TTC7A

tetratricopeptide repeat domain 7A
OMIM: 609332, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green TTC7A in Inflammatory bowel disease


Level 2: Gastroenterological disorders
Version 0.121

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Gastrointestinal defects and immunodeficiency syndrome, 243150
    • Very Early Onset Inflammatory Bowel Disease (VEOIBD)

    Green TTC7A in Mendeliome


    Version 1.1902

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Gastrointestinal defects and immunodeficiency syndrome, 243150
    • Very Early Onset Inflammatory Bowel Disease (VEOIBD)

    Green TTC7A in Combined Immunodeficiency


    Level 2: Immunological disorders
    Version 1.66

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Gastrointestinal defects and immunodeficiency syndrome, 243150

    Green TTC7A in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Gastrointestinal defects and immunodeficiency syndrome, 243150 (3)

    Green TTC7A in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Immunodeficiency, combined, with intestinal atresias

    Green TTC7A in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Gastrointestinal defects and immunodeficiency syndrome, MIM# 243150

    Green TTC7A in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Gastrointestinal defects and immunodeficiency syndrome, 243150 (3)

    Red TTC7A in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    • BeginNGS
    Phenotypes
    • Immunodeficiency, combined, with intestinal atresias, MIM#243150

    Green TTC7A in Prepair 500+


    Level 2: Screening
    Version 1.1

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Gastrointestinal defects and immunodeficiency syndrome, 243150 (3)