Severe Paediatric Disorders (Version 1.184)

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

12 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Tracy Lester (Genetics laboratory, Oxford UK)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Ian Berry (Leeds Genetics Laboratory)

Group: Other NHS organisation
Workplace: NHS diagnostic lab
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
Ataf Sabir (Birmingham Women's Hospital)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Dmitrijs Rots (Children's Clinical University Hospital)

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

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

Group: Other
Workplace: Other
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other

2692 Entities

2692 reviewed, 2599 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 2692 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	2 reviews	BOTH monoallelic and 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, OMIM:615688 Sneddon syndrome, OMIM:182410 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	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Analbuminemia, OMIM:616000 [Dysalbuminemic hyperthyroxinemia], OMIM:615999 ?[Dysalbuminemic hypertriiodothyroninemia], OMIM: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 Androgen insensitivity, OMIM:300068 Androgen insensitivity, partial, with or without breast cancer, OMIM:312300 Hypospadias 1, X-linked, OMIM:300633 Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200 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 Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, OMIM:618494 Dentatorubral-pallidoluysian atrophy, OMIM:125370 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	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spinocerebellar ataxia 1, OMIM:164400 Tags
Green Green List (high evidence)	ATXN10	2 reviews 1 red	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	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spinocerebellar ataxia 2, OMIM:183090 {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090 Tags
Green Green List (high evidence)	ATXN3	2 reviews 1 red	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	2 reviews 1 red	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	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Intellectual developmental disorder, autosomal recessive 66, OMIM:618221 Tags new-gene-name
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	2 reviews 1 red	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 Pityriasis rubra pilaris, OMIM:173200 Psoriasis 2, OMIM:602723 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 gene-checked
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, OMIM: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 nucleotide-repeat-expansion
Green Green List (high evidence)	CNBP_CCTG STR	4 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Myotonic dystrophy 2, OMIM:602668 Myotonic dystrophy type 2, MONDO:0011266 Tags STR
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	2 reviews 1 green	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)	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	2 reviews 1 green	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 Pseudoautosomal region 1
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	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Poirier-Bienvenu neurodevelopmental syndrome, OMIM:618732 Poirier-Bienvenu neurodevelopmental syndrome, MONDO:0032889 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 nucleotide-repeat-expansion
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	2 reviews	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 Dyskeratosis congenita, autosomal recessive 8, OMIM:620133 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	2 reviews 1 green	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)	DMPK	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Myotonic dystrophy 1, OMIM:160900 Tags currently-ngs-unreportable nucleotide-repeat-expansion
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 Autoinflammatory-pancytopenia syndrome, OMIM:619858 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	2 reviews 1 green	BOTH monoallelic and 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, OMIM:231680 multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 Tags
Green Green List (high evidence)	ETFB	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Glutaric acidemia IIB, OMIM:231680 multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 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 Angioedema, hereditary, 3, OMIM:610618 Factor XII deficiency, OMIM:234000 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	2 reviews	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	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Leukodystrophy, hypomyelinating, 5, 610532 Tags new-gene-name
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 OMIM:251900 mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MONDO:0020714 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	2 reviews	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 new-gene-name
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, type 2K, OMIM:607831 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, OMIM:607706 Charcot-Marie-Tooth disease, recessive intermediate, A, OMIM:608340 Charcot-Marie-Tooth disease, type 4A, OMIM:214400 Tags
Green Green List (high evidence)	GDF5	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Du Pan syndrome, 228900 Symphalangism, proximal, 1B, 615298 Chondrodysplasia, Grebe type, 200700 Brachydactyly, type A1, C, 615072 ?Acromesomelic dysplasia, Hunter-Thompson type, 201250 Multiple synostoses syndrome 2, 610017 Brachydactyly, type A2, 112600 Brachydactyly, type C, 113100 Tags
Green Green List (high evidence)	GDF6	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Leber congenital amaurosis 17, 615360 Multiple synostoses syndrome 4, 617898 Microphthalmia, isolated 4, 613094 Klippel-Feil syndrome 1, autosomal dominant, 118100 Microphthalmia with coloboma 6, digenic, 613703 Tags
Green Green List (high evidence)	GDI1	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mental retardation, X-linked 41, 300849 Tags
Green Green List (high evidence)	GFAP	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Alexander disease, 203450 Tags
Green Green List (high evidence)	GFER	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 Tags
Green Green List (high evidence)	GFI1B	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Bleeding disorder, platelet-type, 17, 187900 Tags
Green Green List (high evidence)	GFM1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Combined oxidative phosphorylation deficiency 1, 609060 Tags
Green Green List (high evidence)	GFM2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Combined oxidative phosphorylation deficiency 39, 618397 Tags
Green Green List (high evidence)	GFPT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Myasthenia, congenital, 12, with tubular aggregates, 610542 Tags
Green Green List (high evidence)	GGCX	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, 610842 Vitamin K-dependent clotting factors, combined deficiency of, 1, 277450 Tags
Green Green List (high evidence)	GH1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Growth hormone deficiency, isolated, type IA, 262400 Kowarski syndrome, 262650 Growth hormone deficiency, isolated, type IB, 612781 Growth hormone deficiency, isolated, type II, 173100 Tags
Green Green List (high evidence)	GHR	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Laron dwarfism, 262500 Increased responsiveness to growth hormone, 604271 Growth hormone insensitivity, partial, 604271 Tags
Green Green List (high evidence)	GHRHR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Growth hormone deficiency, isolated, type IV, 618157 Tags
Green Green List (high evidence)	GIF	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Intrinsic factor deficiency, 261000 Tags new-gene-name
Green Green List (high evidence)	GINS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Immunodeficiency 55, 617827 Tags
Green Green List (high evidence)	GIPC3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Deafness, autosomal recessive 15, 601869 Tags
Green Green List (high evidence)	GJA1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Oculodentodigital dysplasia, autosomal recessive, 257850 Syndactyly, type III, 186100 Craniometaphyseal dysplasia, autosomal recessive, 218400 Palmoplantar keratoderma with congenital alopecia, 104100 Atrioventricular septal defect 3, 600309 Erythrokeratodermia variabilis et progressiva 3, 617525 Hypoplastic left heart syndrome 1, 241550 Oculodentodigital dysplasia, 164200 Tags
Green Green List (high evidence)	GJA3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Cataract 14, multiple types, 601885 Tags
Green Green List (high evidence)	GJA8	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Cataract 1, multiple types, 116200 Tags
Green Green List (high evidence)	GJB1	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 Tags
Green Green List (high evidence)	GJB2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Deafness, autosomal recessive 1A, 220290 Keratoderma, palmoplantar, with deafness, 148350 Vohwinkel syndrome, 124500 Deafness, autosomal dominant 3A, 601544 Hystrix-like ichthyosis with deafness, 602540 Bart-Pumphrey syndrome, 149200 Keratitis-ichthyosis-deafness syndrome, 148210 Tags
Green Green List (high evidence)	GJB3	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Deafness, autosomal dominant, with peripheral neuropathy Deafness, autosomal recessive Deafness, digenic, GJB2/GJB3, 220290 Erythrokeratodermia variabilis et progressiva 1, 133200 Deafness, autosomal dominant 2B, 612644 Tags
Green Green List (high evidence)	GJC2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spastic paraplegia 44, autosomal recessive, 613206 Lymphatic malformation 3, 613480 Leukodystrophy, hypomyelinating, 2, 608804 Tags
Green Green List (high evidence)	GK	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Glycerol kinase deficiency, 307030 Tags
Green Green List (high evidence)	GLA	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Fabry disease, cardiac variant, 301500 Fabry disease, 301500 Tags
Green Green List (high evidence)	GLB1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes GM1-gangliosidosis, type I, 230500 GM1-gangliosidosis, type III, 230650 Mucopolysaccharidosis type IVB (Morquio), 253010 GM1-gangliosidosis, type II, 230600 Tags
Green Green List (high evidence)	GLDC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Glycine encephalopathy, 605899 Tags
Green Green List (high evidence)	GLDN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Lethal congenital contracture syndrome 11, 617194 Tags
Green Green List (high evidence)	GLE1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Congenital arthrogryposis with anterior horn cell disease, 611890 Lethal congenital contracture syndrome 1, 253310 Tags
Green Green List (high evidence)	GLI1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Polydactyly, preaxial I, 174400 Polydactyly, postaxial, type A8, 618123 Tags
Green Green List (high evidence)	GLI2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Holoprosencephaly 9, 610829 Culler-Jones syndrome, 615849 Tags
Green Green List (high evidence)	GLI3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Pallister-Hall syndrome, 146510 Greig cephalopolysyndactyly syndrome, 175700 Polydactyly, preaxial, type IV, 174700 Polydactyly, postaxial, types A1 and B, 174200 Tags
Green Green List (high evidence)	GLIS3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 Tags
Green Green List (high evidence)	GLMN	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Glomuvenous malformations, 138000 Tags
Green Green List (high evidence)	GLRA1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hyperekplexia 1, 149400 Tags
Green Green List (high evidence)	GLRB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hyperekplexia 2, 614619 Tags
Green Green List (high evidence)	GLRX5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spasticity, childhood-onset, with hyperglycinemia, 616859 Anemia, sideroblastic, 3, pyridoxine-refractory, 616860 Tags
Green Green List (high evidence)	GLUD1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hyperinsulinism-hyperammonemia syndrome, 606762 Tags
Green Green List (high evidence)	GLUL	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Glutamine deficiency, congenital, 610015 Tags
Green Green List (high evidence)	GLYCTK	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes D-glyceric aciduria, 220120 Tags
Green Green List (high evidence)	GM2A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes GM2-gangliosidosis, AB variant, 272750 Tags
Green Green List (high evidence)	GMNN	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Meier-Gorlin syndrome 6, 616835 Tags
Green Green List (high evidence)	GMPPA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Alacrima, achalasia, and mental retardation syndrome, 615510 Tags
Green Green List (high evidence)	GMPPB	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, 14, 615350 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, 615351 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 Tags
Green Green List (high evidence)	GNAI1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, OMIM:619854 Tags
Green Green List (high evidence)	GNAI3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Auriculocondylar syndrome 1, 602483 Tags
Green Green List (high evidence)	GNAL	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Dystonia 25, 615073 Tags
Green Green List (high evidence)	GNAO1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epileptic encephalopathy, early infantile, 17, 615473 Neurodevelopmental disorder with involuntary movements, 617493 Tags
Green Green List (high evidence)	GNAS	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Pseudopseudohypoparathyroidism, 612463 Pseudohypoparathyroidism Ia, 103580 Osseous heteroplasia, progressive, 166350 Pseudohypoparathyroidism Ic, 612462 ACTH-independent macronodular adrenal hyperplasia, 219080 Pseudohypoparathyroidism Ib, 603233 Tags
Green Green List (high evidence)	GNB1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mental retardation, autosomal dominant 42 OMIM:616973 intellectual disability, autosomal dominant 42 MONDO:0014855 Tags
Green Green List (high evidence)	GNB5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Intellectual developmental disorder with cardiac arrhythmia, 617173 Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182 Tags
Green Green List (high evidence)	GNE	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Sialuria, 269921 Nonaka myopathy, 605820 Tags
Green Green List (high evidence)	GNMT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Glycine N-methyltransferase deficiency, 606664 Tags
Green Green List (high evidence)	GNPAT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Rhizomelic chondrodysplasia punctata, type 2, 222765 Tags
Green Green List (high evidence)	GNPTAB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mucolipidosis III alpha/beta, 252600 Mucolipidosis II alpha/beta, 252500 Tags
Green Green List (high evidence)	GNPTG	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mucolipidosis III gamma, 252605 Tags
Green Green List (high evidence)	GNS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mucopolysaccharidosis type IIID, 252940 Tags
Green Green List (high evidence)	GORAB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Geroderma osteodysplasticum, 231070 Tags
Green Green List (high evidence)	GOSR2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epilepsy, progressive myoclonic 6, 614018 Tags
Green Green List (high evidence)	GP1BA	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Bernard-Soulier syndrome, type A2 (dominant), 153670 Bernard-Soulier syndrome, type A1 (recessive), 231200 von Willebrand disease, platelet-type, 177820 Tags
Green Green List (high evidence)	GP1BB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Giant platelet disorder, isolated, 231200 Bernard-Soulier syndrome, type B, 231200 Tags
Green Green List (high evidence)	GP6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Bleeding disorder, platelet-type, 11, 614201 Tags
Green Green List (high evidence)	GP9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Bernard-Soulier syndrome, type C, 231200 Tags
Green Green List (high evidence)	GPAA1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Glycosylphosphatidylinositol biosynthesis defect 15, 617810 Tags
Green Green List (high evidence)	GPC3	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Simpson-Golabi-Behmel syndrome, type 1, 312870 Tags
Green Green List (high evidence)	GPC6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Omodysplasia 1, 258315 Tags
Green Green List (high evidence)	GPD1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hypertriglyceridemia, transient infantile, 614480 Tags
Green Green List (high evidence)	GPHN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Molybdenum cofactor deficiency C, 615501 Tags
Green Green List (high evidence)	GPI	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470 Tags
Green Green List (high evidence)	GPR143	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 Ocular albinism, type I, Nettleship-Falls type, 300500 Nystagmus 6, congenital, X-linked, 300814 Tags
Green Green List (high evidence)	GPR179	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 Tags
Green Green List (high evidence)	GPSM2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Chudley-McCullough syndrome, 604213 Tags
Green Green List (high evidence)	GPT2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mental retardation, autosomal recessive 49, 616281 Tags
Green Green List (high evidence)	GRHL3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Van der Woude syndrome 2, 606713 Tags
Green Green List (high evidence)	GRHPR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hyperoxaluria, primary, type II, 260000 Tags
Green Green List (high evidence)	GRIA2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Neurodevelopmental disorder with language impairment and behavioral abnormalities, OMIM:618917 neurodevelopmental disorder with language impairment and behavioral abnormalities, MONDO:0030060 Tags
Green Green List (high evidence)	GRIA3	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 94, 300699 Tags
Green Green List (high evidence)	GRIA4	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Neurodevelopmental disorder with or without seizures and gait abnormalities, 617864 Tags
Green Green List (high evidence)	GRID2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spinocerebellar ataxia, autosomal recessive 18, 616204 Tags
Green Green List (high evidence)	GRIK2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mental retardation, autosomal recessive, 6, 611092 Tags
Green Green List (high evidence)	GRIN1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, 617820 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, 614254 Tags
Green Green List (high evidence)	GRIN2A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epilepsy, focal, with speech disorder and with or without mental retardation, 245570 Tags
Green Green List (high evidence)	GRIN2B	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epileptic encephalopathy, early infantile, 27, 616139 Mental retardation, autosomal dominant 6, 613970 Tags
Green Green List (high evidence)	GRIN2D	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epileptic encephalopathy, early infantile, 46, 617162 Tags
Green Green List (high evidence)	GRIP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Fraser syndrome 3, 617667 Tags
Green Green List (high evidence)	GRM1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spinocerebellar ataxia 44, 617691 Spinocerebellar ataxia, autosomal recessive 13, 614831 Tags
Green Green List (high evidence)	GRM6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 Tags
Green Green List (high evidence)	GRN	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Aphasia, primary progressive, 607485 Ceroid lipofuscinosis, neuronal, 11, 614706 Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485 Tags
Green Green List (high evidence)	GSC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, 602471 Tags
Green Green List (high evidence)	GSS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hemolytic anemia due to glutathione synthetase deficiency, 231900 Glutathione synthetase deficiency, 266130 Tags
Green Green List (high evidence)	GTF2H5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Trichothiodystrophy 3, photosensitive, 616395 Tags
Green Green List (high evidence)	GTPBP2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Jaberi-Elahi syndrome, 617988 Tags
Green Green List (high evidence)	GTPBP3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Combined oxidative phosphorylation deficiency 23, 616198 Tags
Green Green List (high evidence)	GUCY2C	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Diarrhea 6, 614616 Meconium ileus, 614665 Tags
Green Green List (high evidence)	GUSB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mucopolysaccharidosis VII, 253220 Tags
Green Green List (high evidence)	GYG1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Polyglucosan body myopathy 2, 616199 ?Glycogen storage disease XV, 613507 Tags
Green Green List (high evidence)	GYS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Glycogen storage disease 0, muscle, 611556 Tags
Green Green List (high evidence)	GYS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Glycogen storage disease 0, liver, 240600 Tags
Green Green List (high evidence)	GZF1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Joint laxity, short stature, and myopia, 617662 Tags
Green Green List (high evidence)	H19	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Silver-Russell syndrome, OMIM:180860 Wilms tumor 2, OMIM:194071 Beckwith-Wiedemann syndrome, OMIM:130650 Tags
Green Green List (high evidence)	HAAO	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Vertebral, cardiac, renal, and limb defects syndrome 1, 617660 Tags
Green Green List (high evidence)	HACE1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spastic paraplegia and psychomotor retardation with or without seizures, 616756 Tags
Green Green List (high evidence)	HADH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 Hyperinsulinemic hypoglycemia, familial, 4, 609975 Tags
Green Green List (high evidence)	HADHA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Fatty liver, acute, of pregnancy, 609016 LCHAD deficiency, 609016 Trifunctional protein deficiency, 609015 HELLP syndrome, maternal, of pregnancy, 609016 Tags
Green Green List (high evidence)	HADHB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Trifunctional protein deficiency, 609015 Tags
Green Green List (high evidence)	HAMP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hemochromatosis, type 2B, 613313 Tags
Green Green List (high evidence)	HAX1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Neutropenia, severe congenital 3, autosomal recessive, 610738 Tags
Green Green List (high evidence)	HBA1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Erythrocytosis, 7, 617981 Hemoglobin H disease, nondeletional, 613978 Heinz body anemias, alpha-, 140700 Thalassemias, alpha-, 604131 Methemoglobinemia, alpha type, 617973 Tags
Green Green List (high evidence)	HBA2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Erythrocytosis 7, 617981 Hemoglobin H disease, deletional and nondeletional, 613978 Thalassemia, alpha-, 604131 Heinz body anemia, 140700 Tags
Green Green List (high evidence)	HBB	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Delta-beta thalassemia, 141749 Methmoglobinemia, beta type, 617971 Heinz body anemia, 140700 Thalassemia, beta, 613985 Thalassemia-beta, dominant inclusion-body, 603902 Hereditary persistence of fetal hemoglobin, 141749 Erythrocytosis 6, 617980 Sickle cell anemia, 603903 Tags
Green Green List (high evidence)	HCCS	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 1, 309801 Tags
Green Green List (high evidence)	HCFC1	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 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 Tags
Green Green List (high evidence)	HCN1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epileptic encephalopathy, early infantile, 24, 615871 Generalized epilepsy with febrile seizures plus, type 10, 618482 Tags
Green Green List (high evidence)	HCN2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Febrile seizures Tags
Green Green List (high evidence)	HDAC4	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Brachydactyly-mental retardation syndrome, 600430 Tags
Green Green List (high evidence)	HDAC8	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 Cornelia de Lange syndrome 5, 300882 Tags
Green Green List (high evidence)	HECW2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Neurodevelopmental disorder with hypotonia, seizures, and absent language, 617268 Tags
Green Green List (high evidence)	HELLS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 4, 616911 Tags
Green Green List (high evidence)	HEPACAM	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926 Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 Tags
Green Green List (high evidence)	HERC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Macrocephaly, dysmorphic facies, and psychomotor retardation, 617011 Tags
Green Green List (high evidence)	HES7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spondylocostal dysostosis 4, autosomal recessive, 613686 Tags
Green Green List (high evidence)	HESX1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Pituitary hormone deficiency, combined, 5, 182230 Growth hormone deficiency with pituitary anomalies, 182230 Septooptic dysplasia, 182230 Tags
Green Green List (high evidence)	HEXA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes [Hex A pseudodeficiency], 272800 GM2-gangliosidosis, several forms, 272800 Tay-Sachs disease, 272800 Tags
Green Green List (high evidence)	HEXB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, 268800 Tags
Green Green List (high evidence)	HFE	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hemochromatosis, 235200 Tags
Green Green List (high evidence)	HFE2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hemochromatosis, type 2A, 602390 Tags new-gene-name
Green Green List (high evidence)	HGD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Alkaptonuria, 203500 Tags
Green Green List (high evidence)	HGSNAT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 Retinitis pigmentosa 73, 616544 Tags
Green Green List (high evidence)	HIBCH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 Tags
Green Green List (high evidence)	HINT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Neuromyotonia and axonal neuropathy, autosomal recessive, 137200 Tags
Green Green List (high evidence)	HIST1H1E	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Rahman syndrome, 617537 Tags new-gene-name
Green Green List (high evidence)	HIVEP2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mental retardation, autosomal dominant 43, 616977 Tags
Green Green List (high evidence)	HK1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Retinitis pigmentosa 79, 617460 Hemolytic anemia due to hexokinase deficiency, 235700 Neurodevelopmental disorder with visual defects and brain anomalies, 618547 Neuropathy, hereditary motor and sensory, Russe type, 605285 Tags
Green Green List (high evidence)	HLCS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Holocarboxylase synthetase deficiency, 253270 Tags
Green Green List (high evidence)	HMBS	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Porphyria, acute intermittent, 176000 Porphyria, acute intermittent, nonerythroid variant, 176000 Tags
Green Green List (high evidence)	HMGCL	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes HMG-CoA lyase deficiency, 246450 Tags
Green Green List (high evidence)	HMGCS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes HMG-CoA synthase-2 deficiency, 605911 Tags
Green Green List (high evidence)	HNF1B	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Diabetes mellitus, noninsulin-dependent, 125853 Renal cysts and diabetes syndrome, 137920 Tags
Green Green List (high evidence)	HNF4A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes MODY, type I, 125850 Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, 616026 Tags
Green Green List (high evidence)	HNRNPH1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes HNRNPH1-related neurodevelopmental disorder Tags
Green Green List (high evidence)	HNRNPH2	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, Bain type, 300986 Tags
Green Green List (high evidence)	HNRNPK	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Au-Kline syndrome, 616580 Tags
Green Green List (high evidence)	HNRNPU	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epileptic encephalopathy, early infantile, 54, 617391 Tags
Green Green List (high evidence)	HOGA1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hyperoxaluria, primary, type III, 613616 Tags
Green Green List (high evidence)	HOXA1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Athabaskan brainstem dysgenesis syndrome, 601536 Bosley-Salih-Alorainy syndrome, 601536 Tags
Green Green List (high evidence)	HOXA11	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, 605432 Tags
Green Green List (high evidence)	HOXA13	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hand-foot-uterus syndrome, 140000 ?Guttmacher syndrome, 176305 Tags
Green Green List (high evidence)	HOXC13	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Ectodermal dysplasia 9, hair/nail type, 614931 Tags
Green Green List (high evidence)	HOXD13	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes ?Brachydactyly-syndactyly syndrome, 610713 Synpolydactyly 1, 186000 Syndactyly, type V, 186300 Brachydactyly, type E, 113300 Brachydactyly, type D, 113200 Tags
Green Green List (high evidence)	HPCA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Dystonia 2, torsion, autosomal recessive, 224500 Tags
Green Green List (high evidence)	HPD	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Tyrosinemia, type III, 276710 Hawkinsinuria, 140350 Tags
Green Green List (high evidence)	HPGD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100 Cranioosteoarthropathy, 259100 Digital clubbing, isolated congenital, 119900 Tags
Green Green List (high evidence)	HPRT1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Lesch-Nyhan syndrome, 300322 HPRT-related gout, 300323 Tags
Green Green List (high evidence)	HPS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hermansky-Pudlak syndrome 1, 203300 Tags
Green Green List (high evidence)	HPS3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hermansky-Pudlak syndrome 3, 614072 Tags
Green Green List (high evidence)	HPS4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hermansky-Pudlak syndrome 4, 614073 Tags
Green Green List (high evidence)	HPS5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hermansky-Pudlak syndrome 5, 614074 Tags
Green Green List (high evidence)	HPS6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hermansky-Pudlak syndrome 6, 614075 Tags
Green Green List (high evidence)	HPSE2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Urofacial syndrome 1, 236730 Tags
Green Green List (high evidence)	HR	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Alopecia universalis, 203655 Atrichia with papular lesions, 209500 Hypotrichosis 4, 146550 Tags
Green Green List (high evidence)	HRAS	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Congenital myopathy with excess of muscle spindles, 218040 Costello syndrome, 218040 Tags
Green Green List (high evidence)	HSD17B10	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 HSD10 mitochondrial disease, 300438 Tags
Green Green List (high evidence)	HSD17B3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Pseudohermaphroditism, male, with gynecomastia, 264300 Tags
Green Green List (high evidence)	HSD17B4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes D-bifunctional protein deficiency, 261515 Perrault syndrome 1, 233400 Tags
Green Green List (high evidence)	HSD3B7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Bile acid synthesis defect, congenital, 1, 607765 Tags
Green Green List (high evidence)	HSF4	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Cataract 5, multiple types, 116800 Tags
Green Green List (high evidence)	HSPB1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Neuropathy, distal hereditary motor, type IIB, 608634 Charcot-Marie-Tooth disease, axonal, type 2F, 606595 Tags
Green Green List (high evidence)	HSPB8	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 2L, 608673 Neuropathy, distal hereditary motor, type IIA, 158590 Tags
Green Green List (high evidence)	HSPD1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spastic paraplegia 13, autosomal dominant, 605280 Leukodystrophy, hypomyelinating, 4, 612233 Tags
Green Green List (high evidence)	HSPG2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Schwartz-Jampel syndrome, type 1, OMIM:255800 Schwartz-Jampel syndrome, MONDO:0009717 Dyssegmental dysplasia, Silverman-Handmaker type, OMIM:224410 Silverman-Handmaker type dyssegmental dysplasia, MONDO:0009140 Tags
Green Green List (high evidence)	HTRA1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes CARASIL syndrome, 600142 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779 Tags
Green Green List (high evidence)	HTRA2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes 3-methylglutaconic aciduria, type VIII, 617248 Tags
Green Green List (high evidence)	HTT	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Lopes-Maciel-Rodan syndrome, 617435 Huntington disease, 143100 Tags
Green Green List (high evidence)	HUWE1	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, Turner type, 309590 Tags
Green Green List (high evidence)	HYDIN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Ciliary dyskinesia, primary, 5, 608647 Tags
Green Green List (high evidence)	HYLS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hydrolethalus syndrome, 236680 Tags
Green Green List (high evidence)	IARS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093 Tags new-gene-name
Green Green List (high evidence)	IARS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, 616007 Tags
Green Green List (high evidence)	IBA57	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Multiple mitochondrial dysfunctions syndrome 3, 615330 ?Spastic paraplegia 74, autosomal recessive, 616451 Tags
Green Green List (high evidence)	ICK	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes {Epilepsy, juvenile myoclonic, susceptibility to, 10}, OMIM:617924 Endocrine-cerebroosteodysplasia, OMIM:612651 Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980 Tags new-gene-name
Green Green List (high evidence)	ICOS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Immunodeficiency, common variable, 1, 607594 Tags
Green Green List (high evidence)	IDH2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes D-2-hydroxyglutaric aciduria 2, 613657 Tags
Green Green List (high evidence)	IDS	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mucopolysaccharidosis II, 309900 Tags
Green Green List (high evidence)	IDUA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mucopolysaccharidosis Ih/s, 607015 Mucopolysaccharidosis Is, 607016 Mucopolysaccharidosis Ih, 607014 Tags
Green Green List (high evidence)	IER3IP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Microcephaly, epilepsy, and diabetes syndrome, 614231 Tags
Green Green List (high evidence)	IFIH1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Singleton-Merten syndrome 1, 182250 Aicardi-Goutieres syndrome 7, 615846 Tags
Green Green List (high evidence)	IFITM5	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Osteogenesis imperfecta, type V, 610967 Tags
