Cerebral vascular malformations
Gene: TGFBR1EnsemblGeneIds (GRCh38): ENSG00000106799
EnsemblGeneIds (GRCh37): ENSG00000106799
OMIM: 190181, Gene2Phenotype
TGFBR1 is in 16 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Combined reviews: Ian Berry (YNELGH) & GEL clinical team (Richard Scott & Helen Brittain) - red in view limited utility in an isolated cerebrovascular presentationCreated: 29 Nov 2019, 7:10 p.m. | Last Modified: 29 Nov 2019, 7:10 p.m.
Panel Version: 1.67
Alice Gardham (Genomics England)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Loeys-Dietz syndrome 1 609192
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Yorkshire and North East GLH
- NHS GMS
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Loeys-Dietz syndrome 1 609192
- OMIM
- 190181
- Clinvar variants
- Variants in TGFBR1
- Penetrance
- Complete
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection (GMS)
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Clefting
- COVID-19 research
- Cerebral vascular malformations
- Pneumothorax - familial
- Thoracic aortic aneurysm or dissection
- Arthrogryposis
- Ehlers Danlos syndrome with a likely monogenic cause
- Skeletal dysplasia
- Fetal anomalies
- Gastrointestinal epithelial barrier disorders
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Intellectual disability
History Filter Activity
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)
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to TGFBR1.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to TGFBR1.
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on the 19th December 2016
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
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
Created
Alice Gardham (Genomics England)TGFBR1 was created by agardham