Skeletal dysplasia
Gene: TGFB1

TGFB1 (transforming growth factor beta 1)
EnsemblGeneIds (GRCh38): ENSG00000105329
EnsemblGeneIds (GRCh37): ENSG00000105329
OMIM: 190180, Gene2Phenotype
TGFB1 is in 7 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Other sclerosing bone disorders gp of SD green - multiple mutations; Review on behalf of Tracy Lester/Michael Oldridge
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Camurati-Engelmann disease 131300

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: TGFB1; Initial rating suggestion: green
Created: 6 Mar 2019, 11:37 a.m.

Created: 6 Mar 2019, 11:37 a.m.

Panel version: 1.146

Sarah Leigh (Genomics England Curator)

Comment on mode of inheritance: For Camurati-Engelmann disease 131300
Created: 8 Jul 2016, 12:34 p.m.

Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)
Created: 21 Jun 2016, 1:13 p.m.

Created: 21 Jun 2016, 1:13 p.m.

Panel version: 0.86

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 17 Jun 2016, 8:09 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Camurati-Engelmann disease 131300; {Cystic fibrosis lung disease, modifier of} 219700

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Jun 2016, 8:09 a.m.

Panel version: 0.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Expert Review Green

Phenotypes

Camurati-Engelmann disease, OMIM:131300

OMIM

190180

Clinvar variants

Variants in TGFB1

Penetrance

Complete

Panels with this gene

History Filter Activity

10 Oct 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Camurati-Engelmann disease 131300 for gene: TGFB1

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to TGFB1. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4