Cerebral vascular malformations
Gene: CEP63

CEP63 (centrosomal protein 63)
EnsemblGeneIds (GRCh38): ENSG00000182923
EnsemblGeneIds (GRCh37): ENSG00000182923
OMIM: 614724, Gene2Phenotype
CEP63 is in 6 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Red List (low evidence)

Cerebral vascular anomalies is not an associated phenotype with this gene.
Created: 25 Nov 2024, 2:47 a.m. | Last Modified: 25 Nov 2024, 2:47 a.m.

Panel Version: 0.39

Created: 25 Nov 2024, 2:47 a.m.
Last Modified: 25 Nov 2024, 2:47 a.m.
Panel version: 0.39

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Genomics England PanelApp

Phenotypes

Seckel syndrome 6 614728

OMIM

614724

Clinvar variants

Variants in CEP63

Penetrance

None

Publications

21983783

Panels with this gene

History Filter Activity

26 Nov 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cep63 has been classified as Red List (Low Evidence).

18 May 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CEP63 was added gene: CEP63 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: CEP63 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP63 were set to 21983783 Phenotypes for gene: CEP63 were set to Seckel syndrome 6 614728

Cerebral vascular malformations Gene: CEP63