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Rasopathy

Gene: TAB2

Green List (high evidence)
TAB2 (TGF-beta activated kinase 1/MAP3K7 binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000055208
EnsemblGeneIds (GRCh37): ENSG00000055208
OMIM: 605101, Gene2Phenotype
TAB2 is in 10 panels

1 review

Chern Lim (Victorian Clinical Genetics Services)

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.
- Gene was previously associated with congenital heart defects and cardiomyopathy.
Sources: Literature
Created: 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

Created: 3 Dec 2021, 3:32 a.m.

Panel version: 0.92

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like
  • Congenital heart defects, nonsyndromic, 2 (MIM#614980)
OMIM
605101
Clinvar variants
Variants in TAB2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tab2 has been classified as Green List (High Evidence).

3 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tab2 has been classified as Green List (High Evidence).

3 Dec 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Chern Lim (Victorian Clinical Genetics Services)

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