1. Panels
  2. Craniosynostosis
  3. TGFBR1
STRs in panel
Prev Next
Regions in panel
Prev Next

Craniosynostosis

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 19 panels

1 review

Tiong Tan (Victorian Clinical Genetics Services)

Green List (high evidence)

Craniosynostosis is a well-established feature of LDS - TGFBR1, TGFBR2 and SMAD3
Sources: Literature
Created: 17 Jun 2020, 1:20 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Loeys-Dietz syndrome

Publications

Created: 17 Jun 2020, 1:20 p.m.

Panel version: 0.64

History Filter Activity

17 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Tiong Tan (Victorian Clinical Genetics Services)

Gene: tgfbr1 has been classified as Green List (High Evidence).

17 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Tiong Tan (Victorian Clinical Genetics Services)

Gene: tgfbr1 has been classified as Green List (High Evidence).

17 Jun 2020, Gel status: 1

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

Tiong Tan (Victorian Clinical Genetics Services)

gene: TGFBR1 was added gene: TGFBR1 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TGFBR1 were set to 15731757 Phenotypes for gene: TGFBR1 were set to Loeys-Dietz syndrome Penetrance for gene: TGFBR1 were set to Complete Review for gene: TGFBR1 was set to GREEN