Familial dysautonomia
Gene: SCN11AEnsemblGeneIds (GRCh38): ENSG00000168356
EnsemblGeneIds (GRCh37): ENSG00000168356
OMIM: 604385, Gene2Phenotype
SCN11A is in 9 panels
3 reviews
Horacio Kaufmann (Felicia B. Axelrod Professor of Dysautonomia Research, Department of Neurology, Department of Neurology, NYU School of Medicine, New York)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Alice Gardham (Genomics England)
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
Sarah Leigh (Genomics England Curator)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Neuropathy, hereditary sensory and autonomic, type VII 615548
- OMIM
- 604385
- Clinvar variants
- Variants in SCN11A
- Penetrance
- Complete
- Publications
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
History Filter Activity
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on 1st December 2016 by Alice Gardham. Currently for pilot study only patients. Will need review following pilot study results.
Set publications
Sarah Leigh (Genomics England Curator)Publications for SCN11A were set to 24036948; 26746779; 25118027
Set publications
Sarah Leigh (Genomics England Curator)Publications for SCN11A were set to 24036948; 26746779
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set publications
Alice Gardham (Genomics England)Publications for SCN11A were set to 24036948
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set mode of pathogenicity
Sarah Leigh (Genomics England Curator)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
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for SCN11A were set to Neuropathy, hereditary sensory and autonomic, type VII 615548
Set publications
Sarah Leigh (Genomics England Curator)Publications for SCN11A were set to 24036948
Created
Sarah Leigh (Genomics England Curator)SCN11A was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)SCN11A was added to Familial dysautonomiapanel. Sources: Radboud University Medical Center, Nijmegen