Cytopenias and congenital anaemias
Gene: TCN2Comment when marking as ready: Marked as ready after internal reviewCreated: 10 Mar 2017, 12:43 p.m.
Comment when marking as ready: Marked as ready after internal reviewCreated: 10 Mar 2017, 12:43 p.m.
Comment when marking as ready: Marked as ready after internal reviewCreated: 10 Mar 2017, 12:43 p.m.
Comment on list classification: Promoted from red to green due to expert review.Created: 22 Jul 2016, 9:44 a.m.
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
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
TCN2 was added to Cytopaenias and congenital anaemiaspanel. Sources: Literature,Expert Review Green
TCN2 was created by LouiseD