Cerebral vascular malformationsGene: SMAD3
Combined reviews: Ian Berry (YNELGH) & GEL clinical team (Richard Scott & Helen Brittain) - red in view limited utility in an isolated cerebrovascular presentation
Created: 29 Nov 2019, 7:08 p.m. | Last Modified: 29 Nov 2019, 7:08 p.m.
Panel Version: 1.67
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Loeys-Dietz syndrome 3 613795
Source Expert Review Red was added to SMAD3. Rating Changed from Green List (high evidence) to Red List (low evidence)
Source Yorkshire and North East GLH was added to SMAD3.
Source NHS GMS was added to SMAD3.
Promoted to version 1 on the 19th December 2016
This gene has been classified as Green List (High Evidence).
SMAD3 was added to Cerebrovascular disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
SMAD3 was created by agardham