Renal tubulopathies
Gene: KCNA1
KCNA1 (potassium voltage-gated channel subfamily A member 1)
EnsemblGeneIds (GRCh38): ENSG00000111262
EnsemblGeneIds (GRCh37): ENSG00000111262
OMIM: 176260, Gene2Phenotype
KCNA1 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000111262
EnsemblGeneIds (GRCh37): ENSG00000111262
OMIM: 176260, Gene2Phenotype
KCNA1 is in 17 panels
1 review
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group; Gene Symbol submitted: KCNA1; Suggested initial gene rating: red; Evidence for inclusion: Glaudemans et al J Clin Invest.2009 Apr;119(4):936-42. PMID 19307729 , 1 large family, all other cases EA1; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none providedCreated: 3 Feb 2019, 11:32 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Autosomal dominant hypomagnesemia (no MIM #); Episodic ataxia/myokymia syndrome MIM 160120
Publications
- Glaudemans et al J Clin Invest.2009 Apr 119(4):936-42. PMID 19307729
Variants in this GENE are reported as part of current diagnostic practice
Details
- Sources
-
- NHS GMS
- Phenotypes
-
- Autosomal dominant hypomagnesemia
- Episodic ataxia/myokymia syndrome,160120
- OMIM
- 176260
- Clinvar variants
- Variants in KCNA1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Early onset or syndromic epilepsy
- DDG2P
- Renal tubulopathies
- Intellectual disability
- Skeletal muscle channelopathy
- Adult onset neurodegenerative disorder
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary ataxia
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Paroxysmal central nervous system disorders
- Hereditary neuropathy or pain disorder
- Familial Meniere Disease
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
17 Jun 2019, Gel status: 1
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: KCNA1 were changed from to Autosomal dominant hypomagnesemia; Episodic ataxia/myokymia syndrome,160120
17 Jun 2019, Gel status: 1
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: KCNA1 were set to
3 Feb 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: KCNA1 was added gene: KCNA1 was added to Renal tubulopathies. Sources: NHS GMS Mode of inheritance for gene: KCNA1 was set to