ2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Coenzyme Q10 deficiency, primary, 1, 607426
Tags
Green Green List (high evidence)
COQ4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Coenzyme Q10 deficiency, primary, 7, 616276
Tags
Green Green List (high evidence)
COQ6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Coenzyme Q10 deficiency, primary, 6, 614650
Tags
Green Green List (high evidence)
COQ8A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Coenzyme Q10 deficiency, primary, 4, 612016
Tags
Green Green List (high evidence)
COQ8B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Nephrotic syndrome, type 9, 615573
Tags
Green Green List (high evidence)
COQ9
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Coenzyme Q10 deficiency, primary, 5, 614654
Tags
Green Green List (high evidence)
CORO1A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Immunodeficiency 8, 615401
Tags
Green Green List (high evidence)
COX10
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Leigh syndrome due to mitochondrial COX4 deficiency, 256000
  • Mitochondrial complex IV deficiency, 220110
Tags
Green Green List (high evidence)
COX15
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119
  • Leigh syndrome due to cytochrome c oxidase deficiency, 256000
Tags
Green Green List (high evidence)
COX20
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Mitochondrial complex IV deficiency, 220110
Tags
Green Green List (high evidence)
COX6A1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Charcot-Marie-Tooth disease, recessive intermediate D, 616039
Tags
Green Green List (high evidence)
COX6B1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Mitochondrial complex IV deficiency, 220110
Tags
Green Green List (high evidence)
COX7B
1 review
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
  • Next Generation Children Project
Phenotypes
  • Linear skin defects with multiple congenital anomalies 2, 300887
Tags
Green Green List (high evidence)
CP
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Hemosiderosis, systemic, due to aceruloplasminemia, 604290
  • Cerebellar ataxia, 604290
Tags
Green Green List (high evidence)
CPA6
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Epilepsy, familial temporal lobe, 5, 614417
  • Febrile seizures, familial, 11, 614418
Tags
Green Green List (high evidence)
CPOX
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Harderoporphyria, 121300
  • Coproporphyria, 121300
Tags
Green Green List (high evidence)
CPS1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Carbamoylphosphate synthetase I deficiency, 237300
Tags
Green Green List (high evidence)
CPT1A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • CPT deficiency, hepatic, type IA, 255120
Tags
Green Green List (high evidence)
CPT2
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • CPT II deficiency, myopathic, stress-induced, 255110
  • CPT II deficiency, infantile, 600649
  • CPT II deficiency, lethal neonatal, 608836
Tags
Green Green List (high evidence)
CR2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Immunodeficiency, common variable, 7, 614699
Tags
Green Green List (high evidence)
CRADD
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Mental retardation, autosomal recessive 34, with variant lissencephaly, 614499
Tags
Green Green List (high evidence)
CRB1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Leber congenital amaurosis 8, 613835
  • Pigmented paravenous chorioretinal atrophy, 172870
  • Retinitis pigmentosa-12, 600105
Tags
Green Green List (high evidence)
CRB2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Focal segmental glomerulosclerosis 9, 616220
  • Ventriculomegaly with cystic kidney disease, 219730
Tags
Green Green List (high evidence)
CREBBP
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Rubinstein-Taybi syndrome 1, 180849
  • Menke-Hennekam syndrome 1, 618332
Tags
Green Green List (high evidence)
CRIPT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Short stature with microcephaly and distinctive facies, 615789
Tags
Green Green List (high evidence)
CRLF1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cold-induced sweating syndrome 1, 272430
Tags
Green Green List (high evidence)
CRTAP
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Osteogenesis imperfecta, type VII, 610682
Tags
Green Green List (high evidence)
CRX
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cone-rod retinal dystrophy-2, 120970
  • Leber congenital amaurosis 7, 613829
Tags
Green Green List (high evidence)
CRYAA
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cataract 9, multiple types, 604219
Tags
Green Green List (high evidence)
CRYAB
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cataract 16, multiple types, 613763
  • Myopathy, myofibrillar, 2, 608810
  • Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, 613869
  • Cardiomyopathy, dilated, 1II, 615184
Tags
Green Green List (high evidence)
CRYBA1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cataract 10, multiple types, 600881
Tags
Green Green List (high evidence)
CRYBA4
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cataract 23, 610425
Tags
Green Green List (high evidence)
CRYBB1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cataract 17, multiple types, 611544
Tags
Green Green List (high evidence)
CRYBB2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cataract 3, multiple types, 601547
Tags
Green Green List (high evidence)
CRYBB3
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cataract 22, 609741
Tags
Green Green List (high evidence)
CRYGC
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cataract 2, multiple types, 604307
Tags
Green Green List (high evidence)
CRYGD
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cataract 4, multiple types, 115700
Tags
Green Green List (high evidence)
CSF1R
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Leukoencephalopathy, diffuse hereditary, with spheroids, 221820
  • Brain abnormalities, neurodegeneration, and dysosteosclerosis, 618476
Tags
Green Green List (high evidence)
CSF2RA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 4, 300770
Tags
Green Green List (high evidence)
CSF2RB
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 5, 614370
Tags
Green Green List (high evidence)
CSF3R
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Neutropenia, severe congenital, 7, autosomal recessive, 617014
Tags
Green Green List (high evidence)
CSNK2A1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Okur-Chung neurodevelopmental syndrome, 617062
Tags
Green Green List (high evidence)
CSNK2B
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Intellectual disability with or without myoclonic epilepsy.
