Cerebral vascular malformationsGene: SMAD4
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, 7 p.m. | Last Modified: 29 Nov 2019, 7 p.m.
Panel Version: 1.67
Comment when marking as ready: Green on HHT panel
Created: 14 Dec 2016, 3:40 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 175050
Phenotypes for gene: SMAD4 were changed from Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 175050 to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050
Source Yorkshire and North East GLH was added to SMAD4.
Source NHS GMS was added to SMAD4.
Promoted to version 1 on the 19th December 2016
This gene has been classified as Green List (High Evidence).
SMAD4 was created by agardham
SMAD4 was added to Cerebrovascular disorderspanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN