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DDG2P

Gene: KCNA1

Red List (low evidence)
KCNA1 (potassium voltage-gated channel subfamily A member 1)
EnsemblGeneIds (GRCh38): ENSG00000111262
EnsemblGeneIds (GRCh37): ENSG00000111262
OMIM: 176260, Gene2Phenotype
KCNA1 is in 17 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for KCNA1-related epileptic encephalopathy are limited, biallelic_autosomal and undetermined (PMID:31586945). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03173. The DDG2P confidence category, allelic requirement and molecular mechanism for KCNA1-related epileptic encephalopathy are limited, monoallelic_autosomal and undetermined (PMIDs: 19205071, 30055040, 32705822, 33355533, 34778950, 36793218). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03174.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease KCNA1-related epileptic encephalopathy, biallelic is limited. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID:31586945). The DDG2P confidence category for the disease KCNA1-related epileptic encephalopathy, monoallelic is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 33355533;30055040).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
KCNA1-related epileptic encephalopathy, monoallelic; MONDO:0100062; KCNA1-related epileptic encephalopathy; KCNA1-related epileptic encephalopathy, biallelic

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

History Filter Activity

16 Feb 2026, Gel status: 1

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: KCNA1 was changed from Other to None

4 Oct 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: KCNA1 was added gene: KCNA1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: KCNA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: KCNA1 were set to 30055040; 33355533; 31586945 Phenotypes for gene: KCNA1 were set to KCNA1-related epileptic encephalopathy, biallelic; KCNA1-related epileptic encephalopathy, monoallelic Mode of pathogenicity for gene: KCNA1 was set to Other