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  3. TGFB2
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Clefting

Gene: TGFB2

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

1 review

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

I don't know

Recently described as a cause of Loeys-Dietz syndrome. Only a small number of cases have been described in the literature, but clefting has been a feature in some cases.
Sources: Literature
Created: 12 Sep 2018, 12:48 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Loeys-Dietz syndrome

Publications

Created: 12 Sep 2018, 12:48 p.m.

Panel version: 1.29

History Filter Activity

3 Oct 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: TGFB2 were changed from Loeys-Dietz syndrome to Loeys-Dietz syndrome 4, 614816

12 Sep 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

gene: TGFB2 was added gene: TGFB2 was added to Clefting. Sources: Literature Mode of inheritance for gene: TGFB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TGFB2 were set to 29392890 Phenotypes for gene: TGFB2 were set to Loeys-Dietz syndrome Review for gene: TGFB2 was set to AMBER