Cardiomyopathy_Paediatric

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 6 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.
- Gene was previously associated with congenital heart defects and cardiomyopathy.

Created: 3 Dec 2021, 3:34 a.m. | Last Modified: 3 Dec 2021, 3:34 a.m.

Panel Version: 0.112

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)

Publications

• 34456334

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