1. Genes and Genomic Entities
  2. TBX2

TBX2

T-box 2
OMIM: 600747, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber TBX2 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 9.9
Latest signed off version: v9.0 (6 May 2026)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Vertebral anomalies and variable endocrine and T-cell dysfunction, OMIM:618223
    • vertebral anomalies and variable endocrine and T-cell dysfunction, MONDO:0032607
    • chondrodysplasia, MONDO:0022723
    Tags
    • Q2_26_promote_green
    Amber TBX2 in Monogenic hearing loss


    Level 2: Audiology
    Version 6.10
    Latest signed off version: v6.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • hearing loss disorder, MONDO:0005365
    Tags
    • microdeletion
    • Q4_25_promote_green