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  2. Autonomic neuropathy
  3. SCN11A
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Autonomic neuropathy

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

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Sources: Literature
Created: 11 Nov 2020, 5:10 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
OMIM# 615548 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII; HSAN7

Variants in this GENE are reported as part of current diagnostic practice

Created: 11 Nov 2020, 5:10 a.m.

Panel version: 0.6

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • OMIM# 615548 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII
  • HSAN7
OMIM
604385
Clinvar variants
Variants in SCN11A
Penetrance
None
Panels with this gene

History Filter Activity

11 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

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

11 Nov 2020, Gel status: 1

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: scn11a has been classified as Red List (Low Evidence).

11 Nov 2020, Gel status: 1

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

Alison Yeung (Victorian Clinical Genetics Services)

gene: SCN11A was added gene: SCN11A was added to Autonomic neuropathy. Sources: Literature Mode of inheritance for gene: SCN11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SCN11A were set to OMIM# 615548 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII; HSAN7 Review for gene: SCN11A was set to GREEN gene: SCN11A was marked as current diagnostic