Green Green List (high evidence)	IFNGR1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Immunodeficiency 27A, mycobacteriosis, AR, 209950 Immunodeficiency 27B, mycobacteriosis, AD, 615978 Tags
Green Green List (high evidence)	IFNGR2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Immunodeficiency 28, mycobacteriosis, 614889 Tags
Green Green List (high evidence)	IFT122	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Cranioectodermal dysplasia 1, 218330 Tags
Green Green List (high evidence)	IFT140	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 Retinitis pigmentosa 80, 617781 Tags
Green Green List (high evidence)	IFT172	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Short-rib thoracic dysplasia 10 with or without polydactyly, 615630 Retinitis pigmentosa 71, 616394 Tags
Green Green List (high evidence)	IFT43	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Short-rib thoracic dysplasia 18 with polydactyly, 617866 ?Cranioectodermal dysplasia 3, 614099 ?Retinitis pigmentosa 81, 617871 Tags
Green Green List (high evidence)	IFT52	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102 Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915 Tags
Green Green List (high evidence)	IFT80	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 Tags
Green Green List (high evidence)	IFT81	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Short-rib thoracic dysplasia 19 with or without polydactyly, 617895 Tags
Green Green List (high evidence)	IGF1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747 Tags
Green Green List (high evidence)	IGF1R	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Insulin-like growth factor I, resistance to, 270450 Tags
Green Green List (high evidence)	IGF2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Beckwith-Wiedemann Syndrome Chromosome 11p15.5-Related Russell-Silver Syndrome Tags
Green Green List (high evidence)	IGFALS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Acid-labile subunit, deficiency of, 615961 Tags
Green Green List (high evidence)	IGHM	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Agammaglobulinemia 1, 601495 Tags
Green Green List (high evidence)	IGHMBP2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Neuronopathy, distal hereditary motor, type VI, 604320 Charcot-Marie-Tooth disease, axonal, type 2S, 616155 Tags
Green Green List (high evidence)	IGKC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Kappa light chain deficiency, 614102 Tags
Green Green List (high evidence)	IGLL1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Agammaglobulinemia 2, 613500 Tags
Green Green List (high evidence)	IGSF1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hypothyroidism, central, and testicular enlargement, 300888 Tags
Green Green List (high evidence)	IHH	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Acrocapitofemoral dysplasia, 607778 Brachydactyly, type A1, 112500 Tags
Green Green List (high evidence)	IKBKB	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Immunodeficiency 15A, 618204 Immunodeficiency 15B, 615592 Tags
Green Green List (high evidence)	IKBKG	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Invasive pneumococcal disease, recurrent isolated, 2, 300640 Incontinentia pigmenti, 308300 Immunodeficiency 33, 300636 Ectodermal dysplasia and immunodeficiency 1, 300291 Immunodeficiency, isolated, 300584 Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 Tags
Green Green List (high evidence)	IKZF1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Immunodeficiency, common variable, 13, 616873 Tags
Green Green List (high evidence)	IL10RA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Inflammatory bowel disease 28, early onset, autosomal recessive, 613148 Tags
Green Green List (high evidence)	IL10RB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Inflammatory bowel disease 25, early onset, autosomal recessive, 612567 Tags
Green Green List (high evidence)	IL11RA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Craniosynostosis and dental anomalies, 614188 Tags
Green Green List (high evidence)	IL12B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Immunodeficiency 29, mycobacteriosis, 614890 Tags
Green Green List (high evidence)	IL12RB1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Immunodeficiency 30, 614891 Tags
Green Green List (high evidence)	IL17RA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Immunodeficiency 51, 613953 Tags
Green Green List (high evidence)	IL17RC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Candidiasis, familial, 9, 616445 Tags
Green Green List (high evidence)	IL1RAPL1	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 21/34, 300143 Tags
Green Green List (high evidence)	IL1RN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Interleukin 1 receptor antagonist deficiency, OMIM:612852 Tags
Green Green List (high evidence)	IL21R	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Immunodeficiency 56, 615207 Tags
Green Green List (high evidence)	IL2RA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Immunodeficiency 41 with lymphoproliferation and autoimmunity, 606367 Tags
Green Green List (high evidence)	IL2RG	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Combined immunodeficiency, X-linked, moderate, 312863 Severe combined immunodeficiency, X-linked, 300400 Tags
Green Green List (high evidence)	IL36RN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Psoriasis 14, pustular, OMIM:614204 Tags
Green Green List (high evidence)	IL7R	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 Tags
Green Green List (high evidence)	ILDR1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Deafness, autosomal recessive 42, 609646 Tags
Green Green List (high evidence)	IMPAD1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Chondrodysplasia with joint dislocations, GPAPP type, 614078 Tags
Green Green List (high evidence)	INF2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Charcot-Marie-Tooth disease, dominant intermediate E, 614455 Glomerulosclerosis, focal segmental, 5, 613237 Tags
Green Green List (high evidence)	INO80	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes INO80 deficiency Tags
Green Green List (high evidence)	INPP5E	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Joubert syndrome 1, 213300 Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 Tags
Green Green List (high evidence)	INPP5K	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Muscular dystrophy, congenital, with cataracts and intellectual disability, 617404 Tags
Green Green List (high evidence)	INPPL1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Opsismodysplasia, 258480 Tags
Green Green List (high evidence)	INSR	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Leprechaunism, 246200 Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 Rabson-Mendenhall syndrome, 262190 Hyperinsulinemic hypoglycemia, familial, 5, 609968 Tags
Green Green List (high evidence)	INTS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, 618571 Tags
Green Green List (high evidence)	INTU	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes ?Short-rib thoracic dysplasia 20 with polydactyly, 617925 ?Orofaciodigital syndrome XVII, 617926 Tags
Green Green List (high evidence)	INVS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Nephronophthisis 2, infantile, 602088 Tags
Green Green List (high evidence)	IQCB1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Senior-Loken syndrome 5, 609254 Tags
Green Green List (high evidence)	IQSEC2	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 1/78, 309530 Tags
Green Green List (high evidence)	IRAK4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Invasive pneumococcal disease, recurrent isolated, 1, 610799 IRAK4 deficiency, 607676 Tags
Green Green List (high evidence)	IRF2BPL	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, 618088 Tags
Green Green List (high evidence)	IRF6	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes van der Woude syndrome, 119300 Popliteal pterygium syndrome 1, 119500 Tags
Green Green List (high evidence)	IRF8	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, 226990 Immunodeficiency 32A, mycobacteriosis, autosomal dominant, 614893 Tags
Green Green List (high evidence)	IRX5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hamamy syndrome, 611174 Tags
Green Green List (high evidence)	ISCA1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Multiple mitochondrial dysfunctions syndrome 5, 617613 Tags
Green Green List (high evidence)	ISCA2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Multiple mitochondrial dysfunctions syndrome 4, 616370 Tags
Green Green List (high evidence)	ISCU	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Myopathy with lactic acidosis, hereditary, 255125 Tags
Green Green List (high evidence)	ISG15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Immunodeficiency 38, 616126 Tags
Green Green List (high evidence)	ISPD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 Tags new-gene-name
Green Green List (high evidence)	ITCH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Autoimmune disease, multisystem, with facial dysmorphism, 613385 Tags
Green Green List (high evidence)	ITGA2B	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 Thrombocytopenia, neonatal alloimmune, BAK antigen related Glanzmann thrombasthenia, 273800 Tags
Green Green List (high evidence)	ITGA3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, 614748 Tags
Green Green List (high evidence)	ITGA6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 Tags
Green Green List (high evidence)	ITGA7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204 Tags
Green Green List (high evidence)	ITGA8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Renal hypodysplasia/aplasia 1, 191830 Tags
Green Green List (high evidence)	ITGB2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Leukocyte adhesion deficiency, 116920 Tags
Green Green List (high evidence)	ITGB3	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 Purpura, posttransfusion Glanzmann thrombasthenia, 273800 Thrombocytopenia, neonatal alloimmune Tags
Green Green List (high evidence)	ITGB4	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epidermolysis bullosa, junctional, with pyloric atresia, 226730 Epidermolysis bullosa of hands and feet, 131800 Epidermolysis bullosa, junctional, non-Herlitz type, 226650 Tags
Green Green List (high evidence)	ITK	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Lymphoproliferative syndrome 1, 613011 Tags
Green Green List (high evidence)	ITPA	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes [Inosine triphosphatase deficiency], 613850 Epileptic encephalopathy, early infantile, 35, 616647 Tags
Green Green List (high evidence)	ITPR1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spinocerebellar ataxia 15, 606658 Gillespie syndrome, 206700 Spinocerebellar ataxia 29, congenital nonprogressive, 117360 Tags
Green Green List (high evidence)	ITSN2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Nephrotic syndrome Tags
Green Green List (high evidence)	IVD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Isovaleric acidemia, 243500 Tags
Green Green List (high evidence)	JAG1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Alagille syndrome 1, 118450 ?Deafness, congenital heart defects, and posterior embryotoxon, 617992 Tetralogy of Fallot, 187500 Tags
Green Green List (high evidence)	JAGN1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Neutropenia, severe congenital, 6, autosomal recessive, 616022 Tags
Green Green List (high evidence)	JAK3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes SCID, autosomal recessive, T-negative/B-positive type, 600802 Tags
Green Green List (high evidence)	JAM3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 Tags
Green Green List (high evidence)	JPH2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Cardiomyopathy, hypertrophic, 17, 613873 Tags
Green Green List (high evidence)	JPH3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Huntington disease-like 2, OMIM:606438 Tags
Green Green List (high evidence)	JUP	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Arrhythmogenic right ventricular dysplasia 12, 611528 Naxos disease, 601214 Tags
Green Green List (high evidence)	KANSL1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Koolen-De Vries syndrome, 610443 Tags
Green Green List (high evidence)	KARS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 Deafness, autosomal recessive 89, 613916 Tags new-gene-name
Green Green List (high evidence)	KAT6A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mental retardation, autosomal dominant 32, 616268 Tags
Green Green List (high evidence)	KAT6B	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Genitopatellar syndrome, 606170 SBBYSS syndrome, 603736 Tags
Green Green List (high evidence)	KATNB1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Lissencephaly 6, with microcephaly, OMIM:616212, MONDO:0014534 Tags
Green Green List (high evidence)	KBTBD13	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Nemaline myopathy 6, autosomal dominant, 609273 Tags
Green Green List (high evidence)	KCNA1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Episodic ataxia/myokymia syndrome, 160120 Tags
Green Green List (high evidence)	KCNA2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epileptic encephalopathy, early infantile, 32, 616366 Tags
Green Green List (high evidence)	KCNB1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epileptic encephalopathy, early infantile, 26, 616056 Tags
Green Green List (high evidence)	KCNC1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epilepsy, progressive myoclonic 7, 616187 Tags
Green Green List (high evidence)	KCNC3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spinocerebellar ataxia 13, 605259 Tags
Green Green List (high evidence)	KCND3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Brugada syndrome 9, 616399 Spinocerebellar ataxia 19, 607346 Tags
Green Green List (high evidence)	KCNE1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Long QT syndrome 5, 613695 Jervell and Lange-Nielsen syndrome 2, 612347 Tags
Green Green List (high evidence)	KCNH1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Zimmermann-Laband syndrome 1, 135500 Temple-Baraitser syndrome, 611816 Tags
Green Green List (high evidence)	KCNJ1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Bartter syndrome, type 2, 241200 Tags
Green Green List (high evidence)	KCNJ10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Enlarged vestibular aqueduct, digenic, 600791 SESAME syndrome, 612780 Tags
Green Green List (high evidence)	KCNJ11	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Diabetes mellitus, transient neonatal, 3, 610582 Maturity-onset diabetes of the young, type 13, 616329 Diabetes, permanent neonatal, with or without neurologic features, 606176 Hyperinsulinemic hypoglycemia, familial, 2, 601820 Tags
Green Green List (high evidence)	KCNJ2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Short QT syndrome 3, OMIM:609622 Short QT syndrome type 3, MONDO:0012314 Atrial fibrillation, familial, 9, OMIM:613980 Atrial fibrillation, familial, 9, MONDO:0013513 Andersen syndrome, OMIM:170390 Andersen-Tawil syndrome, MONDO:0008222 Tags
Green Green List (high evidence)	KCNJ6	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Keppen-Lubinsky syndrome, 614098 Tags
Green Green List (high evidence)	KCNK4	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome, 618381 Tags
Green Green List (high evidence)	KCNK9	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Birk-Barel mental retardation dysmorphism syndrome, 612292 Tags
Green Green List (high evidence)	KCNMA1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Cerebellar atrophy, developmental delay, and seizures, OMIM:617643 Cerebellar atrophy, developmental delay, and seizures, MONDO:0060551 Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, OMIM:609446 Generalized epilepsy-paroxysmal dyskinesia syndrome, MONDO:0012276 Liang-Wang syndrome, OMIM:618729 Liang-Wang syndrome, MONDO:0032886 Tags
Green Green List (high evidence)	KCNQ1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Short QT syndrome 2, 609621 Atrial fibrillation, familial, 3, 607554 Long QT syndrome 1, 192500 Jervell and Lange-Nielsen syndrome, 220400 Tags
Green Green List (high evidence)	KCNQ2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epileptic encephalopathy, early infantile, 7, 613720 Seizures, benign neonatal, 1, 121200 Myokymia, 121200 Tags
Green Green List (high evidence)	KCNQ3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Seizures, benign neonatal, 2, 121201 Tags
Green Green List (high evidence)	KCNQ4	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Deafness, autosomal dominant 2A, 600101 Tags
Green Green List (high evidence)	KCNQ5	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mental retardation, autosomal dominant 46, 617601 Tags
Green Green List (high evidence)	KCNT1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epileptic encephalopathy, early infantile, 14, 614959 Epilepsy, nocturnal frontal lobe, 5, 615005 Tags
Green Green List (high evidence)	KCTD1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Scalp-ear-nipple syndrome, 181270 Tags
Green Green List (high evidence)	KCTD3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Developmental epileptic encephalopathy Tags
Green Green List (high evidence)	KCTD7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 Tags
Green Green List (high evidence)	KDM1A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Cleft palate, psychomotor retardation, and distinctive facial features, 616728 Tags
Green Green List (high evidence)	KDM5B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mental retardation, autosomal recessive 65, 618109 Tags
Green Green List (high evidence)	KDM5C	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, Claes-Jensen type, 300534 Tags
Green Green List (high evidence)	KDM6A	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 Kabuki syndrome 2, 300867 Tags
Green Green List (high evidence)	KDSR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Erythrokeratodermia variabilis et progressiva 4, 617526 Tags
Green Green List (high evidence)	KIAA0586	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Short-rib thoracic dysplasia 14 with polydactyly, 616546 Joubert syndrome 23, 616490 Tags
Green Green List (high evidence)	KIAA1109	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Alkuraya-Kucinskas syndrome, 617822 Tags new-gene-name
Green Green List (high evidence)	KIDINS220	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity, 617296 Tags
Green Green List (high evidence)	KIF11	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, 152950 Tags
Green Green List (high evidence)	KIF14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Microcephaly 20, primary, autosomal recessive, OMIM:617914 Microcephaly 20, primary, autosomal recessive, MONDO:0054761 Meckel syndrome 12, OMIM:616258 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552 Tags
Green Green List (high evidence)	KIF1A	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mental retardation, autosomal dominant 9, 614255 Spastic paraplegia 30, autosomal recessive, 610357 Neuropathy, hereditary sensory, type IIC, 614213 Tags
Green Green List (high evidence)	KIF1BP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Goldberg-Shprintzen megacolon syndrome, 609460 Tags new-gene-name
Green Green List (high evidence)	KIF1C	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spastic ataxia 2, autosomal recessive, 611302 Tags
Green Green List (high evidence)	KIF21A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Fibrosis of extraocular muscles, congenital, 1, 135700 Fibrosis of extraocular muscles, congenital, 3B, 135700 Tags
Green Green List (high evidence)	KIF22	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 Tags
Green Green List (high evidence)	KIF23	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes neonatal anemia Congenital dyserythropoietic anemia type III Tags
Green Green List (high evidence)	KIF2A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Cortical dysplasia, complex, with other brain malformations 3, 615411 Tags
Green Green List (high evidence)	KIF5A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spastic paraplegia 10, autosomal dominant, 604187 Myoclonus, intractable, neonatal, 617235 Tags
Green Green List (high evidence)	KIF5C	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Cortical dysplasia, complex, with other brain malformations 2, 615282 Tags
Green Green List (high evidence)	KIF7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Acrocallosal syndrome, 200990 ?Al-Gazali-Bakalinova syndrome, 607131 Joubert syndrome 12, 200990 ?Hydrolethalus syndrome 2, 614120 Tags
Green Green List (high evidence)	KIT	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Piebaldism, 172800 Mastocytosis, cutaneous, 154800 Tags
Green Green List (high evidence)	KLF1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Blood group--Lutheran inhibitor, 111150 Dyserythropoietic anemia, congenital, type IV, 613673 Tags
Green Green List (high evidence)	KLHL40	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Nemaline myopathy 8, autosomal recessive, 615348 Tags
Green Green List (high evidence)	KLHL41	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Nemaline myopathy 9, 615731 Tags
Green Green List (high evidence)	KLHL7	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Retinitis pigmentosa 42, 612943 Cold-induced sweating syndrome 3, 617055 Tags
Green Green List (high evidence)	KLKB1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Fletcher factor (prekallikrein) deficiency, 612423 Tags
Green Green List (high evidence)	KMT2A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Leukemia, myeloid/lymphoid or mixed-lineage, 159555 Wiedemann-Steiner syndrome, 605130 Tags
Green Green List (high evidence)	KMT2B	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Dystonia 28, childhood-onset, 617284 Tags
Green Green List (high evidence)	KMT2C	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Kleefstra syndrome 2, 617768 Tags
Green Green List (high evidence)	KMT2D	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Kabuki syndrome 1, 147920 Tags
Green Green List (high evidence)	KMT2E	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes O'Donnell-Luria-Rodan syndrome, 618512 Tags
Green Green List (high evidence)	KMT5B	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mental retardation, autosomal dominant 51, 617788 Tags
Green Green List (high evidence)	KNG1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Kininogen deficiency, 228960 Tags
Green Green List (high evidence)	KNL1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Microcephaly 4, primary, autosomal recessive, OMIM:604321 Microcephaly 4, primary, autosomal recessive, MONDO:0011437 Tags
Green Green List (high evidence)	KPTN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Intellectual developmental disorder, autosomal recessive 41, OMIM:615637 macrocephaly-developmental delay syndrome, MONDO:0014289 Tags
Green Green List (high evidence)	KRAS	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Leukemia, acute myeloid, 601626 Noonan syndrome 3, 609942 RAS-associated autoimmune leukoproliferative disorder, 614470 Tags
Green Green List (high evidence)	KRIT1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860 Cerebral cavernous malformations-1, 116860 Cavernous malformations of CNS and retina, 116860 Tags
Green Green List (high evidence)	KRT14	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 Dermatopathia pigmentosa reticularis, 125595 Epidermolysis bullosa simplex, Koebner type, 131900 Naegeli-Franceschetti-Jadassohn syndrome, 161000 Epidermolysis bullosa simplex, Dowling-Meara type, 131760 Epidermolysis bullosa simplex, recessive 1, 601001 Tags
Green Green List (high evidence)	KRT16	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Palmoplantar keratoderma, nonepidermolytic, focal, 613000 Pachyonychia congenita 1, 167200 Tags
Green Green List (high evidence)	KRT17	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Pachyonychia congenita 2, 167210 Steatocystoma multiplex, 184500 Tags
Green Green List (high evidence)	KRT5	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 Epidermolysis bullosa simplex, Koebner type, 131900 Epidermolysis bullosa simplex-MCR, 609352 Dowling-Degos disease 1, 179850 Epidermolysis bullosa simplex, Dowling-Meara type, 131760 Epidermolysis bullosa simplex-MP, 131960 Epidermolysis bullosa simplex, recessive 1, 601001 Tags
Green Green List (high evidence)	KRT6A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Pachyonychia congenita 3, 615726 Tags
Green Green List (high evidence)	KYNU	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes ?Hydroxykynureninuria, 236800 Vertebral, cardiac, renal, and limb defects syndrome 2, 617661 Tags
Green Green List (high evidence)	L1CAM	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hydrocephalus with Hirschsprung disease, 307000 Corpus callosum, partial agenesis of, 304100 MASA syndrome, 303350 Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000 CRASH syndrome, 303350 Hydrocephalus due to aqueductal stenosis, 307000 Tags
Green Green List (high evidence)	L2HGDH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes L-2-hydroxyglutaric aciduria, 236792 Tags
Green Green List (high evidence)	LAGE3	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Galloway-Mowat syndrome 2, X-linked, 301006 Tags
Green Green List (high evidence)	LAMA1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Poretti-Boltshauser syndrome, 615960 Tags
Green Green List (high evidence)	LAMA2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 23, 618138 Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 Tags
Green Green List (high evidence)	LAMA3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epidermolysis bullosa, junctional, Herlitz type, 226700 Epidermolysis bullosa, generalized atrophic benign, 226650 Laryngoonychocutaneous syndrome, 245660 Tags
Green Green List (high evidence)	LAMB1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Lissencephaly 5, 615191 Tags
Green Green List (high evidence)	LAMB2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199 Pierson syndrome, 609049 Tags
Green Green List (high evidence)	LAMB3	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Amelogenesis imperfecta, type IA, 104530 Epidermolysis bullosa, junctional, Herlitz type, 226700 Epidermolysis bullosa, junctional, non-Herlitz type, 226650 Tags
Green Green List (high evidence)	LAMC2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epidermolysis bullosa, junctional, Herlitz type, 226700 Epidermolysis bullosa, junctional, non-Herlitz type, 226650 Tags
Green Green List (high evidence)	LAMC3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Cortical malformations, occipital, 614115 Tags
Green Green List (high evidence)	LAMP2	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 Danon disease, 300257 Tags
Green Green List (high evidence)	LAMTOR2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Immunodeficiency due to defect in MAPBP-interacting protein, 610798 Tags
Green Green List (high evidence)	LARGE1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 Tags
Green Green List (high evidence)	LARP7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Alazami syndrome, 615071 Tags
Green Green List (high evidence)	LARS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Perrault syndrome 4, OMIM:615300 Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021 Tags
Green Green List (high evidence)	LAT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Immunodeficiency 52, 617514 Tags
Green Green List (high evidence)	LBR	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Pelger-Huet anomaly with mild skeletal anomalies, 618019 Pelger-Huet anomaly, 169400 ?Reynolds syndrome, 613471 Greenberg skeletal dysplasia, 215140 Tags
Green Green List (high evidence)	LCAT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Fish-eye disease, 136120 Norum disease, 245900 Tags
Green Green List (high evidence)	LCT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Lactase deficiency, congenital, 223000 Tags
Green Green List (high evidence)	LDB3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Myopathy, myofibrillar, 4, 609452 Left ventricular noncompaction 3, 601493 Cardiomyopathy, dilated, 1C, with or without LVNC, 601493 Cardiomyopathy, hypertrophic, 24, 601493 Tags
Green Green List (high evidence)	LDHA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Glycogen storage disease XI, 612933 Tags
Green Green List (high evidence)	LDLR	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes LDL cholesterol level QTL2, 143890 Hypercholesterolemia, familial, 1, 143890 Tags
Green Green List (high evidence)	LDLRAP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hypercholesterolemia, familial, 4, 603813 Tags
Green Green List (high evidence)	LEMD3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Buschke-Ollendorff syndrome, 166700 Osteopoikilosis with or without melorheostosis, 166700 Tags
Green Green List (high evidence)	LEPR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Obesity, morbid, due to leptin receptor deficiency, 614963 Tags
Green Green List (high evidence)	LFNG	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spondylocostal dysostosis 3, autosomal recessive, 609813 Tags
Green Green List (high evidence)	LGI1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epilepsy, familial temporal lobe, 1, 600512 Tags
Green Green List (high evidence)	LGI4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 Tags
Green Green List (high evidence)	LHFPL5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Deafness, autosomal recessive 67, 610265 Tags
Green Green List (high evidence)	LHX3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Pituitary hormone deficiency, combined, 3, 221750 Tags
Green Green List (high evidence)	LHX4	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Pituitary hormone deficiency, combined, 4, 262700 Tags
Green Green List (high evidence)	LIAS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hyperglycinemia, lactic acidosis, and seizures, 614462 Tags
Green Green List (high evidence)	LIFR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 Tags
Green Green List (high evidence)	LIG4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes LIG4 syndrome, 606593 Tags
Green Green List (high evidence)	LINS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mental retardation, autosomal recessive 27, 614340 Tags
Green Green List (high evidence)	LIPA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Wolman disease, 278000 Cholesteryl ester storage disease, 278000 Tags
Green Green List (high evidence)	LIPT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Lipoyltransferase 1 deficiency, 616299 Tags
Green Green List (high evidence)	LIPT2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668 Tags
Green Green List (high evidence)	LITAF	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 1C, 601098 Tags
Green Green List (high evidence)	LMAN1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Combined factor V and VIII deficiency, 227300 Tags
Green Green List (high evidence)	LMBR1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Syndactyly, type IV, 186200 Hypoplastic or aplastic tibia with polydactyly, 188740 Triphalangeal thumb, type I, 174500 Triphalangeal thumb-polysyndactyly syndrome, 174500 Polydactyly, preaxial type II, 174500 Laurin-Sandrow syndrome, 135750 Acheiropody, 200500 Tags
Green Green List (high evidence)	LMBRD1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Methylmalonic aciduria and homocystinuria, cblF type, 277380 Tags
Green Green List (high evidence)	LMNA	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Malouf syndrome, 212112 Hutchinson-Gilford progeria, 176670 Lipodystrophy, familial partial, type 2, 151660 Emery-Dreifuss muscular dystrophy 3, autosomal recessive, 616516 Heart-hand syndrome, Slovenian type, 610140 Cardiomyopathy, dilated, 1A, 115200 Emery-Dreifuss muscular dystrophy 2, autosomal dominant, 181350 Muscular dystrophy, congenital, 613205 Restrictive dermopathy, lethal, 275210 Charcot-Marie-Tooth disease, type 2B1, 605588 Mandibuloacral dysplasia, 248370 Tags
Green Green List (high evidence)	LMNB1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Leukodystrophy, adult-onset, autosomal dominant, 169500 Tags
Green Green List (high evidence)	LMOD3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Nemaline myopathy 10, 616165 Tags
Green Green List (high evidence)	LMX1B	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Nail-patella syndrome, 161200 Tags
Green Green List (high evidence)	LNPK	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, 618090 Tags
Green Green List (high evidence)	LONP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes CODAS syndrome, 600373 Tags
Green Green List (high evidence)	LOXHD1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Deafness, autosomal recessive 77, 613079 Tags
Green Green List (high evidence)	LPIN1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Myoglobinuria, acute recurrent, autosomal recessive, 268200 Tags
Green Green List (high evidence)	LPIN2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Majeed syndrome, OMIM:609628 Tags
Green Green List (high evidence)	LPL	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Lipoprotein lipase deficiency, 238600 Combined hyperlipidemia, familial, 144250 Tags
Green Green List (high evidence)	LRBA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Immunodeficiency, common variable, 8, with autoimmunity, 614700 Tags
Green Green List (high evidence)	LRIG2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Urofacial syndrome 2, 615112 Tags
Green Green List (high evidence)	LRP2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Donnai-Barrow syndrome, 222448 Tags
Green Green List (high evidence)	LRP4	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes ?Myasthenic syndrome, congenital, 17, 616304 Cenani-Lenz syndactyly syndrome, 212780 Sclerosteosis 2, 614305 Tags
Green Green List (high evidence)	LRP5	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes van Buchem disease, type 2, 607636 Osteosclerosis, 144750 Osteoporosis-pseudoglioma syndrome, 259770 Osteopetrosis, autosomal dominant 1, 607634 Exudative vitreoretinopathy 4, 601813 Polycystic liver disease 4 with or without kidney cysts, 617875 Hyperostosis, endosteal, 144750 Tags
Green Green List (high evidence)	LRPPRC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Leigh syndrome, French-Canadian type, 220111 Tags
Green Green List (high evidence)	LRRC6	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Ciliary dyskinesia, primary, 19, 614935 Tags new-gene-name
Green Green List (high evidence)	LRRK2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Parkinson disease 8, Autosomal Dominant, 607060 Tags
Green Green List (high evidence)	LRSAM1	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 2P, 614436 Tags
Green Green List (high evidence)	LRTOMT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Deafness, autosomal recessive 63, 611451 Tags
Green Green List (high evidence)	LTBP2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes ?Weill-Marchesani syndrome 3, recessive, 614819 Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 Glaucoma 3, primary congenital, D, 613086 Tags
Green Green List (high evidence)	LTBP3	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Geleophysic dysplasia 3, 617809 Dental anomalies and short stature, 601216 Tags
Green Green List (high evidence)	LTBP4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Cutis laxa, autosomal recessive, type IC, 613177 Tags
Green Green List (high evidence)	LYRM7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mitochondrial complex III deficiency, nuclear type 8, 615838 Tags
Green Green List (high evidence)	LYST	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Chediak-Higashi syndrome, 214500 Tags
Green Green List (high evidence)	LZTFL1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Bardet-Biedl syndrome 17, 615994 Tags
