Cerebral vascular malformations

Gene: CEP63

Red List (low evidence)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Seckel syndrome 6 614728
OMIM
614724
Clinvar variants
Variants in CEP63
Penetrance
Complete
Publications
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

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on the 19th December 2016

15 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

15 Dec 2016, Gel status: 0

Set publications

Alice Gardham (Genomics England)

Publications for CEP63 were set to 21983783,

14 Dec 2016, Gel status: 0

Added New Source

Alice Gardham (Genomics England)

CEP63 was added to Cerebrovascular disorderspanel. Sources: Literature

14 Dec 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

CEP63 was created by agardham