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Cardiomyopathies - including childhood onset

Gene: TAB2

Red List (low evidence)

TAB2 (TGF-beta activated kinase 1/MAP3K7 binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000055208
EnsemblGeneIds (GRCh37): ENSG00000055208
OMIM: 605101, Gene2Phenotype
TAB2 is in 6 panels

3 reviews

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

I don't know

Limited evidence for association with congeital heart disease. Need more evidence.
Created: 26 Nov 2019, 5:42 p.m. | Last Modified: 26 Nov 2019, 5:42 p.m.
Panel Version: 0.13

Phenotypes
OMIM 614980 Congenital heart defects, nonsyndromic, 2

Publications

Sarah Leigh (Genomics England Curator)

Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 4 nonsense variants reported in unrelated cases, as two cases with the same variant had dilated cardiomyopathy and two with different variants had aortic dilatation there is not sufficient for TAB2 to be green on this panel at the moment.
Created: 25 Jun 2019, 2:31 p.m. | Last Modified: 25 Jun 2019, 2:31 p.m.
Panel Version: 1.30

History Filter Activity

2 Dec 2019, Gel status: 1

Added New Source, Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Red was added to TAB2. Source NHS GMS was added to TAB2. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

4 Sep 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: TAB2 was added gene: TAB2 was added to Cardiomyopathies - including childhood onset. Sources: London South GLH,Expert Review Amber Mode of inheritance for gene: TAB2 was set to