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Intellectual disability
Gene: TAB2

TAB2 (TGF-beta activated kinase 1/MAP3K7 binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000055208
EnsemblGeneIds (GRCh37): ENSG00000055208
OMIM: 605101, Gene2Phenotype
TAB2 is in 7 panels

6 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

Comment on list classification: This gene should be rated AMBER. Although there are four unrelated cases reported with ID, ID is part of a broad spectrum of phenotypes and the majority of cases in PMID:35971781 and other previous studies were not reported with ID as part of the phenotype.

ID has not been reported as part of the phenotype either in OMIM or in Gene2Phenotype.
Created: 14 Mar 2023, 7:09 p.m. | Last Modified: 14 Mar 2023, 7:09 p.m.

Panel Version: 4.121

4 out of 14 patients identified with heterozygous variants in TAB2 gene in PMID:35971781 were reported with global developmental delay and intellectual disability (ID). Two other patients were reported with motor delay. Although developmental delay was reported in previous studies including the one reviewed by Andrea Haworth below, none of the previous studies reported cases with ID.
Created: 14 Mar 2023, 7:05 p.m. | Last Modified: 14 Mar 2023, 7:07 p.m.

Panel Version: 4.120

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

35971781

Created: 14 Mar 2023, 7:05 p.m.
Last Modified: 14 Mar 2023, 7:07 p.m.
Panel version: 4.120

Andrea Haworth (ACGS, Congenica)

I don't know

PMID: 34741306 2021
Review of 15 new patients and 24 previously reported patients indicates that this gene is associated with cardiovascular heart disease, connective tissue disorder, and developmental delay.

From paper
"64% (25/39) of individuals with disease resulting from TAB2 single nucleotide variants (SNV) had syndromic CHD or adult-onset cardiomyopathy with one or more extra-cardiac features. The most commonly co-occurring features with CHD or cardiomyopathy were facial dysmorphism, skeletal and connective tissue defects and most subjects with TAB2 variants present as a connective tissue disorder. Notably, 53% (8/15) of our cohort displayed developmental delay"

Missense and high impact variants (nonsense, frameshift and splice donor etc) were identified. Variants are usually de novo, but have been shown to be inherited.
Created: 22 Apr 2022, 5:39 p.m. | Last Modified: 22 Apr 2022, 5:39 p.m.

Panel Version: 3.1561

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

PMID: 34741306

Created: 22 Apr 2022, 5:39 p.m.
Last Modified: 22 Apr 2022, 5:39 p.m.
Panel version: 3.1561

Arina Puzriakova (Genomics England Curator)

Following discussion with the clinical team, this gene has been demoted from Amber to Red, in accordance with the external review by Zornitza Stark
Created: 17 Aug 2020, 10:18 a.m. | Last Modified: 17 Aug 2020, 10:18 a.m.

Panel Version: 3.254

Created: 17 Aug 2020, 10:18 a.m.
Last Modified: 17 Aug 2020, 10:18 a.m.
Panel version: 3.254

Zornitza Stark (Australian Genomics)

Red List (low evidence)

ID is not part of the phenotype.
Created: 29 Feb 2020, 6:36 a.m. | Last Modified: 29 Feb 2020, 6:36 a.m.

Panel Version: 3.3

Phenotypes
Congenital heart defects, nonsyndromic, 2, MIM# 614980

Created: 29 Feb 2020, 6:36 a.m.
Last Modified: 29 Feb 2020, 6:36 a.m.
Panel version: 3.3

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : All missense/in frame
Created: 27 Jul 2017, 8:36 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

25529582

Mode of pathogenicity
Other

Created: 2 Aug 2017, 11:05 p.m.

Panel version: 1.354

Louise Daugherty (Genomics England Curator)

Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to access inclusion and pertinence to this panel.
Created: 28 Jul 2017, 4:17 p.m.

Created: 28 Jul 2017, 4:17 p.m.

Panel version: 1.327

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Amber

Phenotypes

Congenital heart defects, nonsyndromic, 2, OMIM:614980

OMIM

605101

Clinvar variants

Variants in TAB2

Penetrance

Complete

Publications

35971781

Mode of Pathogenicity

Other - please provide details in the comments

Panels with this gene