Skeletal dysplasia
Gene: TGFBR1
Overgrowth (tall stature) syndromes with skeletal involvement 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
Loeys-Dietz syndrome 1 609192
Comment on list classification: Suggested by Rhoda Akilapa for removal. Making this gene grey as there is agreement from GMS musculoskeletal group (Tracy Lester). It is green on the Craniosynostosis and Ehlers Danlos panels.Created: 28 Nov 2019, 11:42 a.m. | Last Modified: 28 Nov 2019, 11:51 a.m.
Panel Version: 1.250
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: TGFBR1; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 1 Aug 2016, 8:34 a.m.
Comment on phenotypes: Variants also reported in Multiple self-healing squamous epithelioma, susceptibility to 132800Created: 1 Aug 2016, 8:34 a.m.
Tier 2Created: 17 Jun 2016, 8:09 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Loeys-Dietz syndrome 1 609192
Variants in this GENE are reported as part of current diagnostic practice
Tag curated_removed tag was added to gene: TGFBR1.
Gene: tgfbr1 has been removed from the panel.
Added phenotypes Loeys-Dietz syndrome 1 609192 for gene: TGFBR1
Source NHS GMS was added to TGFBR1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for TGFBR1 were set to Loeys-Dietz syndrome 1 609192
Mode of inheritance for TGFBR1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
TGFBR1 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
TGFBR1 was added to Unexplained skeletal dysplasiapanel. Sources:
TGFBR1 was created by sleigh