Severe Paediatric Disorders (Version 1.81)

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.

Panel Activity

7 reviewers

Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Dmitrijs Rots (RadboudUMC)

Group: Other
Workplace: Research lab
Catherine Snow (Genomics England)

Group: Other
Workplace: Other
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other

2691 Entities

2691 reviewed, 2598 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 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, OMIM:231550 Triple-A syndrome, MONDO:0009279 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, OMIM:613287 Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212 Developmental and epileptic encephalopathy 29, OMIM:616339 Developmental and epileptic encephalopathy, 29, MONDO:0014593 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, OMIM:238700 Hyperlysinemia (disease), MONDO:0009388 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, hereditary, OMIM: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 OMIM:618170 neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures MONDO:0100095 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, OMIM:614066 Hereditary spastic paraplegia 47, MONDO:0013551 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	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Ciliary dyskinesia, primary, 23, 615451 Tags new-gene-name
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 Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, OMIM: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 Cutis laxa, autosomal recessive, type IID, OMIM:617403 Developmental and epileptic encephalopathy 93, OMIM:618012 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 Joubert syndrome 34, OMIM:614175 Meckel syndrome 10, OMIM:614175 Meckel syndrome, type 10, MONDO:0013609 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	2 reviews	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 new-gene-name
Green Green List (high evidence)	C15orf41	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Dyserythropoietic anemia, congenital, type Ib, OMIM:615631 Congenital dyserythropoietic anemia type type 1B, MONDO:0014285 Tags new-gene-name
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	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Microcephaly Developmental Delay and Brittle Hair and Nail Microcephaly, developmental delay, and brittle hair syndrome MIM#618891 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	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Ciliary dyskinesia, primary, 20, 615067 Tags new-gene-name
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, OMIM:224120 Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135 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 Intellectual developmental disorder with hypotonia and behavioral abnormalities, 618748 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 OMIM:256731 neuronal ceroid lipofuscinosis 5 MONDO:0009745 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	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Pontocerebellar hypoplasia 10 OMIM:615803 Pontocerebellar hypoplasia type 10 MONDO:0014349 Tags founder-effect
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, OMIM:602668 Myotonic dystrophy type 2, MONDO:0011266 Tags currently-ngs-unreportable nucleotide-repeat-expansion
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 OMIM:618387 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770 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, nuclear type 7, OMIM:619051 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, OMIM:608643 Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084 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 Intellectual developmental disorder 62, 618793 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 Skewed X-inactivation
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)	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 OMIM:618292 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia MONDO:0032661 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 OMIM:617330 hypotonia, ataxia, and delayed development syndrome MONDO:0015021 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 hypertrophic, 26, OMIM:617047 Cardiomyopathy, familial restrictive 5, OMIM:617047 Hypertrophic cardiomyopathy 26, MONDO:0014883 Myopathy, distal, 4, OMIM:614065 Distal myopathy with posterior leg and anterior hand involvement, MONDO:0013550 Myopathy, myofibrillar, 5, OMIM:609524 Myopathy, myofibrillar, 5, MONDO:0012289 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 OMIM:229300 Friedreich ataxia with retained reflexes OMIM:229300 Friedreich ataxia 1 MONDO:0100340 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	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Glycogen storage disease Ia, 232200 Tags new-gene-name
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

Severe Paediatric Disorders (Version 1.81)

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