Skeletal dysplasia
Gene: TGFBR2
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 2 610168
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: TGFBR2; 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, 8:37 a.m.
Comment on phenotypes: Variants also reported in Colorectal cancer, hereditary nonpolyposis, type 6 614331 and Esophageal cancer 133239Created: 1 Aug 2016, 8:37 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 2 610168
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Loeys-Dietz syndrome 2 610168 for gene: TGFBR2
Source NHS GMS was added to TGFBR2. 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 TGFBR2 were set to Loeys-Dietz syndrome 2 610168
Mode of inheritance for TGFBR2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
TGFBR2 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
TGFBR2 was added to Unexplained skeletal dysplasiapanel. Sources:
TGFBR2 was created by sleigh