Cerebral vascular malformationsGene: RBBP8
Comment when marking as ready: Mutations only identified in two families with Seckel syndrome
Created: 15 Dec 2016, 9:10 a.m.
Moyamoya and intracerebral aneurysms reported in Seckel syndrome
Created: 14 Dec 2016, 5:18 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Seckel syndrome 2 606744
Source Yorkshire and North East GLH was added to RBBP8.
Source NHS GMS was added to RBBP8.
Promoted to version 1 on the 19th December 2016
This gene has been classified as Red List (Low Evidence).
Publications for RBBP8 were set to 21998596
RBBP8 was added to Cerebrovascular disorderspanel. Sources: Literature
RBBP8 was created by agardham