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  3. CACNA1E
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Fetal anomalies

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

2 reviews

Elena Savva (Victorian Clinical Genetics Services)

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, 2:02 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, 2:02 a.m.

Panel version: Imported from Arthrogryposis panel version 0.69

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 30 unrelated patients reported with heterozygous variants in this gene; primarily a seizure disorder, often with profound intellectual disability.
Sources: Expert list
Created: 25 Nov 2019, 6:20 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epileptic encephalopathy, early infantile, 69, MIM#618285

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 25 Nov 2019, 6:20 a.m.

Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.6

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Literature
  • Expert list
Phenotypes
  • Epileptic encephalopathy, early infantile, 69, MIM#618285
OMIM
601013
Clinvar variants
Variants in CACNA1E
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

11 Nov 2021, 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).

11 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CACNA1E were changed from Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia; Developmental and Epileptic Encephalopathy with Contractures Macrocephaly and Dyskinesias to Epileptic encephalopathy, early infantile, 69, MIM#618285

11 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CACNA1E were set to 30849329

11 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CACNA1E was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CACNA1E was added gene: CACNA1E was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: CACNA1E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CACNA1E were set to 30849329 Phenotypes for gene: CACNA1E were set to Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia; Developmental and Epileptic Encephalopathy with Contractures Macrocephaly and Dyskinesias Mode of pathogenicity for gene: CACNA1E was set to Other - please provide details in the comments