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Agranulocytosis

Gene: TCN2

Green List (high evidence)

TCN2 (transcobalamin 2)
EnsemblGeneIds (GRCh38): ENSG00000185339
EnsemblGeneIds (GRCh37): ENSG00000185339
OMIM: 613441, Gene2Phenotype
TCN2 is in 13 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: Gene added by a reviewer, and rated green by two reviewers. Ready for Version 1.
Created: 17 Dec 2015, 10:58 a.m.

emma baple (South West GMC)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Richard Scott (North Thames GMC/UCL)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • SCID
  • Congenital neutropaenia
  • Combined B and T cell defect
  • Agranulocytosis
  • A- or hypo-gammaglobulinaemia
  • Early onset pancytopenia and red cell disorders
  • Congenital anaemias
  • Inherited complement deficiency
  • intellectual disability
  • 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

17 Dec 2015, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

17 Dec 2015, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for TCN2 were set to SCID; Congenital neutropaenia; Combined B and T cell defect; Agranulocytosis; A- or hypo-gammaglobulinaemia; Early onset pancytopenia and red cell disorders; Congenital anaemias; Inherited complement deficiency; intellectual disability

17 Dec 2015, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

17 Dec 2015, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

17 Dec 2015, Gel status: 0

Created

emma baple (South West GMC)

TCN2 was created by ebaple

17 Dec 2015, Gel status: 0

Added New Source

emma baple (South West GMC)

TCN2 was added to Agranulocytosispanel. Sources: Literature