Early onset pancytopenia and red cell disorders
Gene: TCN2EnsemblGeneIds (GRCh38): ENSG00000185339
EnsemblGeneIds (GRCh37): ENSG00000185339
OMIM: 613441, Gene2Phenotype
TCN2 is in 11 panels
2 reviews
emma baple (South West GMC)
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
Richard Scott (North Thames GMC/UCL)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
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
-
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Rare anaemia
- Intellectual disability
- Fetal anomalies
- COVID-19 research
- Undiagnosed metabolic disorders
History Filter Activity
Created
Ellen McDonagh (Genomics England Curator)TCN2 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)TCN2 was added to Early onset pancytopenia and red cell disorderspanel. Sources: Literature