SCN11A

sodium voltage-gated channel alpha subunit 11
OMIM: 604385, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green SCN11A in Familial dysautonomia Version 1.9	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Neuropathy, hereditary sensory and autonomic, type VII 615548
Green SCN11A in Gastrointestinal neuromuscular disorders Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.12	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Neuropathy, hereditary sensory and autonomic, type VII 615548
Green SCN11A in Pain syndromes Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.9	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green BRIDGE Study Tier 1 Gene Phenotypes Familial episodic pain syndrome Hereditary sensory and autonomic neuropathy type VII Neuropathy, hereditary sensory and autonomic, type VII, 615548 Episodic pain syndrome, familial, 3, 615552
Red SCN11A in Paroxysmal central nervous system disorders Version 1.10 Signed off v.1.2 on 27 Feb 2020	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS London North GLH Wessex and West Midlands GLH Phenotypes Familial episodic pain syndrome Episodic pain syndrome, familial, 3, 615552 Hereditary sensory and autonomic neuropathy type VII Neuropathy, hereditary sensory and autonomic, type VII, 615548
Red SCN11A in Fetal anomalies Version 1.179 Signed off v.1.92 on 21 Aug 2020	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes CONGENITAL INABILITY TO EXPERIENCE PAIN
Green SCN11A in DDG2P Version 2.18 Signed off v.2.2 on 13 Feb 2020 Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL INABILITY TO EXPERIENCE PAIN EPISODIC PAIN SYNDROME, FAMILIAL 615552 Tags watchlist
Green SCN11A in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.383	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS London North GLH Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Episodic pain syndrome, familial, 3, 615552 Neuropathy, hereditary sensory and autonomic, type VII, 615548 CONGENITAL INABILITY TO EXPERIENCE PAIN
Red SCN11A in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 3.740 Signed off v.3.2 on 13 Feb 2020 Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Neuropathy, hereditary sensory and autonomic, type VII, 615548 Episodic pain syndrome, familial, 3, 615552
Green SCN11A in Hereditary neuropathy NOT PMP22 copy number Version 1.21 Signed off v.1.2 on 27 Feb 2020	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Radboud University Medical Center, Nijmegen Expert Review Green London North GLH NHS GMS NHS GMS London North GLH Phenotypes CONGENITAL INABILITY TO EXPERIENCE PAIN Neuropathy, hereditary sensory and autonomic, type VII, 615548 Episodic pain syndrome, familial, 3, 615552
Green SCN11A in Severe Paediatric Disorders Version 1.43	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Neuropathy, hereditary sensory and autonomic, type VII, 615548 Episodic pain syndrome, familial, 3, 615552