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  3. TCN2
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Congenital anaemias

Gene: TCN2

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

2 reviews

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: 0.94

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: 0.94

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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

4 Jan 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TCN2 was added to Congenital anaemiaspanel. Sources: Literature

4 Jan 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TCN2 was created by ellenmcdonagh