Congenital neutropaenia

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

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with disease in OMIM and G2P. Two expert reviews recommend Green. Found in 2/4 sources.
Created: 25 May 2016, 8:07 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
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
Phenotypes
  • Transcobalamin II deficiency 275350
OMIM
613441
Clinvar variants
Variants in TCN2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

25 May 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for TCN2 were set to Transcobalamin II deficiency 275350

25 May 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

25 May 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

25 May 2016, Gel status: 2

Upload gene information

Sarah Leigh (Genomics England Curator)

TCN2 was added to Congenital neutropaeniapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services

25 May 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene TCN2 were set to Transcobalamin II deficiency, 275350;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.

4 Jan 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TCN2 was created by ellenmcdonagh

4 Jan 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TCN2 was added to Congenital neutropaeniapanel. Sources: Literature