1. Panels
  2. Hereditary Neuropathy_CMT - isolated
  3. SCN11A
STRs in panel
Prev Next
Regions in panel
Prev Next

Hereditary Neuropathy_CMT - isolated

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)

The p.Leu811Pro variant is a recurrent de novo variant.

More than 10 affected individuals reported. Variants in this gene are also associated with episodic pain.
Created: 22 May 2021, 4:18 a.m. | Last Modified: 22 May 2021, 4:18 a.m.
Panel Version: 0.177

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 22 May 2021, 4:18 a.m.
Last Modified: 22 May 2021, 4:18 a.m.
Panel version: 0.177

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548
  • MONDO:0014244
OMIM
604385
Clinvar variants
Variants in SCN11A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 May 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).

22 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SCN11A were changed from Episodic pain syndrome, familial, 3, 615552; HSAN/SFN; Neuropathy, hereditary sensory and autonomic, type VII, 615548 to Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548; MONDO:0014244

22 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SCN11A were set to

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SCN11A was added gene: SCN11A was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: SCN11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SCN11A were set to Episodic pain syndrome, familial, 3, 615552; HSAN/SFN; Neuropathy, hereditary sensory and autonomic, type VII, 615548