Cardiomyopathies - including childhood onsetGene: TAB2
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
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
OMIM 614980 Congenital heart defects, nonsyndromic, 2
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
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)
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