TCN2

transcobalamin 2
OMIM: 613441, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels
Green TCN2 in COVID-19 research


Level 2: Viral research
Version 1.141

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • SCID v1.6
  • A- or hypo-gammaglobulinaemia v1.25
  • London North GLH
  • NHS GMS
  • GRID V2.0
  • Congenital neutropaenia v1.22
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Combined B and T cell defect v1.12
  • Agranulocytosis v1.3
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
  • Congenital neutropaenia v1.22
  • SCID v1.6
  • Combined B and T cell defect v1.12
  • Agranulocytosis v1.3
  • A- or hypo-gammaglobulinaemia v1.25
Phenotypes
  • Transcobalamin-2 precursor
  • Transcobalamin II deficiency
  • Agammaglobulinemia
  • Megaloblastic anemia, pancytopenia, if untreated for prolonged periods results in intellectual disability
  • pancytopenia
  • Transcobalamin II deficiency, 275350
  • neutropenic colitis
  • Defects of Vitamin B12 and Folate metabolism
  • megaloblastic bone
  • can have a presentation similar to severe combined immunodeficiency
  • Combined immunodeficiencies with associated or syndromic features
Green TCN2 in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 4.201
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
  • Congenital neutropaenia v1.22
  • SCID v1.6
  • Combined B and T cell defect v1.12
  • Agranulocytosis v1.3
  • A- or hypo-gammaglobulinaemia v1.25
Phenotypes
  • Transcobalamin II deficiency, 275350
  • Transcobalamin II deficiency
  • can have a presentation similar to severe combined immunodeficiency
  • pancytopenia
  • neutropenic colitis
  • Agammaglobulinemia
  • megaloblastic bone
  • Transcobalamin-2 precursor
  • Defects of Vitamin B12 and Folate metabolism
  • Megaloblastic anemia, pancytopenia, if untreated for prolonged periods results in intellectual disability
  • Combined immunodeficiencies with associated or syndromic features
Green TCN2 in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Transcobalamin II deficiency
  • can have a presentation similar to severe combined immunodeficiency
  • pancytopenia
  • neutropenic colitis
  • Agammaglobulinemia
  • megaloblastic bone marrow
  • thrombocytopenia
  • neutropenia
  • failure to thrive
  • hypotonia, myoclonic like movements, pallor, purpura, anaemia, thrombocytopenia, megaloblastosis, aplastic bone marrow.
Green TCN2 in Rare anaemia


Version 3.8
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • North West GLH
  • Yorkshire and North East GLH
  • London South GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • megaloblastic bone marrow
  • failure to thrive
  • 275350 Transcobalamin II deficiency
  • pancytopenia
  • neutropenic colitis
  • thrombocytopenia
  • Transcobalamin II deficiency
  • neutropenia
  • hypotonia, myoclonic like movements, pallor, purpura, anaemia, thrombocytopenia, megaloblastosis, aplastic bone marrow
  • can have a presentation similar to severe combined immunodeficiency
  • Agammaglobulinemia
Amber TCN2 in Cytopenia - NOT Fanconi anaemia


Version 3.32
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert review Amber
  • NHS GMS
  • North West GLH
  • London South GLH
  • Yorkshire and North East GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Transcobalamin II deficiency, 275350
Green TCN2 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Transcobalamin II deficiency (Disorders of cobalamin absorption, transport and metabolism)
  • A- or hypo-gammaglobulinaemia
  • Agranulocytosis
  • Combined B and T cell defect
  • Congenital neutropaenia
  • Intellectual disability
  • SCID
Green TCN2 in Likely inborn error of metabolism - targeted testing not possible


Version 4.137
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    • NHS GMS
    Phenotypes
    • Congenital neutropaenia
    • Intellectual disability
    • A- or hypo-gammaglobulinaemia
    • Agranulocytosis
    • Combined B and T cell defect
    • SCID
    • Transcobalamin II deficiency (Disorders of cobalamin absorption, transport and metabolism)
    Red TCN2 in Fetal anomalies


    Version 3.155
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Transcobalamin II deficiency
    Green TCN2 in DDG2P


    Version 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Transcobalamin II deficiency
    Green TCN2 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Transcobalamin II deficiency
    • can have a presentation similar to severe combined immunodeficiency
    • pancytopenia
    • neutropenic colitis
    • Agammaglobulinemia
    • megaloblastic bone marrow
    • thrombocytopenia
    • neutropenia
    • failure to thrive
    • hypotonia, myoclonic like movements, pallor, purpura, anaemia, thrombocytopenia, megaloblastosis, aplastic bone marrow.
    Red TCN2 in Childhood onset dystonia, chorea or related movement disorder


    Version 3.75
    Latest signed off version: v3.0 (22 Mar 2023)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green TCN2 in Severe Paediatric Disorders


    Version 1.184

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Transcobalamin II deficiency, 275350