Anaemias and red cell disorders
Gene: TCN2

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

3 reviews

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: 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 "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

24305960

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

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