Tags
Green Green List (high evidence)
CSPP1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Joubert syndrome 21, 615636
Tags
Green Green List (high evidence)
CSTB
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800
Tags
Green Green List (high evidence)
CTBP1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915
Tags
Green Green List (high evidence)
CTC1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cerebroretinal microangiopathy with calcifications and cysts, 612199
Tags
Green Green List (high evidence)
CTCF
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Mental retardation, autosomal dominant 21, 615502
Tags
Green Green List (high evidence)
CTDP1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Congenital cataracts, facial dysmorphism, and neuropathy, 604168
Tags
Green Green List (high evidence)
CTH
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Homocysteine, total plasma, elevated
  • Cystathioninuria, 219500
Tags
Green Green List (high evidence)
CTLA4
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Autoimmune lymphoproliferative syndrome, type V, 616100
Tags
Green Green List (high evidence)
CTNNA2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 9, 618174
Tags
Green Green List (high evidence)
CTNNB1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Exudative vitreoretinopathy 7, 617572
  • Neurodevelopmental disorder with spastic diplegia and visual defects, 615075
Tags
Green Green List (high evidence)
CTNND1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Blepharocheilodontic syndrome 2, 617681
Tags
Green Green List (high evidence)
CTNS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cystinosis, atypical nephropathic, 219800
  • Cystinosis, late-onset juvenile or adolescent nephropathic, 219900
  • Cystinosis, ocular nonnephropathic, 219750
  • Cystinosis, nephropathic, 219800
Tags
Green Green List (high evidence)
CTPS1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Immunodeficiency 24, 615897
Tags
Green Green List (high evidence)
CTSA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Galactosialidosis, 256540
Tags
Green Green List (high evidence)
CTSC
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Papillon-Lefevre syndrome, 245000
  • Periodontitis 1, juvenile, 170650
  • Haim-Munk syndrome, 245010
Tags
Green Green List (high evidence)
CTSD
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 10, 610127
Tags
Green Green List (high evidence)
CTSF
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362
Tags
Green Green List (high evidence)
CTSK
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Pycnodysostosis, 265800
Tags
Green Green List (high evidence)
CUBN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Megaloblastic anemia-1, Finnish type, 261100
Tags
Green Green List (high evidence)
CUL4B
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354
Tags
Green Green List (high evidence)
CUL7
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • 3-M syndrome 1, 273750
Tags
Green Green List (high evidence)
CUX1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Global developmental delay with or without impaired intellectual development, 618330
Tags
Green Green List (high evidence)
CUX2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Epileptic encephalopathy, early infantile, 67, 618141
Tags
Green Green List (high evidence)
CWC27
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Retinitis pigmentosa with or without skeletal anomalies, 250410
Tags
Green Green List (high evidence)
CWF19L1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 17, 616127
Tags
Green Green List (high evidence)
CXCR4
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Myelokathexis, isolated
  • WHIM syndrome, 193670
Tags
Green Green List (high evidence)
CYB5R3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Methemoglobinemia, type I, 250800
  • Methemoglobinemia, type II, 250800
Tags
Green Green List (high evidence)
CYBA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690
Tags
Green Green List (high evidence)
CYBB
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Immunodeficiency 34, mycobacteriosis, X-linked, 300645
  • Chronic granulomatous disease, X-linked, 306400
Tags
Green Green List (high evidence)
CYC1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 6, 615453
Tags
Green Green List (high evidence)
CYCS
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Thrombocytopenia 4, 612004
Tags
Green Green List (high evidence)
CYFIP2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Epileptic encephalopathy, early infantile, 65, 618008
Tags
Green Green List (high evidence)
CYP11A1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743
Tags
Green Green List (high evidence)
CYP11B1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Aldosteronism, glucocorticoid-remediable, 103900
  • Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010
Tags
Green Green List (high evidence)
CYP17A1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • 17-alpha-hydroxylase/17,20-lyase deficiency, 202110
  • 17,20-lyase deficiency, isolated, 202110
Tags
Green Green List (high evidence)
CYP1B1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300
  • Anterior segment dysgenesis 6, multiple subtypes, 617315
Tags
Green Green List (high evidence)
CYP21A2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910
  • Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910
Tags
Green Green List (high evidence)
CYP27A1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cerebrotendinous xanthomatosis, 213700
Tags
Green Green List (high evidence)
CYP27B1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Vitamin D-dependent rickets, type I, 264700
Tags
Green Green List (high evidence)
CYP2U1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Spastic paraplegia 56, autosomal recessive, 615030
Tags
Green Green List (high evidence)
CYP4F22
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 5, 604777
Tags
Green Green List (high evidence)
CYP7B1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Spastic paraplegia 5A, autosomal recessive, 270800
  • Bile acid synthesis defect, congenital, 3, 613812
Tags
Green Green List (high evidence)
D2HGDH
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • D-2-hydroxyglutaric aciduria, 600721
Tags
Green Green List (high evidence)
DAB1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Spinocerebellar ataxia 37, 615945
Tags
Green Green List (high evidence)
DAG1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, 616538
Tags
Green Green List (high evidence)
DARS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281
Tags
  • new-gene-name
Green Green List (high evidence)
DARS2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
Tags
Green Green List (high evidence)
DBH
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Orthostatic hypotension 1, due to DBH deficiency, 223360
Tags
Green Green List (high evidence)
DBT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Maple syrup urine disease, type II, 248600
Tags
Green Green List (high evidence)
DCAF17
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Woodhouse-Sakati syndrome, 241080
Tags
Green Green List (high evidence)
DCC
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Mirror movements 1 and/or agenesis of the corpus callosum, 157600
  • Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542
Tags
Green Green List (high evidence)
DCDC2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • ?Deafness, autosomal recessive 66, 610212
  • Sclerosing cholangitis, neonatal, 617394
  • Nephronophthisis 19, 616217
Tags
Green Green List (high evidence)
DCHS1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Van Maldergem syndrome 1, 601390
  • Mitral valve prolapse 2, 607829
Tags
Green Green List (high evidence)
DCLRE1B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • HoyeraalHreidarsson syndrome
Tags
Green Green List (high evidence)
DCLRE1C
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Omenn syndrome, 603554
  • Severe combined immunodeficiency, Athabascan type, 602450
Tags
Green Green List (high evidence)
DCPS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Al-Raqad syndrome, 616459
Tags
Green Green List (high evidence)
DCTN1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Perry syndrome, 168605
  • Neuropathy, distal hereditary motor, type VIIB, 607641
Tags
Green Green List (high evidence)
DCX
1 review
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
  • Next Generation Children Project
Phenotypes
  • Subcortical laminal heterotopia, X-linked, 300067
  • Lissencephaly, X-linked, 300067
Tags
Green Green List (high evidence)
DDB2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Xeroderma pigmentosum, group E, DDB-negative subtype, 278740
Tags
Green Green List (high evidence)
DDC
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Aromatic L-amino acid decarboxylase deficiency, 608643
Tags
Green Green List (high evidence)
DDHD1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Spastic paraplegia 28, autosomal recessive, 609340
Tags
Green Green List (high evidence)
DDHD2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Spastic paraplegia 54, autosomal recessive, 615033
Tags
Green Green List (high evidence)
DDR2
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Warburg-Cinotti syndrome, 618175
  • Spondylometaepiphyseal dysplasia, short limb-hand type, 271665
Tags
Green Green List (high evidence)
DDX11
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Warsaw breakage syndrome, 613398
Tags
Green Green List (high evidence)
DDX3X
1 review
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
  • Next Generation Children Project
Phenotypes
