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  3. TGFBR1
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Fetal anomalies

Gene: TGFBR1

Green List (high evidence)
TGFBR1 (transforming growth factor beta receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000106799
EnsemblGeneIds (GRCh37): ENSG00000106799
OMIM: 190181, Gene2Phenotype
TGFBR1 is in 16 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.
Created: 29 Apr 2019, 12:28 p.m.
DDG2P rating in original PAGE list: Confirmed for LOEYS-DIETZ SYNDROME TYPE 2A, Confirmed for LOEYS-DIETZ SYNDROME TYPE 1A, and Confirmed for AORTIC ANEURYSM FAMILIAL THORACIC TYPE 5.
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as Uncertain for all disorders.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.222

History Filter Activity

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes AORTIC ANEURYSM FAMILIAL THORACIC TYPE 5 for gene: TGFBR1

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes LOEYS-DIETZ SYNDROME TYPE 1A for gene: TGFBR1

8 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: TGFBR1 was added gene: TGFBR1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TGFBR1 were set to LOEYS-DIETZ SYNDROME TYPE 2A