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Mendeliome

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

2 reviews

Chern Lim (Victorian Clinical Genetics Services)

I don't know

Recently rated as amber in the atrial fibrillation panel.

Gene has not been curated in ClinGen.
Created: 17 Jun 2022, 2:10 a.m. | Last Modified: 17 Jun 2022, 2:10 a.m.
Panel Version: 1.73

Variants in this GENE are reported as part of current diagnostic practice

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: 24 Jun 2022, 10:37 p.m. | Last Modified: 24 Jun 2022, 10:37 p.m.
Panel Version: 1.75
Rare variants associated with AF in multiple individuals.
Created: 14 Mar 2022, 6:57 a.m. | Last Modified: 14 Mar 2022, 6:57 a.m.
Panel Version: 0.11339

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Atrial fibrillation, familial, 7, MIM# 612240

Publications

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

24 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).

14 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcna5 has been classified as Green List (High Evidence).

14 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

14 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KCNA5 were set to

14 Mar 2022, Gel status: 3

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

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