SCID
Gene: TCN2EnsemblGeneIds (GRCh38): ENSG00000185339
EnsemblGeneIds (GRCh37): ENSG00000185339
OMIM: 613441, Gene2Phenotype
TCN2 is in 11 panels
3 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from red to green due to two reviewers in agreement. Is associated with Transcobalamin II deficiency.Created: 20 May 2016, 2:23 p.m.
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
-
- Expert Review Green
- 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
-
- Rare anaemia
- Childhood onset dystonia, chorea or related movement disorder
- Fetal anomalies
- Cytopenia - NOT Fanconi anaemia
- Undiagnosed metabolic disorders
- Cytopenias and congenital anaemias
- Intellectual disability
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Likely inborn error of metabolism
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Ellen McDonagh (Genomics England Curator)TCN2 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)TCN2 was added to SCIDpanel. Sources: Literature