Cerebral vascular malformations

Gene: TGFBR1

Red List (low evidence)

TGFBR1 (transforming growth factor beta receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000106799
EnsemblGeneIds (GRCh37): ENSG00000106799
OMIM: 190181, Gene2Phenotype
TGFBR1 is in 19 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

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

Alice Gardham (Genomics England)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Loeys-Dietz syndrome 1 609192

History Filter Activity

29 Nov 2019, Gel status: 1

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to TGFBR1. Rating Changed from Green List (high evidence) to Red List (low evidence)

29 Nov 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to TGFBR1.

29 Nov 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to TGFBR1.

19 Dec 2016, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on the 19th December 2016

15 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

14 Dec 2016, Gel status: 3

Added New Source

Alice Gardham (Genomics England)

TGFBR1 was added to Cerebrovascular disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen

14 Dec 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

TGFBR1 was created by agardham