A- or hypo-gammaglobulinaemia
Gene: TCN2
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment when marking as ready: two green expert reviews and many publicationsCreated: 10 May 2016, 12:42 p.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
This gene has been classified as Green List (High Evidence).
Phenotypes for TCN2 were set to 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. 275350
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
TCN2 was added to A- or hypo-gammaglobulinaemiapanel. Sources: Literature
TCN2 was created by ellenmcdonagh