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 1.76

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 2.402
Latest signed off version: v2.1 (24 Feb 2020)

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 1.84

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 1.18
Latest signed off version: v1.2 (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 1.36
Latest signed off version: v1.29 (15 Oct 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 1.450

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 2.105
Latest signed off version: v2.104 (16 Dec 2021)

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 1.638
    Latest signed off version: v1.637 (30 Jun 2021)

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

    Green TCN2 in DDG2P


    Version 2.21
    Latest signed off version: v2.2 (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 3.1002
    Latest signed off version: v3.1001 (16 Dec 2021)

    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 1.87
    Latest signed off version: v1.86 (16 Dec 2021)

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

    Green TCN2 in Severe Paediatric Disorders


    Version 1.66

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

    Green TCN2 in NewbornFullV1


    Version 0.1

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green