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  3. TGFB2
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Aortopathy_Connective Tissue Disorders

Gene: TGFB2

Green List (high evidence)
TGFB2 (transforming growth factor beta 2)
EnsemblGeneIds (GRCh38): ENSG00000092969
EnsemblGeneIds (GRCh37): ENSG00000092969
OMIM: 190220, Gene2Phenotype
TGFB2 is in 11 panels

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

"Definitive" by ClinGen Aortopathy Working Group.

The ClinGen Working Group cite PMID 22772371 which describes 4 families with variants in this gene.
Created: 25 Jun 2020, 2:39 a.m. | Last Modified: 25 Jun 2020, 4:21 a.m.
Panel Version: 0.26

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Loeys-Dietz syndrome 4

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 25 Jun 2020, 2:39 a.m.
Last Modified: 25 Jun 2020, 4:21 a.m.
Panel version: 0.26

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Loeys-Dietz syndrome 4, MIM# 614816
OMIM
190220
Clinvar variants
Variants in TGFB2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tgfb2 has been classified as Green List (High Evidence).

25 Jun 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

25 Jun 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TGFB2 were set to

25 Jun 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TGFB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TGFB2 was added gene: TGFB2 was added to Aortopathy, Connective tissue disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TGFB2 was set to Unknown