TBX22

T-box 22
OMIM: 300307, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Red TBX22 in Limb disorders


Version 2.79
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Polydactyly
    • ?Abruzzo-Erickson syndrome, 302905
    • Cleft palate with ankyloglossia, 303400
    • Radioulnar synostosis
    • upper limb anomalies
    • clinodactyly

    Amber TBX22 in Fetal anomalies


    Version 1.905
    Latest signed off version: v1.92 (21 Aug 2020)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • CLEFT PALATE, X-LINKED
    • ?Abruzzo-Erickson syndrome, 302905

    Green TBX22 in DDG2P


    Version 2.78
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CLEFT PALATE, X-LINKED 304011

    Green TBX22 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.70
    Latest signed off version: v2.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Cleft palate with ankyloglossia, 303400
    • sub mucous cleft
    • palate
    • cleft lip
    • CLEFT PALATE WITH OR WITHOUT ANKYLOGLOSSIA, X-LINKED
    • CPX
    • Cleft palate

    Red TBX22 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1677
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Cleft palate with ankyloglossia, 303400
    • ?Abruzzo-Erickson
    • syndrome, 302905

    Red TBX22 in Structural eye disease


    Version 1.132
    Latest signed off version: v1.3 (4 Mar 2020)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • NHS GMS
    Phenotypes
    • ?Abruzzo-Erickson syndrome, 302905

    Green TBX22 in Severe Paediatric Disorders


    Version 1.127

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • ?Abruzzo-Erickson syndrome, 302905
    • Cleft palate with ankyloglossia, 303400