1. Panels
  2. Arrhythmogenic Cardiomyopathy
  3. TGFB3
STRs in panel
Prev Next
Regions in panel
Prev Next

Arrhythmogenic Cardiomyopathy

Gene: TGFB3

Red List (low evidence)
TGFB3 (transforming growth factor beta 3)
EnsemblGeneIds (GRCh38): ENSG00000119699
EnsemblGeneIds (GRCh37): ENSG00000119699
OMIM: 190230, Gene2Phenotype
TGFB3 is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Two families reported, variants in UTRs in both. One of the variants is present in 10 individuals in gnomad and was also present in unaffected family members in the original family reported, so effectively one family only. Rated as LIMITED by ClinGen. Gene is associated with LDS.
Created: 2 Aug 2020, 7:47 a.m. | Last Modified: 3 Aug 2020, 7:07 a.m.
Panel Version: 0.29

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Arrhythmogenic right ventricular dysplasia 1, MIM# 107970

Publications

Created: 2 Aug 2020, 7:47 a.m.
Last Modified: 3 Aug 2020, 7:07 a.m.
Panel version: 0.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 1, MIM# 107970
Tags
5'UTR
OMIM
190230
Clinvar variants
Variants in TGFB3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tgfb3 has been classified as Red List (Low Evidence).

2 Aug 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TGFB3 were changed from to Arrhythmogenic right ventricular dysplasia 1, MIM# 107970

2 Aug 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TGFB3 were set to

2 Aug 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TGFB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

2 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tgfb3 has been classified as Red List (Low Evidence).

2 Aug 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag 5'UTR tag was added to gene: TGFB3.

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TGFB3 was added gene: TGFB3 was added to Arrhythmogenic right ventricular cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TGFB3 was set to Unknown