Familial non syndromic congenital heart disease
Gene: TAB2Comment 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
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
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
Comment when marking as ready: Recognised on G2PCreated: 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 diseaseCreated: 30 Nov 2016, 12:08 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Congenital heart defects, nonsyndromic, 2 614980
Publications
Gene: tab2 has been classified as Green List (High Evidence).
Tag watchlist was removed from gene: TAB2.
Publications for gene: TAB2 were set to 20493459, 26139517; 28386937; 28135719
Publications for gene: TAB2 were set to 20493459, 26139517; 28386937
This gene has been classified as Amber List (Moderate Evidence).
Publications for TAB2 were set to 20493459, 26139517;28386937
Promoted to version 1 by Alice Gardham on 26th January
This gene has been classified as Red List (Low Evidence).
TAB1 was changed to TAB2
TAB1 was added to Familial non syndromic congenital heart diseasepanel. Sources: Radboud University Medical Center, Nijmegen,Literature
TAB1 was created by agardham