Cerebral vascular malformations
Gene: CEP152

CEP152 (centrosomal protein 152)
EnsemblGeneIds (GRCh38): ENSG00000103995
EnsemblGeneIds (GRCh37): ENSG00000103995
OMIM: 613529, Gene2Phenotype
CEP152 is in 5 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Combined reviews: Ian Berry (YNELGH) & GEL clinical team (Richard Scott & Helen Brittain) - amber in view of likely presentation with significant short stature.
Created: 29 Nov 2019, 7:03 p.m. | Last Modified: 29 Nov 2019, 7:03 p.m.

Panel Version: 1.67

Created: 29 Nov 2019, 7:03 p.m.
Last Modified: 29 Nov 2019, 7:03 p.m.
Panel version: 1.67

Alice Gardham (Genomics England)

I don't know

Comment when marking as ready: Mutations identified in several Seckel families. Recognised on G2P. Seckel associated with moyamoya and intracerebral aneurysms
Created: 15 Dec 2016, 9:02 a.m.

Moyamoya and intracerebral aneurysms associated with Seckel syndrome
Created: 14 Dec 2016, 5:21 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Seckel syndrome 5 613823

Created: 14 Dec 2016, 5:21 p.m.

Panel version: 0.57

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Yorkshire and North East GLH
NHS GMS
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
UKGTN

Phenotypes

Seckel syndrome 5, OMIM:613823

OMIM

613529

Clinvar variants

Variants in CEP152

Penetrance

Complete

Publications

21131973

Panels with this gene

History Filter Activity

25 Mar 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: CEP152 were changed from Seckel syndrome 5 613823 to Seckel syndrome 5, OMIM:613823

29 Nov 2019, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to CEP152. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

29 Nov 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to CEP152.

29 Nov 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CEP152.

19 Dec 2016, Gel status: 4