Cerebral vascular malformationsGene: TGFBR1
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, 7:10 p.m. | Last Modified: 29 Nov 2019, 7:10 p.m.
Panel Version: 1.67
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Loeys-Dietz syndrome 1 609192
Source Expert Review Red was added to TGFBR1. Rating Changed from Green List (high evidence) to Red List (low evidence)
Source Yorkshire and North East GLH was added to TGFBR1.
Source NHS GMS was added to TGFBR1.
Promoted to version 1 on the 19th December 2016
This gene has been classified as Green List (High Evidence).
TGFBR1 was added to Cerebrovascular disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen
TGFBR1 was created by agardham