Skeletal dysplasia
Gene: TGFB2

TGFB2 (transforming growth factor beta 2)
EnsemblGeneIds (GRCh38): ENSG00000092969
EnsemblGeneIds (GRCh37): ENSG00000092969
OMIM: 190220, Gene2Phenotype
TGFB2 is in 12 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Overgrowth (tall stature) syndromes with skeletal involvement 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
Loeys-Dietz syndrome 4 614816

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: TGFB2; 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 when marking as ready: Associated with phenotype in OMIM and G2P. At least four variants reported
Created: 1 Aug 2016, 8:28 a.m.

Created: 1 Aug 2016, 8:28 a.m.

Panel version: 0.1204

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 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

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
Emory Genetics Laboratory
UKGTN
Expert list
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen

Phenotypes

Loeys-Dietz syndrome 4 614816

OMIM

190220

Clinvar variants

Variants in TGFB2

Penetrance

Complete

Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Loeys-Dietz syndrome 4 614816 for gene: TGFB2

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to TGFB2. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4