Green Green List (high evidence)	LZTR1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Noonan syndrome 10, 616564 Noonan syndrome 2, 605275 Tags
Green Green List (high evidence)	MAB21L1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Cerebellar, ocular, craniofacial, and genital syndrome, 618479 Tags
Green Green List (high evidence)	MAB21L2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Microphthalmia/coloboma and skeletal dysplasia syndrome, 615877 Tags
Green Green List (high evidence)	MACF1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Lissencephaly 9 with complex brainstem malformation, 618325 Tags
Green Green List (high evidence)	MAF	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Ayme-Gripp syndrome, 601088 Cataract 21, multiple types, 610202 Tags
Green Green List (high evidence)	MAFB	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Multicentric carpotarsal osteolysis syndrome, 166300 Duane retraction syndrome 3, 617041 Tags
Green Green List (high evidence)	MAGEL2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Schaaf-Yang syndrome, 615547 Tags
Green Green List (high evidence)	MAGI2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Nephrotic syndrome, type 15, 617609 Tags
Green Green List (high evidence)	MAGT1	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 magnesium defect, Epstein-Barr virus infection and neoplasia, 300853 Congenital disorder of glycosylation, type Icc, 301031 Tags
Green Green List (high evidence)	MALT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Immunodeficiency 12, 615468 Tags
Green Green List (high evidence)	MAN1B1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mental retardation, autosomal recessive 15, 614202 Tags
Green Green List (high evidence)	MAN2B1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mannosidosis, alpha-, types I and II, 248500 Tags
Green Green List (high evidence)	MANBA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mannosidosis, beta, 248510 Tags
Green Green List (high evidence)	MAOA	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Brunner syndrome, 300615 Tags
Green Green List (high evidence)	MAP2K1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Cardiofaciocutaneous syndrome 3, 615279 Tags
Green Green List (high evidence)	MAP2K2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Cardiofaciocutaneous syndrome 4, 615280 Tags
Green Green List (high evidence)	MAP3K1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes 46XY sex reversal 6, 613762 Tags
Green Green List (high evidence)	MAP3K20	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Centronuclear myopathy 6 with fiber-type disproportion, OMIM:617760 Myopathy, centronuclear, 6, with fiber-type disproportion, MONDO:0054695 Split-foot malformation with mesoaxial polydactyly, OMIM:616890 Split-foot malformation-mesoaxial polydactyly syndrome, MONDO:0014816 Tags
Green Green List (high evidence)	MAP3K7	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Cardiospondylocarpofacial syndrome, 157800 Frontometaphyseal dysplasia 2, 617137 Tags
Green Green List (high evidence)	MAPK8IP3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Neurodevelopmental disorder with or without variable brain abnormalities, 618443 Tags
Green Green List (high evidence)	MAPKBP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Nephronophthisis 20, 617271 Tags
Green Green List (high evidence)	MAPRE2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Symmetric circumferential skin creases, congenital, 2, 616734 Tags
Green Green List (high evidence)	MAPT	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Pick disease, 172700 Supranuclear palsy, progressive, 601104 Supranuclear palsy, progressive atypical, 260540 Dementia, frontotemporal, with or without parkinsonism, 600274 Tags
Green Green List (high evidence)	MARS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes ?Combined oxidative phosphorylation deficiency 25, 616430 Spastic ataxia 3, autosomal recessive, 611390 Tags
Green Green List (high evidence)	MARVELD2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Deafness, autosomal recessive 49, 610153 Tags
Green Green List (high evidence)	MASP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes 3MC syndrome 1, 257920 Tags
Green Green List (high evidence)	MASP2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes MASP2 deficiency, 613791 Tags
Green Green List (high evidence)	MAST1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, 618273 Tags
Green Green List (high evidence)	MAT1A	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Methionine adenosyltransferase deficiency, autosomal recessive, 250850 Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 Tags
Green Green List (high evidence)	MATN3	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epiphyseal dysplasia, multiple, 5, 607078 ?Spondyloepimetaphyseal dysplasia, 608728 Tags
Green Green List (high evidence)	MATR3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Amyotrophic lateral sclerosis 21, 606070 Tags
Green Green List (high evidence)	MBD5	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mental retardation, autosomal dominant 1, 156200 Tags
Green Green List (high evidence)	MBOAT7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mental retardation, autosomal recessive 57, 617188 Tags
Green Green List (high evidence)	MBTPS2	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Keratosis follicularis spinulosa decalvans, X-linked, 308800 Osteogenesis imperfecta, type XIX, 301014 ?Olmsted syndrome, X-linked, 300918 IFAP syndrome with or without BRESHECK syndrome, 308205 Tags
Green Green List (high evidence)	MC2R	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 Tags
Green Green List (high evidence)	MCCC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 Tags
Green Green List (high evidence)	MCCC2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 Tags
Green Green List (high evidence)	MCEE	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Methylmalonyl-CoA epimerase deficiency, 251120 Tags
Green Green List (high evidence)	MCFD2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Factor V and factor VIII, combined deficiency of, 613625 Tags
Green Green List (high evidence)	MCM3AP	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124 Tags
Green Green List (high evidence)	MCM4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Immunodeficiency 54, 609981 Tags
Green Green List (high evidence)	MCOLN1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mucolipidosis IV, 252650 Tags
Green Green List (high evidence)	MCPH1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Microcephaly 1, primary, autosomal recessive, 251200 Tags
Green Green List (high evidence)	MDH2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epileptic encephalopathy, early infantile, 51, 617339 Tags
Green Green List (high evidence)	MECOM	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738 Tags
Green Green List (high evidence)	MECP2	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 Rett syndrome, 312750 Mental retardation, X-linked syndromic, Lubs type, 300260 Rett syndrome, atypical, 312750 Rett syndrome, preserved speech variant, 312750 Encephalopathy, neonatal severe, 300673 Mental retardation, X-linked, syndromic 13, 300055 Tags
Green Green List (high evidence)	MECR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282 Tags
Green Green List (high evidence)	MED12	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Ohdo syndrome, X-linked, 300895 Opitz-Kaveggia syndrome, 305450 Lujan-Fryns syndrome, 309520 Tags
Green Green List (high evidence)	MED13L	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mental retardation and distinctive facial features with or without cardiac defects, 616789 Transposition of the great arteries, dextro-looped 1, 608808 Tags
Green Green List (high evidence)	MED17	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 Tags
Green Green List (high evidence)	MED23	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mental retardation, autosomal recessive 18, 614249 Tags
Green Green List (high evidence)	MEF2C	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443 Chromosome 5q14.3 deletion syndrome, 613443 Tags
Green Green List (high evidence)	MEFV	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Familial Mediterranean fever, AD, OMIM:134610 Familial Mediterranean fever, AR, OMIM:249100 Tags
Green Green List (high evidence)	MEGF10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, 614399 Tags
Green Green List (high evidence)	MEGF8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Carpenter syndrome 2, 614976 Tags
Green Green List (high evidence)	MEIS2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Cleft palate, cardiac defects, and mental retardation, OMIM:600987 Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies, MONDO:0010970 Tags
Green Green List (high evidence)	MEOX1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Klippel-Feil syndrome 2, 214300 Tags
Green Green List (high evidence)	MESP2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spondylocostal dysostosis 2, autosomal recessive, 608681 Tags
Green Green List (high evidence)	METTL23	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mental retardation, autosomal recessive 44, 615942 Tags
Green Green List (high evidence)	MFF	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086 Tags
Green Green List (high evidence)	MFN2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hereditary motor and sensory neuropathy VIA, 601152 Charcot-Marie-Tooth disease, axonal, type 2A2A, 609260 Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 Tags
Green Green List (high evidence)	MFRP	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Microphthalmia, isolated 5, 611040 Nanophthalmos 2, 609549 Tags
Green Green List (high evidence)	MFSD2A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities, 616486 Tags
Green Green List (high evidence)	MFSD8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Ceroid lipofuscinosis, neuronal, 7, 610951 Macular dystrophy with central cone involvement, 616170 Tags
Green Green List (high evidence)	MGAT2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Congenital disorder of glycosylation, type IIa, 212066 Tags
Green Green List (high evidence)	MGME1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mitochondrial DNA depletion syndrome 11, 615084 Tags
Green Green List (high evidence)	MGP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Keutel syndrome, 245150 Tags
Green Green List (high evidence)	MICU1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Myopathy with extrapyramidal signs, 615673 Tags
Green Green List (high evidence)	MID1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Opitz GBBB syndrome, type I, 300000 Tags
Green Green List (high evidence)	MIPEP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Combined oxidative phosphorylation deficiency 31, 617228 Tags
Green Green List (high evidence)	MITF	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Waardenburg syndrome, type 2A, 193510 Tietz albinism-deafness syndrome, 103500 Waardenburg syndrome/ocular albinism, digenic, 103470 COMMAD syndrome, 617306 Tags
Green Green List (high evidence)	MKKS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes McKusick-Kaufman syndrome, 236700 Bardet-Biedl syndrome 6, 605231 Tags
Green Green List (high evidence)	MKS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Bardet-Biedl syndrome 13, 615990 Joubert syndrome 28, 617121 Meckel syndrome 1, 249000 Tags
Green Green List (high evidence)	MLC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Megalencephalic leukoencephalopathy with subcortical cysts, 604004 Tags
Green Green List (high evidence)	MLYCD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Malonyl-CoA decarboxylase deficiency, 248360 Tags
Green Green List (high evidence)	MMAA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Methylmalonic aciduria, vitamin B12-responsive, 251100 Tags
Green Green List (high evidence)	MMAB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 Tags
Green Green List (high evidence)	MMACHC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Methylmalonic aciduria and homocystinuria, cblC type, 277400 Tags
Green Green List (high evidence)	MMADHC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Homocystinuria, cblD type, variant 1, 277410 Methylmalonic aciduria, cblD type, variant 2, 277410 Methylmalonic aciduria and homocystinuria, cblD type, 277410 Tags
Green Green List (high evidence)	MMP13	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Metaphyseal dysplasia, Spahr type, 250400 Spondyloepimetaphyseal dysplasia, Missouri type, 602111 Metaphyseal anadysplasia 1, 602111 Tags
Green Green List (high evidence)	MMP2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Multicentric osteolysis, nodulosis, and arthropathy, 259600 Tags
Green Green List (high evidence)	MMP21	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Heterotaxy, visceral, 7, autosomal, 616749 Tags
Green Green List (high evidence)	MNX1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Currarino syndrome, 176450 Tags
Green Green List (high evidence)	MOCS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Molybdenum cofactor deficiency A, 252150 Tags
Green Green List (high evidence)	MOCS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Molybdenum cofactor deficiency B, 252160 Tags
Green Green List (high evidence)	MOGS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Congenital disorder of glycosylation, type IIb, 606056 Tags
Green Green List (high evidence)	MORC2	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 2Z, 616688 Tags
Green Green List (high evidence)	MPC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mitochondrial pyruvate carrier deficiency, 614741 Tags
Green Green List (high evidence)	MPDU1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Congenital disorder of glycosylation, type If, 609180 Tags
Green Green List (high evidence)	MPI	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Congenital disorder of glycosylation, type Ib, OMIM:602579 MPI-CDG, MONDO:0011257 Tags
Green Green List (high evidence)	MPIG6B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Thrombocytopenia, anemia, and myelofibrosis, 617441 Tags
Green Green List (high evidence)	MPL	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Thrombocytopenia, congenital amegakaryocytic, 604498 Thrombocythemia 2, 601977 Tags
Green Green List (high evidence)	MPLKIP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Trichothiodystrophy 4, nonphotosensitive, 234050 Tags
Green Green List (high evidence)	MPO	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Myeloperoxidase deficiency, 254600 Tags
Green Green List (high evidence)	MPV17	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Charcot-Marie-Tooth disease, axonal, type 2EE, 618400 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 Tags
Green Green List (high evidence)	MPZ	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 2I, 607677 Dejerine-Sottas disease, 145900 Charcot-Marie-Tooth disease, type 2J, 607736 Roussy-Levy syndrome, 180800 Charcot-Marie-Tooth disease, type 1B, 118200 Hypomyelinating neuropathy, congenital, 2, 618184 Charcot-Marie-Tooth disease, dominant intermediate D, 607791 Tags
Green Green List (high evidence)	MRE11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Ataxia-telangiectasia-like disorder 1, 604391 Tags
Green Green List (high evidence)	MRPL3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Combined oxidative phosphorylation deficiency 9, 614582 Tags
Green Green List (high evidence)	MRPS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Combined oxidative phosphorylation deficiency 36, 617950 Tags
Green Green List (high evidence)	MRPS22	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Ovarian dysgenesis 7, 618117 Combined oxidative phosphorylation deficiency 5, 611719 Tags
Green Green List (high evidence)	MRPS34	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Combined oxidative phosphorylation deficiency 32, 617664 Tags
Green Green List (high evidence)	MS4A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Immunodeficiency, common variable, 5, 613495 Tags
Green Green List (high evidence)	MSH6	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mismatch repair cancer syndrome, 276300 Colorectal cancer, hereditary nonpolyposis, type 5, 614350 Tags
Green Green List (high evidence)	MSL3	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, 36, 301032 Tags
Green Green List (high evidence)	MSMO1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834 Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793 Tags
Green Green List (high evidence)	MSN	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Immunodeficiency 50, 300988 Tags
Green Green List (high evidence)	MSTO1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Myopathy, mitochondrial, and ataxia, 617675 Tags
Green Green List (high evidence)	MSX1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Tooth agenesis, selective, 1, with or without orofacial cleft, 106600 Ectodermal dysplasia 3, Witkop type, 189500 Orofacial cleft 5, 608874 Tags
Green Green List (high evidence)	MSX2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Parietal foramina with cleidocranial dysplasia, 168550 Craniosynostosis 2, 604757 Parietal foramina 1, 168500 Tags
Green Green List (high evidence)	MT-ATP6	1 review	MITOCHONDRIAL	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes LEBER OPTIC ATROPHY LEIGH SYNDROME NARP SYNDROME SEIZURES AND LACTIC ACIDOSIS BILATERAL STRIATAL NECROSIS Tags
Green Green List (high evidence)	MT-ATP8	1 review	MITOCHONDRIAL	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY TO CARDIOMYOPATHY, INFANTILE HYPERTROPHIC CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY Tags
Green Green List (high evidence)	MT-CO1	1 review	MITOCHONDRIAL	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes LEBER OPTIC ATROPHY CYTOCHROME c OXIDASE DEFICIENCY MYOGLOBINURIA, RECURRENT CYTOCHROME c OXIDASE I DEFICIENCY SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC Tags
Green Green List (high evidence)	MT-CO2	1 review	MITOCHONDRIAL	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes CYTOCHROME c OXIDASE DEFICIENCY Tags
Green Green List (high evidence)	MT-CO3	1 review	MITOCHONDRIAL	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes LEBER OPTIC ATROPHY SEIZURES AND LACTIC ACIDOSIS MITOCHONDRIAL COMPLEX IV DEFICIENCY Tags
Green Green List (high evidence)	MT-CYB	1 review	MITOCHONDRIAL	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes PARKINSONISM/MELAS OVERLAP SYNDROME CARDIOMYOPATHY, INFANTILE HISTIOCYTOID LEBER OPTIC ATROPHY EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA EXERCISE INTOLERANCE ENCEPHALOMYOPATHY, MITOCHONDRIAL MULTISYSTEM DISORDER Tags
Green Green List (high evidence)	MT-ND1	1 review	MITOCHONDRIAL	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes MELAS LEBER OPTIC ATROPHY MITOCHONDRIAL COMPLEX I DEFICIENCY ALZHEIMER DISEASE SIDS DYSTONIA, ADULT-ONSET Tags
Green Green List (high evidence)	MT-ND2	1 review	MITOCHONDRIAL	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes LEBER OPTIC ATROPHY MITOCHONDRIAL COMPLEX I DEFICIENCY LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY Tags
Green Green List (high evidence)	MT-ND3	1 review	MITOCHONDRIAL	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes MITOCHONDRIAL COMPLEX I DEFICIENCY LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY Tags
Green Green List (high evidence)	MT-ND4	1 review	MITOCHONDRIAL	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes LEBER OPTIC ATROPHY LEBER OPTIC ATROPHY AND DYSTONIA MITOCHONDRIAL COMPLEX I DEFICIENCY MELAS SYNDROME Tags
Green Green List (high evidence)	MT-ND4L	1 review	MITOCHONDRIAL	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes LEBER OPTIC ATROPHY Tags
Green Green List (high evidence)	MT-ND5	1 review	MITOCHONDRIAL	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes LEBER OPTIC ATROPHY LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY MERRF SYNDROME MELAS SYNDROME Tags
Green Green List (high evidence)	MT-ND6	1 review	MITOCHONDRIAL	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY LEBER OPTIC ATROPHY LEBER OPTIC ATROPHY AND DYSTONIA MELAS SYNDROME STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA Tags
Green Green List (high evidence)	MT-RNR1	1 review	MITOCHONDRIAL	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL CARDIOMYOPATHY, RESTRICTIVE DEAFNESS, AMINOGLYCOSIDE-INDUCED AUDITORY NEUROPATHY Tags
Green Green List (high evidence)	MT-TA	1 review	MITOCHONDRIAL	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes MYOTONIC DYSTROPHY-LIKE MYOPATHY MITOCHONDRIAL MYOPATHY Tags
Green Green List (high evidence)	MT-TC	1 review	MITOCHONDRIAL	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes DYSTONIA, MITOCHONDRIAL MELAS SYNDROME Tags
Green Green List (high evidence)	MT-TD	1 review	MITOCHONDRIAL	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes MITOCHONDRIAL MYOPATHY, ISOLATED Tags
Green Green List (high evidence)	MT-TE	1 review	MITOCHONDRIAL	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT DIABETES AND DEAFNESS, MATERNALLY INHERITED Tags
Green Green List (high evidence)	MT-TF	1 review	MITOCHONDRIAL	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes MYOPATHY, MITOCHONDRIAL, LATE-ONSET EPILEPSY, MITOCHONDRIAL NEPHROPATHY, TUBULOINTERSTITIAL ENCEPHALOPATHY, MITOCHONDRIAL MELAS SYNDROME MERRF SYNDROME Tags
Green Green List (high evidence)	MT-TG	1 review	MITOCHONDRIAL	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes EXERCISE INTOLERANCE CARDIOMYOPATHY, HYPERTROPHIC SUDDEN DEATH Tags
Green Green List (high evidence)	MT-TH	1 review	MITOCHONDRIAL	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL PIGMENTARY RETINOPATHY AND SENSORINEURAL DEAFNESS CARDIOMYOPATHY, IDIOPATHIC DILATED, MITOCHONDRIAL MERRF/MELAS OVERLAP SYNDROME Tags
Green Green List (high evidence)	MT-TI	1 review	MITOCHONDRIAL	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC HYPERTENSION, HYPERCHOLESTEROLEMIA, AND HYPOMAGNESEMIA, MITOCHONDRIAL ENCEPHALOPATHY, FAMILIAL PROGRESSIVE NECROTIZING CARDIOMYOPATHY, FATAL CARDIOMYOPATHY, FATAL INFANTILE MULTISYSTEM DISORDER Tags
Green Green List (high evidence)	MT-TK	1 review	MITOCHONDRIAL	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes DIABETES AND DEAFNESS, MATERNALLY INHERITED PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOCLONUS MERRF SYNDROME MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME Tags
Green Green List (high evidence)	MT-TL1	1 review	MITOCHONDRIAL	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes MELAS SYNDROME Tags
Green Green List (high evidence)	MT-TL2	1 review	MITOCHONDRIAL	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes MYOPATHY, MITOCHONDRIAL ENCEPHALOMYOPATHY, MITOCHONDRIAL CARDIOMYOPATHY, MITOCHONDRIAL Tags
Green Green List (high evidence)	MT-TM	1 review	MITOCHONDRIAL	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes MYOPATHY, MITOCHONDRIAL Tags
Green Green List (high evidence)	MT-TN	1 review	MITOCHONDRIAL	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 2 OPHTHALMOPLEGIA, ISOLATED Tags
Green Green List (high evidence)	MT-TP	1 review	MITOCHONDRIAL	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes MYOPATHY MERFF SYNDROME Tags
Green Green List (high evidence)	MT-TQ	1 review	MITOCHONDRIAL	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes MYOPATHY SENSORINEURAL DEAFNESS AND MIGRAINE MELAS SYNDROME Tags
Green Green List (high evidence)	MT-TR	1 review	MITOCHONDRIAL	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes ENCEPHALOMYOPATHY, MITOCHONDRIAL Tags
Green Green List (high evidence)	MT-TS1	1 review	MITOCHONDRIAL	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes MITOCHONDRIAL CYTOCHROME c OXIDASE DEFICIENCY KERATODERMA, PALMOPLANTAR, WITH DEAFNESS MERRF/MELAS OVERLAP SYNDROME Tags
Green Green List (high evidence)	MT-TS2	1 review	MITOCHONDRIAL	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes CEREBELLAR ATAXIA, CATARACT, AND DIABETES MELLITUS MERRF/MELAS OVERLAP SYNDROME Tags
Green Green List (high evidence)	MT-TV	1 review	MITOCHONDRIAL	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes NEONATAL DEATH ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS Tags
Green Green List (high evidence)	MT-TW	1 review	MITOCHONDRIAL	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes MYOPATHY, MITOCHONDRIAL ENCEPHALOPATHY, MITOCHONDRIAL NEUROGASTROINTESTINAL SYNDROME, MITOCHONDRIAL ENCEPHALOCARDIOMYOPATHY, MITOCHONDRIAL ENCEPHALOMYOPATHY, MITOCHONDRIAL Tags
Green Green List (high evidence)	MT-TY	1 review	MITOCHONDRIAL	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND DILATED CARDIOMYOPATHY CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOPATHY, SOMATIC EXERCISE INTOLERANCE AND COMPLEX III DEFICIENCY, SOMATIC Tags
Green Green List (high evidence)	MTFMT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Combined oxidative phosphorylation deficiency 15 OMIM:614947 combined oxidative phosphorylation defect type 15 MONDO:0013987 Mitochondrial complex I deficiency, nuclear type 27 OMIM:618248 mitochondrial complex 1 deficiency, nuclear type 27 MONDO:0032631 Tags
Green Green List (high evidence)	MTHFD1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 Tags
Green Green List (high evidence)	MTHFR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Homocystinuria due to MTHFR deficiency, 236250 Tags
Green Green List (high evidence)	MTM1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Myotubular myopathy, X-linked, 310400 Tags
Green Green List (high evidence)	MTMR2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Charcot-Marie-Tooth disease, type 4B1, 601382 Tags
Green Green List (high evidence)	MTO1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Combined oxidative phosphorylation deficiency 10, 614702 Tags
Green Green List (high evidence)	MTOR	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Smith-Kingsmore syndrome, 616638 Tags
Green Green List (high evidence)	MTR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 Tags
Green Green List (high evidence)	MTRR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Homocystinuria-megaloblastic anemia, cbl E type, 236270 Tags
Green Green List (high evidence)	MTTP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Abetalipoproteinemia, 200100 Tags
Green Green List (high evidence)	MUC1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Medullary cystic kidney disease 1, 174000 Tags
Green Green List (high evidence)	MUSK	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Fetal akinesia deformation sequence 1, 208150 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 Tags
Green Green List (high evidence)	MUT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Methylmalonic aciduria, mut(0) type, 251000 Tags new-gene-name
Green Green List (high evidence)	MVK	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hyper-IgD syndrome, OMIM:260920 Mevalonic aciduria, OMIM:610377 Porokeratosis 3, multiple types, OMIM:175900 Tags
Green Green List (high evidence)	MYBPC1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Arthrogryposis, distal, type 1B, 614335 Lethal congenital contracture syndrome 4, 614915 Myopathy, congenital, with tremor, 618524 Tags
Green Green List (high evidence)	MYCN	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Feingold syndrome 1, 164280 Tags
Green Green List (high evidence)	MYD88	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260 Tags
Green Green List (high evidence)	MYH10	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes aqueductal stenosis MYH10-related Multiple congenital anomalies Bilateral ventriculomegaly Tags
Green Green List (high evidence)	MYH14	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 Deafness, autosomal dominant 4A, 600652 Tags
Green Green List (high evidence)	MYH2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Proximal myopathy and ophthalmoplegia, OMIM:605637 Myopathy, proximal, and ophthalmoplegia, MONDO:0011577 Tags
Green Green List (high evidence)	MYH3	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Contractures, pterygia, and variable skeletal fusions syndrome 1B, 618469 Arthrogryposis, distal, type 2B3 (Sheldon-Hall), 618436 Arthrogryposis, distal, type 2A (Freeman-Sheldon), 193700 Contractures, pterygia, and variable skeletal fusions syndrome 1A, 178110 Tags
Green Green List (high evidence)	MYH6	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Cardiomyopathy, hypertrophic, 14, 613251 Cardiomyopathy, dilated, 1EE, 613252 Atrial septal defect 3, 614089 Tags
Green Green List (high evidence)	MYH7	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Laing distal myopathy, 160500 Myopathy, myosin storage, autosomal dominant, 608358 Myopathy, myosin storage, autosomal recessive, 255160 Cardiomyopathy, hypertrophic, 1, 192600 Left ventricular noncompaction 5, 613426 Scapuloperoneal syndrome, myopathic type, 181430 Cardiomyopathy, dilated, 1S, 613426 Tags
Green Green List (high evidence)	MYH8	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Carney complex variant, 608837 Trismus-pseudocamptodactyly syndrome, 158300 Tags
Green Green List (high evidence)	MYH9	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, 155100 Deafness, autosomal dominant 17, 603622 Tags
Green Green List (high evidence)	MYL1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Myopathy, congenital, with fast-twitch (type II) fiber atrophy, OMIM:618414 Congenital myopathy with reduced type 2 muscle fibers, MONDO:0034109 Tags
Green Green List (high evidence)	MYMK	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Carey-Fineman-Ziter syndrome, OMIM:254940 Carey-Fineman-Ziter syndrome, MONDO:0009700 Tags
Green Green List (high evidence)	MYO15A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Deafness, autosomal recessive 3, 600316 Tags
Green Green List (high evidence)	MYO18B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, 616549 Tags
Green Green List (high evidence)	MYO1E	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Glomerulosclerosis, focal segmental, 6, 614131 Tags
Green Green List (high evidence)	MYO3A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Deafness, autosomal recessive 30, 607101 Tags
Green Green List (high evidence)	MYO5A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Griscelli syndrome, type 1, 214450 Tags
Green Green List (high evidence)	MYO5B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Microvillus inclusion disease, 251850 Tags
Green Green List (high evidence)	MYO6	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy, 606346 Deafness, autosomal dominant 22, 606346 Deafness, autosomal recessive 37, 607821 Tags
Green Green List (high evidence)	MYO7A	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Usher syndrome, type 1B, 276900 Deafness, autosomal dominant 11, 601317 Deafness, autosomal recessive 2, 600060 Tags
Green Green List (high evidence)	MYOT	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Myopathy, spheroid body, 182920 Myopathy, myofibrillar, 3, 609200 Tags
Green Green List (high evidence)	MYRF	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Cardiac-urogenital syndrome, 618280 Encephalitis/encephalopathy, mild, with reversible myelin vacuolization, 618113 Tags
Green Green List (high evidence)	MYSM1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Bone marrow failure syndrome 4, 618116 Tags
Green Green List (high evidence)	MYT1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes OAVS/Goldenhar syndrome Oculo-auriculo-vertebral spectrum (OAVS) Tags
Green Green List (high evidence)	MYT1L	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mental retardation, autosomal dominant 39, 616521 Tags
Green Green List (high evidence)	NAA10	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 1, 309800 Ogden syndrome, 300855 Tags
Green Green List (high evidence)	NAA15	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mental retardation, autosomal dominant 50, 617787 Tags
Green Green List (high evidence)	NACC1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, 617393 Tags
Green Green List (high evidence)	NAGA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Schindler disease, type I, 609241 Kanzaki disease, 609242 Schindler disease, type III, 609241 Tags
Green Green List (high evidence)	NAGLU	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 2V, 616491 Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 Tags
Green Green List (high evidence)	NAGS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes N-acetylglutamate synthase deficiency, 237310 Tags
Green Green List (high evidence)	NALCN	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Congenital contractures of the limbs and face, hypotonia, and developmental delay, 616266 Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, 615419 Tags
Green Green List (high evidence)	NANS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spondyloepimetaphyseal dysplasia, Camera-Genevieve type, 610442 Tags
Green Green List (high evidence)	NARS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes ?Deafness, autosomal recessive 94, 618434 Combined oxidative phosphorylation deficiency 24, 616239 Tags
Green Green List (high evidence)	NAXE	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, OMIM:617186 Tags
Green Green List (high evidence)	NBAS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Infantile liver failure syndrome 2, 616483 Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 Tags
Green Green List (high evidence)	NBEA	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Seizures Global developmental delay Intellectual disability Tags
Green Green List (high evidence)	NBEAL2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Gray platelet syndrome, 139090 Tags
Green Green List (high evidence)	NBN	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Nijmegen breakage syndrome, 251260 Leukemia, acute lymphoblastic, 613065 Aplastic anemia, 609135 Tags
Green Green List (high evidence)	NCF1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Chronic granulomatous disease due to deficiency of NCF-1, 233700 Tags
Green Green List (high evidence)	NCF2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Chronic granulomatous disease due to deficiency of NCF-2, 233710 Tags
Green Green List (high evidence)	NDE1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Lissencephaly 4 (with microcephaly), 614019 ?Microhydranencephaly, 605013 Tags
Green Green List (high evidence)	NDP	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Norrie disease, 310600 Exudative vitreoretinopathy 2, X-linked, 305390 Tags
Green Green List (high evidence)	NDRG1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Charcot-Marie-Tooth disease, type 4D, 601455 Tags
Green Green List (high evidence)	NDST1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mental retardation, autosomal recessive 46, 616116 Tags
Green Green List (high evidence)	NDUFA1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mitochondrial complex I deficiency, nuclear type 12, 301020 Tags
Green Green List (high evidence)	NDUFA10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mitochondrial complex I deficiency, nuclear type 22, 618243 Tags
Green Green List (high evidence)	NDUFA11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mitochondrial complex I deficiency, nuclear type 14, 618236 Tags
Green Green List (high evidence)	NDUFA4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Isolated complex IV deficiency Tags
Green Green List (high evidence)	NDUFA6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mitochondrial complex I deficiency, nuclear type 33, 618253 Tags
Green Green List (high evidence)	NDUFA9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mitochondrial complex I deficiency, nuclear type 26, 618247 Tags
Green Green List (high evidence)	NDUFAF1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mitochondrial complex I deficiency, nuclear type 11, 618234 Tags
Green Green List (high evidence)	NDUFAF2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mitochondrial complex I deficiency, nuclear type 10, 618233 Tags
Green Green List (high evidence)	NDUFAF3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mitochondrial complex I deficiency, nuclear type 18, 618240 Tags
