Cerebral vascular malformations
Gene: CEP63

CEP63 (centrosomal protein 63)
EnsemblGeneIds (GRCh38): ENSG00000182923
EnsemblGeneIds (GRCh37): ENSG00000182923
OMIM: 614724, Gene2Phenotype
CEP63 is in 5 panels

1 review

Alice Gardham (Genomics England)

I don't know

Comment when marking as ready: Mutations only identified in one seckel patient
Created: 15 Dec 2016, 9:05 a.m.

Moyamoya and intracerebral aneurysms associated with Seckel syndrome
Created: 14 Dec 2016, 5:23 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Seckel syndrome 6 614728

Created: 14 Dec 2016, 5:23 p.m.

Panel version: 0.58

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Yorkshire and North East GLH
NHS GMS
Expert Review Red
Literature

Phenotypes

Seckel syndrome 6 614728

OMIM

614724

Clinvar variants

Variants in CEP63

Penetrance

Complete

Publications

21983783

Panels with this gene

History Filter Activity

29 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to CEP63.

29 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CEP63.

13 Sep 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CEP63 were set to 21983783,

19 Dec 2016, Gel status: 1