TCN2

transcobalamin 2
OMIM: 613441, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green TCN2 in COVID-19 research


Level 2: Viral research
Version 0.332

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


Version 2.175
Signed off v.2.1 on 24 Feb 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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 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 1.73

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 1.4
Signed off v.1.2 on 3 Mar 2020

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 1.6
Signed off v.1.2 on 3 Mar 2020

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 1.414

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 Inborn errors of metabolism


Version 2.8
Signed off v.2.3 on 17 Feb 2020

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 1.73
    Signed off v.1.2 on 17 Feb 2020

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

    Green TCN2 in DDG2P


    Version 2.8
    Signed off v.2.2 on 13 Feb 2020

    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

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.73
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 or chorea or related movement disorder


    Version 1.4
    Signed off v.1.2 on 25 Feb 2020

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green TCN2 in Severe Paediatric Disorders


    Version 1.6

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

    Green TCN2 in Immunological disorders_SuperPanel_PanelAppAustralia


    Level 2: Immunological disorders
    Version 0.3

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship