1. Panels
  2. Autonomic neuropathy
  3. SCN9A
STRs in panel
Prev Next
Regions in panel
Prev Next

Autonomic neuropathy

Gene: SCN9A

Green List (high evidence)
SCN9A (sodium voltage-gated channel alpha subunit 9)
EnsemblGeneIds (GRCh38): ENSG00000169432
EnsemblGeneIds (GRCh37): ENSG00000169432
OMIM: 603415, Gene2Phenotype
SCN9A is in 9 panels

1 review

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Two unrelated Japanese families reported
Sources: Literature
Created: 11 Nov 2020, 6:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
OMIM# 243000 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IID, INCLUDED; HSAN2D,

Publications

Created: 11 Nov 2020, 6:06 a.m.

Panel version: 0.30

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • OMIM# 243000 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IID, INCLUDED
  • HSAN2D,
OMIM
603415
Clinvar variants
Variants in SCN9A
Penetrance
None
Publications
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: scn9a has been classified as Green List (High Evidence).

11 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: scn9a has been classified as Green List (High Evidence).

11 Nov 2020, Gel status: 1

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

Alison Yeung (Victorian Clinical Genetics Services)

gene: SCN9A was added gene: SCN9A was added to Autonomic neuropathy. Sources: Literature Mode of inheritance for gene: SCN9A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCN9A were set to 23596073 Phenotypes for gene: SCN9A were set to OMIM# 243000 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IID, INCLUDED; HSAN2D, Review for gene: SCN9A was set to GREEN