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  3. TGFB2
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Spontaneous coronary artery dissection

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

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)


PMID: 33125268:
2x missense in SCAD individuals

PMID: 36103205
1x individual with missense and peripartum SCAD


Sources: Literature
Created: 27 Jun 2024, 11:04 p.m. | Last Modified: 7 Aug 2024, 10:38 p.m.
Panel Version: 0.39

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Loeys-Dietz syndrome 4 MIM#614816

Publications

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

Created: 27 Jun 2024, 11:04 p.m.
Last Modified: 7 Aug 2024, 10:38 p.m.
Panel version: 0.39

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Loeys-Dietz syndrome 4 MIM#614816
OMIM
190220
Clinvar variants
Variants in TGFB2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

7 Aug 2024, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: TGFB2 were set to 30071989; 22772371

27 Jun 2024, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

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

27 Jun 2024, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

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

27 Jun 2024, Gel status: 1

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: TGFB2 was added gene: TGFB2 was added to Spontaneous coronary artery dissection. Sources: Literature Mode of inheritance for gene: TGFB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TGFB2 were set to 30071989; 22772371 Phenotypes for gene: TGFB2 were set to Loeys-Dietz syndrome 4 MIM#614816 Penetrance for gene: TGFB2 were set to Complete Review for gene: TGFB2 was set to GREEN gene: TGFB2 was marked as current diagnostic