Osteopetrosis

Gene: TGFB1

Green List (high evidence)

TGFB1 (transforming growth factor beta 1)
EnsemblGeneIds (GRCh38): ENSG00000105329
EnsemblGeneIds (GRCh37): ENSG00000105329
OMIM: 190180, Gene2Phenotype
TGFB1 is in 8 panels

1 review

Eleanor Williams (Genomics England Curator)

This gene has been added to the panel as green on the recommendation of GMS specialist disease group experts.
Created: 20 Aug 2020, 4:32 p.m. | Last Modified: 20 Aug 2020, 4:32 p.m.
Panel Version: 0.3

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Camurati-Engelmann disease OMIM:131300
OMIM
190180
Clinvar variants
Variants in TGFB1
Penetrance
None
Panels with this gene

History Filter Activity

15 Mar 2021, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: TGFB1 were changed from Camurati-Engelmann disease 131300 to Camurati-Engelmann disease OMIM:131300

20 Aug 2020, Gel status: 3

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

Catherine Snow (Genomics England)

gene: TGFB1 was added gene: TGFB1 was added to Osteopetrosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TGFB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TGFB1 were set to Camurati-Engelmann disease 131300