Cerebral vascular malformations
Gene: YY1AP1
Established gene-disease association with affected individuals having imaging findings having abnormalities in cerebral vessels.Created: 18 Nov 2024, 4:01 a.m. | Last Modified: 18 Nov 2024, 4:01 a.m.
Panel Version: 0.39
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
grange syndrome MONDO:0011243
Publications
Grange syndrome: multiple arterial stenoses, severe early onset hypertension, fibromuscular dysplasia, variable penetrance of brachydactyly, syndactyly, bone fragility, and learning disabilities. Missense variant reported PMID: 31633303 with moyamoya like phenotype in adult case; fibroblasts suggest that the p.Pro360Leu variant decreases the stability of the YY1AP1 protein but most LOF. PMID: 30556293 non coding variants reported (intronic variants leading to aberrant splicing)Created: 10 Mar 2021, 2:17 a.m. | Last Modified: 10 Mar 2021, 2:17 a.m.
Panel Version: 0.6652
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Grange syndrome, MIM# 602531; stenosis/occlusion of multiple arteries
Publications
gene: YY1AP1 was added gene: YY1AP1 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: YY1AP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: YY1AP1 were set to Grange syndrome, 602531