Congenital Heart Defect

Gene: TAB2

Green List (high evidence)

PMID: 34456334 - Identified 11 patients with a deletion containing TAB2 (size 1.68–14.31 Mb) and 14 patients from six families with novel truncating TAB2 variants. - Twenty (80%) patients had cardiac disease, often mitral valve defects and/or cardiomyopathy, 18 (72%) had short stature and 18 (72%) had hypermobility. Twenty patients (80%) had facial features suggestive for Noonan syndrome.

Created: 3 Dec 2021, 4:18 a.m. | Last Modified: 3 Dec 2021, 4:18 a.m.

Panel Version: 0.152

Phenotypes
Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like; Congenital heart defects, nonsyndromic, 2 (MIM#614980)

Publications

• 34456334

Green List (high evidence)

- Established disease gene for congenital heart defects and cardiomyopathy (OMIM).

Created: 3 Dec 2021, 3:24 a.m. | Last Modified: 3 Dec 2021, 3:24 a.m.

Panel Version: 0.152

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like; Congenital heart defects, nonsyndromic, 2 (MIM#614980)

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