TBX5

T-box 5
OMIM: 601620, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels
No list TBX5 in Genomic imprinting


Version 0.149

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • PanelApp
Phenotypes
  • From the Familial non syndromic congenital heart disease gene panel
Tags
  • curated_removed
Green TBX5 in Radial dysplasia

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.24

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Holt-Oram syndrome,142900
Green TBX5 in VACTERL-like phenotypes

Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.34

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Green TBX5 in Limb disorders


Version 4.19
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Victorian Clinical Genetics Services
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert Review Green
    • Emory Genetics Laboratory
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    • London South East RGC GSTT
    • Viapath
    Phenotypes
    • Holt-Oram syndrome,142900
    • Polydactyly
    • Holt-Oram syndrome 142900
    • Radial Ray abnormality
    Amber TBX5 in Progressive cardiac conduction disease


    Version 2.6
    Latest signed off version: v2.2 (22 Mar 2023)

    Component of the following Super Panels:

  • Sudden unexplained death or survivors of a cardiac event
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • South West GLH
    • London South GLH
    Phenotypes
    • Holt-Oram syndrome, OMIM:142900
    Green TBX5 in Familial non syndromic congenital heart disease

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

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Holt-Oram syndrome, 142900
    Green TBX5 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.57
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Emory Genetics Laboratory
    • Expert list
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Holt-Oram syndrome 142900
    Amber TBX5 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, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Holt-Oram syndrome, OMIM:142900
    • Dilated cardiomyopathy
    Green TBX5 in Fetal anomalies


    Version 3.157
    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
    • HOLT-ORAM SYNDROME
    Green TBX5 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
    • HOLT-ORAM SYNDROME 142900
    Red TBX5 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.536
    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 Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Holt-Oram syndrome, 142900
    Green TBX5 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
    • Holt-Oram syndrome, 142900