Green Green List (high evidence)	NDUFAF4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mitochondrial complex I deficiency, nuclear type 15, 618237 Tags
Green Green List (high evidence)	NDUFAF5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mitochondrial complex I deficiency, nuclear type 16, 618238 Tags
Green Green List (high evidence)	NDUFAF6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mitochondrial complex I deficiency, nuclear type 17, 618239 Tags
Green Green List (high evidence)	NDUFAF8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mitochondrial Tags
Green Green List (high evidence)	NDUFB11	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 3, 300952 ?Mitochondrial complex I deficiency, nuclear type 30, 301021 Tags
Green Green List (high evidence)	NDUFB3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mitochondrial complex I deficiency, nuclear type 25, 618246 Tags
Green Green List (high evidence)	NDUFB8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mitochondrial complex I deficiency, nuclear type 32, 618252 Tags
Green Green List (high evidence)	NDUFS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mitochondrial complex I deficiency, nuclear type 5, 618226 Tags
Green Green List (high evidence)	NDUFS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mitochondrial complex I deficiency, nuclear type 6, 618228 Tags
Green Green List (high evidence)	NDUFS3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mitochondrial complex I deficiency, nuclear type 8, 618230 Tags
Green Green List (high evidence)	NDUFS4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mitochondrial complex I deficiency, nuclear type 1, 252010 Tags
Green Green List (high evidence)	NDUFS6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mitochondrial complex I deficiency, nuclear type 9, 618232 Tags
Green Green List (high evidence)	NDUFS7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mitochondrial complex I deficiency, nuclear type 3, 618224 Tags
Green Green List (high evidence)	NDUFS8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mitochondrial complex I deficiency, nuclear type 2, 618222 Tags
Green Green List (high evidence)	NDUFV1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mitochondrial complex I deficiency, nuclear type 4, 618225 Tags
Green Green List (high evidence)	NDUFV2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mitochondrial complex I deficiency, nuclear type 7, 618229 Tags
Green Green List (high evidence)	NEB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Nemaline myopathy 2, autosomal recessive, 256030 Tags
Green Green List (high evidence)	NECTIN1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Orofacial cleft 7, 225060 Cleft lip/palate-ectodermal dysplasia syndrome, 225060 Tags
Green Green List (high evidence)	NECTIN4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Ectodermal dysplasia-syndactyly syndrome 1, 613573 Tags
Green Green List (high evidence)	NEDD4L	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Periventricular nodular heterotopia 7, 617201 Tags
Green Green List (high evidence)	NEFH	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 2CC, 616924 Tags
Green Green List (high evidence)	NEFL	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Charcot-Marie-Tooth disease, dominant intermediate G, 617882 Charcot-Marie-Tooth disease, type 2E, 607684 Charcot-Marie-Tooth disease, type 1F, 607734 Tags
Green Green List (high evidence)	NEK1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 Tags
Green Green List (high evidence)	NEK8	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes ?Nephronophthisis 9, 613824 Renal-hepatic-pancreatic dysplasia 2, 615415 Tags
Green Green List (high evidence)	NEU1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Sialidosis, type I, 256550 Sialidosis, type II, 256550 Tags
Green Green List (high evidence)	NEXMIF	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 98, 300912 Tags
Green Green List (high evidence)	NF1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Watson syndrome, 193520 Neurofibromatosis-Noonan syndrome, 601321 Neurofibromatosis, familial spinal, 162210 Neurofibromatosis, type 1, 162200 Leukemia, juvenile myelomonocytic, 607785 Tags
Green Green List (high evidence)	NF2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Neurofibromatosis, type 2, 101000 Tags
Green Green List (high evidence)	NFASC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Neurodevelopmental disorder with central and peripheral motor dysfunction, OMIM:618356 neurodevelopmental disorder with central and peripheral motor dysfunction, MONDO:003269 Tags
Green Green List (high evidence)	NFE2L2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Immunodeficiency, developmental delay, and hypohomocysteinemia, 617744 Tags
Green Green List (high evidence)	NFIA	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Brain malformations with or without urinary tract defects, 613735 Tags
Green Green List (high evidence)	NFIX	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Sotos syndrome 2, 614753 Marshall-Smith syndrome, 602535 Tags
Green Green List (high evidence)	NFKB1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Immunodeficiency, common variable, 12, 616576 Tags
Green Green List (high evidence)	NFKB2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Immunodeficiency, common variable, 10, 615577 Tags
Green Green List (high evidence)	NFKBIA	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Ectodermal dysplasia and immunodeficiency 2, 612132 Tags
Green Green List (high evidence)	NFU1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Multiple mitochondrial dysfunctions syndrome 1, 605711 Tags
Green Green List (high evidence)	NGLY1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Congenital disorder of deglycosylation, 615273 Tags
Green Green List (high evidence)	NHEJ1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, 611291 Tags
Green Green List (high evidence)	NHLRC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epilepsy, progressive myoclonic 2B (Lafora), 254780 Tags
Green Green List (high evidence)	NHP2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Dyskeratosis congenita, autosomal recessive 2, 613987 Tags
Green Green List (high evidence)	NHS	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 Nance-Horan syndrome, 302350 Cataract 40, X-linked, 302200 Tags
Green Green List (high evidence)	NIPA1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spastic paraplegia 6, autosomal dominant, 600363 Tags
Green Green List (high evidence)	NIPAL4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Ichthyosis, congenital, autosomal recessive 6, 612281 Tags
Green Green List (high evidence)	NIPBL	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Cornelia de Lange syndrome 1, 122470 Tags
Green Green List (high evidence)	NKX2-1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Chorea, hereditary benign, 118700 Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 Tags
Green Green List (high evidence)	NKX2-5	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Tetralogy of Fallot, 187500 Conotruncal heart malformations, variable, 217095 Ventricular septal defect 3, 614432 Hypothyroidism, congenital nongoitrous, 5, 225250 Hypoplastic left heart syndrome 2, 614435 Atrial septal defect 7, with or without AV conduction defects, 108900 Tags
Green Green List (high evidence)	NKX3-2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 Tags
Green Green List (high evidence)	NKX6-2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 Tags
Green Green List (high evidence)	NLGN3	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 {Autism susceptibility, X-linked 1}, 300425 {Asperger syndrome susceptibility, X-linked 1}, 300494 Tags
Green Green List (high evidence)	NLRC4	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Autoinflammation with infantile enterocolitis, OMIM:616050 ?Familial cold autoinflammatory syndrome 4, OMIM:616115 Tags
Green Green List (high evidence)	NLRP12	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Familial cold autoinflammatory syndrome 2, OMIM:611762 Tags
Green Green List (high evidence)	NLRP3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes CINCA syndrome, OMIM:607115 Deafness, autosomal dominant 34, with or without inflammation, OMIM:617772 Familial cold inflammatory syndrome 1, OMIM:120100 Muckle-Wells syndrome, OMIM:191900 Keratoendothelitis fugax hereditaria, OMIM:148200 Tags
Green Green List (high evidence)	NMNAT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Leber congenital amaurosis 9, 608553 Tags
Green Green List (high evidence)	NOD2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Blau syndrome, OMIM:186580 {Inflammatory bowel disease 1, Crohn disease}, OMIM:266600 {Yao syndrome}, OMIM:617321 Tags
Green Green List (high evidence)	NODAL	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Heterotaxy, visceral, 5, 270100 Tags
Green Green List (high evidence)	NOG	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Tarsal-carpal coalition syndrome, 186570 Symphalangism, proximal, 1A, 185800 Brachydactyly, type B2, 611377 Stapes ankylosis with broad thumbs and toes, 184460 Multiple synostoses syndrome 1, 186500 Tags
Green Green List (high evidence)	NONO	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 34, 300967 Tags
Green Green List (high evidence)	NOP10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Dyskeratosis congenita, autosomal recessive 1, 224230 Tags
Green Green List (high evidence)	NOP56	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spinocerebellar ataxia 36, 614153 Tags
Green Green List (high evidence)	NOTCH1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Adams-Oliver syndrome 5, 616028 Aortic valve disease 1, 109730 Tags
Green Green List (high evidence)	NOTCH2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Alagille syndrome 2, 610205 Hajdu-Cheney syndrome, 102500 Tags
Green Green List (high evidence)	NOTCH3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310 Lateral meningocele syndrome, 130720 ?Myofibromatosis, infantile 2, 615293 Tags
Green Green List (high evidence)	NPC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Niemann-Pick disease, type D, 257220 Niemann-Pick disease, type C1, 257220 Tags
Green Green List (high evidence)	NPC2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Niemann-pick disease, type C2, 607625 Tags
Green Green List (high evidence)	NPHP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Nephronophthisis 1, juvenile, 256100 Senior-Loken syndrome-1, 266900 Joubert syndrome 4, 609583 Tags
Green Green List (high evidence)	NPHP3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Meckel syndrome 7, 267010 Nephronophthisis 3, 604387 Renal-hepatic-pancreatic dysplasia 1, 208540 Tags
Green Green List (high evidence)	NPHP4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Nephronophthisis 4, 606966 Senior-Loken syndrome 4, 606996 Tags
Green Green List (high evidence)	NPHS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Nephrotic syndrome, type 1, 256300 Tags
Green Green List (high evidence)	NPHS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Nephrotic syndrome, type 2, 600995 Tags
Green Green List (high evidence)	NPR2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Short stature with nonspecific skeletal abnormalities, 616255 Epiphyseal chondrodysplasia, Miura type, 615923 Acromesomelic dysplasia, Maroteaux type, 602875 Tags
Green Green List (high evidence)	NPRL3	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 3, 617118 Tags
Green Green List (high evidence)	NR0B1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes 46XY sex reversal 2, dosage-sensitive, 300018 Adrenal hypoplasia, congenital, 300200 Tags
Green Green List (high evidence)	NR1H4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Cholestasis, progressive familial intrahepatic, 5, 617049 Tags
Green Green List (high evidence)	NR2F1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Bosch-Boonstra-Schaaf optic atrophy syndrome, 615722 Tags
Green Green List (high evidence)	NR2F2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Congenital heart defects, multiple types, 4, 615779 Tags
Green Green List (high evidence)	NR5A1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Premature ovarian failure 7, 612964 46, XX sex reversal 4, 617480 Spermatogenic failure 8, 613957 Adrenocortical insufficiency, 612964 46XY sex reversal 3, 612965 Tags
Green Green List (high evidence)	NRAS	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Noonan syndrome 6, 613224 Tags
Green Green List (high evidence)	NRXN1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Pitt-Hopkins-like syndrome 2, 614325 Tags
Green Green List (high evidence)	NSD1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Sotos syndrome 1, 117550 Leukemia, acute myeloid, 601626 Tags
Green Green List (high evidence)	NSD2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Rauch-Steindl syndrome, OMIM:619695 Rauch-Steindl syndrome, MONDO:0859219 Tags
Green Green List (high evidence)	NSDHL	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 CK syndrome, 300831 CHILD syndrome, 308050 Tags
Green Green List (high evidence)	NSMCE3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Lung disease, immunodeficiency, and chromosome breakage syndrome, 617241 Tags
Green Green List (high evidence)	NSUN2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mental retardation, autosomal recessive 5, 611091 Tags
Green Green List (high evidence)	NT5C2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spastic paraplegia 45, autosomal recessive, 613162 Tags
Green Green List (high evidence)	NT5C3A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Anemia, hemolytic, due to UMPH1 deficiency, 266120 Tags
Green Green List (high evidence)	NTRK1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Insensitivity to pain, congenital, with anhidrosis, 256800 Medullary thyroid carcinoma, familial, 155240 Tags
Green Green List (high evidence)	NTRK2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Obesity, hyperphagia, and developmental delay, 613886 Epileptic encephalopathy, early infantile, 58, 617830 Tags
Green Green List (high evidence)	NUBPL	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mitochondrial complex I deficiency, nuclear type 21, 618242 Tags
Green Green List (high evidence)	NUP107	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Nephrotic syndrome, type 11, 616730 ?Ovarian dysgenesis 6, 618078 Galloway-Mowat syndrome 7, 618348 Tags
Green Green List (high evidence)	NUP93	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Nephrotic syndrome, type 12, 616892 Tags
Green Green List (high evidence)	NUS1	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 1aa, 617082 Mental retardation, autosomal dominant 55, with seizures, 617831 Tags
Green Green List (high evidence)	NYX	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Night blindness, congenital stationary (complete), 1A, X-linked, 310500 Tags
Green Green List (high evidence)	OAT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 Tags
Green Green List (high evidence)	OBSL1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes 3-M syndrome 2, 612921 Tags
Green Green List (high evidence)	OCA2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Albinism, oculocutaneous, type II, 203200 Albinism, brown oculocutaneous, 203200 Tags
Green Green List (high evidence)	OCLN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Pseudo-TORCH syndrome 1, 251290 Tags
Green Green List (high evidence)	OCRL	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Dent disease 2, 300555 Lowe syndrome, 309000 Tags
Green Green List (high evidence)	ODC1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Global developmental delay Ectodermal dysplasia Alopecia Intellectual disability Macrocephaly Tags
Green Green List (high evidence)	OFD1	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 Joubert syndrome 10, 300804 ?Retinitis pigmentosa 23, 300424 Simpson-Golabi-Behmel syndrome, type 2, 300209 Orofaciodigital syndrome I, 311200 Tags
Green Green List (high evidence)	OGT	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 106, 300997 Tags
Green Green List (high evidence)	OPA1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Behr syndrome, 210000 Optic atrophy 1, 165500 ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), 616896 Optic atrophy plus syndrome, 125250 Tags
Green Green List (high evidence)	OPA3	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes 3-methylglutaconic aciduria, type III, 258501 Optic atrophy 3 with cataract, 165300 Tags
Green Green List (high evidence)	OPHN1	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, with cerebellar hypoplasia and distinctive facial appearance, 300486 Tags
Green Green List (high evidence)	ORAI1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Immunodeficiency 9, 612782 Myopathy, tubular aggregate, 2, 615883 Tags
Green Green List (high evidence)	ORC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Meier-Gorlin syndrome 1, 224690 Tags
Green Green List (high evidence)	ORC4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Meier-Gorlin syndrome 2, 613800 Tags
Green Green List (high evidence)	ORC6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Meier-Gorlin syndrome 3, 613803 Tags
Green Green List (high evidence)	OSGEP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Galloway-Mowat syndrome 3, 617729 Tags
Green Green List (high evidence)	OSMR	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Amyloidosis, primary localized cutaneous, 1, 105250 Tags
Green Green List (high evidence)	OSTM1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Osteopetrosis, autosomal recessive 5, 259720 Tags
Green Green List (high evidence)	OTC	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Ornithine transcarbamylase deficiency, 311250 Tags
Green Green List (high evidence)	OTOA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Deafness, autosomal recessive 22, 607039 Tags
Green Green List (high evidence)	OTOF	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Deafness, autosomal recessive 9, 601071 Auditory neuropathy, autosomal recessive, 1, 601071 Tags
Green Green List (high evidence)	OTOGL	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Deafness, autosomal recessive 84B, 614944 Tags
Green Green List (high evidence)	OTUD6B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452 Tags
Green Green List (high evidence)	OTULIN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099 Tags
Green Green List (high evidence)	OTX2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Microphthalmia, syndromic 5, 610125 Pituitary hormone deficiency, combined, 6, 613986 Retinal dystrophy, early-onset, with or without pituitary dysfunction, 610125 Tags
Green Green List (high evidence)	OXCT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 Tags
Green Green List (high evidence)	P2RY12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Bleeding disorder, platelet-type, 8, 609821 Tags
Green Green List (high evidence)	P3H1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Osteogenesis imperfecta, type VIII, 610915 Tags
Green Green List (high evidence)	P4HTM	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities, 618493 Tags
Green Green List (high evidence)	PACS1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Schuurs-Hoeijmakers syndrome, 615009 Tags
Green Green List (high evidence)	PACS2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epileptic encephalopathy, early infantile, 66, 618067 Tags
Green Green List (high evidence)	PAFAH1B1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Lissencephaly 1, 607432 Subcortical laminar heterotopia, 607432 Tags
Green Green List (high evidence)	PAH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Phenylketonuria, 261600 Tags
Green Green List (high evidence)	PAK3	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 30/47, 300558 Tags
Green Green List (high evidence)	PALB2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Fanconi anemia, complementation group N, 610832 Tags
Green Green List (high evidence)	PANK2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Neurodegeneration with brain iron accumulation 1, 234200 HARP syndrome, 607236 Tags
Green Green List (high evidence)	PAPPA2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Proportionate Short Stature, High Circulating IGF-I, IGFBP-3, and ALS, Mild Microcephaly, thin Long Bones and Decreased Bone Mineral Density Tags
Green Green List (high evidence)	PAPSS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 Tags
Green Green List (high evidence)	PARK7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Parkinson disease 7, autosomal recessive early-onset, 606324 Tags
Green Green List (high evidence)	PARN	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, 616371 Dyskeratosis congenita, autosomal recessive 6, 616353 Tags
Green Green List (high evidence)	PARS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epileptic encephalopathy, early infantile, 75, 618437 Tags
Green Green List (high evidence)	PAX2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Glomerulosclerosis, focal segmental, 7, 616002 Papillorenal syndrome, 120330 Tags
Green Green List (high evidence)	PAX3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Rhabdomyosarcoma 2, alveolar, 268220 Waardenburg syndrome, type 3, 148820 Craniofacial-deafness-hand syndrome, 122880 Waardenburg syndrome, type 1, 193500 Tags
Green Green List (high evidence)	PAX6	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Anterior segment dysgenesis 5, multiple subtypes, 604229 Keratitis, 148190 Cataract with late-onset corneal dystrophy, 106210 ?Coloboma, ocular, 120200 Optic nerve hypoplasia, 165550 ?Coloboma of optic nerve, 120430 Foveal hypoplasia 1, 136520 Aniridia, 106210 ?Morning glory disc anomaly, 120430 Tags
Green Green List (high evidence)	PAX8	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700 Tags
Green Green List (high evidence)	PAX9	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Tooth agenesis, selective, 3, 604625 Tags
Green Green List (high evidence)	PBX1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, 617641 Tags
Green Green List (high evidence)	PC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Pyruvate carboxylase deficiency, 266150 Tags
Green Green List (high evidence)	PCBD1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hyperphenylalaninemia, BH4-deficient, D, 264070 Tags
Green Green List (high evidence)	PCCA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Propionicacidemia, 606054 Tags
Green Green List (high evidence)	PCCB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Propionicacidemia, 606054 Tags
Green Green List (high evidence)	PCDH12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Diencephalic-mesencephalic junction dysplasia syndrome 1, 251280 Tags
Green Green List (high evidence)	PCDH15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Deafness, autosomal recessive 23, 609533 Usher syndrome, type 1F, 602083 Usher syndrome, type 1D/F digenic, 601067 Tags
Green Green List (high evidence)	PCDH19	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, 9, 300088 Tags
Green Green List (high evidence)	PCGF2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Turnpenny-Fry syndrome, 618371 Tags
Green Green List (high evidence)	PCNT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Microcephalic osteodysplastic primordial dwarfism, type II, 210720 Tags
Green Green List (high evidence)	PCSK9	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hypercholesterolemia, familial, 3, 603776 Tags
Green Green List (high evidence)	PCYT1A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 Tags
Green Green List (high evidence)	PDCD10	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Cerebral cavernous malformations 3, 603285 Tags
Green Green List (high evidence)	PDE10A	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Dyskinesia, limb and orofacial, infantile-onset, 616921 Striatal degeneration, autosomal dominant, 616922 Tags
Green Green List (high evidence)	PDE3A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hypertension and brachydactyly syndrome, 112410 Tags
Green Green List (high evidence)	PDE4D	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Acrodysostosis 2, with or without hormone resistance, 614613 Tags
Green Green List (high evidence)	PDE6G	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Retinitis pigmentosa 57, 613582 Tags
Green Green List (high evidence)	PDGFB	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Meningioma, SIS-related, 607174 Basal ganglia calcification, idiopathic, 5, 615483 Dermatofibrosarcoma protuberans, 607907 Tags
Green Green List (high evidence)	PDGFRB	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Myofibromatosis, infantile, 1, 228550 Kosaki overgrowth syndrome, 616592 Premature aging syndrome, Penttinen type, 601812 Basal ganglia calcification, idiopathic, 4, 615007 Myeloproliferative disorder with eosinophilia, 131440 Tags
Green Green List (high evidence)	PDHA1	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 Pyruvate dehydrogenase E1-alpha deficiency, 312170 Tags
Green Green List (high evidence)	PDHB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Pyruvate dehydrogenase E1-beta deficiency, 614111 Tags
Green Green List (high evidence)	PDHX	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Lacticacidemia due to PDX1 deficiency, 245349 Tags
Green Green List (high evidence)	PDP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Pyruvate dehydrogenase phosphatase deficiency, 608782 Tags
Green Green List (high evidence)	PDSS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Coenzyme Q10 deficiency, primary, 2, 614651 Tags
Green Green List (high evidence)	PDSS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Coenzyme Q10 deficiency, primary, 3, 614652 Tags
Green Green List (high evidence)	PDYN	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spinocerebellar ataxia 23, 610245 Tags
Green Green List (high evidence)	PEPD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Prolidase deficiency, 170100 Tags
Green Green List (high evidence)	PET100	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)	PEX1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Peroxisome biogenesis disorder 1A (Zellweger), 214100 Heimler syndrome 1, 234580 Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 Tags
Green Green List (high evidence)	PEX10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Peroxisome biogenesis disorder 6A (Zellweger), 614870 Peroxisome biogenesis disorder 6B, 614871 Tags
Green Green List (high evidence)	PEX12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Peroxisome biogenesis disorder 3A (Zellweger), 614859 Peroxisome biogenesis disorder 3B, 266510 Tags
Green Green List (high evidence)	PEX13	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Peroxisome biogenesis disorder 11B, 614885 Peroxisome biogenesis disorder 11A (Zellweger), 614883 Tags
Green Green List (high evidence)	PEX14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Peroxisome biogenesis disorder 13A (Zellweger), 614887 Tags
Green Green List (high evidence)	PEX16	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Peroxisome biogenesis disorder 8A (Zellweger), 614876 Peroxisome biogenesis disorder 8B, 614877 Tags
Green Green List (high evidence)	PEX19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Peroxisome biogenesis disorder 12A (Zellweger), 614886 Tags
Green Green List (high evidence)	PEX2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Peroxisome biogenesis disorder 5B, 614867 Peroxisome biogenesis disorder 5A (Zellweger), 614866 Tags
Green Green List (high evidence)	PEX26	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Peroxisome biogenesis disorder 7A (Zellweger), 614872 Peroxisome biogenesis disorder 7B, 614873 Tags
Green Green List (high evidence)	PEX3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes ?Peroxisome biogenesis disorder 10B, 617370 Peroxisome biogenesis disorder 10A (Zellweger), 614882 Tags
Green Green List (high evidence)	PEX5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Peroxisome biogenesis disorder 2A (Zellweger), 214110 Rhizomelic chondrodysplasia punctata, type 5, 616716 Peroxisome biogenesis disorder 2B, 202370 Tags
Green Green List (high evidence)	PEX6	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Heimler syndrome 2, 616617 Peroxisome biogenesis disorder 4B, 614863 Peroxisome biogenesis disorder 4A (Zellweger), 614862 Tags
Green Green List (high evidence)	PEX7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Rhizomelic chondrodysplasia punctata, type 1, 215100 Peroxisome biogenesis disorder 9B, 614879 Tags
Green Green List (high evidence)	PFKM	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Glycogen storage disease VII, 232800 Tags
Green Green List (high evidence)	PGAM2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Glycogen storage disease X, 261670 Tags
Green Green List (high evidence)	PGAP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mental retardation, autosomal recessive 42, 615802 Tags
Green Green List (high evidence)	PGAP2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hyperphosphatasia with mental retardation syndrome 3, 614207 Tags
Green Green List (high evidence)	PGAP3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hyperphosphatasia with mental retardation syndrome 4, 615716 Tags
Green Green List (high evidence)	PGK1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Phosphoglycerate kinase 1 deficiency, 300653 Tags
Green Green List (high evidence)	PGM1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Congenital disorder of glycosylation, type It, 614921 Tags
Green Green List (high evidence)	PGM3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Immunodeficiency 23, 615816 Tags
Green Green List (high evidence)	PHACTR1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epileptic encephalopathy, early infantile, 70, 618298 Tags
Green Green List (high evidence)	PHEX	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 Hypophosphatemic rickets, X-linked dominant, 307800 Tags
Green Green List (high evidence)	PHF21A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Potocki-Shaffer syndrome, 601224 PSS Intellectual disability Tags
Green Green List (high evidence)	PHF6	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Borjeson-Forssman-Lehmann syndrome, 301900 Tags
Green Green List (high evidence)	PHF8	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 syndrome, X-linked, Siderius type, 300263 Tags
Green Green List (high evidence)	PHGDH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Phosphoglycerate dehydrogenase deficiency, 601815 Neu-Laxova syndrome 1, 256520 Tags
Green Green List (high evidence)	PHIP	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Developmental delay, intellectual disability, obesity, and dysmorphism, 617991 Tags
Green Green List (high evidence)	PHKA1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Muscle glycogenosis, 300559 Tags
Green Green List (high evidence)	PHKA2	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Glycogen storage disease, type IXa1, 306000 Glycogen storage disease, type IXa2, 306000 Tags
Green Green List (high evidence)	PHKB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, 261750 Tags
Green Green List (high evidence)	PHKG2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Glycogen storage disease IXc, 613027 Cirrhosis due to liver phosphorylase kinase deficiency Tags
Green Green List (high evidence)	PHOX2B	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Neuroblastoma with Hirschsprung disease, 613013 Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 Tags
Green Green List (high evidence)	PHYH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Refsum disease, 266500 Tags
Green Green List (high evidence)	PIEZO1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 Lymphatic malformation 6, 616843 Tags
Green Green List (high evidence)	PIEZO2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes ?Marden-Walker syndrome, 248700 Arthrogryposis, distal, type 3, 114300 Arthrogryposis, distal, type 5, 108145 Arthrogryposis, distal, with impaired proprioception and touch, 617146 Tags
Green Green List (high evidence)	PIGA	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 Tags Skewed X-inactivation
Green Green List (high evidence)	PIGB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epileptic encephalopathy, early infantile, 80, 618580 Tags
Green Green List (high evidence)	PIGC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Glycosylphosphatidylinositol biosynthesis defect 16, 617816 Tags
Green Green List (high evidence)	PIGG	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mental retardation, autosomal recessive 53, 616917 Tags
Green Green List (high evidence)	PIGH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Glycosylphosphatidylinositol biosynthesis defect 17, 618010 Tags
Green Green List (high evidence)	PIGL	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes CHIME syndrome, 280000 Tags
Green Green List (high evidence)	PIGN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 Tags
Green Green List (high evidence)	PIGO	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hyperphosphatasia with mental retardation syndrome 2, 614749 Tags
Green Green List (high evidence)	PIGQ	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epileptic encephalopathy, early infantile, 77, 618548 Tags
Green Green List (high evidence)	PIGT	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes ?Paroxysmal nocturnal hemoglobinuria 2, 615399 Multiple congenital anomalies-hypotonia-seizures syndrome 3, 615398 Tags
Green Green List (high evidence)	PIGU	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Glycosylphosphatidylinositol biosynthesis defect 21, 618590 Tags
Green Green List (high evidence)	PIGV	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hyperphosphatasia with mental retardation syndrome 1, 239300 Tags
Green Green List (high evidence)	PIGW	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Glycosylphosphatidylinositol biosynthesis defect 11, 616025 Tags
Green Green List (high evidence)	PIK3CA	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes PIK3CA-related Overgrowth Spectrum Tags
Green Green List (high evidence)	PIK3CD	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Immunodeficiency 14, 615513 Tags
Green Green List (high evidence)	PIK3R1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Immunodeficiency 36, 616005 SHORT syndrome, 269880 ?Agammaglobulinemia 7, autosomal recessive, 615214 Tags
Green Green List (high evidence)	PIK3R2	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 1, 603387 Tags
Green Green List (high evidence)	PINK1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Parkinson disease 6, early onset, 605909 Tags
Green Green List (high evidence)	PITRM1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Ataxia Intellectual disability Tags
Green Green List (high evidence)	PITX1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, 119800 Liebenberg syndrome, 186550 Tags
Green Green List (high evidence)	PITX2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Axenfeld-Rieger syndrome, type 1, 180500 Anterior segment dysgenesis 4, 137600 Ring dermoid of cornea, 180550 Tags
Green Green List (high evidence)	PITX3	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Cataract 11, multiple types, 610623 Anterior segment dysgenesis 1, multiple subtypes, 107250 Cataract 11, syndromic, autosomal recessive, 610623 Tags
Green Green List (high evidence)	PKD1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Polycystic kidney disease 1, 173900 Tags
Green Green List (high evidence)	PKD1L1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Heterotaxy, visceral, 8, autosomal, 617205 Tags
Green Green List (high evidence)	PKD2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Polycystic kidney disease 2, 613095 Tags
