TCN2

transcobalamin 2
OMIM: 613441, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green TCN2 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.114

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Transcobalamin II deficiency, MIM#275350

    Green TCN2 in Mendeliome


    Version 1.2374

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Transcobalamin II deficiency, 275350

    Green TCN2 in Combined Immunodeficiency


    Level 2: Immunological disorders
    Version 1.115

    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
    • Transcobalamin II deficiency MIM# 275350
    • Decreased Ig levels
    • Megaloblastic anaemia
    • pancytopaenia
    • if untreated (B12) for prolonged periods results in intellectual disability
    • failure to thrive
    • diarrhoea
    • hypogammaglobulinaemia
    • pallor
    • hypotonia
    • respiratory infection

    Green TCN2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Transcobalamin II deficiency, 275350

    Green TCN2 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
    • Transcobalamin II deficiency, 275350 (3)

    Green TCN2 in Red cell disorders


    Level 2: Haematological disorders
    Version 1.29

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Yorkshire and North East GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • North West GLH
    • London South GLH
    Phenotypes
    • Transcobalamin II deficiency MIM# 275350
    • Decreased Ig levels
    • Megaloblastic anaemia
    • pancytopaenia
    • Reticulocytopaenia
    • failure to thrive
    • diarrhoea
    • hypogammaglobulinaemia
    • pallor
    • hypotonia
    • respiratory infection
    • if untreated (B12) for prolonged periods results in intellectual disability

    Red TCN2 in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Transcobalamin II deficiency, 275350

    Green TCN2 in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Transcobalamin II deficiency, 275350 (3)

    Green TCN2 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BeginNGS
    Phenotypes
    • Transcobalamin II deficiency MIM# 275350
    Tags
    • treatable
    • metabolic

    Green TCN2 in Prepair 500+


    Level 2: Screening
    Version 1.5

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Transcobalamin II deficiency, 275350 (3)

    Green TCN2 in Vitamin metabolism disorders


    Level 2: Metabolic disorders
    Version 1.7

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Expert list
    Phenotypes
    • Transcobalamin II deficiency, 275350