  • Mental retardation, X-linked 102, 300958
Tags
Green Green List (high evidence)
DDX59
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Orofaciodigital syndrome V, 174300
Tags
Green Green List (high evidence)
DEAF1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • ?Dyskinesia, seizures, and intellectual developmental disorder, 617171
  • Mental retardation, autosomal dominant 24, 615828
Tags
Green Green List (high evidence)
DEGS1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Leukodystrophy, hypomyelinating, 18, 618404
Tags
Green Green List (high evidence)
DENND5A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Epileptic encephalopathy, early infantile, 49, 617281
Tags
Green Green List (high evidence)
DEPDC5
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Epilepsy, familial focal, with variable foci 1, 604364
Tags
Green Green List (high evidence)
DES
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Myopathy, myofibrillar, 1, 601419
  • Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400
  • Cardiomyopathy, dilated, 1I, 604765
Tags
Green Green List (high evidence)
DFNA5
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Deafness, autosomal dominant 5, 600994
Tags
  • new-gene-name
Green Green List (high evidence)
DFNB59
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Deafness, autosomal recessive 59, 610220
Tags
  • new-gene-name
Green Green List (high evidence)
DGKE
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Nephrotic syndrome, type 7, 615008
Tags
Green Green List (high evidence)
DGUOK
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070
  • Portal hypertension, noncirrhotic, 617068
Tags
Green Green List (high evidence)
DHCR24
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Desmosterolosis, 602398
Tags
Green Green List (high evidence)
DHCR7
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Smith-Lemli-Opitz syndrome, 270400
Tags
Green Green List (high evidence)
DHDDS
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • ?Congenital disorder of glycosylation, type 1bb, 613861
  • Developmental delay and seizures with or without movement abnormalities, 617836
  • Retinitis pigmentosa 59, 613861
Tags
Green Green List (high evidence)
DHFR
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839
Tags
Green Green List (high evidence)
DHODH
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Miller syndrome, 263750
Tags
Green Green List (high evidence)
DHPS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Neurodevelopmental disorder with seizures and speech and walking impairment, 618480
Tags
Green Green List (high evidence)
DHTKD1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • 2-aminoadipic 2-oxoadipic aciduria, 204750
  • ?Charcot-Marie-Tooth disease, axonal, type 2Q, 615025
Tags
Green Green List (high evidence)
DHX30
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Neurodevelopmental disorder with severe motor impairment and absent language, 617804
Tags
Green Green List (high evidence)
DIAPH1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Deafness, autosomal dominant 1, 124900
  • Seizures, cortical blindness, microcephaly syndrome, 616632
Tags
Green Green List (high evidence)
DIS3L2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Perlman syndrome, 267000
Tags
Green Green List (high evidence)
DISP1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Holoprosencephaly
Tags
Green Green List (high evidence)
DKC1
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Dyskeratosis congenita, X-linked, 305000
Tags
Green Green List (high evidence)
DLAT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Pyruvate dehydrogenase E2 deficiency, 245348
Tags
Green Green List (high evidence)
DLD
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Dihydrolipoamide dehydrogenase deficiency, 246900
Tags
Green Green List (high evidence)
DLG3
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Mental retardation, X-linked 90, 300850
Tags
Green Green List (high evidence)
DLG4
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Intellectual disability with marfanoid features
Tags
Green Green List (high evidence)
DLL3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Spondylocostal dysostosis 1, autosomal recessive, 277300
Tags
Green Green List (high evidence)
DLL4
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Adams-Oliver syndrome 6, 616589
Tags
Green Green List (high evidence)
DLX3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Trichodontoosseous syndrome, 190320
  • Amelogenesis imperfecta, type IV, 104510
Tags
Green Green List (high evidence)
DLX5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • ?Split-hand/foot malformation 1 with sensorineural hearing loss, 220600
Tags
Green Green List (high evidence)
DMD
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Becker muscular dystrophy, 300376
  • Cardiomyopathy, dilated, 3B, 302045
  • Duchenne muscular dystrophy, 310200
Tags
Green Green List (high evidence)
DMP1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Hypophosphatemic rickets, AR, 241520
Tags
Green Green List (high evidence)
DMPK
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Myotonic dystrophy 1, 160900
Tags
Green Green List (high evidence)
DNA2
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • ?Seckel syndrome 8, 615807
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156
Tags
Green Green List (high evidence)
DNAAF1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Ciliary dyskinesia, primary, 13, 613193
Tags
Green Green List (high evidence)
DNAAF3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Ciliary dyskinesia, primary, 2, 606763
Tags
Green Green List (high evidence)
DNAAF4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Ciliary dyskinesia, primary, 25, 615482
Tags
Green Green List (high evidence)
DNAH11
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884
Tags
Green Green List (high evidence)
DNAH5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644
Tags
Green Green List (high evidence)
DNAH9
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Ciliary dyskinesia, primary, 40, 618300
Tags
Green Green List (high evidence)
DNAI1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400
Tags
Green Green List (high evidence)
DNAJB11
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Polycystic kidney disease 6 with or without polycystic liver disease, 618061
Tags
Green Green List (high evidence)
DNAJB6
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal dominant 1, 603511
Tags
Green Green List (high evidence)
DNAJC12
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Hyperphenylalaninemia, mild, non-BH4-deficient, 617384
Tags
Green Green List (high evidence)
DNAJC19
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • 3-methylglutaconic aciduria, type V, 610198
Tags
Green Green List (high evidence)
DNAJC21
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Bone marrow failure syndrome 3, 617052
Tags
Green Green List (high evidence)
DNAJC5
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350
Tags
Green Green List (high evidence)
DNASE2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Rheumatoid arthritis
Tags
Green Green List (high evidence)
DNM1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Epileptic encephalopathy, early infantile, 31, 616346
Tags
Green Green List (high evidence)
DNM1L
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Optic atrophy 5, 610708
  • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388
Tags
Green Green List (high evidence)
DNM2
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Lethal congenital contracture syndrome 5, 615368
  • Charcot-Marie-Tooth disease, dominant intermediate B, 606482
  • Charcot-Marie-Tooth disease, axonal type 2M, 606482
  • Centronuclear myopathy 1, 160150
Tags
Green Green List (high evidence)
DNMT1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121
  • Neuropathy, hereditary sensory, type IE, 614116
Tags
Green Green List (high evidence)
DNMT3A
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Tatton-Brown-Rahman syndrome, 615879
Tags
Green Green List (high evidence)
DNMT3B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860
Tags
Green Green List (high evidence)
DOCK2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Immunodeficiency 40, 616433
Tags
Green Green List (high evidence)
DOCK3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, 618292
Tags
Green Green List (high evidence)
DOCK6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Adams-Oliver syndrome 2, 614219
Tags
Green Green List (high evidence)
DOCK7
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Epileptic encephalopathy, early infantile, 23, 615859
Tags
Green Green List (high evidence)
DOCK8
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700
Tags
Green Green List (high evidence)
DOK7
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • ?Fetal akinesia deformation sequence 3, 618389
  • Myasthenic syndrome, congenital, 10, 254300
Tags
Green Green List (high evidence)
DOLK
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Congenital disorder of glycosylation, type Im, 610768
Tags
Green Green List (high evidence)
DONSON
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Microcephaly, short stature, and limb abnormalities, 617604
  • Microcephaly-micromelia syndrome, 251230
Tags
Green Green List (high evidence)
DPAGT1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750
  • Congenital disorder of glycosylation, type Ij, 608093
Tags
Green Green List (high evidence)
DPF2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Coffin-Siris syndrome 7, 618027
Tags
Green Green List (high evidence)
