Familial dysautonomia

Gene: SCN11A

Green List (high evidence)

SCN11A (sodium voltage-gated channel alpha subunit 11)
EnsemblGeneIds (GRCh38): ENSG00000168356
EnsemblGeneIds (GRCh37): ENSG00000168356
OMIM: 604385, Gene2Phenotype
SCN11A is in 10 panels

3 reviews

Horacio Kaufmann (Felicia B. Axelrod Professor of Dysautonomia Research, Department of Neurology, Department of Neurology, NYU School of Medicine, New York)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Alice Gardham (Genomics England)

Gain of function mutations
Created: 1 Dec 2016, 2:09 p.m.
Comment when marking as ready: Recognised on G2P as causing congenital insensitivity to pain
Created: 17 Nov 2016, 3:31 p.m.

Mode of pathogenicity
Other

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Three unrelated cases for p.L811P (recent publications), plus animal studies and one mother and two children with p.L1302F
Created: 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 615548
Created: 30 Aug 2016, 10:58 a.m.
Comment on phenotypes: Variants also reported in Episodic pain syndrome, familial, 3 615552
Created: 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

1 Dec 2016, Gel status: 4

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.

24 Nov 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for SCN11A were set to 24036948; 26746779; 25118027

24 Nov 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for SCN11A were set to 24036948; 26746779

17 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

17 Nov 2016, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for SCN11A were set to 24036948

17 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

30 Aug 2016, Gel status: 1

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

26 Aug 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for SCN11A were set to Neuropathy, hereditary sensory and autonomic, type VII 615548

26 Aug 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for SCN11A were set to 24036948

26 Aug 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

SCN11A was created by sleigh

26 Aug 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

SCN11A was added to Familial dysautonomiapanel. Sources: Radboud University Medical Center, Nijmegen