Familial dysautonomia
Gene: SCN11A
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gain of function mutationsCreated: 1 Dec 2016, 2:09 p.m.
Comment when marking as ready: Recognised on G2P as causing congenital insensitivity to painCreated: 17 Nov 2016, 3:31 p.m.
Mode of pathogenicity
Other
Three unrelated cases for p.L811P (recent publications), plus animal studies and one mother and two children with p.L1302FCreated: 24 Nov 2016, 11:37 a.m.
Comment on mode of pathogenicity: Gain of function variant associated with Neuropathy, hereditary sensory and autonomic, type VII 615548Created: 30 Aug 2016, 10:58 a.m.
Comment on phenotypes: Variants also reported in Episodic pain syndrome, familial, 3 615552Created: 26 Aug 2016, 2:46 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neuropathy, hereditary sensory and autonomic, type VII 615548
Promoted to version 1 on 1st December 2016 by Alice Gardham. Currently for pilot study only patients. Will need review following pilot study results.
Publications for SCN11A were set to 24036948; 26746779; 25118027
Publications for SCN11A were set to 24036948; 26746779
This gene has been classified as Green List (High Evidence).
Publications for SCN11A were set to 24036948
This gene has been classified as Green List (High Evidence).
Mode of pathogenicity for SCN11A was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Phenotypes for SCN11A were set to Neuropathy, hereditary sensory and autonomic, type VII 615548
Publications for SCN11A were set to 24036948
SCN11A was created by sleigh
SCN11A was added to Familial dysautonomiapanel. Sources: Radboud University Medical Center, Nijmegen