DPH1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Developmental delay with short stature, dysmorphic facial features, and sparse hair, 616901
Tags
Green Green List (high evidence)
DPM1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Congenital disorder of glycosylation, type Ie, 608799
Tags
Green Green List (high evidence)
DPM2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Congenital disorder of glycosylation, type Iu, 615042
Tags
Green Green List (high evidence)
DPM3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937
Tags
Green Green List (high evidence)
DPP6
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Mental retardation, autosomal dominant 33, 616311
Tags
Green Green List (high evidence)
DPYD
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • 5-fluorouracil toxicity, 274270
  • Dihydropyrimidine dehydrogenase deficiency, 274270
Tags
Green Green List (high evidence)
DPYS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Dihydropyrimidinuria, 222748
Tags
Green Green List (high evidence)
DSP
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676
  • Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821
  • Skin fragility-woolly hair syndrome, 607655
  • Arrhythmogenic right ventricular dysplasia 8, 607450
  • Keratosis palmoplantaris striata II, 612908
  • Epidermolysis bullosa, lethal acantholytic, 609638
Tags
Green Green List (high evidence)
DSPP
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Dentinogenesis imperfecta, Shields type II, 125490
  • Dentinogenesis imperfecta, Shields type III, 125500
  • Deafness, autosomal dominant 39, with dentinogenesis, 605594
  • Dentin dysplasia, type II, 125420
Tags
Green Green List (high evidence)
DSTYK
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Spastic paraplegia 23, 270750
  • Congenital anomalies of kidney and urinary tract 1, 610805
Tags
Green Green List (high evidence)
DTNBP1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Hermansky-Pudlak syndrome 7, 614076
Tags
Green Green List (high evidence)
DUOX2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Thyroid dyshormonogenesis 6, 607200
Tags
Green Green List (high evidence)
DVL1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Robinow syndrome, autosomal dominant 2, 616331
Tags
Green Green List (high evidence)
DVL3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Robinow syndrome, autosomal dominant 3, 616894
Tags
Green Green List (high evidence)
DYM
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Dyggve-Melchior-Clausen disease, 223800
  • Smith-McCort dysplasia, 607326
Tags
Green Green List (high evidence)
DYNC1H1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600
  • Mental retardation, autosomal dominant 13, 614563
  • Charcot-Marie-Tooth disease, axonal, type 20, 614228
Tags
Green Green List (high evidence)
DYNC2H1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Short-rib thoracic dysplasia 3 with or without polydactyly, 613091
Tags
Green Green List (high evidence)
DYNC2LI1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Short-rib thoracic dysplasia 15 with polydactyly, 617088
Tags
Green Green List (high evidence)
DYRK1A
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Mental retardation, autosomal dominant 7, 614104
Tags
Green Green List (high evidence)
DYSF
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Myopathy, distal, with anterior tibial onset, 606768
  • Muscular dystrophy, limb-girdle, autosomal recessive 2, 253601
  • Miyoshi muscular dystrophy 1, 254130
Tags
Green Green List (high evidence)
DZIP1L
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Polycystic kidney disease 5, 617610
Tags
Green Green List (high evidence)
EARS2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Combined oxidative phosphorylation deficiency 12, 614924
Tags
Green Green List (high evidence)
EBF3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Hypotonia, ataxia, and delayed development syndrome, 617330
Tags
Green Green List (high evidence)
EBP
1 review
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
  • Next Generation Children Project
Phenotypes
  • Chondrodysplasia punctata, X-linked dominant, 302960
  • MEND syndrome, 300960
Tags
Green Green List (high evidence)
ECEL1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Arthrogryposis, distal, type 5D, 615065
Tags
Green Green List (high evidence)
ECHS1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277
Tags
Green Green List (high evidence)
EDA
1 review
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
  • Next Generation Children Project
Phenotypes
  • Tooth agenesis, selective, X-linked 1, 313500
  • Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100
Tags
Green Green List (high evidence)
EDAR
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490
  • Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900
Tags
Green Green List (high evidence)
EDARADD
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941
  • Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940
Tags
Green Green List (high evidence)
EDNRA
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Mandibulofacial dysostosis with alopecia, 616367
Tags
Green Green List (high evidence)
EDNRB
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Waardenburg syndrome, type 4A, 277580
  • ABCD syndrome, 600501
Tags
Green Green List (high evidence)
EED
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cohen-Gibson syndrome, 617561
Tags
Green Green List (high evidence)
EEF1A2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Mental retardation, autosomal dominant 38, 616393
  • Epileptic encephalopathy, early infantile, 33, 616409
Tags
Green Green List (high evidence)
EFHC1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • {Epilepsy, juvenile absence, susceptibility to, 1}, 607631
  • {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770
Tags
Green Green List (high evidence)
EFNB1
1 review
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
  • Next Generation Children Project
Phenotypes
  • Craniofrontonasal dysplasia, 304110
Tags
Green Green List (high evidence)
EFTUD2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Mandibulofacial dysostosis, Guion-Almeida type, 610536
Tags
Green Green List (high evidence)
EGR2
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Charcot-Marie-Tooth disease, type 1D, 607678
  • Dejerine-Sottas disease, 145900
  • Hypomyelinating neuropathy, congenital, 1, 605253
Tags
Green Green List (high evidence)
EHMT1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Kleefstra syndrome 1, 610253
Tags
Green Green List (high evidence)
EIF2AK3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Wolcott-Rallison syndrome, 226980
Tags
Green Green List (high evidence)
EIF2B1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Leukoencephalopathy with vanishing white matter, 603896
Tags
Green Green List (high evidence)
EIF2B2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Leukoencephalopathy with vanishing white matter, 603896
  • Ovarioleukodystrophy, 603896
Tags
Green Green List (high evidence)
EIF2B3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Leukoencephalopathy with vanishing white matter, 603896
Tags
Green Green List (high evidence)
EIF2B4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Leukoencephalopathy with vanishing white matter, 603896
  • Ovarioleukodystrophy, 603896
Tags
Green Green List (high evidence)
EIF2B5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Leukoencephalopathy with vanishing white matter, 603896
  • Ovarioleukodystrophy, 603896
Tags
Green Green List (high evidence)
EIF2S3
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • MEHMO syndrome, 300148
Tags
Green Green List (high evidence)
EIF3F
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Mental retardation, autosomal recessive 67, 618295
Tags
Green Green List (high evidence)
EIF4A3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Robin sequence with cleft mandible and limb anomalies, 268305
Tags
Green Green List (high evidence)
ELAC2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Combined oxidative phosphorylation deficiency 17, 615440
Tags
Green Green List (high evidence)
ELANE
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Neutropenia, severe congenital 1, autosomal dominant, 202700
  • Neutropenia, cyclic, 162800
Tags
Green Green List (high evidence)
ELN
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cutis laxa, autosomal dominant, 123700
  • Supravalvar aortic stenosis, 185500
Tags
Green Green List (high evidence)
ELOVL4
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Stargardt disease 3, 600110
  • Ichthyosis, spastic quadriplegia, and mental retardation, 614457
  • Spinocerebellar ataxia 34, 133190
Tags
Green Green List (high evidence)
ELOVL5
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Spinocerebellar ataxia 38, 615957
Tags
Green Green List (high evidence)
ELP1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Dysautonomia, familial, 223900
Tags
Green Green List (high evidence)
ELP2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Mental retardation, autosomal recessive 58, 617270
Tags
Green Green List (high evidence)
EMC1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cerebellar atrophy, visual impairment, and psychomotor retardation, 616875
Tags
Green Green List (high evidence)
EMD
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Emery-Dreifuss muscular dystrophy 1, X-linked, 310300
Tags
Green Green List (high evidence)
EML1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Band heterotopia, 600348
Tags
Green Green List (high evidence)
EMX2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Schizencephaly, 269160
Tags
Green Green List (high evidence)
