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  3. KCNA1
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Renal Tubulopathies and related disorders

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 Hypomagnesaemia 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 Hypomagnesaemia 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
  • KidGen_Magnesium v38.1.0
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Epilepsy, MONDO:0005027, KCNA1-related
  • Episodic ataxia/myokymia syndrome, MIM# 160120
OMIM
176260
Clinvar variants
Variants in KCNA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KCNA1 was added gene: KCNA1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green Mode of inheritance for gene: KCNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNA1 were set to 32316562; 11026449 Phenotypes for gene: KCNA1 were set to Epilepsy, MONDO:0005027, KCNA1-related; Episodic ataxia/myokymia syndrome, MIM# 160120