Green Green List (high evidence)	PKHD1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Polycystic kidney disease 4, with or without hepatic disease, 263200 Tags
Green Green List (high evidence)	PKLR	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Adenosine triphosphate, elevated, of erythrocytes, 102900 Pyruvate kinase deficiency, 266200 Tags
Green Green List (high evidence)	PLA2G4A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Gastrointestinal ulceration, recurrent, with dysfunctional platelets, 618372 Tags
Green Green List (high evidence)	PLA2G6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Infantile neuroaxonal dystrophy 1, 256600 Parkinson disease 14, autosomal recessive, 612953 Neurodegeneration with brain iron accumulation 2B, 610217 Tags
Green Green List (high evidence)	PLAA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, 617527 Tags
Green Green List (high evidence)	PLAU	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Quebec platelet disorder, 601709 Tags
Green Green List (high evidence)	PLCB1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epileptic encephalopathy, early infantile, 12, 613722 Tags
Green Green List (high evidence)	PLCE1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Nephrotic syndrome, type 3, 610725 Tags
Green Green List (high evidence)	PLCG2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Autoinflammation, antibody deficiency, and immune dysregulation syndrome, OMIM:614878 Familial cold autoinflammatory syndrome 3, OMIM:614468 Tags
Green Green List (high evidence)	PLEC	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 17, 613723 Epidermolysis bullosa simplex with muscular dystrophy, 226670 ?Epidermolysis bullosa simplex with nail dystrophy, 616487 Epidermolysis bullosa simplex, Ogna type, 131950 Epidermolysis bullosa simplex with pyloric atresia, 612138 Tags
Green Green List (high evidence)	PLG	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Plasminogen deficiency, type I, 217090 Dysplasminogenemia, 217090 Tags
Green Green List (high evidence)	PLK4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171 Tags
Green Green List (high evidence)	PLOD1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Ehlers-Danlos syndrome, kyphoscoliotic type, 1, 225400 Tags
Green Green List (high evidence)	PLOD2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Bruck syndrome 2, 609220 Tags
Green Green List (high evidence)	PLP1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Pelizaeus-Merzbacher disease, 312080 Spastic paraplegia 2, X-linked, 312920 Tags
Green Green List (high evidence)	PLPBP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epilepsy, early-onset, vitamin B6-dependent, 617290 Tags
Green Green List (high evidence)	PLS3	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 Bone mineral density QTL18, osteoporosis, 300910 Tags
Green Green List (high evidence)	PMM2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Congenital disorder of glycosylation, type Ia, 212065 Tags
Green Green List (high evidence)	PMP22	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 1E, 118300 ?Neuropathy, inflammatory demyelinating, 139393 Dejerine-Sottas disease, 145900 Roussy-Levy syndrome, 180800 Neuropathy, recurrent, with pressure palsies, 162500 Charcot-Marie-Tooth disease, type 1A, 118220 Tags
Green Green List (high evidence)	PMPCA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spinocerebellar ataxia, autosomal recessive 2, 213200 Tags
Green Green List (high evidence)	PMPCB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Multiple mitochondrial dysfunctions syndrome 6, 617954 Tags
Green Green List (high evidence)	PMS2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Intellectual disability, developmental delay Tags
Green Green List (high evidence)	PNKD	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Paroxysmal nonkinesigenic dyskinesia 1, 118800 Tags
Green Green List (high evidence)	PNKP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Microcephaly, seizures, and developmental delay, 613402 Ataxia-oculomotor apraxia 4, 616267 Tags
Green Green List (high evidence)	PNP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 Tags
Green Green List (high evidence)	PNPLA6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes ?Laurence-Moon syndrome, 245800 Spastic paraplegia 39, autosomal recessive, 612020 Boucher-Neuhauser syndrome, 215470 Oliver-McFarlane syndrome, 275400 Tags
Green Green List (high evidence)	PNPO	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Pyridoxamine 5'-phosphate oxidase deficiency, 610090 Tags
Green Green List (high evidence)	PNPT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Combined oxidative phosphorylation deficiency 13, 614932 Deafness, autosomal recessive 70, 614934 Tags
Green Green List (high evidence)	POC1A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 Tags
Green Green List (high evidence)	POC1B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Cone-rod dystrophy 20, 615973 Tags
Green Green List (high evidence)	POGZ	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes White-Sutton syndrome, 616364 Tags
Green Green List (high evidence)	POLA1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Van Esch-O'Driscoll syndrome, 301030 Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220 Tags
Green Green List (high evidence)	POLD1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 Tags
Green Green List (high evidence)	POLE	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes IMAGE-I syndrome, 618336 FILS syndrome, 615139 Tags
Green Green List (high evidence)	POLG	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662 Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 Progressive external ophthalmoplegia, autosomal recessive 1, 258450 Progressive external ophthalmoplegia, autosomal dominant 1, 157640 Tags
Green Green List (high evidence)	POLG2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131 Mitochondrial DNA depletion syndrome 16 (hepatic type), 618528 Tags
Green Green List (high evidence)	POLH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Xeroderma pigmentosum, variant type, 278750 Tags
Green Green List (high evidence)	POLR1A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Acrofacial dysostosis, Cincinnati type, 616462 Tags
Green Green List (high evidence)	POLR1C	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Treacher Collins syndrome 3, 248390 Leukodystrophy, hypomyelinating, 11, 616494 Tags
Green Green List (high evidence)	POLR1D	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Treacher Collins syndrome 2, 613717 Tags
Green Green List (high evidence)	POLR2A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, 618603 Tags
Green Green List (high evidence)	POLR3A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 Wiedemann-Rautenstrauch syndrome, 264090 Tags
Green Green List (high evidence)	POLR3B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 Tags
Green Green List (high evidence)	POMGNT1	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, 3, 253280 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157 Retinitis pigmentosa 76, 617123 Tags
Green Green List (high evidence)	POMGNT2	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, 8, 614830 Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, 618135 Tags
Green Green List (high evidence)	POMK	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, 12, 615249 ?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, 616094 Tags
Green Green List (high evidence)	POMT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155 Tags
Green Green List (high evidence)	POMT2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156 Tags
Green Green List (high evidence)	POP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Anauxetic dysplasia 2, 617396 Tags
Green Green List (high evidence)	POR	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 Tags
Green Green List (high evidence)	PORCN	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 Focal dermal hypoplasia, 305600 Tags
Green Green List (high evidence)	POU1F1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Pituitary hormone deficiency, combined, 1, 613038 Tags
Green Green List (high evidence)	POU3F3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Snijders Blok-Fisher syndrome, 618604 Tags
Green Green List (high evidence)	POU3F4	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Deafness, X-linked 2, 304400 Tags
Green Green List (high evidence)	POU4F3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Deafness, autosomal dominant 15, 602459 Tags
Green Green List (high evidence)	PPA2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Sudden cardiac failure, infantile, 617222 Tags
Green Green List (high evidence)	PPIB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Osteogenesis imperfecta, type IX, 259440 Tags
Green Green List (high evidence)	PPM1D	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Jansen de Vries syndrome, 617450 Tags
Green Green List (high evidence)	PPOX	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Porphyria variegata, 176200 Tags
Green Green List (high evidence)	PPP1CB	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 loose anagen hair 2, 617506 Tags
Green Green List (high evidence)	PPP1R15B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Microcephaly, short stature, and impaired glucose metabolism 2, 616817 Tags
Green Green List (high evidence)	PPP1R21	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Generalized hypotonia, Feeding difficulties, Profound global developmental delay, Abnormality of the face, Abnormality of vision, Abnormal heart morphology Hepatosplenomegaly Abnormality of the respiratory system Tags
Green Green List (high evidence)	PPP2CA	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Neurodevelopmental disorder and language delay with or without structural brain abnormalities, 618354 Tags
Green Green List (high evidence)	PPP2R1A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mental retardation, autosomal dominant 36, 616362 Tags
Green Green List (high evidence)	PPP2R2B	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spinocerebellar ataxia 12, 604326 Tags
Green Green List (high evidence)	PPP2R5D	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mental retardation, autosomal dominant 35, 616355 Tags
Green Green List (high evidence)	PPP3CA	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, 618265 Epileptic encephalopathy, infantile or early childhood, 1, 617711 Tags
Green Green List (high evidence)	PPT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Ceroid lipofuscinosis, neuronal, 1, 256730 Tags
Green Green List (high evidence)	PQBP1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Renpenning syndrome, 309500 Tags
Green Green List (high evidence)	PRDM12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Neuropathy, hereditary sensory and autonomic, type VIII, 616488 Tags
Green Green List (high evidence)	PRF1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hemophagocytic lymphohistiocytosis, familial, 2, 603553 Lymphoma, non-Hodgkin, 605027 Aplastic anemia, 609135 Tags
Green Green List (high evidence)	PRG4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 Tags
Green Green List (high evidence)	PRICKLE1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epilepsy, progressive myoclonic 1B, 612437 Tags
Green Green List (high evidence)	PRKAG2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Glycogen storage disease of heart, lethal congenital, 261740 Cardiomyopathy, hypertrophic 6, 600858 Wolff-Parkinson-White syndrome, 194200 Tags
Green Green List (high evidence)	PRKAR1A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Pigmented nodular adrenocortical disease, primary, 1, 610489 Carney complex, type 1, 160980 Acrodysostosis 1, with or without hormone resistance, 101800 Myxoma, intracardiac, 255960 Tags
Green Green List (high evidence)	PRKCD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Autoimmune lymphoproliferative syndrome, type III, 615559 Tags
Green Green List (high evidence)	PRKCG	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spinocerebellar ataxia 14, 605361 Tags
Green Green List (high evidence)	PRKD1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Congenital heart defects and ectodermal dysplasia, 617364 Tags
Green Green List (high evidence)	PRKDC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Immunodeficiency 26, with or without neurologic abnormalities, 615966 Tags
Green Green List (high evidence)	PRKN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Parkinson disease, juvenile, type 2, 600116 Tags
Green Green List (high evidence)	PRKRA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Dystonia 16, 612067 Tags
Green Green List (high evidence)	PRMT7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Short stature, brachydactyly, intellectual developmental disability, and seizures, 617157 Tags
Green Green List (high evidence)	PRNP	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Creutzfeldt-Jakob disease, 123400 Huntington disease-like 1, 603218 Insomnia, fatal familial, 600072 Prion disease with protracted course, 606688 Cerebral amyloid angiopathy, PRNP-related, 137440 Gerstmann-Straussler disease, 137440 Tags
Green Green List (high evidence)	PROC	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Thrombophilia due to protein C deficiency, autosomal recessive, 612304 Thrombophilia due to protein C deficiency, autosomal dominant, 176860 Tags
Green Green List (high evidence)	PRODH	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hyperprolinemia, type I, OMIM 239500 hyperprolinemia type 1, MONDO:0009400 Tags
Green Green List (high evidence)	PROKR2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hypogonadotropic hypogonadism 3 with or without anosmia, 244200 Tags
Green Green List (high evidence)	PROP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Pituitary hormone deficiency, combined, 2, 262600 Tags
Green Green List (high evidence)	PROS1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Thrombophilia due to protein S deficiency, autosomal dominant, 612336 Thrombophilia due to protein S deficiency, autosomal recessive, 614514 Tags
Green Green List (high evidence)	PRPS1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070 Deafness, X-linked 1, 304500 Phosphoribosylpyrophosphate synthetase superactivity, 300661 Gout, PRPS-related, 300661 Arts syndrome, 301835 Tags
Green Green List (high evidence)	PRR12	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Intellectual disability and iris abnormalities Tags
Green Green List (high evidence)	PRRT2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Episodic kinesigenic dyskinesia 1, 128200 Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 Seizures, benign familial infantile, 2, 605751 Tags
Green Green List (high evidence)	PRSS12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mental retardation, autosomal recessive 1, 249500 Tags
Green Green List (high evidence)	PRSS56	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Microphthalmia, isolated 6, 613517 Tags
Green Green List (high evidence)	PRUNE1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, 617481 Tags
Green Green List (high evidence)	PRX	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 4F, 614895 Dejerine-Sottas disease, 145900 Tags
Green Green List (high evidence)	PSAP	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Combined SAP deficiency, 611721 Metachromatic leukodystrophy due to SAP-b deficiency, 249900 Gaucher disease, atypical, 610539 Krabbe disease, atypical, 611722 Tags
Green Green List (high evidence)	PSAT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Neu-Laxova syndrome 2, 616038 ?Phosphoserine aminotransferase deficiency, 610992 Tags
Green Green List (high evidence)	PSEN1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes ?Acne inversa, familial, 3, 613737 Alzheimer disease, type 3, 607822 Pick disease, 172700 Cardiomyopathy, dilated, 1U, 613694 Dementia, frontotemporal, 600274 Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822 Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 Tags
Green Green List (high evidence)	PSMB8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040 Tags
Green Green List (high evidence)	PSMD12	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Stankiewicz-Isidor syndrome, 617516 Tags
Green Green List (high evidence)	PSPH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Phosphoserine phosphatase deficiency, 614023 Tags
Green Green List (high evidence)	PSTPIP1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, OMIM:604416 Tags
Green Green List (high evidence)	PTCH1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Basal cell nevus syndrome, 109400 Holoprosencephaly 7, 610828 Tags
Green Green List (high evidence)	PTDSS1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Lenz-Majewski hyperostotic dwarfism, 151050 Tags
Green Green List (high evidence)	PTEN	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Macrocephaly/autism syndrome, 605309 Cowden syndrome 1, 158350 Lhermitte-Duclos syndrome, 158350 Tags
Green Green List (high evidence)	PTF1A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Pancreatic agenesis 2, 615935 Pancreatic and cerebellar agenesis, 609069 Tags
Green Green List (high evidence)	PTH1R	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Eiken syndrome, 600002 Failure of tooth eruption, primary, 125350 Metaphyseal chondrodysplasia, Murk Jansen type, 156400 Chondrodysplasia, Blomstrand type, 215045 Tags
Green Green List (high evidence)	PTHLH	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Brachydactyly, type E2, 613382 Tags
Green Green List (high evidence)	PTPN11	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Metachondromatosis, 156250 Noonan syndrome 1, 163950 LEOPARD syndrome 1, 151100 Tags
Green Green List (high evidence)	PTPN23	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Developmental epileptic encephalopathy with hypomyelination and brain atrophy Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity MIM#618890 Tags
Green Green List (high evidence)	PTPRC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, 608971 Tags
Green Green List (high evidence)	PTS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hyperphenylalaninemia, BH4-deficient, A, 261640 Tags
Green Green List (high evidence)	PUF60	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Verheij syndrome, 615583 Tags
Green Green List (high evidence)	PUM1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spinocerebellar ataxia 47, 617931 Tags
Green Green List (high evidence)	PURA	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mental retardation, autosomal dominant 31, 616158 Tags
Green Green List (high evidence)	PUS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462 Tags
Green Green List (high evidence)	PUS3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mental retardation, autosomal recessive 55, 617051 Tags
Green Green List (high evidence)	PUS7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature, 618342 Tags
Green Green List (high evidence)	PYCR1	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 IIB, 612940 Cutis laxa, autosomal recessive, type IIIB, 614438 Tags
Green Green List (high evidence)	PYCR2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Leukodystrophy, hypomyelinating, 10, 616420 Tags
Green Green List (high evidence)	PYGL	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Glycogen storage disease VI, 232700 Tags
Green Green List (high evidence)	PYGM	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes McArdle disease, 232600 Tags
Green Green List (high evidence)	QARS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760 Tags new-gene-name
Green Green List (high evidence)	QDPR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hyperphenylalaninemia, BH4-deficient, C, 261630 Tags
Green Green List (high evidence)	QRICH1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Ververi-Brady syndrome, 617982 Tags
Green Green List (high evidence)	QRSL1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Combined oxidative phosphorylation deficiency 40, 618835 Tags
Green Green List (high evidence)	RAB11B	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, 617807 Tags
Green Green List (high evidence)	RAB18	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Warburg micro syndrome 3, 614222 Tags
Green Green List (high evidence)	RAB23	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Carpenter syndrome, 201000 Tags
Green Green List (high evidence)	RAB27A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Griscelli syndrome, type 2, 607624 Tags
Green Green List (high evidence)	RAB33B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Smith-McCort dysplasia 2, 615222 Tags
Green Green List (high evidence)	RAB39B	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 72, 300271 Waisman syndrome, 311510 Tags
Green Green List (high evidence)	RAB3GAP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Warburg micro syndrome 1, 600118 Tags
Green Green List (high evidence)	RAB3GAP2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Warburg micro syndrome 2, 614225 Martsolf syndrome, 212720 Tags
Green Green List (high evidence)	RAB7A	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 2B, 600882 Tags
Green Green List (high evidence)	RAC1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mental retardation, autosomal dominant 48, 617751 Tags
Green Green List (high evidence)	RAC2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Neutrophil immunodeficiency syndrome, 608203 Tags
Green Green List (high evidence)	RAC3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, 618577 Tags
Green Green List (high evidence)	RAD21	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes ?Mungan syndrome, 611376 Cornelia de Lange syndrome 4, 614701 Tags
Green Green List (high evidence)	RAF1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Noonan syndrome 5, 611553 Cardiomyopathy, dilated, 1NN, 615916 LEOPARD syndrome 2, 611554 Tags
Green Green List (high evidence)	RAG1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Omenn syndrome, 603554 Combined cellular and humoral immune defects with granulomas, 233650 Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889 Severe combined immunodeficiency, B cell-negative, 601457 Tags
Green Green List (high evidence)	RAG2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Omenn syndrome, 603554 Combined cellular and humoral immune defects with granulomas, 233650 Severe combined immunodeficiency, B cell-negative, 601457 Tags
Green Green List (high evidence)	RAI1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Smith-Magenis syndrome, 182290 Tags
Green Green List (high evidence)	RALA	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Global developmental delay, Intellectual disability, Seizures, Abnormality of nervous system morphology Global developmental delay Abnormality of nervous system morphology Seizures Intellectual disability Tags
Green Green List (high evidence)	RAPSN	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Fetal akinesia deformation sequence 2, 618388 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 Tags
Green Green List (high evidence)	RARB	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Microphthalmia, syndromic 12, 615524 Tags
Green Green List (high evidence)	RARS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Leukodystrophy, hypomyelinating, 9, 616140 Tags new-gene-name
Green Green List (high evidence)	RARS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Pontocerebellar hypoplasia, type 6, 611523 Tags
Green Green List (high evidence)	RASA1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Capillary malformation-arteriovenous malformation 1, 608354 Tags
Green Green List (high evidence)	RASGRP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Immunodeficiency 64, 618534 Tags
Green Green List (high evidence)	RASGRP2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Bleeding disorder, platelet-type, 18, 615888 Tags
Green Green List (high evidence)	RAX	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Microphthalmia, isolated 3, 611038 Tags
Green Green List (high evidence)	RBBP8	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Pancreatic carcinoma, somatic Jawad syndrome, 251255 Seckel syndrome 2, 606744 Tags
Green Green List (high evidence)	RBCK1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Polyglucosan body myopathy 1 with or without immunodeficiency, 615895 Tags
Green Green List (high evidence)	RBM10	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes TARP syndrome, 311900 Tags
Green Green List (high evidence)	RBM8A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Thrombocytopenia-absent radius syndrome, 274000 Tags
Green Green List (high evidence)	RBPJ	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Adams-Oliver syndrome 3, 614814 Tags
Green Green List (high evidence)	RECQL4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes RAPADILINO syndrome, 266280 Baller-Gerold syndrome, 218600 Rothmund-Thomson syndrome, type 2,, 268400 Tags
Green Green List (high evidence)	REEP1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes ?Neuronopathy, distal hereditary motor, type VB, 614751 Spastic paraplegia 31, autosomal dominant, 610250 Tags
Green Green List (high evidence)	RELN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Lissencephaly 2 (Norman-Roberts type), 257320 Tags
Green Green List (high evidence)	REN	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hyperuricemic nephropathy, familial juvenile 2, 613092 Renal tubular dysgenesis, 267430 Tags
Green Green List (high evidence)	RERE	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, 616975 Tags
Green Green List (high evidence)	RET	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Central hypoventilation syndrome, congenital, 209880 Tags
Green Green List (high evidence)	RETREG1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Neuropathy, hereditary sensory and autonomic, type IIB, 613115 Tags
Green Green List (high evidence)	RFT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Congenital disorder of glycosylation, type In, 612015 Tags
Green Green List (high evidence)	RFX5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Bare lymphocyte syndrome, type II, complementation group E, 209920 Bare lymphocyte syndrome, type II, complementation group C, 209920 Tags
Green Green List (high evidence)	RFX6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mitchell-Riley syndrome, 615710 Tags
Green Green List (high evidence)	RFXANK	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes MHC class II deficiency, complementation group B, 209920 Tags
Green Green List (high evidence)	RFXAP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Bare lymphocyte syndrome, type II, complementation group D, 209920 Tags
Green Green List (high evidence)	RHAG	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Overhydrated hereditary stomatocytosis, 185000 Anemia, hemolytic, Rh-null, regulator type, 268150 Tags
Green Green List (high evidence)	RHOBTB2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epileptic encephalopathy, early infantile, 64, 618004 Tags
Green Green List (high evidence)	RIPK1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Immunodeficiency 57, 618108 Tags
Green Green List (high evidence)	RIPK4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Popliteal pterygium syndrome, Bartsocas-Papas type, 263650 CHAND syndrome, 214350 Tags
Green Green List (high evidence)	RIT1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Noonan syndrome 8, 615355 Tags
Green Green List (high evidence)	RLIM	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 Tonne-Kalscheuer syndrome, 300978 Tags
Green Green List (high evidence)	RMND1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Combined oxidative phosphorylation deficiency 11, 614922 Tags
Green Green List (high evidence)	RMRP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Cartilage-hair hypoplasia, 250250 Anauxetic dysplasia 1, 607095 Metaphyseal dysplasia without hypotrichosis, 250460 Tags
Green Green List (high evidence)	RNASEH1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2, 616479 Tags
Green Green List (high evidence)	RNASEH2A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Aicardi-Goutieres syndrome 4, 610333 Tags
Green Green List (high evidence)	RNASEH2B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Aicardi-Goutieres syndrome 2, 610181 Tags
Green Green List (high evidence)	RNASEH2C	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Aicardi-Goutieres syndrome 3, 610329 Tags
Green Green List (high evidence)	RNASET2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Leukoencephalopathy, cystic, without megalencephaly, 612951 Tags
Green Green List (high evidence)	RNF125	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Tenorio syndrome, 616260 Tags
Green Green List (high evidence)	RNF168	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes RIDDLE syndrome, 611943 Tags
Green Green List (high evidence)	RNF170	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Ataxia, sensory, 1, autosomal dominant, 608984 Tags
Green Green List (high evidence)	RNF216	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 Tags
Green Green List (high evidence)	RNU4ATAC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Microcephalic osteodysplastic primordial dwarfism, type I, 210710 Roifman syndrome, 616651 Tags
Green Green List (high evidence)	ROBO1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes tetralogy of Fallot and septal defects Tags
Green Green List (high evidence)	ROBO3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 Tags
Green Green List (high evidence)	ROGDI	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Kohlschutter-Tonz syndrome, 226750 Tags
Green Green List (high evidence)	ROR2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Robinow syndrome, autosomal recessive, 268310 Brachydactyly, type B1, 113000 Tags
Green Green List (high evidence)	RORA	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060 Tags
Green Green List (high evidence)	RORB	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes {Epilepsy, idiopathic generalized, susceptibility to, 15}, 618357 Tags
Green Green List (high evidence)	RORC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Immunodeficiency 42, 616622 Tags
Green Green List (high evidence)	RPE65	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Leber congenital amaurosis 2, 204100 Retinitis pigmentosa 20, 613794 Tags
Green Green List (high evidence)	RPGR	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Retinitis pigmentosa 3, 300029 Macular degeneration, X-linked atrophic, 300834 Cone-rod dystrophy, X-linked, 1, 304020 Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455 Tags
Green Green List (high evidence)	RPGRIP1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Leber congenital amaurosis 6, 613826 Cone-rod dystrophy 13, 608194 Tags
Green Green List (high evidence)	RPGRIP1L	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Meckel syndrome 5, 611561 COACH syndrome, 216360 Joubert syndrome 7, 611560 Tags
Green Green List (high evidence)	RPIA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Ribose 5-phosphate isomerase deficiency, 608611 Tags
Green Green List (high evidence)	RPL10	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, 35, 300998 Tags
Green Green List (high evidence)	RPL11	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Diamond-Blackfan anemia 7, 612562 Tags
Green Green List (high evidence)	RPL35A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Diamond-Blackfan anemia 5, 612528 Tags
Green Green List (high evidence)	RPL5	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Diamond-Blackfan anemia 6, 612561 Tags
Green Green List (high evidence)	RPS10	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Diamond-Blackfan anemia 9, 613308 Tags
Green Green List (high evidence)	RPS17	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Diamond-Blackfan anemia 4, 612527 Tags
Green Green List (high evidence)	RPS19	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Diamond-Blackfan anemia 1, 105650 Tags
Green Green List (high evidence)	RPS24	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Diamond-blackfan anemia 3, 610629 Tags
Green Green List (high evidence)	RPS26	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Diamond-Blackfan anemia 10, 613309 Tags
Green Green List (high evidence)	RPS6KA3	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 Coffin-Lowry syndrome, 303600 Mental retardation, X-linked 19, 300844 Tags
Green Green List (high evidence)	RPS7	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Diamond-Blackfan anemia 8, 612563 Tags
Green Green List (high evidence)	RPSA	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Asplenia, isolated congenital, 271400 Tags
Green Green List (high evidence)	RRM2B	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 Tags
Green Green List (high evidence)	RS1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Retinoschisis, 312700 Tags
Green Green List (high evidence)	RSPH1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Ciliary dyskinesia, primary, 24, 615481 Tags
Green Green List (high evidence)	RSPH3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Ciliary dyskinesia, primary, 32, 616481 Tags
Green Green List (high evidence)	RSPH4A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Ciliary dyskinesia, primary, 11, 612649 Tags
Green Green List (high evidence)	RSPH9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Ciliary dyskinesia, primary, 12, 612650 Tags
Green Green List (high evidence)	RSPO4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Anonychia congenita, 206800 Tags
Green Green List (high evidence)	RTEL1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Dyskeratosis congenita, autosomal dominant 4, 615190 Dyskeratosis congenita, autosomal recessive 5, 615190 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, 616373 Tags
Green Green List (high evidence)	RTN2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spastic paraplegia 12, autosomal dominant, 604805 Tags
Green Green List (high evidence)	RTN4IP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 Tags
Green Green List (high evidence)	RTTN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Microcephaly, short stature, and polymicrogyria with seizures, 614833 Tags
Green Green List (high evidence)	RUNX1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Leukemia, acute myeloid, 601626 Platelet disorder, familial, with associated myeloid malignancy, 601399 Tags
Green Green List (high evidence)	RUNX2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, 156510 Cleidocranial dysplasia, 119600 Cleidocranial dysplasia, forme fruste, dental anomalies only, 119600 Cleidocranial dysplasia, forme fruste, with brachydactyly, 119600 Tags
Green Green List (high evidence)	RYR1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Central core disease, 117000 King-Denborough syndrome, 145600 Minicore myopathy with external ophthalmoplegia, 255320 Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 Tags
Green Green List (high evidence)	RYR2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772 Arrhythmogenic right ventricular dysplasia 2, 600996 Tags
Green Green List (high evidence)	SACS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spastic ataxia, Charlevoix-Saguenay type, 270550 Tags
Green Green List (high evidence)	SALL1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Townes-Brocks branchiootorenal-like syndrome, 107480 Townes-Brocks syndrome 1, 107480 Tags
Green Green List (high evidence)	SALL4	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes IVIC syndrome, 147750 Duane-radial ray syndrome, 607323 Tags
Green Green List (high evidence)	SAMD12	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epilepsy, familial adult myoclonic, 1, 601068 Tags
Green Green List (high evidence)	SAMD9	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Tumoral calcinosis, familial, normophosphatemic, 610455 MIRAGE syndrome, 617053 Tags
Green Green List (high evidence)	SAMD9L	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Ataxia-pancytopenia syndrome, 159550 Tags
