1. Genes and Genomic Entities
  2. TAB2

TAB2

TGF-beta activated kinase 1/MAP3K7 binding protein 2
OMIM: 605101, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green TAB2 in Familial non syndromic congenital heart disease

Level 3: Congenital heart disease
Level 2: Cardiovascular disorders
Version 1.80

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital heart defects, nonsyndromic, 2 614980
Amber TAB2 in Dilated and arrhythmogenic cardiomyopathy

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 2.22
Latest signed off version: v2.8 (22 Mar 2023)

Component of the following Super Panels:

  • Sudden unexplained death or survivors of a cardiac event

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • London South GLH
    • NHS GMS
    • Expert Review Amber
    Phenotypes
    • Congenital heart defects, nonsyndromic, 2, OMIM:614980
    Tags
    • Q3_23_promote_green
    Green TAB2 in Fetal anomalies


    Version 3.155
    Latest signed off version: v3.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Congenital heart defects, nonsyndromic, 2, OMIM:614980
    Green TAB2 in DDG2P


    Version 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CONGENITAL HEART DISEASE, NONSYNDROMIC, 2 612863
    Amber TAB2 in Paediatric disorders - additional genes


    Version 3.9
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • London South GLH
    • NHS GMS
    • Expert Review Amber
    Phenotypes
    • Congenital heart defects, nonsyndromic, 2, OMIM:614980
    Tags
    • Q3_23_promote_green
    Amber TAB2 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Congenital heart defects, nonsyndromic, 2, OMIM:614980
    Amber TAB2 in Paediatric or syndromic cardiomyopathy


    Version 3.46
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • NHS GMS
    • London South GLH
    Phenotypes
    • Congenital heart defects, nonsyndromic, 2, OMIM:614980
    Tags
    • Q3_23_promote_green
    Green TAB2 in Severe Paediatric Disorders


    Version 1.184

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Congenital heart defects, nonsyndromic, 2, 614980