ENG
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 1, 187300
Tags
Green Green List (high evidence)
ENO3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Glycogen storage disease XIII, 612932
Tags
Green Green List (high evidence)
ENPP1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Arterial calcification, generalized, of infancy, 1, 208000
  • Cole disease, 615522
  • Hypophosphatemic rickets, autosomal recessive, 2, 613312
Tags
Green Green List (high evidence)
ENTPD1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Spastic paraplegia 64, autosomal recessive, 615683
Tags
Green Green List (high evidence)
EOGT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Adams-Oliver syndrome 4, 615297
Tags
Green Green List (high evidence)
EP300
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Rubinstein-Taybi syndrome 2, 613684
  • Menke-Hennekam syndrome 2, 618333
Tags
Green Green List (high evidence)
EPB41
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Elliptocytosis-1, 611804
Tags
Green Green List (high evidence)
EPB42
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Spherocytosis, type 5, 612690
Tags
Green Green List (high evidence)
EPG5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Vici syndrome, 242840
Tags
Green Green List (high evidence)
EPHB4
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Capillary malformation-arteriovenous malformation 2, 618196
  • Lymphatic malformation 7, 617300
Tags
Green Green List (high evidence)
EPM2A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Epilepsy, progressive myoclonic 2A (Lafora), 254780
Tags
Green Green List (high evidence)
EPRS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Leukodystrophy, hypomyelinating, 15, 617951
Tags
  • new-gene-name
Green Green List (high evidence)
ERCC1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cerebrooculofacioskeletal syndrome 4, 610758
Tags
Green Green List (high evidence)
ERCC2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • ?Cerebrooculofacioskeletal syndrome 2, 610756
  • Trichothiodystrophy 1, photosensitive, 601675
  • Xeroderma pigmentosum, group D, 278730
Tags
Green Green List (high evidence)
ERCC3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Trichothiodystrophy 2, photosensitive, 616390
  • Xeroderma pigmentosum, group B, 610651
Tags
Green Green List (high evidence)
ERCC4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Xeroderma pigmentosum, group F, 278760
  • Fanconi anemia, complementation group Q, 615272
  • XFE progeroid syndrome, 610965
  • Xeroderma pigmentosum, type F/Cockayne syndrome, 278760
Tags
Green Green List (high evidence)
ERCC5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cerebrooculofacioskeletal syndrome 3, 616570
  • Xeroderma pigmentosum, group G/Cockayne syndrome, 278780
  • Xeroderma pigmentosum, group G, 278780
Tags
Green Green List (high evidence)
ERCC6
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cerebrooculofacioskeletal syndrome 1, 214150
  • UV-sensitive syndrome 1, 600630
  • De Sanctis-Cacchione syndrome, 278800
  • Cockayne syndrome, type B, 133540
  • Premature ovarian failure 11, 616946
Tags
Green Green List (high evidence)
ERCC6L2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Bone marrow failure syndrome 2, 615715
Tags
Green Green List (high evidence)
ERCC8
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cockayne syndrome, type A, 216400
  • UV-sensitive syndrome 2, 614621
Tags
Green Green List (high evidence)
ERF
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Chitayat syndrome, 617180
  • Craniosynostosis 4, 600775
Tags
Green Green List (high evidence)
ERLIN1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Spastic paraplegia 62, 615681
Tags
Green Green List (high evidence)
ERLIN2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Spastic paraplegia 18, autosomal recessive, 611225
Tags
Green Green List (high evidence)
ESCO2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • SC phocomelia syndrome, 269000
  • Roberts syndrome, 268300
Tags
Green Green List (high evidence)
ESRRB
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Deafness, autosomal recessive 35, 608565
Tags
Green Green List (high evidence)
ETFA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Glutaric acidemia IIA, 231680
Tags
Green Green List (high evidence)
ETFB
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Glutaric acidemia IIB, 231680
Tags
Green Green List (high evidence)
ETFDH
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Glutaric acidemia IIC, 231680
Tags
Green Green List (high evidence)
ETHE1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Ethylmalonic encephalopathy, 602473
Tags
Green Green List (high evidence)
ETV6
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Thrombocytopenia 5, 616216
Tags
Green Green List (high evidence)
EVC
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Ellis-van Creveld syndrome, 225500
  • ?Weyers acrofacial dysostosis, 193530
Tags
Green Green List (high evidence)
EVC2
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Ellis-van Creveld syndrome, 225500
  • Weyers acrofacial dysostosis, 193530
Tags
Green Green List (high evidence)
EXOSC3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Pontocerebellar hypoplasia, type 1B, 614678
Tags
Green Green List (high evidence)
EXT1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Chondrosarcoma, 215300
  • Exostoses, multiple, type 1, 133700
Tags
Green Green List (high evidence)
EXT2
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Exostoses, multiple, type 2, 133701
  • Seizures, scoliosis, and macrocephaly syndrome, 616682
Tags
Green Green List (high evidence)
EXTL3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425
Tags
Green Green List (high evidence)
EYA1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • ?Otofaciocervical syndrome, 166780
  • Branchiootorenal syndrome 1, with or without cataracts, 113650
  • Anterior segment anomalies with or without cataract, 602588
  • Branchiootic syndrome 1, 602588
Tags
Green Green List (high evidence)
EYA4
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • ?Cardiomyopathy, dilated, 1J, 605362
  • Deafness, autosomal dominant 10, 601316
Tags
Green Green List (high evidence)
EZH2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Weaver syndrome, 277590
Tags
Green Green List (high evidence)
F10
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Factor X deficiency, 227600
Tags
Green Green List (high evidence)
F11
1 review
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Factor XI deficiency, autosomal recessive, 612416
  • Factor XI deficiency, autosomal dominant, 612416
Tags
Green Green List (high evidence)
F12
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Factor XII deficiency, 234000
  • Angioedema, hereditary, type III, 610618
Tags
Green Green List (high evidence)
F13A1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Factor XIIIA deficiency, 613225
Tags
Green Green List (high evidence)
F13B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Factor XIIIB deficiency, 613235
Tags
Green Green List (high evidence)
F2
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Dysprothrombinemia, 613679
  • Thrombophilia due to thrombin defect, 188050
  • Hypoprothrombinemia, 613679
Tags
Green Green List (high evidence)
F5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Factor V deficiency, 227400
Tags
Green Green List (high evidence)
F7
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Factor VII deficiency, 227500
Tags
Green Green List (high evidence)
F8
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Hemophilia A, 306700
Tags
Green Green List (high evidence)
F9
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Thrombophilia, X-linked, due to factor IX defect, 300807
  • Hemophilia B, 306900
Tags
Green Green List (high evidence)
FA2H
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Spastic paraplegia 35, autosomal recessive, 612319
Tags
Green Green List (high evidence)
FADD
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations, 613759
Tags
Green Green List (high evidence)
FAH
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Tyrosinemia, type I, 276700
Tags
Green Green List (high evidence)
FAM111A
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Gracile bone dysplasia, 602361
  • Kenny-Caffey syndrome, type 2, 127000
Tags
Green Green List (high evidence)
FAM111B
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, 615704
Tags
Green Green List (high evidence)
FAM126A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Leukodystrophy, hypomyelinating, 5, 610532
Tags
Green Green List (high evidence)
FAM161A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Retinitis pigmentosa 28, 606068
Tags
Green Green List (high evidence)
FAM20A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690
Tags
Green Green List (high evidence)
FAM20C
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Raine syndrome, 259775
Tags
Green Green List (high evidence)
FAM58A
1 review
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
  • Next Generation Children Project
Phenotypes
  • STAR syndrome, 300707
Tags
  • new-gene-name
Green Green List (high evidence)
FANCA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Fanconi anemia, complementation group A, 227650
Tags
Green Green List (high evidence)
FANCB
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Fanconi anemia, complementation group B, 300514
Tags
Green Green List (high evidence)
FANCC
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Fanconi anemia, complementation group C, 227645
Tags
Green Green List (high evidence)
