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  2. Gastrointestinal neuromuscular disease
  3. SCN11A
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Gastrointestinal neuromuscular disease

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 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Gastrointestinal dysmotility reported.
Sources: Expert list
Created: 31 Jul 2021, 1:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548

Publications

Created: 31 Jul 2021, 1:52 a.m.

Panel version: 1.11

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548
OMIM
604385
Clinvar variants
Variants in SCN11A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: scn11a has been classified as Green List (High Evidence).

31 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: scn11a has been classified as Green List (High Evidence).

31 Jul 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SCN11A was added gene: SCN11A was added to Gastrointestinal neuromuscular disease. Sources: Expert list Mode of inheritance for gene: SCN11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCN11A were set to 27503742; 25118027 Phenotypes for gene: SCN11A were set to Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548 Review for gene: SCN11A was set to GREEN