Skeletal dysplasia
Gene: TGFB1
Other sclerosing bone disorders gp of SD green - multiple mutations; Review on behalf of Tracy Lester/Michael OldridgeCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Camurati-Engelmann disease 131300
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: greenCreated: 6 Mar 2019, 11:37 a.m.
Comment on mode of inheritance: For Camurati-Engelmann disease 131300Created: 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.
Tier 1Created: 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
Phenotypes for gene: TGFB1 were changed from Camurati-Engelmann disease 131300; Camurati-Engelmann disease 131300 to Camurati-Engelmann disease, OMIM:131300
Added phenotypes Camurati-Engelmann disease 131300 for gene: TGFB1
Source NHS GMS was added to TGFB1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for TGFB1 were set to Camurati-Engelmann disease 131300
Mode of inheritance for TGFB1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
TGFB1 was added to Unexplained skeletal dysplasiapanel. Sources:
TGFB1 was created by sleigh