Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name ARX gene ARX Expert Review Amber;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Epileptic encephalopathy, early infantile, 1 308350;Hydranencephaly with abnormal genitalia 300215;Lissencephaly, X-linked 2 300215;Mental retardation, X-linked 29 and others 300419;Partington syndrome 309510;Proud syndrome 300004 Flexion contracture;HP:0001371 21416597 False 2 0;100;0 0.416 True ENSG00000004848 ENSG00000004848 HGNC:18060 ATAD1 gene ATAD1 Expert list;Expert Review Amber Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Hyperekplexia 4, MIM# 618011" Flexion contracture;HP:0001371 29659736;29390050;28180185 False 2 0;100;0 0.416 True ENSG00000138138 ENSG00000138138 HGNC:25903 ATRX gene ATRX Expert Review Amber;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Alpha-thalassemia/mental retardation syndrome, MIM# 301040 Flexion contracture;HP:0001371 20301622 False 2 0;100;0 0.416 True ENSG00000085224 ENSG00000085224 HGNC:886 B3GALT6 gene B3GALT6 Expert list;Expert Review Amber Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Al-Gazali syndrome, OMIM #609465 Flexion contracture;HP:0001371 PMID: 29443383, 25149931 False 2 0;100;0 0.416 True ENSG00000176022 ENSG00000176022 HGNC:17978 CNTN1 gene CNTN1 Expert list;Expert Review Amber Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital myopathy 12, OMIM #612540 Flexion contracture;HP:0001371 PMID:19026398 False 2 0;50;50 0.416 True ENSG00000018236 ENSG00000018236 HGNC:2171 DPM2 gene DPM2 Expert Review Amber;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iu, MIM# 615042 Flexion contracture;HP:0001371 23109149 False 2 0;100;0 0.416 True ENSG00000136908 ENSG00000136908 HGNC:3006 ERBB3 gene ERBB3 Expert Review Amber;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lethal congenital contractural syndrome 2, MIM# 607598 Flexion contracture;HP:0001371 17701904;31752936 False 2 0;100;0 0.416 True ENSG00000065361 ENSG00000065361 HGNC:3431 FAM20C gene FAM20C Expert Review Amber;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Raine syndrome, MIM# 259775 Flexion contracture;HP:0001371 False 2 0;100;0 0.416 True ENSG00000177706 ENSG00000177706 HGNC:22140 HS2ST1 gene HS2ST1 Expert Review Amber;Literature Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194;Intellectual disability;dysmorphic features;congenital anomalies;arthrogryposis Flexion contracture;HP:0001371 33159882 False 2 0;100;0 0.416 True ENSG00000153936 ENSG00000153936 HGNC:5193 ISLR2 gene ISLR2 Expert Review Amber;Literature Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal hydrocephalus;arthrogryposis;abdominal distension Flexion contracture;HP:0001371 30483960 False 2 0;0;0 0.416 True ENSG00000167178 ENSG00000167178 HGNC:29286 KIF21A gene KIF21A Expert Review Amber;Literature Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Severe fetal akinesia with arthrogryposis multiplex Flexion contracture;HP:0001371 PMID: 34740919 False 2 0;100;0 0.416 False ENSG00000139116 ENSG00000139116 HGNC:19349 MET gene MET Expert Review Amber;Literature Arthrogryposis Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Arthrogryposis, distal, type 11 (MIM#620019), AD Flexion contracture;HP:0001371 30777867 False 2 50;50;0 0.416 True ENSG00000105976 ENSG00000105976 HGNC:7029 MYLPF gene MYLPF Expert Review;Expert Review Amber Arthrogryposis Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Distal arthrogryposis type 1C (DA1C), MIM#619110 Flexion contracture;HP:0001371 32707087 False 2 50;50;0 0.416 True ENSG00000180209 ENSG00000180209 HGNC:29824 MYO9A gene MYO9A Expert Review Amber;Literature Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 24, presynaptic, MIM# 618198 Flexion contracture;HP:0001371 26752647;27259756 False 2 50;50;0 0.416 True ENSG00000066933 ENSG00000066933 HGNC:7608 NEK9 gene NEK9 Expert Review;Expert Review Amber Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lethal congenital contracture syndrome 10, MIM# 617022;Arthrogryposis, Perthes disease, and upward gaze palsy, MIM# 614262 Flexion contracture;HP:0001371 26908619;21271645 False 2 0;100;0 0.416 True ENSG00000119638 ENSG00000119638 HGNC:18591 SCYL2 gene SCYL2 Expert Review Amber;Literature Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis multiplex congenita (AMC);Zain syndrome Flexion contracture;HP:0001371 31960134;26203146 False 2 0;100;0 0.416 True ENSG00000136021 ENSG00000136021 HGNC:19286 SLC18A3 gene SLC18A3 Expert list;Expert Review Amber Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 21, presynaptic, 617239;arthrogryposis Flexion contracture;HP:0001371 28188302;27590285;31059209 False 2 0;100;0 0.416 True ENSG00000187714 ENSG00000187714 HGNC:10936 SLC9A6 gene SLC9A6 Expert Review Amber;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked syndromic, Christianson type, MIM# 300243 Flexion contracture;HP:0001371 False 2 0;100;0 0.416 True ENSG00000198689 ENSG00000198689 HGNC:11079 THOC2 gene THOC2 Expert Review Amber;Literature Arthrogryposis Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Arthrogryposis (MONDO:0008779), THOC2-related Flexion contracture;HP:0001371 PMID: 34976470;37945483 False 2 0;100;0 0.416 True ENSG00000125676 ENSG00000125676 HGNC:19073 TNNI1 gene TNNI1 Expert Review Amber;Literature Arthrogryposis Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arthrogryposis MONDO:0008779, TNNI1-related Flexion contracture;HP:0001371 34934811 False 2 0;100;0 0.416 True ENSG00000159173 ENSG00000159173 HGNC:11945 UNC50 gene UNC50 Expert Review Amber;Literature Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis multiplex congenita Flexion contracture;HP:0001371 29016857;33820833 False 2 0;100;0 0.416 True ENSG00000115446 ENSG00000115446 HGNC:16046 VRK1 gene VRK1 Expert list;Expert Review Amber Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Pontocerebellar hypoplasia type 1A, OMIM# 607596" Flexion contracture;HP:0001371 PMID: 21937992, 21937992 False 2 0;100;0 0.416 True ENSG00000100749 ENSG00000100749 HGNC:12718 ZBTB42 gene ZBTB42 Expert Review;Expert Review Amber Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lethal congenital contracture syndrome 6, MIM# 616248 Flexion contracture;HP:0001371 25055871 False 2 0;100;0 0.416 True ENSG00000179627 ENSG00000179627 HGNC:32550