SCN11A

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

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green SCN11A in Mendeliome Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548 Episodic pain syndrome, familial, 3, MIM# 615552
Red SCN11A in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Neuropathy, hereditary sensory and autonomic, type VII, MIM#615548
Green SCN11A in Hereditary Neuropathy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Phenotypes Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548 MONDO:0014244
Green SCN11A in Gastrointestinal neuromuscular disease Level 2: Gastroenterological disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548
Green SCN11A in Pain syndromes Level 2: Neurology and neurodevelopmental disorders Version 1.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Episodic pain syndrome, familial, 3, MIM# 615552
Green SCN11A in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Episodic pain syndrome
Green SCN11A in Autonomic neuropathy Level 2: Autonomic Neuropathy Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes OMIM# 615548 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII HSAN7
Red SCN11A in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category A gene Phenotypes Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548