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Intellectual disability syndromic and non-syndromic

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

Lucy Spencer (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 35971781 - expansion of the phenotype, 14 patients with TAB2 variants 6 have dev delay and 4 are also listed as having ID along with other phenotype features associated with this gene.

Note- there is a previous review of this paper in the mendeilome as amber
Sources: Literature
Created: 22 Mar 2023, 2:59 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital heart defects, multiple types, 2 MONDO:0014000

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Congenital heart defects, multiple types, 2 MONDO:0014000
OMIM
605101
Clinvar variants
Variants in TAB2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Sep 2023, 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).

13 Sep 2023, 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).

22 Mar 2023, Gel status: 0

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

Lucy Spencer (Victorian Clinical Genetics Services)

gene: TAB2 was added gene: TAB2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: TAB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TAB2 were set to 35971781 Phenotypes for gene: TAB2 were set to Congenital heart defects, multiple types, 2 MONDO:0014000 Review for gene: TAB2 was set to GREEN