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
-
- Childhood onset dystonia, chorea or related movement disorder
- Renal tubulopathies
- Adult onset neurodegenerative disorder
- Ataxia and cerebellar anomalies - narrow panel
- Skeletal muscle channelopathy
- Paroxysmal central nervous system disorders
- Early onset or syndromic epilepsy
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Adult onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- DDG2P
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Hereditary neuropathy
- Familial Meniere Disease
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