Green Green List (high evidence)	SAMHD1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Aicardi-Goutieres syndrome 5, 612952 ?Chilblain lupus 2, 614415 Tags
Green Green List (high evidence)	SAR1B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Chylomicron retention disease, 246700 Tags
Green Green List (high evidence)	SARS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 Tags
Green Green List (high evidence)	SATB2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Glass syndrome, 612313 Tags
Green Green List (high evidence)	SBDS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Shwachman-Diamond syndrome, 260400 Tags
Green Green List (high evidence)	SBF1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Charcot-Marie-Tooth disease, type 4B3, 615284 Tags
Green Green List (high evidence)	SBF2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Charcot-Marie-Tooth disease, type 4B2, 604563 Tags
Green Green List (high evidence)	SC5D	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Lathosterolosis, 607330 Tags
Green Green List (high evidence)	SCAPER	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Intellectual developmental disorder and retinitis pigmentosa, 618195 Tags
Green Green List (high evidence)	SCARB2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 Tags
Green Green List (high evidence)	SCARF2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Van den Ende-Gupta syndrome, 600920 Tags
Green Green List (high evidence)	SCLT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Oro-facio-digital syndrome type IX Tags
Green Green List (high evidence)	SCN11A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Neuropathy, hereditary sensory and autonomic, type VII, 615548 Episodic pain syndrome, familial, 3, 615552 Tags
Green Green List (high evidence)	SCN1A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epilepsy, generalized, with febrile seizures plus, type 2, 604403 Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), 607208 Migraine, familial hemiplegic, 3, 609634 Febrile seizures, familial, 3A, 604403 Tags
Green Green List (high evidence)	SCN1B	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epilepsy, generalized, with febrile seizures plus, type 1, 604233 Cardiac conduction defect, nonspecific, 612838 Epileptic encephalopathy, early infantile, 52, 617350 Atrial fibrillation, familial, 13, 615377 Brugada syndrome 5, 612838 Tags
Green Green List (high evidence)	SCN2A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epileptic encephalopathy, early infantile, 11, 613721 Seizures, benign familial infantile, 3, 607745 Tags
Green Green List (high evidence)	SCN3A	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 4, 617935 Epileptic encephalopathy, early infantile, 62, 617938 Tags
Green Green List (high evidence)	SCN4A	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hyperkalemic periodic paralysis, type 2, 170500 Myasthenic syndrome, congenital, 16, 614198 Myotonia congenita, atypical, acetazolamide-responsive, 608390 Hypokalemic periodic paralysis, type 2, 613345 Paramyotonia congenita, 168300 Tags
Green Green List (high evidence)	SCN8A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epileptic encephalopathy, early infantile, 13, 614558 ?Myoclonus, familial, 2, 618364 Cognitive impairment with or without cerebellar ataxia, 614306 Seizures, benign familial infantile, 5, 617080 Tags
Green Green List (high evidence)	SCN9A	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Insensitivity to pain, congenital, 243000 Febrile seizures, familial, 3B, 613863 Paroxysmal extreme pain disorder, 167400 Epilepsy, generalized, with febrile seizures plus, type 7, 613863 Small fiber neuropathy, 133020 HSAN2D, autosomal recessive, 243000 Erythermalgia, primary, 133020 Tags
Green Green List (high evidence)	SCNN1A	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Bronchiectasis with or without elevated sweat chloride 2, 613021 ?Liddle syndrome 3, 618126 Pseudohypoaldosteronism, type I, 264350 Tags
Green Green List (high evidence)	SCNN1B	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Liddle syndrome 1, 177200 Bronchiectasis with or without elevated sweat chloride 1, 211400 Pseudohypoaldosteronism, type I, 264350 Tags
Green Green List (high evidence)	SCO1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048 Tags
Green Green List (high evidence)	SCO2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Myopia 6, 608908 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 Tags
Green Green List (high evidence)	SDCCAG8	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Senior-Loken syndrome 7, 613615 Bardet-Biedl syndrome 16, 615993 Tags
Green Green List (high evidence)	SDHA	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Paragangliomas 5, 614165 Leigh syndrome, 256000 Mitochondrial respiratory chain complex II deficiency, 252011 Cardiomyopathy, dilated, 1GG, 613642 Tags
Green Green List (high evidence)	SDHAF1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mitochondrial complex II deficiency, 252011 Tags
Green Green List (high evidence)	SDHB	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Paraganglioma and gastric stromal sarcoma, 606864 Gastrointestinal stromal tumor, 606764 Paragangliomas 4, 115310 Pheochromocytoma, 171300 Tags
Green Green List (high evidence)	SDHD	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mitochondrial complex II deficiency, 252011 Paragangliomas 1, with or without deafness, 168000 Paraganglioma and gastric stromal sarcoma, 606864 Pheochromocytoma, 171300 Tags
Green Green List (high evidence)	SEC23B	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes ?Cowden syndrome 7, 616858 Dyserythropoietic anemia, congenital, type II, 224100 Tags
Green Green List (high evidence)	SEC24D	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Cole-Carpenter syndrome 2, 616294 Tags
Green Green List (high evidence)	SELENON	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Congenital myopathy 3 with rigid spine, OMIM:602771 Tags
Green Green List (high evidence)	SEPSECS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Pontocerebellar hypoplasia type 2D, 613811 Tags
Green Green List (high evidence)	SEPT9	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Leukemia, acute myeloid, therapy-related Amyotrophy, hereditary neuralgic, 162100 Ovarian carcinoma Tags new-gene-name
Green Green List (high evidence)	SERAC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 Tags
Green Green List (high evidence)	SERPINE1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Plasminogen activator inhibitor-1 deficiency, 613329 Tags
Green Green List (high evidence)	SERPINF1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Osteogenesis imperfecta, type VI, 613982 Tags
Green Green List (high evidence)	SERPINF2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Alpha-2-plasmin inhibitor deficiency, 262850 Tags
Green Green List (high evidence)	SERPING1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Complement component 4, partial deficiency of, 120790 Angioedema, hereditary, types I and II, 106100 Tags
Green Green List (high evidence)	SERPINH1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Osteogenesis imperfecta, type X, 613848 Tags
Green Green List (high evidence)	SET	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mental retardation, autosomal dominant 58, 618106 Tags
Green Green List (high evidence)	SETBP1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mental retardation, autosomal dominant 29, 616078 Schinzel-Giedion midface retraction syndrome, 269150 Tags
Green Green List (high evidence)	SETD1B	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Intellectual developmental disorder with seizures and language delay, OMIM:619000 Intellectual developmental disorder with seizures and language delay, MONDO:0033559 Tags
Green Green List (high evidence)	SETD2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Luscan-Lumish syndrome, 616831 Tags
Green Green List (high evidence)	SETD5	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mental retardation, autosomal dominant 23, 615761 Tags
Green Green List (high evidence)	SETX	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, 606002 Amyotrophic lateral sclerosis 4, juvenile, 602433 Tags
Green Green List (high evidence)	SF3B4	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Acrofacial dysostosis 1, Nager type, 154400 Tags
Green Green List (high evidence)	SFRP4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Pyle disease, 265900 Tags
Green Green List (high evidence)	SFTPB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Surfactant metabolism dysfunction, pulmonary, 1, 265120 Tags
Green Green List (high evidence)	SFXN4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Combined oxidative phosphorylation deficiency 18, 615578 Tags
Green Green List (high evidence)	SGCA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 3, 608099 Tags
Green Green List (high evidence)	SGCB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 4, 604286 Tags
Green Green List (high evidence)	SGCD	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Cardiomyopathy, dilated, 1L, 606685 Muscular dystrophy, limb-girdle, autosomal recessive 6, 601287 Tags
Green Green List (high evidence)	SGCE	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Dystonia-11, myoclonic, 159900 Tags
Green Green List (high evidence)	SGCG	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 5, 253700 Tags
Green Green List (high evidence)	SGPL1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Nephrotic syndrome, type 14, 617575 Tags
Green Green List (high evidence)	SGSH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900 Tags
Green Green List (high evidence)	SH2D1A	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Lymphoproliferative syndrome, X-linked, 1, 308240 Tags
Green Green List (high evidence)	SH3BP2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Cherubism, OMIM:118400 Tags
Green Green List (high evidence)	SH3PXD2B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Frank-ter Haar syndrome, 249420 Tags
Green Green List (high evidence)	SH3TC2	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 4C, 601596 Mononeuropathy of the median nerve, mild, 613353 Tags
Green Green List (high evidence)	SHANK2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes {Autism susceptibility 17}, 613436 Tags
Green Green List (high evidence)	SHANK3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Phelan-McDermid syndrome, 606232 Tags
Green Green List (high evidence)	SHH	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Single median maxillary central incisor, 147250 Holoprosencephaly 3, 142945 Microphthalmia with coloboma 5, 611638 Schizencephaly, 269160 Tags
Green Green List (high evidence)	SHOC2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Noonan syndrome-like with loose anagen hair, 607721 Tags
Green Green List (high evidence)	SHOX	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Leri-Weill dyschondrosteosis, 127300 Short stature, idiopathic familial, 300582 Langer mesomelic dysplasia, 249700 Tags Pseudoautosomal region 1
Green Green List (high evidence)	SI	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Sucrase-isomaltase deficiency, congenital, 222900 Tags
Green Green List (high evidence)	SIK1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epileptic encephalopathy, early infantile, 30, 616341 Tags
Green Green List (high evidence)	SIL1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Marinesco-Sjogren syndrome, 248800 Tags
Green Green List (high evidence)	SIN3A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Witteveen-Kolk syndrome, 613406 Tags
Green Green List (high evidence)	SIX1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Branchiootic syndrome 3, 608389 Deafness, autosomal dominant 23, 605192 Tags
Green Green List (high evidence)	SIX3	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Holoprosencephaly 2, 157170 Schizencephaly, 269160 Tags
Green Green List (high evidence)	SIX5	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Branchiootorenal syndrome 2, 610896 Tags
Green Green List (high evidence)	SKI	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Shprintzen-Goldberg syndrome, 182212 Tags
Green Green List (high evidence)	SKIV2L	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Trichohepatoenteric syndrome 2, 614602 Tags new-gene-name
Green Green List (high evidence)	SLC10A7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, 618363 Tags
Green Green List (high evidence)	SLC11A2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Anemia, hypochromic microcytic, with iron overload 1, 206100 Tags
Green Green List (high evidence)	SLC12A1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Bartter syndrome, type 1, OMIM:601678 Bartter disease type 1, MONDO:0100344 Tags monogenic-polygenic
Green Green List (high evidence)	SLC12A3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Gitelman syndrome, OMIM: 263800 Gitelman syndrome, MONDO:0009904 Tags monogenic-polygenic
Green Green List (high evidence)	SLC12A5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epileptic encephalopathy, early infantile, 34, 616645 Tags
Green Green List (high evidence)	SLC12A6	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Agenesis of the corpus callosum with peripheral neuropathy, 218000 Tags
Green Green List (high evidence)	SLC13A5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epileptic encephalopathy, early infantile, 25, 615905 Tags
Green Green List (high evidence)	SLC16A1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Erythrocyte lactate transporter defect, 245340 Hyperinsulinemic hypoglycemia, familial, 7, 610021 Monocarboxylate transporter 1 deficiency, 616095 Tags
Green Green List (high evidence)	SLC16A2	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 Allan-Herndon-Dudley syndrome, 300523 Tags
Green Green List (high evidence)	SLC17A5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Sialic acid storage disorder, infantile, 269920 Salla disease, 604369 Tags
Green Green List (high evidence)	SLC18A3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Myasthenic syndrome, congenital, 21, presynaptic, 617239 Tags
Green Green List (high evidence)	SLC19A2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Thiamine-responsive megaloblastic anemia syndrome, 249270 Tags
Green Green List (high evidence)	SLC19A3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 Tags
Green Green List (high evidence)	SLC1A2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epileptic encephalopathy, early infantile, 41, 617105 Tags
Green Green List (high evidence)	SLC1A3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Episodic ataxia, type 6, 612656 Tags
Green Green List (high evidence)	SLC1A4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 Tags
Green Green List (high evidence)	SLC20A2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Basal ganglia calcification, idiopathic, 1, 213600 Tags
Green Green List (high evidence)	SLC22A5	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Carnitine deficiency, systemic primary, OMIM:212140 systemic primary carnitine deficiency disease, MONDO:0008919 Tags
Green Green List (high evidence)	SLC25A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes ?Myasthenic syndrome, congenital, 23, presynaptic, 618197 Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 Tags
Green Green List (high evidence)	SLC25A12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epileptic encephalopathy, early infantile, 39, 612949 Tags
Green Green List (high evidence)	SLC25A13	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Citrullinemia, adult-onset type II, 603471 Citrullinemia, type II, neonatal-onset, 605814 Tags
Green Green List (high evidence)	SLC25A15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 Tags
Green Green List (high evidence)	SLC25A19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Microcephaly, Amish type, 607196 Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 Tags
Green Green List (high evidence)	SLC25A20	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Carnitine-acylcarnitine translocase deficiency, 212138 Tags
Green Green List (high evidence)	SLC25A22	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epileptic encephalopathy, early infantile, 3, 609304 Tags
Green Green List (high evidence)	SLC25A24	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Fontaine progeroid syndrome, OMIM 612289 Fontaine progeroid syndrome, MONDO:0012853 Tags
Green Green List (high evidence)	SLC25A26	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Combined oxidative phosphorylation deficiency 28, 616794 Tags
Green Green List (high evidence)	SLC25A3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mitochondrial phosphate carrier deficiency, 610773 Tags
Green Green List (high evidence)	SLC25A38	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Anemia, sideroblastic, 2, pyridoxine-refractory, 205950 Tags
Green Green List (high evidence)	SLC25A4	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283 Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184 Tags
Green Green List (high evidence)	SLC25A42	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, 618416 Tags
Green Green List (high evidence)	SLC25A46	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Neuropathy, hereditary motor and sensory, type VIB, 616505 Tags
Green Green List (high evidence)	SLC26A2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Diastrophic dysplasia, 222600 Epiphyseal dysplasia, multiple, 4, 226900 Achondrogenesis Ib, 600972 De la Chapelle dysplasia, 256050 Diastrophic dysplasia, broad bone-platyspondylic variant, 222600 Atelosteogenesis, type II, 256050 Tags
Green Green List (high evidence)	SLC26A3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Diarrhea 1, secretory chloride, congenital, 214700 Tags
Green Green List (high evidence)	SLC26A4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, 600791 Pendred syndrome, 274600 Tags
Green Green List (high evidence)	SLC27A4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Ichthyosis prematurity syndrome, 608649 Tags
Green Green List (high evidence)	SLC29A3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Histiocytosis-lymphadenopathy plus syndrome, 602782 Tags
Green Green List (high evidence)	SLC2A1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Stomatin-deficient cryohydrocytosis with neurologic defects, 608885 {Epilepsy, idiopathic generalized, susceptibility to, 12}, 614847 Dystonia 9, 601042 GLUT1 deficiency syndrome 2, childhood onset, 612126 GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 Tags
Green Green List (high evidence)	SLC2A10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Arterial tortuosity syndrome, 208050 Tags
Green Green List (high evidence)	SLC2A2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Fanconi-Bickel syndrome, 227810 Tags
Green Green List (high evidence)	SLC30A10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hypermanganesemia with dystonia 1, 613280 Tags
Green Green List (high evidence)	SLC33A1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Congenital cataracts, hearing loss, and neurodegeneration, 614482 Spastic paraplegia 42, autosomal dominant, 612539 Tags
Green Green List (high evidence)	SLC34A2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Pulmonary alveolar microlithiasis, 265100 Tags
Green Green List (high evidence)	SLC34A3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hypophosphatemic rickets with hypercalciuria, 241530 Tags
Green Green List (high evidence)	SLC35A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Congenital disorder of glycosylation, type IIf, 603585 Tags
Green Green List (high evidence)	SLC35A2	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 Congenital disorder of glycosylation, type IIm, 300896 Tags
Green Green List (high evidence)	SLC35C1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Congenital disorder of glycosylation, type IIc, 266265 Tags
Green Green List (high evidence)	SLC35D1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Schneckenbecken dysplasia, 269250 Tags
Green Green List (high evidence)	SLC37A4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Glycogen storage disease Ib, 232220 Glycogen storage disease Ic, 232240 Tags
Green Green List (high evidence)	SLC39A13	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Ehlers-Danlos syndrome, spondylodysplastic type, 3, 612350 Tags
Green Green List (high evidence)	SLC39A14	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hypermanganesemia with dystonia 2, 617013 ?Hyperostosis cranalis interna, 144755 Tags
Green Green List (high evidence)	SLC39A4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Acrodermatitis enteropathica, 201100 Tags
Green Green List (high evidence)	SLC39A8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Congenital disorder of glycosylation, type IIn, 616721 Tags
Green Green List (high evidence)	SLC3A1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Cystinuria, 220100 Tags
Green Green List (high evidence)	SLC40A1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hemochromatosis, type 4, 606069 Tags
Green Green List (high evidence)	SLC45A2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Albinism, oculocutaneous, type IV, 606574 Tags
Green Green List (high evidence)	SLC46A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Folate malabsorption, hereditary, 229050 Tags
Green Green List (high evidence)	SLC4A1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Renal tubular acidosis, distal, AR, 611590 Cryohydrocytosis, 185020 Spherocytosis, type 4, 612653 Ovalocytosis, SA type, 166900 Renal tubular acidosis, distal, AD, 179800 Tags
Green Green List (high evidence)	SLC4A11	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Corneal dystrophy, Fuchs endothelial, 4, 613268 Corneal endothelial dystrophy, autosomal recessive, 217700 Corneal endothelial dystrophy and perceptive deafness, 217400 Tags
Green Green List (high evidence)	SLC4A4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Renal tubular acidosis, proximal, with ocular abnormalities, 604278 Tags
Green Green List (high evidence)	SLC52A2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Brown-Vialetto-Van Laere syndrome 2, 614707 Tags
Green Green List (high evidence)	SLC52A3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes ?Fazio-Londe disease, 211500 Brown-Vialetto-Van Laere syndrome 1, 211530 Tags
Green Green List (high evidence)	SLC5A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Glucose/galactose malabsorption, 606824 Tags
Green Green List (high evidence)	SLC5A2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Renal glucosuria, 233100 Tags
Green Green List (high evidence)	SLC5A5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Thyroid dyshormonogenesis 1, 274400 Tags
Green Green List (high evidence)	SLC5A7	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Neuronopathy, distal hereditary motor, type VIIA, 158580 Myasthenic syndrome, congenital, 20, presynaptic, 617143 Tags
Green Green List (high evidence)	SLC6A1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Myoclonic-atonic epilepsy, 616421 Tags
Green Green List (high evidence)	SLC6A17	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mental retardation, autosomal recessive 48, 616269 Tags
Green Green List (high evidence)	SLC6A19	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Iminoglycinuria, digenic, 242600 Hyperglycinuria, 138500 Hartnup disorder, 234500 Tags
Green Green List (high evidence)	SLC6A3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Parkinsonism-dystonia, infantile, 1, 613135 Tags
Green Green List (high evidence)	SLC6A5	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hyperekplexia 3, 614618 Tags
Green Green List (high evidence)	SLC6A8	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Cerebral creatine deficiency syndrome 1, 300352 Tags
Green Green List (high evidence)	SLC6A9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Glycine encephalopathy with normal serum glycine, 617301 Tags
Green Green List (high evidence)	SLC7A7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Lysinuric protein intolerance, 222700 Tags
Green Green List (high evidence)	SLC7A9	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Cystinuria, 220100 Tags
Green Green List (high evidence)	SLC9A6	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, Christianson type, 300243 Tags
Green Green List (high evidence)	SLCO2A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 Tags
Green Green List (high evidence)	SLFN14	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Bleeding disorder, platelet-type, 20, 616913 Tags
Green Green List (high evidence)	SLX4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Fanconi anemia, complementation group P, 613951 Tags
Green Green List (high evidence)	SMAD3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Loeys-Dietz syndrome 3, 613795 Tags
Green Green List (high evidence)	SMAD4	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 Polyposis, juvenile intestinal, 174900 Myhre syndrome, 139210 Tags
Green Green List (high evidence)	SMARCA2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Nicolaides-Baraitser syndrome, 601358 Tags
Green Green List (high evidence)	SMARCA4	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Coffin-Siris syndrome 4, 614609 Tags
Green Green List (high evidence)	SMARCAL1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Schimke immunoosseous dysplasia, 242900 Tags
Green Green List (high evidence)	SMARCB1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Coffin-Siris syndrome 3, 614608 Rhabdoid tumors, somatic, 609322 Tags
Green Green List (high evidence)	SMARCC2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Coffin-Siris syndrome 8, 618362 Tags
Green Green List (high evidence)	SMARCD1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Abnormality of the foot Global developmental delay Generalized hypotonia Feeding difficulties Intellectual disability Abnormality of the hand Coffin-Siris syndrome 11, 618779 Tags
Green Green List (high evidence)	SMARCE1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Coffin-Siris syndrome 5, 616938 Tags
Green Green List (high evidence)	SMC1A	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 Cornelia de Lange syndrome 2, OMIM:300590 Cornelia de Lange syndrome 2, MONDO:0010370 Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044 Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771 Tags
Green Green List (high evidence)	SMC3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Cornelia de Lange syndrome 3, 610759 Tags
Green Green List (high evidence)	SMCHD1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Bosma arhinia microphthalmia syndrome, 603457 Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 Tags
Green Green List (high evidence)	SMN1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spinal muscular atrophy-3, 253400 Spinal muscular atrophy-4, 271150 Spinal muscular atrophy-2, 253550 Spinal muscular atrophy-1, 253300 Tags
Green Green List (high evidence)	SMOC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Microphthalmia with limb anomalies, 206920 Tags
Green Green List (high evidence)	SMPD1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Niemann-Pick disease, type B, 607616 Niemann-Pick disease, type A, 257200 Tags
Green Green List (high evidence)	SMPX	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 Deafness, X-linked 4, 300066 Tags
Green Green List (high evidence)	SMS	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, Snyder-Robinson type, 309583 Tags
Green Green List (high evidence)	SNAP29	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 Tags
Green Green List (high evidence)	SNCA	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Parkinson disease 1, 168601 Dementia, Lewy body, 127750 Parkinson disease 4, 605543 Tags
Green Green List (high evidence)	SNORD118	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Leukoencephalopathy, brain calcifications, and cysts, 614561 Tags
Green Green List (high evidence)	SNRPB	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Cerebrocostomandibular syndrome, 117650 Tags
Green Green List (high evidence)	SNX10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Osteopetrosis, autosomal recessive 8, 615085 Tags
Green Green List (high evidence)	SNX14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spinocerebellar ataxia, autosomal recessive 20, 616354 Tags
Green Green List (high evidence)	SON	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes ZTTK syndrome, 617140 Tags
Green Green List (high evidence)	SOS1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Noonan syndrome 4, 610733 Tags
Green Green List (high evidence)	SOS2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Noonan syndrome 9, 616559 Tags
Green Green List (high evidence)	SOST	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Craniodiaphyseal dysplasia, autosomal dominant, 122860 Sclerosteosis 1, 269500 Van Buchem disease, 239100 Tags
Green Green List (high evidence)	SOX10	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes PCWH syndrome, 609136 Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 Waardenburg syndrome, type 4C, 613266 Tags
Green Green List (high evidence)	SOX11	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Coffin-Siris syndrome 9, 615866 Tags
Green Green List (high evidence)	SOX17	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Vesicoureteral reflux 3, 613674 Tags
Green Green List (high evidence)	SOX2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Microphthalmia, syndromic 3, 206900 Optic nerve hypoplasia and abnormalities of the central nervous system, 206900 Tags
Green Green List (high evidence)	SOX3	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, with isolated growth hormone deficiency, OMIM:300123 Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252 Panhypopituitarism, X-linked, OMIM:312000 Panhypopituitarism, X-linked, MONDO:0010712 Tags
Green Green List (high evidence)	SOX4	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Coffin-Siris syndrome 10, 618506 Tags
Green Green List (high evidence)	SOX5	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Lamb-Shaffer syndrome, 616803 Tags
Green Green List (high evidence)	SOX9	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Acampomelic campomelic dysplasia, 114290 Campomelic dysplasia, 114290 Campomelic dysplasia with autosomal sex reversal, 114290 Tags
Green Green List (high evidence)	SP110	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hepatic venoocclusive disease with immunodeficiency, 235550 Tags
Green Green List (high evidence)	SPAG1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Ciliary dyskinesia, primary, 28, 615505 Tags
Green Green List (high evidence)	SPART	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Troyer syndrome, 275900 Tags
Green Green List (high evidence)	SPAST	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spastic paraplegia 4, autosomal dominant, OMIM:182601 hereditary spastic paraplegia 4, MONDO:0008438 Tags
Green Green List (high evidence)	SPATA5	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epilepsy, hearing loss, and mental retardation syndrome, 616577 Tags new-gene-name
Green Green List (high evidence)	SPECC1L	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Opitz GBBB syndrome, type II, 145410 ?Facial clefting, oblique, 1, 600251 Hypertelorism, Teebi type, 145420 Tags
Green Green List (high evidence)	SPEG	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Centronuclear myopathy 5, 615959 Tags
Green Green List (high evidence)	SPG11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spastic paraplegia 11, autosomal recessive, 604360 Charcot-Marie-Tooth disease, axonal, type 2X, 616668 Amyotrophic lateral sclerosis 5, juvenile, 602099 Tags
Green Green List (high evidence)	SPG21	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mast syndrome, 248900 Tags
Green Green List (high evidence)	SPG7	2 reviews	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 Spastic paraplegia 7, autosomal recessive, OMIM:607259 hereditary spastic paraplegia 7, MONDO:0011803 Tags
Green Green List (high evidence)	SPINK5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Netherton syndrome, 256500 Tags
Green Green List (high evidence)	SPPL2A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Defects with susceptibility to mycobacterial infection (MSMD) Susceptibility to mycobacteria Defects in Intrinsic and Innate Immunity Tags
Green Green List (high evidence)	SPR	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 Tags
Green Green List (high evidence)	SPRED1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Legius syndrome, 611431 Tags
Green Green List (high evidence)	SPTA1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Elliptocytosis-2, 130600 Spherocytosis, type 3, 270970 Pyropoikilocytosis, 266140 Tags
Green Green List (high evidence)	SPTAN1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Developmental and epileptic encephalopathy 5, OMIM:613477 developmental and epileptic encephalopathy, 5, MONDO:0013277 Tags
Green Green List (high evidence)	SPTB	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spherocytosis, type 2, 616649 Anemia, neonatal hemolytic, fatal or near-fatal, 617948 Elliptocytosis-3, 617948 Tags
Green Green List (high evidence)	SPTBN2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spinocerebellar ataxia 5, 600224 Spinocerebellar ataxia, autosomal recessive 14, 615386 Tags
Green Green List (high evidence)	SPTBN4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 Tags
Green Green List (high evidence)	SPTLC1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Neuropathy, hereditary sensory and autonomic, type IA, 162400 Tags
Green Green List (high evidence)	SPTLC2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Neuropathy, hereditary sensory and autonomic, type IC, 613640 Tags
Green Green List (high evidence)	SQSTM1	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Paget disease of bone 3, 167250 Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 Myopathy, distal, with rimmed vacuoles, 617158 Tags
Green Green List (high evidence)	SRC	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Colon cancer, advanced, somatic, 114500 ?Thrombocytopenia 6, 616937 Tags
Green Green List (high evidence)	SRCAP	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Floating-Harbor syndrome, 136140 Tags
Green Green List (high evidence)	SRD5A2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Pseudovaginal perineoscrotal hypospadias, 264600 Tags
Green Green List (high evidence)	SRD5A3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Kahrizi syndrome, 612713 Congenital disorder of glycosylation, type Iq, 612379 Tags
Green Green List (high evidence)	SRY	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 46XX sex reversal 1, 400045 46XY sex reversal 1, 400044 Tags
Green Green List (high evidence)	SSR4	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Congenital disorder of glycosylation, type Iy, 300934 Tags
Green Green List (high evidence)	ST3GAL3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mental retardation, autosomal recessive 12, 611090 ?Epileptic encephalopathy, early infantile, 15, 615006 Tags
Green Green List (high evidence)	ST3GAL5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Salt and pepper developmental regression syndrome, 609056 Tags
Green Green List (high evidence)	STAC3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Myopathy, congenital, Baily-Bloch, 255995 Tags
Green Green List (high evidence)	STAG1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mental retardation, autosomal dominant 47, 617635 Tags
Green Green List (high evidence)	STAG2	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 Mullegama-Klein-Martinez syndrome, 301022 Tags
Green Green List (high evidence)	STAMBP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Microcephaly-capillary malformation syndrome, 614261 Tags
Green Green List (high evidence)	STAR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Lipoid adrenal hyperplasia, 201710 Tags
