Cerebral vascular malformations

Gene: CEP152

Amber List (moderate evidence)

CEP152 (centrosomal protein 152)
EnsemblGeneIds (GRCh38): ENSG00000103995
EnsemblGeneIds (GRCh37): ENSG00000103995
OMIM: 613529, Gene2Phenotype
CEP152 is in 6 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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Seckel syndrome 5 613823
OMIM
613529
Clinvar variants
Variants in CEP152
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

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

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on the 19th December 2016

15 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

15 Dec 2016, Gel status: 3

Set publications

Alice Gardham (Genomics England)

Publications for CEP152 were set to 21131973

14 Dec 2016, Gel status: 3

Added New Source

Alice Gardham (Genomics England)

CEP152 was added to Cerebrovascular disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

14 Dec 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

CEP152 was created by agardham