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DDG2P

Gene: CACNA1A

Green List (high evidence)
CACNA1A (calcium voltage-gated channel subunit alpha1 A)
EnsemblGeneIds (GRCh38): ENSG00000141837
EnsemblGeneIds (GRCh37): ENSG00000141837
OMIM: 601011, Gene2Phenotype
CACNA1A is in 23 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for CACNA1A-related epileptic encephalopathy are strong, monoallelic_autosomal and undetermined (PMIDs: 11342703, 11812585, 23934111, 27476654, 28742085, 28927557, 29366381). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00626.
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 EPILEPTIC ENCEPHALOPATHY is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 28927557;28742085;29366381;27476654;23934111).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
CACNA1A-related epileptic encephalopathy; MONDO:0014917; EPILEPTIC ENCEPHALOPATHY; OMIM:617106.0

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

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: probable. DDG2P mode of pathogenicity: all missense/in frame
Created: 19 Nov 2018, 11:29 a.m.
Created: 19 Nov 2018, 11:29 a.m.

Panel version: 0.2

History Filter Activity

13 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: CACNA1A was changed from Other to None

4 Oct 2023, Gel status: 3

Added New Source, Set mode of pathogenicity, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to CACNA1A. Mode of pathogenicity for gene CACNA1A was changed from Other - please provide details in the comments to Other Publications for gene: CACNA1A were updated from 27476654; 28927557; 28742085; 23934111; 29366381 to 28927557; 27476654; 23934111; 29366381; 28742085 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: probabl

19 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: CACNA1A was added gene: CACNA1A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CACNA1A were set to 27476654; 28927557; 28742085; 23934111; 29366381 Phenotypes for gene: CACNA1A were set to EPILEPTIC ENCEPHALOPATHY Mode of pathogenicity for gene: CACNA1A was set to Other - please provide details in the comments