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Skeletal dysplasia

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

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID 36000780 - 3-generation family with caudal appendage and other sacral anomalies, as well as skeletal abnormalities including hypoplasia of iliac wings and scapulae, fusion of the carpal bones, and stenosis of the spinal canal.
Sources: Literature
Created: 6 Oct 2022, 3:49 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: 6 Oct 2022, 3:49 a.m.

Panel version: 0.213

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

6 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

6 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

6 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

6 Oct 2022, Gel status: 0

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: tab2 has been removed from the panel.

6 Oct 2022, Gel status: 0

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

Belinda Chong (Victorian Clinical Genetics Services)

gene: TAB2 was added gene: TAB2 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: TAB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TAB2 were set to 34456334; 36000780 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