FANCD2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Fanconi anemia, complementation group D2, 227646
Tags
Green Green List (high evidence)
FANCE
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Fanconi anemia, complementation group E, 600901
Tags
Green Green List (high evidence)
FANCF
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Fanconi anemia, complementation group F, 603467
Tags
Green Green List (high evidence)
FANCG
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Fanconi anemia, complementation group G, 614082
Tags
Green Green List (high evidence)
FANCI
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Fanconi anemia, complementation group I, 609053
Tags
Green Green List (high evidence)
FANCL
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Fanconi anemia, complementation group L, 614083
Tags
Green Green List (high evidence)
FAR1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Peroxisomal fatty acyl-CoA reductase 1 disorder, 616154
Tags
Green Green List (high evidence)
FARS2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Spastic paraplegia 77, autosomal recessive, 617046
  • Combined oxidative phosphorylation deficiency 14, 614946
Tags
Green Green List (high evidence)
FAS
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Autoimmune lymphoproliferative syndrome, type IA, 601859
Tags
Green Green List (high evidence)
FASLG
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Autoimmune lymphoproliferative syndrome, type IB, 601859
Tags
Green Green List (high evidence)
FAT4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Hennekam lymphangiectasia-lymphedema syndrome 2, 616006
  • Van Maldergem syndrome 2, 615546
Tags
Green Green List (high evidence)
FBLN5
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Macular degeneration, age-related, 3, 608895
  • Cutis laxa, autosomal recessive, type IA, 219100
  • Neuropathy, hereditary, with or without age-related macular degeneration, 608895
  • ?Cutis laxa, autosomal dominant 2, 614434
Tags
Green Green List (high evidence)
FBN1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Weill-Marchesani syndrome 2, dominant, 608328
  • Ectopia lentis, familial, 129600
  • Geleophysic dysplasia 2, 614185
  • Marfan lipodystrophy syndrome, 616914
  • Stiff skin syndrome, 184900
  • Marfan syndrome, 154700
  • MASS syndrome, 604308
  • Acromicric dysplasia, 102370
Tags
Green Green List (high evidence)
FBN2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Macular degeneration, early-onset, 616118
  • Contractural arachnodactyly, congenital, 121050
Tags
Green Green List (high evidence)
FBP1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Fructose-1,6-bisphosphatase deficiency, 229700
Tags
Green Green List (high evidence)
FBXL3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Intellectual developmental disorder with short stature, facial anomalies, and speech defects, 606220
Tags
Green Green List (high evidence)
FBXL4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471
Tags
Green Green List (high evidence)
FBXO11
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, 618089
Tags
Green Green List (high evidence)
FBXO7
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Parkinson disease 15, autosomal recessive, 260300
Tags
Green Green List (high evidence)
FCGR3A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Immunodeficiency 20, 615707
Tags
Green Green List (high evidence)
FCGR3B
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Neutropenia, alloimmune neonatal
Tags
Green Green List (high evidence)
FCN3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Immunodeficiency due to ficolin 3 deficiency, 613860
Tags
Green Green List (high evidence)
FDX2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, 251900
Tags
Green Green List (high evidence)
FDXR
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Auditory neuropathy and optic atrophy, 617717
Tags
Green Green List (high evidence)
FECH
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Protoporphyria, erythropoietic, 1, 177000
Tags
Green Green List (high evidence)
FERMT3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Leukocyte adhesion deficiency, type III, 612840
Tags
Green Green List (high evidence)
FGA
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Dysfibrinogenemia, congenital, 616004
  • Hypodysfibrinogenemia, congenital, 616004
  • Amyloidosis, familial visceral, 105200
  • Afibrinogenemia, congenital, 202400
Tags
Green Green List (high evidence)
FGB
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Dysfibrinogenemia, congenital, 616004
  • Afibrinogenemia, congenital, 202400
  • Hypofibrinogenemia, congenital, 202400
Tags
Green Green List (high evidence)
FGD1
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Mental retardation, X-linked syndromic 16, 305400
  • Aarskog-Scott syndrome, 305400
Tags
Green Green List (high evidence)
FGD4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Charcot-Marie-Tooth disease, type 4H, 609311
Tags
Green Green List (high evidence)
FGF10
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • LADD syndrome, 149730
  • Aplasia of lacrimal and salivary glands, 180920
Tags
Green Green List (high evidence)
FGF12
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Epileptic encephalopathy, early infantile, 47, 617166
Tags
Green Green List (high evidence)
FGF14
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Spinocerebellar ataxia 27, 609307
Tags
Green Green List (high evidence)
FGF16
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Metacarpal 4-5 fusion, 309630
Tags
Green Green List (high evidence)
FGF23
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Hypophosphatemic rickets, autosomal dominant, 193100
  • Tumoral calcinosis, hyperphosphatemic, familial, 2, 617993
  • Osteomalacia, tumor-induced
Tags
Green Green List (high evidence)
FGF3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Deafness, congenital with inner ear agenesis, microtia, and microdontia, 610706
Tags
Green Green List (high evidence)
FGF8
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Hypogonadotropic hypogonadism 6 with or without anosmia, 612702
Tags
Green Green List (high evidence)
FGFR1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Pfeiffer syndrome, 101600
  • Osteoglophonic dysplasia, 166250
  • Hypogonadotropic hypogonadism 2 with or without anosmia, 147950
  • Hartsfield syndrome, 615465
  • Jackson-Weiss syndrome, 123150
  • Trigonocephaly 1, 190440
Tags
Green Green List (high evidence)
FGFR2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Saethre-Chotzen syndrome, 101400
  • Apert syndrome, 101200
  • Beare-Stevenson cutis gyrata syndrome, 123790
  • Pfeiffer syndrome, 101600
  • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410
  • Crouzon syndrome, 123500
  • Scaphocephaly and Axenfeld-Rieger anomaly
  • Craniofacial-skeletal-dermatologic dysplasia, 101600
  • Bent bone dysplasia syndrome, 614592
  • Craniosynostosis, nonspecific
  • LADD syndrome, 149730
  • Scaphocephaly, maxillary retrusion, and mental retardation, 609579
  • Jackson-Weiss syndrome, 123150
Tags
Green Green List (high evidence)
FGFR3
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Thanatophoric dysplasia, type II, 187601
  • Muenke syndrome, 602849
  • SADDAN, 616482
  • Crouzon syndrome with acanthosis nigricans, 612247
  • CATSHL syndrome, 610474
  • Achondroplasia, 100800
  • LADD syndrome, 149730
  • Thanatophoric dysplasia, type I, 187600
  • Hypochondroplasia, 146000
Tags
Green Green List (high evidence)
FGG
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Dysfibrinogenemia, congenital, 616004
  • Hypodysfibrinogenemia, 616004
  • Afibrinogenemia, congenital, 202400
  • Hypofibrinogenemia, congenital, 202400
Tags
Green Green List (high evidence)
FH
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Leiomyomatosis and renal cell cancer, 150800
  • Fumarase deficiency, 606812
Tags
Green Green List (high evidence)
FHL1
1 review
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
  • Next Generation Children Project
Phenotypes
  • ?Uruguay faciocardiomusculoskeletal syndrome, 300280
  • Emery-Dreifuss muscular dystrophy 6, X-linked, 300696
  • Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717
  • Myopathy, X-linked, with postural muscle atrophy, 300696
  • Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718
  • Scapuloperoneal myopathy, X-linked dominant, 300695
Tags
Green Green List (high evidence)
FIG4
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Charcot-Marie-Tooth disease, type 4J, 611228
  • Yunis-Varon syndrome, 216340
  • ?Polymicrogyria, bilateral temporooccipital, 612691
  • Amyotrophic lateral sclerosis 11, 612577
Tags
Green Green List (high evidence)
FKBP10
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Bruck syndrome 1, 259450
  • Osteogenesis imperfecta, type XI, 610968
Tags
Green Green List (high evidence)
FKBP14
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Ehlers-Danlos syndrome, kyphoscoliotic type, 2, 614557
Tags
Green Green List (high evidence)
FKRP
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, 606612
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155
Tags
Green Green List (high evidence)
FKTN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, 613152
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800
  • Cardiomyopathy, dilated, 1X, 611615
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588
Tags
Green Green List (high evidence)
FLAD1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, 255100
Tags
Green Green List (high evidence)
FLCN
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Pneumothorax, primary spontaneous, 173600
  • Birt-Hogg-Dube syndrome, 135150
Tags
Green Green List (high evidence)
