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  3. CACNA1E
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Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: CACNA1E

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

A heterozygous splice variant (c.3674+5A>G) was identified in an individual from a cohort of patients with trigonocephaly (PMID:32530565).
Sources: Literature
Created: 20 Jul 2023, 9:55 a.m.

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

Phenotypes
craniosynostosis, MONDO:0015469

Publications

Created: 20 Jul 2023, 9:55 a.m.

Panel version: 4.110

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • craniosynostosis, MONDO:0015469
OMIM
601013
Clinvar variants
Variants in CACNA1E
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Jul 2023, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: CACNA1E were changed from crannieynostosis, MONDO:0015469s to craniosynostosis, MONDO:0015469

20 Jul 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: CACNA1E was added gene: CACNA1E was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. 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 32530565; 36980886 Phenotypes for gene: CACNA1E were set to crannieynostosis, MONDO:0015469s Review for gene: CACNA1E was set to RED