Green Green List (high evidence)	STAT1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796 Immunodeficiency 31A, mycobacteriosis, autosomal dominant, 614892 Immunodeficiency 31C, autosomal dominant, 614162 Tags
Green Green List (high evidence)	STAT2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Immunodeficiency 44, 616636 Tags
Green Green List (high evidence)	STAT3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hyper-IgE recurrent infection syndrome, 147060 Autoimmune disease, multisystem, infantile-onset, 1, 615952 Tags
Green Green List (high evidence)	STAT5B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Growth hormone insensitivity with immunodeficiency, 245590 Tags
Green Green List (high evidence)	STIL	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Microcephaly 7, primary, autosomal recessive, 612703 Tags
Green Green List (high evidence)	STIM1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Immunodeficiency 10, 612783 Stormorken syndrome, 185070 Myopathy, tubular aggregate, 1, 160565 Tags
Green Green List (high evidence)	STK11	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Peutz-Jeghers syndrome, 175200 Tags
Green Green List (high evidence)	STK4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, 614868 Tags
Green Green List (high evidence)	STRA6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Microphthalmia, isolated, with coloboma 8, 601186 Microphthalmia, syndromic 9, 601186 Tags
Green Green List (high evidence)	STRADA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 Tags
Green Green List (high evidence)	STRC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Deafness, autosomal recessive 16, 603720 Tags
Green Green List (high evidence)	STS	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Ichthyosis, X-linked, 308100 Tags
Green Green List (high evidence)	STUB1	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Autosomal recessive spinocerebellar ataxia type 16, OMIM:615768 autosomal recessive spinocerebellar ataxia 16, MONDO:0014339 Spinocerebellar ataxia 48, OMIM:618093 spinocerebellar ataxia 48, MONDO:0032526 Tags
Green Green List (high evidence)	STX11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hemophagocytic lymphohistiocytosis, familial, 4, 603552 Tags
Green Green List (high evidence)	STX1B	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Generalized epilepsy with febrile seizures plus, type 9, 616172 Tags
Green Green List (high evidence)	STXBP1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Developmental and epileptic encephalopathy 4, OMIM:612164 developmental and epileptic encephalopathy, 4, MONDO:0012812 Tags
Green Green List (high evidence)	STXBP2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hemophagocytic lymphohistiocytosis, familial, 5, 613101 Tags
Green Green List (high evidence)	SUCLA2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 Tags
Green Green List (high evidence)	SUCLG1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 Tags
Green Green List (high evidence)	SUMF1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Multiple sulfatase deficiency, 272200 Tags
Green Green List (high evidence)	SUOX	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Sulfite oxidase deficiency, 272300 Tags
Green Green List (high evidence)	SURF1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Charcot-Marie-Tooth disease, type 4K, 616684 Leigh syndrome, due to COX IV deficiency, 256000 Tags
Green Green List (high evidence)	SUZ12	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Weaver-like overgrowth syndrome Imagawa-Matsumoto syndrome, 618786 Tags
Green Green List (high evidence)	SYN1	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 Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 Tags
Green Green List (high evidence)	SYNE1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spinocerebellar ataxia, autosomal recessive 8, 610743 Arthrogryposis multiplex congenita, myogenic type, 618484 Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 Tags
Green Green List (high evidence)	SYNGAP1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mental retardation, autosomal dominant 5, 612621 Tags
Green Green List (high evidence)	SYNJ1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Parkinson disease 20, early-onset, 615530 Epileptic encephalopathy, early infantile, 53, 617389 Tags
Green Green List (high evidence)	SYP	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 96, 300802 Tags
Green Green List (high evidence)	SYT1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Baker-Gordon syndrome, 618218 Tags
Green Green List (high evidence)	SZT2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epileptic encephalopathy, early infantile, 18, 615476 Tags
Green Green List (high evidence)	TAB2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Congenital heart defects, nonsyndromic, 2, 614980 Tags
Green Green List (high evidence)	TACO1	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)	TAF1	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 33, 300966 Dystonia-Parkinsonism, X-linked, 314250 Tags
Green Green List (high evidence)	TAF6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Alazami-Yuan syndrome, 617126 Tags
Green Green List (high evidence)	TALDO1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Transaldolase deficiency, 606003 Tags
Green Green List (high evidence)	TANGO2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878 Tags
Green Green List (high evidence)	TAP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Bare lymphocyte syndrome, type I, 604571 Tags
Green Green List (high evidence)	TAP2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Bare lymphocyte syndrome, type I, due to TAP2 deficiency, 604571 Tags
Green Green List (high evidence)	TAPBP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Bare lymphocyte syndrome, type I, 604571 Tags
Green Green List (high evidence)	TAPT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type, 616897 Tags
Green Green List (high evidence)	TARDBP	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Amyotrophic lateral sclerosis 10, with or without FTD, 612069 Frontotemporal lobar degeneration, TARDBP-related, 612069 Tags
Green Green List (high evidence)	TAT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Tyrosinemia, type II, 276600 Tags
Green Green List (high evidence)	TAZ	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Barth syndrome, 302060 Tags
Green Green List (high evidence)	TBC1D20	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Warburg micro syndrome 4, 615663 Tags
Green Green List (high evidence)	TBC1D23	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Pontocerebellar hypoplasia, type 11, 617695 Tags
Green Green List (high evidence)	TBC1D24	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes DOORS syndrome, 220500 Deafness , autosomal recessive 86, 614617 Deafness, autosomal dominant 65, 616044 Epileptic encephalopathy, early infantile, 16, 615338 Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp, 608105 Myoclonic epilepsy, infantile, familial, 605021 Tags
Green Green List (high evidence)	TBCD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, OMIM:617193 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, MONDO:0044646 Tags
Green Green List (high evidence)	TBCE	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Kenny-Caffey syndrome, type 1, 244460 Hypoparathyroidism-retardation-dysmorphism syndrome, 241410 Encephalopathy, progressive, with amyotrophy and optic atrophy, 617207 Tags
Green Green List (high evidence)	TBCK	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 Tags
Green Green List (high evidence)	TBK1	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 4, 616439 Tags
Green Green List (high evidence)	TBL1XR1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mental retardation, autosomal dominant 41, 616944 Pierpont syndrome, 602342 Tags
Green Green List (high evidence)	TBP	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spinocerebellar ataxia 17, 607136 Tags
Green Green List (high evidence)	TBR1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Intellectual developmental disorder with autism and speech delay, 606053 Tags
Green Green List (high evidence)	TBX1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes DiGeorge syndrome, 188400 Tetralogy of Fallot, 187500 Conotruncal anomaly face syndrome, 217095 Velocardiofacial syndrome, 192430 Tags
Green Green List (high evidence)	TBX15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Cousin syndrome, 260660 Tags
Green Green List (high evidence)	TBX18	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Congenital anomalies of kidney and urinary tract 2, 143400 Tags
Green Green List (high evidence)	TBX20	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Atrial septal defect 4, 611363 Tags
Green Green List (high evidence)	TBX22	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 ?Abruzzo-Erickson syndrome, 302905 Cleft palate with ankyloglossia, 303400 Tags
Green Green List (high evidence)	TBX3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Ulnar-mammary syndrome, 181450 Tags
Green Green List (high evidence)	TBX4	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, 147891 Tags
Green Green List (high evidence)	TBX5	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Holt-Oram syndrome, 142900 Tags
Green Green List (high evidence)	TBX6	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spondylocostal dysostosis 5, 122600 Tags
Green Green List (high evidence)	TBXA2R	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes {Bleeding disorder, platelet-type, 13, susceptibility to}, 614009 Tags
Green Green List (high evidence)	TBXAS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Ghosal hematodiaphyseal syndrome, 231095 Tags
Green Green List (high evidence)	TCAP	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Cardiomyopathy, hypertrophic, 25, 607487 Muscular dystrophy, limb-girdle, autosomal recessive 7, 601954 Tags
Green Green List (high evidence)	TCF12	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Craniosynostosis 3, 615314 Tags
Green Green List (high evidence)	TCF20	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Developmental delay with variable intellectual impairment and behavioral abnormalities, 618430 Tags
Green Green List (high evidence)	TCF3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Agammaglobulinemia 8, autosomal dominant, 616941 Tags
Green Green List (high evidence)	TCF4	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Pitt-Hopkins syndrome, 610954 Corneal dystrophy, Fuchs endothelial, 3, 613267 Tags
Green Green List (high evidence)	TCIRG1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Osteopetrosis, autosomal recessive 1, 259700 Tags
Green Green List (high evidence)	TCN2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Transcobalamin II deficiency, 275350 Tags
Green Green List (high evidence)	TCOF1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Treacher Collins syndrome 1, 154500 Tags
Green Green List (high evidence)	TCTEX1D2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405 Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565 Tags new-gene-name
Green Green List (high evidence)	TCTN1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Joubert syndrome 13, 614173 Tags
Green Green List (high evidence)	TCTN2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Joubert syndrome 24, 616654 ?Meckel syndrome 8, 613885 Tags
Green Green List (high evidence)	TCTN3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Joubert syndrome 18, 614815 Orofaciodigital syndrome IV, 258860 Tags
Green Green List (high evidence)	TECPR2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spastic paraplegia 49, autosomal recessive, 615031 Tags
Green Green List (high evidence)	TECTA	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Deafness, autosomal recessive 21, 603629 Deafness, autosomal dominant 8/12, 601543 Tags
Green Green List (high evidence)	TEK	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Glaucoma 3, primary congenital, E, 617272 Venous malformations, multiple cutaneous and mucosal, 600195 Tags
Green Green List (high evidence)	TELO2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes You-Hoover-Fong syndrome, 616954 Tags
Green Green List (high evidence)	TENM3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Microphthalmia, syndromic 15, OMIM:615145 ?Microphthalmia, isolated, with coloboma 9, OMIM:615145 Microphthalmia, isolated, with coloboma 9, MONDO:0014059 Tags
Green Green List (high evidence)	TERC	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Dyskeratosis congenita, autosomal dominant 1, 127550 Tags
Green Green List (high evidence)	TERT	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes {Dyskeratosis congenita, autosomal dominant 2}, 613989 {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742 {Dyskeratosis congenita, autosomal recessive 4}, 613989 Tags
Green Green List (high evidence)	TF	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Atransferrinemia, 209300 Tags
Green Green List (high evidence)	TFAP2A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Branchiooculofacial syndrome, 113620 Tags
Green Green List (high evidence)	TFAP2B	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Patent ductus arteriosus 2, 617035 Char syndrome, 169100 Tags
Green Green List (high evidence)	TFG	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hereditary motor and sensory neuropathy, Okinawa type, 604484 ?Spastic paraplegia 57, autosomal recessive, 615658 Tags
Green Green List (high evidence)	TFR2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hemochromatosis, type 3, 604250 Tags
Green Green List (high evidence)	TG	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Thyroid dyshormonogenesis 3, 274700 Tags
Green Green List (high evidence)	TGDS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Catel-Manzke syndrome, 616145 Tags
Green Green List (high evidence)	TGFB1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Camurati-Engelmann disease, 131300 Inflammatory bowel disease, immunodeficiency, and encephalopathy, 618213 Tags
Green Green List (high evidence)	TGFB2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Loeys-Dietz syndrome 4, 614816 Tags
Green Green List (high evidence)	TGFB3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Loeys-Dietz syndrome 5, 615582 Arrhythmogenic right ventricular dysplasia 1, 107970 Tags
Green Green List (high evidence)	TGFBR1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Loeys-Dietz syndrome 1, 609192 Tags
Green Green List (high evidence)	TGFBR2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Loeys-Dietz syndrome 2, 610168 Tags
Green Green List (high evidence)	TGIF1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Holoprosencephaly 4, 142946 Tags
Green Green List (high evidence)	TGM1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Ichthyosis, congenital, autosomal recessive 1, 242300 Tags
Green Green List (high evidence)	TGM5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Peeling skin syndrome 2, 609796 Tags
Green Green List (high evidence)	TGM6	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spinocerebellar ataxia 35, 613908 Tags
Green Green List (high evidence)	TH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Segawa syndrome, recessive, 605407 Tags
Green Green List (high evidence)	THAP1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Dystonia 6, torsion, 602629 Tags
Green Green List (high evidence)	THBD	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Thrombophilia due to thrombomodulin defect, 614486 Tags
Green Green List (high evidence)	THOC2	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 12/35, 300957 Tags
Green Green List (high evidence)	THOC6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Beaulieu-Boycott-Innes syndrome, 613680 Tags
Green Green List (high evidence)	THPO	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Thrombocythemia 1, 187950 Tags
Green Green List (high evidence)	THRA	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hypothyroidism, congenital, nongoitrous, 6, 614450 Tags
Green Green List (high evidence)	THRB	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Thyroid hormone resistance, selective pituitary, 145650 Thyroid hormone resistance, 188570 Thyroid hormone resistance, autosomal recessive, 274300 Tags
Green Green List (high evidence)	TIA1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Welander distal myopathy, 604454 Tags
Green Green List (high evidence)	TICAM1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, 614850 Tags
Green Green List (high evidence)	TIMM50	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes 3-methylglutaconic aciduria, type IX, 617698 Tags
Green Green List (high evidence)	TIMM8A	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mohr-Tranebjaerg syndrome, 304700 Tags
Green Green List (high evidence)	TINF2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Revesz syndrome, 268130 Dyskeratosis congenita, autosomal dominant 3, 613990 Tags
Green Green List (high evidence)	TJP2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hypercholanemia, familial, 607748 Cholestasis, progressive familial intrahepatic 4, 615878 Tags
Green Green List (high evidence)	TK2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069 Tags
Green Green List (high evidence)	TLK2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mental retardation, autosomal dominant 57, OMIM:618050 Mental retardation, autosomal dominant 57, MONDO:0054837 Tags
Green Green List (high evidence)	TLR3	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2}, 613002 Tags
Green Green List (high evidence)	TMC1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Deafness, autosomal dominant 36, 606705 Deafness, autosomal recessive 7, 600974 Tags
Green Green List (high evidence)	TMC6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epidermodysplasia verruciformis, 226400 Tags
Green Green List (high evidence)	TMC8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epidermodysplasia verruciformis 2, 618231 Tags
Green Green List (high evidence)	TMCO1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 213980 Tags
Green Green List (high evidence)	TMEM107	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Orofaciodigital syndrome XVI, 617563 ?Joubert syndrome 29, 617562 Meckel syndrome 13, 617562 Tags
Green Green List (high evidence)	TMEM126B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mitochondrial complex I deficiency, nuclear type 29, 618250 Tags
Green Green List (high evidence)	TMEM138	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Joubert syndrome 16, 614465 Tags
Green Green List (high evidence)	TMEM165	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Congenital disorder of glycosylation, type IIk, 614727 Tags
Green Green List (high evidence)	TMEM173	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes STING-associated vasculopathy, infantile-onset, OMIM:615934 Tags new-gene-name
Green Green List (high evidence)	TMEM216	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Meckel syndrome 2, 603194 Joubert syndrome 2, 608091 Tags
Green Green List (high evidence)	TMEM231	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Joubert syndrome 20, 614970 Meckel syndrome 11, 615397 Tags
Green Green List (high evidence)	TMEM237	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Joubert syndrome 14, 614424 Tags
Green Green List (high evidence)	TMEM240	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spinocerebellar ataxia 21, 607454 Tags
Green Green List (high evidence)	TMEM38B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Osteogenesis imperfecta, type XIV, OMIM:615066 Osteogenesis imperfecta type 14, MONDO:0014029 Tags
Green Green List (high evidence)	TMEM43	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Arrhythmogenic right ventricular dysplasia 5, 604400 Emery-Dreifuss muscular dystrophy 7, AD, 614302 Tags
Green Green List (high evidence)	TMEM5	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, 10, 615041 Tags new-gene-name
Green Green List (high evidence)	TMEM67	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Joubert syndrome 6, 610688 Meckel syndrome 3, 607361 Nephronophthisis 11, 613550 ?RHYNS syndrome, 602152 COACH syndrome, 216360 Tags
Green Green List (high evidence)	TMEM70	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 Tags
Green Green List (high evidence)	TMEM94	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Intellectual developmental disorder with cardiac defects and dysmorphic facies, 618316 Tags
Green Green List (high evidence)	TMIE	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Deafness, autosomal recessive 6, 600971 Tags
Green Green List (high evidence)	TMPRSS3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Deafness, autosomal recessive 8/10, 601072 Tags
Green Green List (high evidence)	TMPRSS6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Iron-refractory iron deficiency anemia, 206200 Tags
Green Green List (high evidence)	TMTC3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Lissencephaly 8, 617255 Tags
Green Green List (high evidence)	TNFAIP3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Autoinflammatory syndrome, familial, Behcet-like, OMIM:616744 Tags
Green Green List (high evidence)	TNFRSF11A	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Osteolysis, familial expansile, 174810 Osteopetrosis, autosomal recessive 7, 612301 Tags
Green Green List (high evidence)	TNFRSF11B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Paget disease of bone 5, juvenile-onset, 239000 Tags
Green Green List (high evidence)	TNFRSF13B	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Immunoglobulin A deficiency 2, 609529 Immunodeficiency, common variable, 2, 240500 Tags
Green Green List (high evidence)	TNFRSF13C	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Immunodeficiency, common variable, 4, 613494 Tags
Green Green List (high evidence)	TNFRSF1A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Periodic fever, familial, OMIM:142680 Tags
Green Green List (high evidence)	TNFSF11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Osteopetrosis, autosomal recessive 2, 259710 Tags
Green Green List (high evidence)	TNNI2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Arthrogryposis, distal, type 2B1, 601680 Tags
Green Green List (high evidence)	TNNT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Nemaline myopathy 5, Amish type, 605355 Tags
Green Green List (high evidence)	TNNT3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Arthrogryposis, distal, type 2B2, OMIM:618435 Arthrogryposis, distal, type 2B2, MONDO:0032750 Tags
Green Green List (high evidence)	TNS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes nephrotic syndrome Tags
Green Green List (high evidence)	TOE1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Pontocerebellar hypoplasia, type 7, 614969 Tags
Green Green List (high evidence)	TOP3A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Microcephaly, growth restriction, and increased sister chromatid exchange 2, 618097 ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 Tags
Green Green List (high evidence)	TOR1A	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Arthrogryposis multiplex congenita 5, OMIM:618947 Arthrogryposis multiplex congenita 5, MONDO:0100218 Dystonia-1, torsion, OMIM:128100 Dystonic disorder, MONDO:0003441 Tags
Green Green List (high evidence)	TP53	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Bone marrow failure syndrome 5, 618165 Li-Fraumeni syndrome, 151623 Tags
Green Green List (high evidence)	TP53RK	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Galloway-Mowat syndrome 4, 617730 Tags
Green Green List (high evidence)	TP63	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Orofacial cleft 8, 618149 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292 Hay-Wells syndrome, 106260 Split-hand/foot malformation 4, 605289 ADULT syndrome, 103285 Limb-mammary syndrome, 603543 Rapp-Hodgkin syndrome, 129400 Tags
Green Green List (high evidence)	TPI1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hemolytic anemia due to triosephosphate isomerase deficiency, 615512 Tags
Green Green List (high evidence)	TPK1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 Tags
Green Green List (high evidence)	TPM2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes CAP myopathy 2, 609285 Arthrogryposis, distal, type 2B4, 108120 Nemaline myopathy 4, autosomal dominant, 609285 Arthrogryposis, distal, type 1A, 108120 Tags
Green Green List (high evidence)	TPM3	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Nemaline myopathy 1, autosomal dominant or recessive, 609284 CAP myopathy 1, 609284 Myopathy, congenital, with fiber-type disproportion, 255310 Tags
Green Green List (high evidence)	TPO	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Thyroid dyshormonogenesis 2A, 274500 Tags
Green Green List (high evidence)	TPP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Ceroid lipofuscinosis, neuronal, 2, 204500 Spinocerebellar ataxia, autosomal recessive 7, 609270 Tags
Green Green List (high evidence)	TPP2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes TPP2 deficiency Tags
Green Green List (high evidence)	TPRKB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Galloway-Mowat syndrome 5, 617731 Tags
Green Green List (high evidence)	TRAC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Immunodeficiency 7, TCR-alpha/beta deficient, 615387 Tags
Green Green List (high evidence)	TRAF3IP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Senior-Loken syndrome 9, 616629 Tags
Green Green List (high evidence)	TRAF7	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Cardiac, facial, and digital anomalies with developmental delay, 618164 Tags
Green Green List (high evidence)	TRAIP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Seckel syndrome 9, 616777 Tags
Green Green List (high evidence)	TRAK1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epileptic encephalopathy, early infantile, 68, 618201 Tags
Green Green List (high evidence)	TRAP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes CAKUT VACTERL Tags
Green Green List (high evidence)	TRAPPC11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 18, 615356 Tags
Green Green List (high evidence)	TRAPPC12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, OMIM:617669 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, MONDO:0044696 Tags
Green Green List (high evidence)	TRAPPC2	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spondyloepiphyseal dysplasia tarda, 313400 Tags
Green Green List (high evidence)	TRAPPC9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mental retardation, autosomal recessive 13, 613192 Tags
Green Green List (high evidence)	TREM2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193 Tags
Green Green List (high evidence)	TREX1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 Chilblain lupus, 610448 Vasculopathy, retinal, with cerebral leukodystrophy, 192315 Tags
Green Green List (high evidence)	TRIM32	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes ?Bardet-Biedl syndrome 11, 615988 Muscular dystrophy, limb-girdle, autosomal recessive 8, 254110 Tags
Green Green List (high evidence)	TRIM37	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mulibrey nanism, 253250 Tags
Green Green List (high evidence)	TRIM71	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Congenital hydrocephalus Tags
Green Green List (high evidence)	TRIM8	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Seizures Global developmental delay Intellectual disability Tags
Green Green List (high evidence)	TRIO	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mental retardation, autosomal dominant 44, 617061 Tags
Green Green List (high evidence)	TRIOBP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Deafness, autosomal recessive 28, 609823 Tags
Green Green List (high evidence)	TRIP11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Osteochondrodysplasia, 184260 Achondrogenesis, type IA, 200600 Tags
Green Green List (high evidence)	TRIP12	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mental retardation, autosomal dominant 49, 617752 Tags
Green Green List (high evidence)	TRIP4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866 Prenatal-onset spinal muscular atrophy with congenital bone fractures, MONDO:0000209 Spinal muscular atrophy with congenital bone fractures 1, MONDO:0014806 ?Muscular dystrophy, congenital, Davignon-Chauveau type, OMIM:617066 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome, MONDO:0014896 Tags
Green Green List (high evidence)	TRIT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Combined oxidative phosphorylation deficiency 35, 617873 Tags
Green Green List (high evidence)	TRMT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mental retardation, autosomal recessive 68, 618302 Tags
Green Green List (high evidence)	TRMT10A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Microcephaly, short stature, and impaired glucose metabolism 1, 616033 Tags
Green Green List (high evidence)	TRMT10C	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Combined oxidative phosphorylation deficiency 30, 616974 Tags
Green Green List (high evidence)	TRMT5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Combined oxidative phosphorylation deficiency 26, 616539 Tags
Green Green List (high evidence)	TRMU	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Liver failure, transient infantile, 613070 Tags
Green Green List (high evidence)	TRNT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084 Retinitis pigmentosa and erythrocytic microcytosis, 616959 Tags
Green Green List (high evidence)	TRPC6	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Glomerulosclerosis, focal segmental, 2, 603965 Tags
Green Green List (high evidence)	TRPM1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 Tags
Green Green List (high evidence)	TRPM4	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Erythrokeratodermia veriabilis et progressiva 6, 618531 Progressive familial heart block, type IB, 604559 Tags
Green Green List (high evidence)	TRPM6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hypomagnesemia 1, intestinal, 602014 Tags
Green Green List (high evidence)	TRPS1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Trichorhinophalangeal syndrome, type I, 190350 Trichorhinophalangeal syndrome, type III, 190351 Tags
Green Green List (high evidence)	TRPV4	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Digital arthropathy-brachydactyly, familial, 606835 Metatropic dysplasia, 156530 Spinal muscular atrophy, distal, congenital nonprogressive, 600175 Brachyolmia type 3, 113500 Hereditary motor and sensory neuropathy, type IIc, 606071 Scapuloperoneal spinal muscular atrophy, 181405 [Sodium serum level QTL 1], 613508 Spondylometaphyseal dysplasia, Kozlowski type, 184252 SED, Maroteaux type, 184095 ?Avascular necrosis of femoral head, primary, 2, 617383 Parastremmatic dwarfism, 168400 Tags
Green Green List (high evidence)	TRPV6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hyperparathyroidism, transient neonatal, 618188 Tags
Green Green List (high evidence)	TRRAP	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Developmental delay with or without dysmorphic facies and autism, 618454 Tags
Green Green List (high evidence)	TSC1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Tuberous sclerosis-1, 191100 Lymphangioleiomyomatosis, 606690 Tags
Green Green List (high evidence)	TSC2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Tuberous sclerosis-2, 613254 Tags
Green Green List (high evidence)	TSEN2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Pontocerebellar hypoplasia type 2B, 612389 Tags
Green Green List (high evidence)	TSEN54	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Pontocerebellar hypoplasia type 4, 225753 Pontocerebellar hypoplasia type 2A, 277470 ?Pontocerebellar hypoplasia type 5, 610204 Tags
Green Green List (high evidence)	TSFM	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Combined oxidative phosphorylation deficiency 3, 610505 Tags
Green Green List (high evidence)	TSHB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hypothyroidism, congenital, nongoitrous 4, 275100 Tags
Green Green List (high evidence)	TSHR	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hyperthyroidism, nonautoimmune, 609152 Hyperthyroidism, familial gestational, 603373 Hypothyroidism, congenital, nongoitrous, 1, 275200 Tags
Green Green List (high evidence)	TSPAN7	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 58, 300210 Tags
Green Green List (high evidence)	TTBK2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spinocerebellar ataxia 11, 604432 Tags
Green Green List (high evidence)	TTC19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mitochondrial complex III deficiency, nuclear type 2, 615157 Tags
Green Green List (high evidence)	TTC21B	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Short-rib thoracic dysplasia 4 with or without polydactyly, 613819 Nephronophthisis 12, 613820 Tags
Green Green List (high evidence)	TTC37	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Trichohepatoenteric syndrome 1, 222470 Tags new-gene-name
Green Green List (high evidence)	TTC7A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Gastrointestinal defects and immunodeficiency syndrome, 243150 Tags
Green Green List (high evidence)	TTC8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes ?Retinitis pigmentosa 51, 613464 Bardet-Biedl syndrome 8, 615985 Tags
Green Green List (high evidence)	TTI2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mental retardation, autosomal recessive 39, 615541 Tags
Green Green List (high evidence)	TTN	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Tibial muscular dystrophy, tardive, 600334 Salih myopathy, 611705 Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807 Myopathy, myofibrillar, 9, with early respiratory failure, 603689 Cardiomyopathy, familial hypertrophic, 9, 613765 Cardiomyopathy, dilated, 1G, 604145 Tags
Green Green List (high evidence)	TTPA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Ataxia with isolated vitamin E deficiency, 277460 Tags
Green Green List (high evidence)	TTR	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Carpal tunnel syndrome, familial, 115430 Amyloidosis, hereditary, transthyretin-related, 105210 Tags
Green Green List (high evidence)	TUBA1A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Lissencephaly 3, 611603 Tags
Green Green List (high evidence)	TUBA8	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Cortical dysplasia, complex, with other brain malformations 8, 613180 Tags
Green Green List (high evidence)	TUBB	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Symmetric circumferential skin creases, congenital, 1, 156610 Cortical dysplasia, complex, with other brain malformations 6, 615771 Tags
Green Green List (high evidence)	TUBB1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 Tags
Green Green List (high evidence)	TUBB2A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Cortical dysplasia, complex, with other brain malformations 5, OMIM:615763 Complex cortical dysplasia with other brain malformations 5, MONDO:0014337 Tags
Green Green List (high evidence)	TUBB2B	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Cortical dysplasia, complex, with other brain malformations 7, 610031 Tags
Green Green List (high evidence)	TUBB3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Fibrosis of extraocular muscles, congenital, 3A, 600638 Cortical dysplasia, complex, with other brain malformations 1, 614039 Tags
Green Green List (high evidence)	TUBB4A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Leukodystrophy, hypomyelinating, 6, 612438 Dystonia 4, torsion, autosomal dominant, 128101 Tags
Green Green List (high evidence)	TUBG1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Cortical dysplasia, complex, with other brain malformations 4, 615412 Tags
Green Green List (high evidence)	TUBGCP4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 Tags
