1. Panels
  2. Spontaneous coronary artery dissection
  3. TGFBR2
STRs in panel
Prev Next
Regions in panel
Prev Next

Spontaneous coronary artery dissection

Gene: TGFBR2

Green List (high evidence)
TGFBR2 (transforming growth factor beta receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000163513
EnsemblGeneIds (GRCh37): ENSG00000163513
OMIM: 190182, Gene2Phenotype
TGFBR2 is in 20 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 32897753
3x individuals with 2x missense and 1x +5G splice
both missense variants are absent in gnomad v4
reported SCADs: circumflex coronary artery, right descending posterior coronary artery and cervico-cephalic aneurysm and arterial dissection

PMID: 35092149
2x individuals from a SCAD cohort, however both without variant information

PMID: 36103205
3x SCAD individuals with 2x missense variants
p.Val387Leu has 569 hets + 1 hom in gnomad v4
p.Ala531Thr has 3 hets


Sources: Literature
Created: 27 Jun 2024, 11:14 p.m. | Last Modified: 8 Aug 2024, 12:10 a.m.
Panel Version: 0.43

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Loeys-Dietz syndrome 2 MIM#610168

Publications

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

Created: 27 Jun 2024, 11:14 p.m.
Last Modified: 8 Aug 2024, 12:10 a.m.
Panel version: 0.43

History Filter Activity

8 Aug 2024, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: TGFBR2 were set to 30071989; 27879313

27 Jun 2024, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: tgfbr2 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: tgfbr2 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

Ain Roesley (Victorian Clinical Genetics Services)

gene: TGFBR2 was added gene: TGFBR2 was added to Spontaneous coronary artery dissection. Sources: Literature Mode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TGFBR2 were set to 30071989; 27879313 Phenotypes for gene: TGFBR2 were set to Loeys-Dietz syndrome 2 MIM#610168 Review for gene: TGFBR2 was set to GREEN gene: TGFBR2 was marked as current diagnostic