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DDG2P

Gene: CACNA1E

Green List (high evidence)
CACNA1E (calcium voltage-gated channel subunit alpha1 E)
EnsemblGeneIds (GRCh38): ENSG00000198216
EnsemblGeneIds (GRCh37): ENSG00000198216
OMIM: 601013, Gene2Phenotype
CACNA1E is in 6 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:30343943).
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
Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 3.12

Rebecca Foulger (Genomics England curator)

Added 'watchlist' tag to highlight different G2P ratings for different disorders.
Created: 27 Nov 2019, 10:10 p.m. | Last Modified: 27 Nov 2019, 10:10 p.m.
Panel Version: 1.155
Comment on list classification: Updated rating from Amber to Green based on new 'confirmed' gene-disease association added to DD-G2P in March 2019: Developmental and Epileptic Encephalopathy with Contractures Macrocephaly and Dyskinesias. At the time of curation, the existing disorder (Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia) still has the DD-G2P Disease confidence of 'probable'.
Created: 19 Apr 2019, 2:26 p.m.
New gene:disorder association added to DDG2P in March 2019: Developmental and Epileptic Encephalopathy with Contractures Macrocephaly and Dyskinesias. DDG2P Disease confidence: confirmed. DDG2P mode of pathogenicity/mutation consequence: activating. DDG2P mode of inheritance: monoallelic.
Created: 19 Apr 2019, 2:20 p.m.
New gene:disorder association added to DDG2P on 26/11/2018: Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia. Original DDG2P rating for Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia: probable. MOP for Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia listed as gain of function.
Created: 6 Dec 2018, 11 a.m.
Created: 6 Dec 2018, 11 a.m.

Panel version: 1.155

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia
OMIM
601013
Clinvar variants
Variants in CACNA1E
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

6 Oct 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag watchlist was removed from gene: CACNA1E.

4 Oct 2023, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene CACNA1E was changed from Other - please provide details in the comments to Other

27 Nov 2019, Gel status: 3

Added Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist tag was added to gene: CACNA1E.

19 Apr 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: cacna1e has been classified as Green List (High Evidence).

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: New gene:disorder association

6 Dec 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: CACNA1E was added gene: CACNA1E was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CACNA1E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CACNA1E were set to 30343943 Phenotypes for gene: CACNA1E were set to Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia Mode of pathogenicity for gene: CACNA1E was set to Other - please provide details in the comments