Cerebral vascular malformationsGene: ABCC6
one report of a child with Moya Moya with two variants in this gene -both inherited from unaffected father
Created: 12 Dec 2016, 2:11 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Pseudoxanthoma elasticum 264800
Source Yorkshire and North East GLH was added to ABCC6.
Source NHS GMS was added to ABCC6.
Promoted to version 1 on the 19th December 2016
This gene has been classified as Red List (Low Evidence).
ABCC6 was added to Cerebrovascular disorderspanel. Sources: Expert list
ABCC6 was created by ellenmcdonagh