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  3. CACNA1E
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Regression

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 7 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 30343943 - 30 patients with de novo variants and early-onset developmental and epileptic encephalopathy. Patients had developmental regression (9/30), severe hypotonia (16/30), seizures (26/30), congenital joint contractures (13/30), macrocephaly (13/30). MRI shows white matter loss, cortical atrophy
Variants showed a GOF and LOF.
Sources: Literature
Created: 6 Jul 2020, 2:03 a.m.

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

Phenotypes
Epileptic encephalopathy, early infantile, 69 618285

Publications

Mode of pathogenicity
Other

Created: 6 Jul 2020, 2:03 a.m.

Panel version: 0.121

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epileptic encephalopathy, early infantile, 69 618285
OMIM
601013
Clinvar variants
Variants in CACNA1E
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

6 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

6 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

6 Jul 2020, Gel status: 0

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

Elena Savva (Victorian Clinical Genetics Services)

gene: CACNA1E was added gene: CACNA1E was added to Regression. Sources: Literature Mode of inheritance for gene: CACNA1E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CACNA1E were set to PMID: 30343943 Phenotypes for gene: CACNA1E were set to Epileptic encephalopathy, early infantile, 69 618285 Mode of pathogenicity for gene: CACNA1E was set to Other Review for gene: CACNA1E was set to GREEN