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  3. KCNA5
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Atrial Fibrillation

Gene: KCNA5

Amber List (moderate evidence)
KCNA5 (potassium voltage-gated channel subfamily A member 5)
EnsemblGeneIds (GRCh38): ENSG00000130037
EnsemblGeneIds (GRCh37): ENSG00000130037
OMIM: 176267, Gene2Phenotype
KCNA5 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Multiple families reported. At least one with LoF variant, rest missense. The missense variants are present in the population, ranging from 2 to 40 individuals in gnomad, which raises doubt about their pathogenicity.
Created: 1 Jun 2022, 8:34 a.m. | Last Modified: 1 Jun 2022, 8:34 a.m.
Panel Version: 0.16

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Atrial fibrillation, familial, 7, MIM# 612240

Publications

Created: 1 Jun 2022, 8:34 a.m.
Last Modified: 1 Jun 2022, 8:34 a.m.
Panel version: 0.16

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Atrial fibrillation, familial, 7, MIM# 612240
OMIM
176267
Clinvar variants
Variants in KCNA5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jun 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcna5 has been classified as Amber List (Moderate Evidence).

1 Jun 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KCNA5 were changed from to Atrial fibrillation, familial, 7, MIM# 612240

1 Jun 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KCNA5 were set to

1 Jun 2022, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KCNA5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

1 Jun 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcna5 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KCNA5 was added gene: KCNA5 was added to Atrial fibrilation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KCNA5 was set to Unknown