TBX22

T-box 22
OMIM: 300307, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Red TBX22 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.411

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • review Unknown
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cleft palate with ankyloglossia, MIM# 303400

    Green TBX22 in Mendeliome


    Version 1.1891

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cleft palate with ankyloglossia, MIM# 303400
    • Abruzzo-Erickson syndrome, MIM# 302905

    Red TBX22 in Polydactyly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.276

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cleft palate with ankyloglossia, MIM# 303400
    • Abruzzo-Erickson syndrome, MIM# 302905

    Green TBX22 in Pierre Robin Sequence


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.47

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green TBX22 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.522

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Red TBX22 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • Expert Review
    Phenotypes
    • Cleft palate with ankyloglossia, MIM #303400

    Green TBX22 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.252

    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
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Expert Review Green
    Phenotypes
    • Cleft palate with ankyloglossia, 303400
    • Cleft palate
    • CPX
    • cleft lip
    • palate
    • CLEFT PALATE WITH OR WITHOUT ANKYLOGLOSSIA, X-LINKED
    • sub mucous cleft

    Green TBX22 in Fetal anomalies


    Version 1.255

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cleft palate with ankyloglossia, MIM# 303400
    • Abruzzo-Erickson syndrome, MIM# 302905

    Red TBX22 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • Expert Review
    Phenotypes
    • Cleft palate with ankyloglossia, MIM #303400