Hereditary neuropathy
Gene: KCNA1EnsemblGeneIds (GRCh38): ENSG00000111262
EnsemblGeneIds (GRCh37): ENSG00000111262
OMIM: 176260, Gene2Phenotype
KCNA1 is in 17 panels
5 reviews
Louise Daugherty (Genomics England Curator)
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
Natalie Forrester (SWGLH - Bristol Genetics)
Unable to find any evidence of clear neuropathy associationCreated: 29 Apr 2019, 12:30 p.m.
Phenotypes
Hereditary Neuropathies
Rita Horvath (Institute of Genetic Medicine, Newcastle University)
Alexander Rossor (UCL Institute of Neurology)
Not a CMT geneCreated: 9 Dec 2015, 8:49 a.m.
Mary Reilly (Institute of Neurology)
Not a CMT geneCreated: 8 Dec 2015, 3:05 p.m.
Details
- Sources
-
- NHS GMS
- South West GLH
- Emory Genetics Laboratory
- Phenotypes
-
- Hereditary Neuropathies
- OMIM
- 176260
- Clinvar variants
- Variants in KCNA1
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Familial Meniere Disease
- Hereditary ataxia, adult onset
- Dystonia, chorea or related movement disorder, adult onset
- Hereditary ataxia
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy or pain disorder
- Renal tubulopathies
- Ataxia and cerebellar anomalies - childhood onset
- Skeletal muscle channelopathy
- Paroxysmal central nervous system disorders
- Neurodegenerative disorders, adult onset
- Hereditary neuropathy
- Early onset or syndromic epilepsy
- DDG2P
- Brain channelopathy
- Skeletal Muscle Channelopathies
History Filter Activity
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Hereditary Neuropathies for gene: KCNA1
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to KCNA1.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to KCNA1.
Added New Source
Ellen McDonagh (Genomics England Curator)KCNA1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory