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  2. Cytopenias and congenital anaemias
  3. TCN2
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Cytopenias and congenital anaemias

Gene: TCN2

Green List (high evidence)
TCN2 (transcobalamin 2)
EnsemblGeneIds (GRCh38): ENSG00000185339
EnsemblGeneIds (GRCh37): ENSG00000185339
OMIM: 613441, Gene2Phenotype
TCN2 is in 11 panels

4 reviews

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: Marked as ready after internal review
Created: 10 Mar 2017, 12:43 p.m.
Comment when marking as ready: Marked as ready after internal review
Created: 10 Mar 2017, 12:43 p.m.
Comment when marking as ready: Marked as ready after internal review
Created: 10 Mar 2017, 12:43 p.m.
Created: 10 Mar 2017, 12:43 p.m.

Panel version: 0.532

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to green due to expert review.
Created: 22 Jul 2016, 9:44 a.m.
Created: 22 Jul 2016, 9:44 a.m.

Panel version: Imported from "Anaemias and red cell disorders" panel version 0.6

emma baple (South West GMC)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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.

Publications

Created: 6 Jan 2016, 4:23 p.m.

Panel version: Imported from "Anaemias and red cell disorders" panel version Imported from "Early onset pancytopenia and red cell disorders" panel version 0.257

Richard Scott (North Thames GMC/UCL)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 4 Jan 2016, 4:47 p.m.

Panel version: Imported from "Anaemias and red cell disorders" panel version Imported from "Early onset pancytopenia and red cell disorders" panel version 0.257

Details

Mode of Inheritance
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.
OMIM
613441
Clinvar variants
Variants in TCN2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 Mar 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

10 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Feb 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

TCN2 was added to Cytopaenias and congenital anaemiaspanel. Sources: Literature,Expert Review Green

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

TCN2 was created by LouiseD