Agranulocytosis
Gene: TCN2EnsemblGeneIds (GRCh38): ENSG00000185339
EnsemblGeneIds (GRCh37): ENSG00000185339
OMIM: 613441, Gene2Phenotype
TCN2 is in 11 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)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Richard Scott (North Thames GMC/UCL)
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
-
- Cytopenia - NOT Fanconi anaemia
- Likely inborn error of metabolism
- Intellectual disability
- Rare anaemia
- Cytopenias and congenital anaemias
- COVID-19 research
- Undiagnosed metabolic disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- DDG2P
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
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
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
Created
emma baple (South West GMC)TCN2 was created by ebaple
Added New Source
emma baple (South West GMC)TCN2 was added to Agranulocytosispanel. Sources: Literature