FLI1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Bleeding disorder, platelet-type, 21, 617443
Tags
Green Green List (high evidence)
FLNA
1 review
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
  • Next Generation Children Project
Phenotypes
  • Melnick-Needles syndrome, 309350
  • Congenital short bowel syndrome, 300048
  • Terminal osseous dysplasia, 300244
  • Intestinal pseudoobstruction, neuronal, 300048
  • ?FG syndrome 2, 300321
  • Otopalatodigital syndrome, type II, 304120
  • Heterotopia, periventricular, 1, 300049
  • Cardiac valvular dysplasia, X-linked, 314400
  • Frontometaphyseal dysplasia 1, 305620
  • Otopalatodigital syndrome, type I, 311300
Tags
Green Green List (high evidence)
FLNB
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Spondylocarpotarsal synostosis syndrome, 272460
  • Atelosteogenesis, type III, 108721
  • Larsen syndrome, 150250
  • Boomerang dysplasia, 112310
  • Atelosteogenesis, type I, 108720
Tags
Green Green List (high evidence)
FLNC
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cardiomyopathy, familial restrictive 5, 617047
  • Cardiomyopathy, familial hypertrophic, 26
  • Myopathy, distal, 4, 614065
  • Myopathy, myofibrillar, 5, 609524
Tags
Green Green List (high evidence)
FLT4
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Lymphatic malformation 1, 153100
Tags
Green Green List (high evidence)
FLVCR1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Ataxia, posterior column, with retinitis pigmentosa, 609033
Tags
Green Green List (high evidence)
FLVCR2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, 225790
Tags
Green Green List (high evidence)
FMN2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Mental retardation, autosomal recessive 47, 616193
Tags
Green Green List (high evidence)
FMO3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Trimethylaminuria, 602079
Tags
Green Green List (high evidence)
FMR1
1 review
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
  • Next Generation Children Project
Phenotypes
  • Fragile X syndrome, 300624
  • Premature ovarian failure 1, 311360
  • Fragile X tremor/ataxia syndrome, 300623
Tags
Green Green List (high evidence)
FN1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Plasma fibronectin deficiency, 614101
  • Glomerulopathy with fibronectin deposits 2, 601894
  • Spondylometaphyseal dysplasia, corner fracture type, 184255
Tags
Green Green List (high evidence)
FOLR1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Neurodegeneration due to cerebral folate transport deficiency, 613068
Tags
Green Green List (high evidence)
FOXC1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Anterior segment dysgenesis 3, multiple subtypes, 601631
  • Axenfeld-Rieger syndrome, type 3, 602482
Tags
Green Green List (high evidence)
FOXC2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400
  • Lymphedema-distichiasis syndrome, 153400
Tags
Green Green List (high evidence)
FOXE1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Bamforth-Lazarus syndrome, 241850
Tags
Green Green List (high evidence)
FOXE3
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cataract 34, multiple types, 612968
  • Anterior segment dysgenesis 2, multiple subtypes, 610256
Tags
Green Green List (high evidence)
FOXF1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Alveolar capillary dysplasia with misalignment of pulmonary veins, 265380
Tags
Green Green List (high evidence)
FOXG1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Rett syndrome, congenital variant, 613454
Tags
Green Green List (high evidence)
FOXN1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705
Tags
Green Green List (high evidence)
FOXP1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Mental retardation with language impairment and with or without autistic features, 613670
Tags
Green Green List (high evidence)
FOXP2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Speech-language disorder-1, 602081
Tags
Green Green List (high evidence)
FOXP3
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790
Tags
Green Green List (high evidence)
FOXRED1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 19, 618241
Tags
Green Green List (high evidence)
FRAS1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Fraser syndrome 1, 219000
Tags
Green Green List (high evidence)
FREM1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Trigonocephaly 2, 614485
  • Manitoba oculotrichoanal syndrome, 248450
  • Bifid nose with or without anorectal and renal anomalies, 608980
Tags
Green Green List (high evidence)
FREM2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Fraser syndrome 2, 617666
  • Cryptophthalmos, unilateral or bilateral, isolated, 123570
Tags
Green Green List (high evidence)
FRMD7
1 review
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
  • Next Generation Children Project
Phenotypes
  • Nystagmus 1, congenital, X-linked, 310700
  • Nystagmus, infantile periodic alternating, X-linked, 310700
Tags
Green Green List (high evidence)
FRMPD4
1 review
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
  • Next Generation Children Project
Phenotypes
  • Mental retardation, X-linked 104, 300983
Tags
Green Green List (high evidence)
FRRS1L
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Epileptic encephalopathy, early infantile, 37, 616981
Tags
Green Green List (high evidence)
FTCD
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Glutamate formiminotransferase deficiency, 229100
Tags
Green Green List (high evidence)
FTL
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Hyperferritinemia-cataract syndrome, 600886
  • L-ferritin deficiency, dominant and recessive, 615604
  • Neurodegeneration with brain iron accumulation 3, 606159
Tags
Green Green List (high evidence)
FTSJ1
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Mental retardation, X-linked 9/44, 309549
Tags
Green Green List (high evidence)
FUCA1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Fucosidosis, 230000
Tags
Green Green List (high evidence)
FUT8
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Congenital disorder of glycosylation with defective fucosylation 1, 618005
Tags
Green Green List (high evidence)
FXN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Friedreich ataxia with retained reflexes, 229300
  • Friedreich ataxia, 229300
Tags
Green Green List (high evidence)
FYB1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Thrombocytopenia 3, 273900
Tags
Green Green List (high evidence)
FYCO1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cataract 18, autosomal recessive, 610019
Tags
Green Green List (high evidence)
FZD2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Omodysplasia 2, 164745
Tags
Green Green List (high evidence)
FZD6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Nail disorder, nonsyndromic congenital, 10, (claw-shaped nails), 614157
Tags
Green Green List (high evidence)
G6PC
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Glycogen storage disease Ia, 232200
Tags
Green Green List (high evidence)
G6PC3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Dursun syndrome, 612541
  • Neutropenia, severe congenital 4, autosomal recessive, 612541
Tags
Green Green List (high evidence)
G6PD
1 review
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
  • Next Generation Children Project
Phenotypes
  • Hemolytic anemia, G6PD deficient (favism), 300908
Tags
Green Green List (high evidence)
GAA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Glycogen storage disease II, 232300
Tags
Green Green List (high evidence)
GABBR2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Neurodevelopmental disorder with poor language and loss of hand skills, 617903
  • Epileptic encephalopathy, early infantile, 59, 617904
Tags
Green Green List (high evidence)
GABRA1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • {Epilepsy, childhood absence, susceptibility to, 4}, 611136
  • Epileptic encephalopathy, early infantile, 19, 615744
  • {Epilepsy, juvenile myoclonic, susceptibility to, 5}, 611136
Tags
Green Green List (high evidence)
GABRA2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Epileptic encephalopathy, early infantile, 78, 618557
Tags
Green Green List (high evidence)
GABRB2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Epileptic encephalopathy, infantile or early childhood, 2, 617829
Tags
Green Green List (high evidence)
GABRB3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Epileptic encephalopathy, early infantile, 43, 617113
Tags
Green Green List (high evidence)
GABRG2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Epileptic encephalopathy, early infantile, 74, 618396
  • Epilepsy, generalized, with febrile seizures plus, type 3, 607681
  • Febrile seizures, familial, 8, 607681
Tags
Green Green List (high evidence)
GALC
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Krabbe disease, 245200
Tags
Green Green List (high evidence)
GALE
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Galactose epimerase deficiency, 230350
Tags
Green Green List (high evidence)
GALK1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Galactokinase deficiency with cataracts, 230200
Tags
Green Green List (high evidence)
GALNS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Mucopolysaccharidosis IVA, 253000
Tags
Green Green List (high evidence)
GALNT3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Tumoral calcinosis, hyperphosphatemic, familial, 1, 211900
Tags
Green Green List (high evidence)
GALT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Galactosemia, 230400
Tags
Green Green List (high evidence)
GAMT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cerebral creatine deficiency syndrome 2, 612736
