Familial non syndromic congenital heart disease

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 6 panels

4 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 4 nonsense variants reported in unrelated cases.
Watch list tag has been removed as sufficient variants have now been reported.
Created: 25 Jun 2019, 2:17 p.m. | Last Modified: 25 Jun 2019, 2:26 p.m.
Panel Version: 1.46

Ronnie Wright (North West GLH)

Green List (high evidence)

We've just reported a nonsense variant in a patient with complex congenital heart disease following clinical exome analysis. Bicuspid aortic valve, branch pulmonary stenosis, prolapsed mitral and tricuspid valves, small ASD

During the course of the variant review I found multiple examples of de novo Loss of Function variants in addition to the many gross deletions reported which include TAB2. PMID: 28135719 discusses de novo variants in developmental disorders and when checking via Decipher open access website (Patients 265804, 260227, 274309) the 3 nonsense variants included in this publication are present in patients who are all affected with congenital cardiac defects with or without short stature, minor dysmorphic facies and other features.
Created: 13 Mar 2019, 2:15 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Ellen McDonagh (Genomics England Curator)

PMID: 28386937 - in Family 1, a novel heterozygous c.1398dup variant in this gene was identified in all affected family members. In Family 2, a de novo deletion of around 2Mb at chr6q25.1 was identified in the proband which includes the TAB2 gene. A review of previous cases is also provided in Tabe 1 of this publication - 22 patients have been reported with TAB2 variants, with variable phenotypes ranging from isolated congenital heart disease to systemic conditions with multiple malformations and intellectual disability/global developmental delay. Shared features include complex CHD with predominant valve involvement, short stature and facial dysmorphism.
Created: 14 Aug 2017, 2:29 p.m.

Publications

Alice Gardham (Genomics England)

Comment when marking as ready: Recognised on G2P
Created: 30 Nov 2016, 12:09 p.m.
Only identified in two patients- one was a woman with left ventricular outflow tract obstruction, subaortic stenosis due to a fibromuscular shelf, residual aortic regurgitation, and atrial fibrillation. The other patient was a man with a bicuspid aortic valve and aortic dilation. Gene deletion identified in another family. De novo variants enriched in cohort with congenital heart disease
Created: 30 Nov 2016, 12:08 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital heart defects, nonsyndromic, 2 614980

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital heart defects, nonsyndromic, 2 614980
OMIM
605101
Clinvar variants
Variants in TAB2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

25 Jun 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

25 Jun 2019, Gel status: 2

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag watchlist was removed from gene: TAB2.

23 Apr 2019, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: TAB2 were set to 20493459, 26139517; 28386937; 28135719

23 Apr 2019, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: TAB2 were set to 20493459, 26139517; 28386937

14 Aug 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

14 Aug 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for TAB2 were set to 20493459, 26139517;28386937

26 Jan 2017, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 by Alice Gardham on 26th January

30 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

30 Nov 2016, Gel status: 1

Changed Gene Name

Alice Gardham (Genomics England)

TAB1 was changed to TAB2

30 Nov 2016, Gel status: 1

Added New Source

Alice Gardham (Genomics England)

TAB1 was added to Familial non syndromic congenital heart diseasepanel. Sources: Radboud University Medical Center, Nijmegen,Literature

30 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

TAB1 was created by agardham