Rasopathy
Gene: TAB2
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.
- Gene was previously associated with congenital heart defects and cardiomyopathy.
Sources: LiteratureCreated: 3 Dec 2021, 3:32 a.m.
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
Variants in this GENE are reported as part of current diagnostic practice
Gene: tab2 has been classified as Green List (High Evidence).
Gene: tab2 has been classified as Green List (High Evidence).
gene: TAB2 was added gene: TAB2 was added to Rasopathy. Sources: Literature Mode of inheritance for gene: TAB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TAB2 were set to PMID: 34456334 Phenotypes for gene: TAB2 were set to Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like; Congenital heart defects, nonsyndromic, 2 (MIM#614980) Review for gene: TAB2 was set to GREEN gene: TAB2 was marked as current diagnostic