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  3. KCNA1
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Ataxia - paediatric

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

KCNA1 variants also reported in patients with epileptic encephalopathies alone. Epilepsy or seizure-related variants tend to cluster in the S1,S2,S5,S6 transmembrane domains and in the pore domain.
Created: 14 Mar 2022, 7:03 a.m. | Last Modified: 14 Mar 2022, 7:03 a.m.
Panel Version: 0.11342

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epilepsy, MONDO:0005027, KCNA1-related

Publications

Created: 14 Mar 2022, 7:03 a.m.
Last Modified: 14 Mar 2022, 7:03 a.m.
Panel version: Imported from Mendeliome panel version 0.11342

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 Ataxia_Paediatric panel version 0.46

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • EPISODIC ATAXIA, TYPE 1
  • myokymia with periodic ataxia
  • Episodic ataxia/myokymia syndrome, 160120
  • Episodic ataxia/myokymia syndrome
OMIM
176260
Clinvar variants
Variants in KCNA1
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

17 Apr 2020, 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).

17 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KCNA1 were set to

17 Apr 2020, 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

19 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 Ataxia - paediatric_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 EPISODIC ATAXIA, TYPE 1; myokymia with periodic ataxia; Episodic ataxia/myokymia syndrome, 160120; Episodic ataxia/myokymia syndrome