Cerebral vascular malformationsGene: CEP152
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
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
Seckel syndrome 5 613823
Phenotypes for gene: CEP152 were changed from Seckel syndrome 5 613823 to Seckel syndrome 5, OMIM:613823
Source Expert Review Amber was added to CEP152. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Source Yorkshire and North East GLH was added to CEP152.
Source NHS GMS was added to CEP152.
Promoted to version 1 on the 19th December 2016
This gene has been classified as Green List (High Evidence).
Publications for CEP152 were set to 21131973
CEP152 was added to Cerebrovascular disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
CEP152 was created by agardham