Tags
Green Green List (high evidence)
GAN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Giant axonal neuropathy-1, 256850
Tags
Green Green List (high evidence)
GANAB
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Polycystic kidney disease 3, 600666
Tags
Green Green List (high evidence)
GARS
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Charcot-Marie-Tooth disease, type 2D, 601472
  • Neuropathy, distal hereditary motor, type VA, 600794
Tags
  • new-gene-name
Green Green List (high evidence)
GAS8
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Ciliary dyskinesia, primary, 33, 616726
Tags
Green Green List (high evidence)
GATA1
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835
  • Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367
  • Thrombocytopenia with beta-thalassemia, X-linked, 314050
Tags
Green Green List (high evidence)
GATA2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Immunodeficiency 21, 614172
  • Emberger syndrome, 614038
Tags
Green Green List (high evidence)
GATA3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255
Tags
Green Green List (high evidence)
GATA4
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Tetralogy of Fallot, 187500
  • Atrial septal defect 2, 607941
  • ?Testicular anomalies with or without congenital heart disease, 615542
  • Atrioventricular septal defect 4, 614430
  • Ventricular septal defect 1, 614429
Tags
Green Green List (high evidence)
GATA6
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Persistent truncus arteriosus, 217095
  • Tetralogy of Fallot, 187500
  • Atrioventricular septal defect 5, 614474
  • Atrial septal defect 9, 614475
  • Pancreatic agenesis and congenital heart defects, 600001
Tags
Green Green List (high evidence)
GATAD2B
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Mental retardation, autosomal dominant 18, 615074
Tags
Green Green List (high evidence)
GATM
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cerebral creatine deficiency syndrome 3, 612718
Tags
Green Green List (high evidence)
GBA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Gaucher disease, perinatal lethal, 608013
  • Gaucher disease, type III, 231000
  • Gaucher disease, type I, 230800
  • Gaucher disease, type IIIC, 231005
  • Gaucher disease, type II, 230900
Tags
Green Green List (high evidence)
GBA2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Spastic paraplegia 46, autosomal recessive, 614409
Tags
Green Green List (high evidence)
GBE1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Polyglucosan body disease, adult form, 263570
  • Glycogen storage disease IV, 232500
Tags
Green Green List (high evidence)
GCDH
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Glutaricaciduria, type I, 231670
Tags
Green Green List (high evidence)
GCH1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230
  • Hyperphenylalaninemia, BH4-deficient, B, 233910
Tags
Green Green List (high evidence)
GCK
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Diabetes mellitus, permanent neonatal, 606176
  • MODY, type II, 125851
  • Hyperinsulinemic hypoglycemia, familial, 3, 602485
  • Diabetes mellitus, noninsulin-dependent, late onset, 125853
Tags
Green Green List (high evidence)
GCLC
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450
Tags
Green Green List (high evidence)
GDAP1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706
  • Charcot-Marie-Tooth disease, axonal, type 2K, 607831
  • Charcot-Marie-Tooth disease, type 4A, 214400
  • Charcot-Marie-Tooth disease, recessive intermediate, A, 608340
Tags
Green Green List (high evidence)
GDF5
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Du Pan syndrome, 228900
  • Symphalangism, proximal, 1B, 615298
  • Chondrodysplasia, Grebe type, 200700
  • Brachydactyly, type A1, C, 615072
  • ?Acromesomelic dysplasia, Hunter-Thompson type, 201250
  • Multiple synostoses syndrome 2, 610017
  • Brachydactyly, type A2, 112600
  • Brachydactyly, type C, 113100
Tags
Green Green List (high evidence)
GDF6
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Leber congenital amaurosis 17, 615360
  • Multiple synostoses syndrome 4, 617898
  • Microphthalmia, isolated 4, 613094
  • Klippel-Feil syndrome 1, autosomal dominant, 118100
  • Microphthalmia with coloboma 6, digenic, 613703
Tags
Green Green List (high evidence)
GDI1
1 review
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
  • Next Generation Children Project
Phenotypes
  • Mental retardation, X-linked 41, 300849
Tags
Green Green List (high evidence)
GFAP
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Alexander disease, 203450
Tags
Green Green List (high evidence)
GFER
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076
Tags
Green Green List (high evidence)
GFI1B
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Bleeding disorder, platelet-type, 17, 187900
Tags
Green Green List (high evidence)
GFM1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Combined oxidative phosphorylation deficiency 1, 609060
Tags
Green Green List (high evidence)
GFM2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Combined oxidative phosphorylation deficiency 39, 618397
Tags
Green Green List (high evidence)
GFPT1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Myasthenia, congenital, 12, with tubular aggregates, 610542
Tags
Green Green List (high evidence)
GGCX
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, 610842
  • Vitamin K-dependent clotting factors, combined deficiency of, 1, 277450
Tags
Green Green List (high evidence)
GH1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Growth hormone deficiency, isolated, type IA, 262400
  • Kowarski syndrome, 262650
  • Growth hormone deficiency, isolated, type IB, 612781
  • Growth hormone deficiency, isolated, type II, 173100
Tags
Green Green List (high evidence)
GHR
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Laron dwarfism, 262500
  • Increased responsiveness to growth hormone, 604271
  • Growth hormone insensitivity, partial, 604271
Tags
Green Green List (high evidence)
GHRHR
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Growth hormone deficiency, isolated, type IV, 618157
Tags
Green Green List (high evidence)
GIF
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Intrinsic factor deficiency, 261000
Tags
  • new-gene-name
Green Green List (high evidence)
GINS1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Immunodeficiency 55, 617827
Tags
Green Green List (high evidence)
GIPC3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Deafness, autosomal recessive 15, 601869
Tags
Green Green List (high evidence)
GJA1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Oculodentodigital dysplasia, autosomal recessive, 257850
  • Syndactyly, type III, 186100
  • Craniometaphyseal dysplasia, autosomal recessive, 218400
  • Palmoplantar keratoderma with congenital alopecia, 104100
  • Atrioventricular septal defect 3, 600309
  • Erythrokeratodermia variabilis et progressiva 3, 617525
  • Hypoplastic left heart syndrome 1, 241550
  • Oculodentodigital dysplasia, 164200
Tags
Green Green List (high evidence)
GJA3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cataract 14, multiple types, 601885
Tags
Green Green List (high evidence)
GJA8
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Cataract 1, multiple types, 116200
Tags
Green Green List (high evidence)
GJB1
1 review
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
  • Next Generation Children Project
Phenotypes
  • Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800
Tags
Green Green List (high evidence)
GJB2
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Deafness, autosomal recessive 1A, 220290
  • Keratoderma, palmoplantar, with deafness, 148350
  • Vohwinkel syndrome, 124500
  • Deafness, autosomal dominant 3A, 601544
  • Hystrix-like ichthyosis with deafness, 602540
  • Bart-Pumphrey syndrome, 149200
  • Keratitis-ichthyosis-deafness syndrome, 148210
Tags
Green Green List (high evidence)
GJB3
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Deafness, autosomal dominant, with peripheral neuropathy
  • Deafness, autosomal recessive
  • Deafness, digenic, GJB2/GJB3, 220290
  • Erythrokeratodermia variabilis et progressiva 1, 133200
  • Deafness, autosomal dominant 2B, 612644
Tags
Green Green List (high evidence)
GJC2
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Spastic paraplegia 44, autosomal recessive, 613206
  • Lymphatic malformation 3, 613480
  • Leukodystrophy, hypomyelinating, 2, 608804
Tags
Green Green List (high evidence)
GK
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Glycerol kinase deficiency, 307030
Tags
Green Green List (high evidence)
GLA
1 review
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
  • Next Generation Children Project
Phenotypes
  • Fabry disease, cardiac variant, 301500
  • Fabry disease, 301500
Tags
Green Green List (high evidence)
GLB1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • GM1-gangliosidosis, type I, 230500
  • GM1-gangliosidosis, type III, 230650
  • Mucopolysaccharidosis type IVB (Morquio), 253010
  • GM1-gangliosidosis, type II, 230600
Tags
Green Green List (high evidence)
GLDC
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Glycine encephalopathy, 605899
Tags
Green Green List (high evidence)
GLDN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Lethal congenital contracture syndrome 11, 617194
Tags
Green Green List (high evidence)
GLE1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Next Generation Children Project
Phenotypes
  • Congenital arthrogryposis with anterior horn cell disease, 611890
  • Lethal congenital contracture syndrome 1, 253310
Tags
Green Green List (high evidence)