Green Green List (high evidence)	TUBGCP6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 Tags
Green Green List (high evidence)	TUFM	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Combined oxidative phosphorylation deficiency 4, 610678 Tags
Green Green List (high evidence)	TUSC3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mental retardation, autosomal recessive 7, 611093 Tags
Green Green List (high evidence)	TWIST1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Saethre-Chotzen syndrome with or without eyelid anomalies, 101400 Sweeney-Cox syndrome, 617746 Robinow-Sorauf syndrome, 180750 Craniosynostosis 1, 123100 Tags
Green Green List (high evidence)	TWIST2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Ablepharon-macrostomia syndrome, 200110 Focal facial dermal dysplasia 3, Setleis type, 227260 Barber-Say syndrome, 209885 Tags
Green Green List (high evidence)	TWNK	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Perrault syndrome 5, 616138 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 Tags
Green Green List (high evidence)	TXNDC15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Meckel-Gruber syndrome MGS Tags
Green Green List (high evidence)	TXNL4A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Burn-McKeown syndrome, 608572 Tags
Green Green List (high evidence)	TYK2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Immunodeficiency 35, 611521 Tags
Green Green List (high evidence)	TYMP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 Tags
Green Green List (high evidence)	TYR	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Albinism, oculocutaneous, type IA, 203100 Albinism, oculocutaneous, type IB, 606952 Waardenburg syndrome/albinism, digenic, 103470 Tags
Green Green List (high evidence)	TYROBP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770 Tags
Green Green List (high evidence)	TYRP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Albinism, oculocutaneous, type III, 203290 Tags
Green Green List (high evidence)	UBA1	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, X-linked 2, infantile, 301830 Tags
Green Green List (high evidence)	UBA5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epileptic encephalopathy, early infantile, 44, 617132 ?Spinocerebellar ataxia, autosomal recessive 24, 617133 Tags
Green Green List (high evidence)	UBAP1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spastic paraplegia 80, autosomal dominant, 618418 Tags
Green Green List (high evidence)	UBE2A	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, Nascimento-type, 300860 Tags
Green Green List (high evidence)	UBE2T	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Fanconi anemia, complementation group T, 616435 Tags
Green Green List (high evidence)	UBE3A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Angelman syndrome, 105830 Tags
Green Green List (high evidence)	UBE3B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Kaufman oculocerebrofacial syndrome, 244450 Tags
Green Green List (high evidence)	UBR1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Johanson-Blizzard syndrome, 243800 Tags
Green Green List (high evidence)	UBTF	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Neurodegeneration, childhood-onset, with brain atrophy, 617672 Tags
Green Green List (high evidence)	UCHL1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spastic paraplegia 79B, autosomal recessive, OMIM:615491 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209 Spastic paraplegia 79A, autosomal dominant, OMIM:620221 Tags
Green Green List (high evidence)	UFC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Neurodevelopmental disorder with spasticity and poor growth, 618076 Tags
Green Green List (high evidence)	UFM1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Leukodystrophy, hypomyelinating, 14, 617899 Tags
Green Green List (high evidence)	UGT1A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Crigler-Najjar syndrome, type I, 218800 Crigler-Najjar syndrome, type II, 606785 Hyperbilirubinemia, familial transient neonatal, 237900 Tags
Green Green List (high evidence)	UMOD	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886 Medullary cystic kidney disease 2, 603860 Hyperuricemic nephropathy, familial juvenile 1, 162000 Tags
Green Green List (high evidence)	UMPS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Orotic aciduria, 258900 Tags
Green Green List (high evidence)	UNC13D	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hemophagocytic lymphohistiocytosis, familial, 3, 608898 Tags
Green Green List (high evidence)	UNC80	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801 Tags
Green Green List (high evidence)	UNC93B1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, 610551 Tags
Green Green List (high evidence)	UNG	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Immunodeficiency with hyper IgM, type 5, 608106 Tags
Green Green List (high evidence)	UPF3B	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 14, 300676 Tags
Green Green List (high evidence)	UQCC2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mitochondrial complex III deficiency, nuclear type 7, 615824 Tags
Green Green List (high evidence)	UQCRB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mitochondrial complex III deficiency, nuclear type 3, 615158 Tags
Green Green List (high evidence)	UROD	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Porphyria cutanea tarda, 176100 Porphyria, hepatoerythropoietic, 176100 Tags
Green Green List (high evidence)	UROS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Porphyria, congenital erythropoietic, 263700 Tags
Green Green List (high evidence)	USB1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Poikiloderma with neutropenia, 604173 Tags
Green Green List (high evidence)	USH1C	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Deafness, autosomal recessive 18A, 602092 Usher syndrome, type 1C, 276904 Tags
Green Green List (high evidence)	USH1G	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Usher syndrome, type 1G, 606943 Tags
Green Green List (high evidence)	USH2A	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Usher syndrome, type 2A, 276901 Retinitis pigmentosa 39, 613809 Tags
Green Green List (high evidence)	USP18	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Pseudo-TORCH syndrome 2, 617397 Tags
Green Green List (high evidence)	USP9X	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 99, syndromic, female-restricted, 300968 Mental retardation, X-linked 99, 300919 Tags
Green Green List (high evidence)	UVSSA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes UV-sensitive syndrome 3, 614640 Tags
Green Green List (high evidence)	VAC14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Striatonigral degeneration, childhood-onset, 617054 Tags
Green Green List (high evidence)	VAMP1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Myasthenic syndrome, congenital, 25, 618323 Spastic ataxia 1, autosomal dominant, 108600 Tags
Green Green List (high evidence)	VAMP2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Stereotypic behavior Global developmental delay Generalized hypotonia Autistic behavior Abnormality of movement Seizures Cortical visual impairment Intellectual disability Generalized hypotonia, Global developmental delay, Intellectual disability, Autistic behavior, Stereotypic behavior, Seizures, Abnormality of movement, Cortical visual impairment Tags
Green Green List (high evidence)	VARS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 Tags new-gene-name
Green Green List (high evidence)	VARS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Combined oxidative phosphorylation deficiency 20, 615917 Tags
Green Green List (high evidence)	VCAN	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Wagner syndrome 1, 143200 Tags
Green Green List (high evidence)	VCP	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954 Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320 Charcot-Marie-Tooth disease, type 2Y, 616687 Tags
Green Green List (high evidence)	VDR	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Rickets, vitamin D-resistant, type IIA, 277440 Tags
Green Green List (high evidence)	VHL	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Erythrocytosis, familial, 2, 263400 von Hippel-Lindau syndrome, 193300 Pheochromocytoma, 171300 Tags
Green Green List (high evidence)	VIPAS39	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 Tags
Green Green List (high evidence)	VKORC1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Vitamin K-dependent clotting factors, combined deficiency of, 2, 607473 Warfarin resistance, 122700 Tags
Green Green List (high evidence)	VLDLR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 Tags
Green Green List (high evidence)	VMA21	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Myopathy, X-linked, with excessive autophagy, 310440 Tags
Green Green List (high evidence)	VPS11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Leukodystrophy, hypomyelinating, 12, 616683 Tags
Green Green List (high evidence)	VPS13A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Choreoacanthocytosis, 200150 Tags
Green Green List (high evidence)	VPS13B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Cohen syndrome, 216550 Tags
Green Green List (high evidence)	VPS13D	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spinocerebellar ataxia, autosomal recessive 4, 607317 Tags
Green Green List (high evidence)	VPS33B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 Tags
Green Green List (high evidence)	VPS45	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Neutropenia, severe congenital, 5, autosomal recessive, 615285 Tags
Green Green List (high evidence)	VPS53	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Pontocerebellar hypoplasia, type 2E, 615851 Tags
Green Green List (high evidence)	VRK1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Pontocerebellar hypoplasia type 1A, 607596 Tags
Green Green List (high evidence)	VSX2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Microphthalmia with coloboma 3, 610092 Microphthalmia, isolated 2, 610093 Tags
Green Green List (high evidence)	VWF	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes von Willibrand disease, type 3, 277480 von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 von Willebrand disease, type 1, 193400 Tags
Green Green List (high evidence)	WAC	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Desanto-Shinawi syndrome, 616708 Tags
Green Green List (high evidence)	WARS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 Tags
Green Green List (high evidence)	WAS	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Thrombocytopenia, X-linked, intermittent, 313900 Neutropenia, severe congenital, X-linked, 300299 Wiskott-Aldrich syndrome, 301000 Thrombocytopenia, X-linked, 313900 Tags
Green Green List (high evidence)	WASF1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Intellectual Disability with Seizures. Tags
Green Green List (high evidence)	WASHC5	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spastic paraplegia 8, autosomal dominant, 603563 Ritscher-Schinzel syndrome 1, 220210 Tags
Green Green List (high evidence)	WDR11	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hypogonadotropic hypogonadism 14 with or without anosmia, 614858 Tags
Green Green List (high evidence)	WDR19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Senior-Loken syndrome 8, 616307 ?Cranioectodermal dysplasia 4, 614378 Nephronophthisis 13, 614377 ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 Tags
Green Green List (high evidence)	WDR26	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Skraban-Deardorff syndrome, 617616 Tags
Green Green List (high evidence)	WDR34	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 Tags new-gene-name
Green Green List (high evidence)	WDR35	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 Cranioectodermal dysplasia 2, 613610 Tags
Green Green List (high evidence)	WDR37	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Neurooculocardiogenitourinary syndrome, 618652 Tags
Green Green List (high evidence)	WDR4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Microcephaly, growth deficiency, seizures, and brain malformations, 618346 Galloway-Mowat syndrome 6, 618347 Tags
Green Green List (high evidence)	WDR45	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 Neurodegeneration with brain iron accumulation 5, 300894 Tags
Green Green List (high evidence)	WDR45B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 Tags
Green Green List (high evidence)	WDR60	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 Tags new-gene-name
Green Green List (high evidence)	WDR62	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 Tags
Green Green List (high evidence)	WDR73	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Galloway-Mowat syndrome 1, 251300 Tags
Green Green List (high evidence)	WDR81	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Hydrocephalus, congenital, 3, with brain anomalies, 617967 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 Tags
Green Green List (high evidence)	WFS1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Wolfram-like syndrome, autosomal dominant, 614296 ?Cataract 41, 116400 Wolfram syndrome 1, 222300 Deafness, autosomal dominant 6/14/38, 600965 Tags
Green Green List (high evidence)	WISP3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Arthropathy, progressive pseudorheumatoid, of childhood, 208230 Spondyloepiphyseal dysplasia tarda with progressive arthropathy, 208230 Tags new-gene-name
Green Green List (high evidence)	WNT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Osteogenesis imperfecta, type XV, 615220 Tags
Green Green List (high evidence)	WNT10A	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Tooth agenesis, selective, 4, 150400 Schopf-Schulz-Passarge syndrome, 224750 Odontoonychodermal dysplasia, 257980 Tags
Green Green List (high evidence)	WNT10B	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Split-hand/foot malformation 6, 225300 Tooth agenesis, selective, 8, 617073 Tags
Green Green List (high evidence)	WNT5A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Robinow syndrome, autosomal dominant 1, 180700 Tags
Green Green List (high evidence)	WNT7A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Ulna and fibula, absence of, with severe limb deficiency, 276820 Fuhrmann syndrome, 228930 Tags
Green Green List (high evidence)	WRAP53	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Dyskeratosis congenita, autosomal recessive 3, 613988 Tags
Green Green List (high evidence)	WRN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Werner syndrome, 277700 Tags
Green Green List (high evidence)	WT1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Wilms tumor, type 1, 194070 Denys-Drash syndrome, 194080 Frasier syndrome, 136680 Meacham syndrome, 608978 Nephrotic syndrome, type 4, 256370 Tags
Green Green List (high evidence)	WWOX	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epileptic encephalopathy, early infantile, 28, 616211 Spinocerebellar ataxia, autosomal recessive 12, 614322 Tags
Green Green List (high evidence)	XDH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Xanthinuria, type I, 278300 Tags
Green Green List (high evidence)	XIAP	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Lymphoproliferative syndrome, X-linked, 2, 300635 Tags
Green Green List (high evidence)	XPA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Xeroderma pigmentosum, group A, 278700 Tags
Green Green List (high evidence)	XPC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Xeroderma pigmentosum, group C, 278720 Tags
Green Green List (high evidence)	XPR1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Basal ganglia calcification, idiopathic, 6, 616413 Tags
Green Green List (high evidence)	XRCC4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Short stature, microcephaly, and endocrine dysfunction, 616541 Tags
Green Green List (high evidence)	XYLT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Desbuquois dysplasia 2, 615777 Tags
Green Green List (high evidence)	XYLT2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spondyloocular syndrome, 605822 Tags
Green Green List (high evidence)	YARS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 Tags
Green Green List (high evidence)	YWHAG	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Epileptic encephalopathy, early infantile, 56, 617665 Tags
Green Green List (high evidence)	YY1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Gabriele-de Vries syndrome, 617557 Tags
Green Green List (high evidence)	ZAP70	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Autoimmune disease, multisystem, infantile-onset, 2, 617006 Immunodeficiency 48, 269840 Tags
Green Green List (high evidence)	ZBTB18	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mental retardation, autosomal dominant 22, 612337 Tags
Green Green List (high evidence)	ZBTB20	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Primrose syndrome, 259050 Tags
Green Green List (high evidence)	ZBTB24	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 2, 614069 Tags
Green Green List (high evidence)	ZC4H2	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Wieacker-Wolff syndrome, 314580 Tags
Green Green List (high evidence)	ZDHHC9	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, Raymond type, 300799 Tags
Green Green List (high evidence)	ZEB2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mowat-Wilson syndrome, 235730 Tags
Green Green List (high evidence)	ZFP57	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Diabetes mellitus, transient neonatal, 1, 601410 Tags
Green Green List (high evidence)	ZFYVE26	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Spastic paraplegia 15, autosomal recessive, 270700 Tags
Green Green List (high evidence)	ZIC1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Craniosynostosis 6, 616602 Tags
Green Green List (high evidence)	ZIC2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Holoprosencephaly 5, 609637 Tags
Green Green List (high evidence)	ZIC3	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes VACTERL association, X-linked, 314390 Heterotaxy, visceral, 1, X-linked, 306955 Congenital heart defects, nonsyndromic, 1, X-linked, 306955 Tags
Green Green List (high evidence)	ZMIZ1	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 skeletal anomalies Tags
Green Green List (high evidence)	ZMPSTE24	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mandibuloacral dysplasia with type B lipodystrophy, 608612 Restrictive dermopathy, lethal, 275210 Tags
Green Green List (high evidence)	ZMYND11	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Mental retardation, autosomal dominant 30, 616083 Tags
Green Green List (high evidence)	ZNF142	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Neurodevelopmental disorder with impaired speech and hyperkinetic movements, 618425 Tags
Green Green List (high evidence)	ZNF148	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, 617260 Tags
Green Green List (high evidence)	ZNF292	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Intellectual developmental disorder, autosomal dominant 64, OMIM:619188 intellectual developmental disorder, autosomal dominant 64, MONDO:0030934 Tags
Green Green List (high evidence)	ZNF462	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Weiss-Kruszka syndrome, 618619 Tags
Green Green List (high evidence)	ZNF469	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Brittle cornea syndrome 1, 229200 Tags
Green Green List (high evidence)	ZNF711	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 97, 300803 Tags
Green Green List (high evidence)	ZSWIM6	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Next Generation Children Project Phenotypes Acromelic frontonasal dysostosis, 603671 Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865 Tags
Amber Amber List (moderate evidence)	ACD	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes Dyskeratosis congenita, autosomal dominant 6, OMIM:616553 Dyskeratosis congenita, autosomal recessive 7, OMIM:616553 Tags
Amber Amber List (moderate evidence)	ACTL6A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes Autism spectrum disorders or developmental disorders Tags
Amber Amber List (moderate evidence)	ADAM17	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes ?Inflammatory skin and bowel disease, neonatal, 1, 614328 Tags
Amber Amber List (moderate evidence)	APOL1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes {Glomerulosclerosis, focal segmental, 4, susceptibility to}, 612551 {End-stage renal disease, nondiabetic, susceptibility to}, 612551 Tags
Amber Amber List (moderate evidence)	ATP8A2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, 615268 Tags
Amber Amber List (moderate evidence)	ATPAF2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 Tags
Amber Amber List (moderate evidence)	BCL10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes ?Immunodeficiency 37, 616098 Tags
Amber Amber List (moderate evidence)	BLNK	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes ?Agammaglobulinemia 4, 613502 Tags
Amber Amber List (moderate evidence)	CASP8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes ?Autoimmune lymphoproliferative syndrome, type IIB, 607271 Tags
Amber Amber List (moderate evidence)	CDC6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes ?Meier-Gorlin syndrome 5, 613805 Tags
Amber Amber List (moderate evidence)	CFB	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes ?Complement factor B deficiency, 615561 Tags
Amber Amber List (moderate evidence)	COQ7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes ?Coenzyme Q10 deficiency, primary, 8, 616733 Tags
Amber Amber List (moderate evidence)	COX14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes ?Mitochondrial complex IV deficiency, 220110 Tags
Amber Amber List (moderate evidence)	CPT1C	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes ?Spastic paraplegia 73, autosomal dominant, 616282 Tags
Amber Amber List (moderate evidence)	DDOST	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes ?Congenital disorder of glycosylation, type Ir, 614507 Tags
Amber Amber List (moderate evidence)	FASTKD2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes ?Mitochondrial complex IV deficiency, 220110 Tags
Amber Amber List (moderate evidence)	FRMD4A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes ?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 Tags
Amber Amber List (moderate evidence)	GAD1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes ?Cerebral palsy, spastic quadriplegic, 1, 603513 Tags
Amber Amber List (moderate evidence)	GFI1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes ?Neutropenia, severe congenital 2, autosomal dominant, 613107 ?Neutropenia, nonimmune chronic idiopathic, of adults, 607847 Tags
Amber Amber List (moderate evidence)	HARS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes ?Perrault syndrome 2, 614926 Tags
Amber Amber List (moderate evidence)	HYAL1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes ?Mucopolysaccharidosis type IX, 601492 Tags
Amber Amber List (moderate evidence)	IL17F	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes ?Candidiasis, familial, 6, autosomal dominant, 613956 Tags
Amber Amber List (moderate evidence)	IL21	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes ?Immunodeficiency, common variable, 11, 615767 Tags
Amber Amber List (moderate evidence)	IRF7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes ?Immunodeficiency 39, 616345 Tags
Amber Amber List (moderate evidence)	KCNT2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes ?Epileptic encephalopathy, early infantile, 57, 617771 Tags
Amber Amber List (moderate evidence)	KIAA0753	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes ?Orofaciodigital syndrome XV, 617127 Tags
Amber Amber List (moderate evidence)	LCK	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes ?Immunodeficiency 22, 615758 Tags
Amber Amber List (moderate evidence)	LIG1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes DNA ligase I deficiency Tags
Amber Amber List (moderate evidence)	MAP3K14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Next Generation Children Project Tags
Amber Amber List (moderate evidence)	MRPL44	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes ?Combined oxidative phosphorylation deficiency 16, 615395 Tags
Amber Amber List (moderate evidence)	MTPAP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes ?Spastic ataxia 4, autosomal recessive, 613672 Tags
Amber Amber List (moderate evidence)	NADK2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes ?2,4-dienoyl-CoA reductase deficiency, 616034 Tags
Amber Amber List (moderate evidence)	NCF4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes ?Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III, 613960 Tags
Amber Amber List (moderate evidence)	NDUFA2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes ?Mitochondrial complex I deficiency, nuclear type 13, 618235 Tags
Amber Amber List (moderate evidence)	NIN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes ?Seckel syndrome 7, 614851 Tags
Amber Amber List (moderate evidence)	PCK1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic, 261680 Tags
Amber Amber List (moderate evidence)	PEX11B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes ?Peroxisome biogenesis disorder 14B, 614920 Tags
Amber Amber List (moderate evidence)	PNPLA8	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes Colorectal cancer, hereditary nonpolyposis, type 4, 614337 Mismatch repair cancer syndrome, 276300 Tags
Amber Amber List (moderate evidence)	PRKACG	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes ?Mitochondrial myopathy with lactic acidosis, 251950 Tags
Amber Amber List (moderate evidence)	PTCHD1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes ?Bleeding disorder, platelet-type, 19, 616176 Tags
Amber Amber List (moderate evidence)	RB1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes {Autism, susceptibility to, X-linked 4}, 300830 Tags
Amber Amber List (moderate evidence)	REEP2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes Small cell cancer of the lung, somatic, 182280 Osteosarcoma, somatic, 259500 Retinoblastoma, trilateral, 180200 Retinoblastoma, 180200 Bladder cancer, somatic, 109800 Tags
Amber Amber List (moderate evidence)	RHOH	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes ?Spastic paraplegia 72, autosomal dominant, 615625 ?Spastic paraplegia 72, autosomal recessive, 615625 Tags
Amber Amber List (moderate evidence)	SCP2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes {?Epidermodysplasia verruciformis, susceptibility to, 4}, 618307 Tags
Amber Amber List (moderate evidence)	SEMA3E	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes ?Leukoencephalopathy with dystonia and motor neuropathy, 613724 Tags
Amber Amber List (moderate evidence)	SIGMAR1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes ?CHARGE syndrome, 214800 Tags
Amber Amber List (moderate evidence)	SLC18A2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes ?Spinal muscular atrophy, distal, autosomal recessive, 2, 605726 ?Amyotrophic lateral sclerosis 16, juvenile, 614373 Tags
Amber Amber List (moderate evidence)	SLC25A32	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes ?Parkinsonism-dystonia, infantile, 2, 618049 Tags
Amber Amber List (moderate evidence)	SNAP25	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes ?Exercise intolerance, riboflavin-responsive, 616839 Tags
Amber Amber List (moderate evidence)	TPM4	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes ?Myasthenic syndrome, congenital, 18, 616330 Tags
Amber Amber List (moderate evidence)	TRAF3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Next Generation Children Project Tags
Amber Amber List (moderate evidence)	TSEN34	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, 614849 Tags
Amber Amber List (moderate evidence)	UNC119	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes ?Pontocerebellar hypoplasia type 2C, 612390 Tags
Amber Amber List (moderate evidence)	UROC1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes ?Immunodeficiency 13, 615518 ?Cone-rod dystrophy Tags
Amber Amber List (moderate evidence)	WDPCP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes ?Urocanase deficiency, 276880 Tags
Amber Amber List (moderate evidence)	WIPF1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 ?Bardet-Biedl syndrome 15, 615992 Tags
Amber Amber List (moderate evidence)	WNT3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Next Generation Children Project Phenotypes ?Wiskott-Aldrich syndrome 2, 614493 Tags
Red Red List (low evidence)	ATG16L1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Next Generation Children Project Tags
Red Red List (low evidence)	CD46	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Next Generation Children Project Phenotypes {Inflammatory bowel disease (Crohn disease) 10}, 611081 Tags
Red Red List (low evidence)	CFHR1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Next Generation Children Project Phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to, 2}, 612922 Tags
Red Red List (low evidence)	CFHR2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Next Generation Children Project Phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 {Macular degeneration, age-related, reduced risk of}, 603075 Tags
Red Red List (low evidence)	CFHR3	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Next Generation Children Project Tags
Red Red List (low evidence)	CFHR4	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Next Generation Children Project Phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 {Macular degeneration, age-related, reduced risk of}, 603075 Tags
Red Red List (low evidence)	CPA6	3 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Next Generation Children Project Phenotypes Epilepsy, familial temporal lobe, 5, 614417 Febrile seizures, familial, 11, 614418 Tags
Red Red List (low evidence)	DCXR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Next Generation Children Project Tags
Red Red List (low evidence)	DRD2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Next Generation Children Project Phenotypes [Pentosuria], 260800 Tags
Red Red List (low evidence)	EZH1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Next Generation Children Project Phenotypes Dystonia Tags
Red Red List (low evidence)	FPR1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Next Generation Children Project Tags
Red Red List (low evidence)	GNAQ	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Next Generation Children Project Phenotypes Periodontitis, susceptibility to Tags
Red Red List (low evidence)	HMGA2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Next Generation Children Project Phenotypes Silver-Russell syndrome 5, OMIM:618908 Silver-Russell syndrome 5, MONDO:0020795 Tags
Red Red List (low evidence)	IDH1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Next Generation Children Project Phenotypes Leiomyoma, uterine, somatic, 150699 Tags
Red Red List (low evidence)	IL10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Next Generation Children Project Phenotypes {Glioma, susceptibility to, somatic}, 137800 Tags
Red Red List (low evidence)	IL17A	1 review	Unknown	Sources Expert list Expert Review Red Next Generation Children Project Phenotypes {HIV-1, susceptibility to}, 609423 {Graft-versus-host disease, protection against}, 614395 {Rheumatoid arthritis, progression of}, 180300 Tags
Red Red List (low evidence)	IL22	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Next Generation Children Project Phenotypes Immunodeficiency 5 Arthritis Tags
Red Red List (low evidence)	ITGAM	1 review	Unknown	Sources Expert list Expert Review Red Next Generation Children Project Phenotypes AutoAb Chronic Mucocutaneous Candidiasis. Tags
Red Red List (low evidence)	KIRREL3	1 review	Unknown	Sources Expert list Expert Review Red Next Generation Children Project Phenotypes Systemic lupus erythematous, suscpetibility to Tags
Red Red List (low evidence)	MBL2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Next Generation Children Project Phenotypes Mental retardation Tags
Red Red List (low evidence)	MEN1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Next Generation Children Project Phenotypes {Chronic infections, due to MBL deficiency}, 614372 Tags
Red Red List (low evidence)	MUTYH	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Next Generation Children Project Phenotypes Angiofibroma, somatic Carcinoid tumor of lung Multiple endocrine neoplasia 1, 131100 Lipoma, somatic Adrenal adenoma, somatic Parathyroid adenoma, somatic Tags
Red Red List (low evidence)	NFAT5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Next Generation Children Project Phenotypes Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, 132600 Adenomas, multiple colorectal, 608456 Gastric cancer, somatic, 613659 Tags
Red Red List (low evidence)	NRXN3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Next Generation Children Project Phenotypes Spinocerebellar ataxia 4, kidney papillary necrosis, IBD, recurrent sinopulmolnary infections, NFAT5 haploinsufficieny Tags
Red Red List (low evidence)	PRICKLE2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Next Generation Children Project Phenotypes Autism Tags
Red Red List (low evidence)	RNF135	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Next Generation Children Project Phenotypes Epilepsy, progressive myoclonic 5, 613832 Tags
Red Red List (low evidence)	RNF31	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Next Generation Children Project Phenotypes Macrocephaly, macrosomia, facial dysmorphism syndrome, 614192 Tags
Red Red List (low evidence)	RPS15	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Next Generation Children Project Phenotypes Polyglucosan body myopathy, early-onset, with or without immunodeficiency Tags
Red Red List (low evidence)	SART3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Next Generation Children Project Tags
Red Red List (low evidence)	SIM1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Next Generation Children Project Phenotypes Porokeratosis Tags
Red Red List (low evidence)	SLC6A20	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Next Generation Children Project Phenotypes Iminoglycinuria, digenic, 242600 Hyperglycinuria, 138500 Tags refuted
Red Red List (low evidence)	SMO	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Next Generation Children Project Phenotypes Severe obesity with neurobehavioral features Tags
Red Red List (low evidence)	TNFRSF4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Next Generation Children Project Phenotypes Basal cell carcinoma, somatic, 605462 Curry-Jones syndrome, somatic mosaic, 601707 Tags
Red Red List (low evidence)	TNFSF12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Next Generation Children Project Phenotypes ?Immunodeficiency 16, 615593 Tags
Red Red List (low evidence)	TRAF3IP2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Next Generation Children Project Phenotypes Immunodeficiency, common variable with lack of anti-pneumococcal antibody Tags
Red Red List (low evidence)	VPS35	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Next Generation Children Project Phenotypes ?Candidiasis, familial, 8, 615527 Tags

Major version comments

2020-02-27 11:37 Louise Daugherty (Genomics England Curator) promoted panel to 1.0
This panel was versioned to v1.0 and was created to support the Next Generation Children Project, University of Cambridge. The ratings of the genes, phenotypes and MOI were submitted by Dr Courtney French (University of Cambridge), Dr Karyn Megy (NIHR BioResource – Rare Diseases Study, University of Cambridge). The panel was not reviewed by the PanelApp curation team at Genomics England. The genes and ratings were based on a set of specific resources as detailed in the panel description. This panel is currently denoted as a research panel and is, as of January 2020, not part of Genomics Medicine Service.

Severe Paediatric Disorders (Version 1.184)

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