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  3. KCNA1
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Skeletal Muscle Channelopathies

Gene: KCNA1

Green List (high evidence)
KCNA1 (potassium voltage-gated channel subfamily A member 1)
EnsemblGeneIds (GRCh38): ENSG00000111262
EnsemblGeneIds (GRCh37): ENSG00000111262
OMIM: 176260, Gene2Phenotype
KCNA1 is in 12 panels

1 review

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

Both LoF and DN reported. The one truncating (not NMD) reported has been shown to cause DN, whereas missense have been associated with both LoF and DN (PMID: 11026449; OMIM).
Created: 4 Feb 2020, 9:10 p.m. | Last Modified: 4 Feb 2020, 9:10 p.m.
Panel Version: 0.46

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Episodic ataxia/myokymia syndrome 160120 AD

Publications

Mode of pathogenicity
Other

Created: 4 Feb 2020, 9:10 p.m.
Last Modified: 4 Feb 2020, 9:10 p.m.
Panel version: Imported from Mendeliome panel version Imported from Ataxia - paediatric panel version Imported from Ataxia_Paediatric panel version 0.46

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • EA1
  • Episodic ataxia/myokymia syndrome, 160120
  • Myokymia
  • Episodic Ataxia
  • Episodic Ataxia, Type 1
OMIM
176260
Clinvar variants
Variants in KCNA1
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

16 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcna1 has been classified as Green List (High Evidence).

16 Jan 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KCNA1 were set to

16 Jan 2021, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: KCNA1 was changed from to Other

16 Jan 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KCNA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

30 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: KCNA1 was added gene: KCNA1 was added to Skeletal Muscle Channelopathies_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: KCNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCNA1 were set to EA1; Episodic ataxia/myokymia syndrome, 160120; Myokymia; Episodic Ataxia; Episodic Ataxia, Type 1