Cerebral vascular malformationsGene: ACVRL1
Combined reviews with Ian Berry (YNELGH), Vijeya Ganesan (Clinical expert - GOSH / ICH) & GEL clinical team (Richard Scott / Helen Brittain): relevant phenotype and sufficient evidence for a green rating
Created: 29 Nov 2019, 6:56 p.m. | Last Modified: 29 Nov 2019, 6:56 p.m.
Panel Version: 1.67
Comment when marking as ready: Green on HHT panel
Created: 14 Dec 2016, 3:44 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Telangiectasia, hereditary hemorrhagic, type 2 600376
Phenotypes for gene: ACVRL1 were changed from Telangiectasia, hereditary hemorrhagic, type 2 600376 to Telangiectasia, hereditary hemorrhagic, type 2, OMIM; 600376
Source Yorkshire and North East GLH was added to ACVRL1.
Source NHS GMS was added to ACVRL1.
Promoted to version 1 on the 19th December 2016
This gene has been classified as Green List (High Evidence).
ACVRL1 was added to Cerebrovascular disorderspanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
ACVRL1 was created by agardham