Renal tubulopathies

Gene: KCNA1

Red List (low evidence)

KCNA1 (potassium voltage-gated channel subfamily A member 1)
EnsemblGeneIds (GRCh38): ENSG00000111262
EnsemblGeneIds (GRCh37): ENSG00000111262
OMIM: 176260, Gene2Phenotype
KCNA1 is in 17 panels

1 review

Eleanor Williams (Genomics England Curator)

Red List (low evidence)

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 provided
Created: 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

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