Skeletal dysplasia
Gene: TGFB2
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 4 614816
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: TGFB2; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least four variants reportedCreated: 1 Aug 2016, 8:28 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 4 614816
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Loeys-Dietz syndrome 4 614816 for gene: TGFB2
Source NHS GMS was added to TGFB2. 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 TGFB2 were set to Loeys-Dietz syndrome 4 614816
Mode of inheritance for TGFB2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
TGFB2 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
TGFB2 was added to Unexplained skeletal dysplasiapanel. Sources:
TGFB2 was created by sleigh