TCN2

transcobalamin 2
OMIM: 613441
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Transcobalamin II deficiency
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital neutropaenia, Intellectual disability, A- or hypo-gammaglobulinaemia, Agranulocytosis, Combined B and T cell defect, SCID, Transcobalamin II deficiency (Disorders of cobalamin absorption, transport and metabolism)
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
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.
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Transcobalamin II deficiency, 275350, Transcobalamin II deficiency, can have a presentation similar to severe combined immunodeficiency, pancytopenia, neutropenic colitis, Agammaglobulinemia, megaloblastic bone, Transcobalamin-2 precursor, Defects of Vitamin B12 and Folate metabolism, Megaloblastic anemia, pancytopenia, if untreated for prolonged periods results in intellectual disability, Combined immunodeficiencies with associated or syndromic features
Green
in Rare anaemia
R-numbers: R92
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
megaloblastic bone marrow, failure to thrive, 275350 Transcobalamin II deficiency, pancytopenia, neutropenic colitis, thrombocytopenia, Transcobalamin II deficiency, neutropenia, hypotonia, myoclonic like movements, pallor, purpura, anaemia, thrombocytopenia, megaloblastosis, aplastic bone marrow, can have a presentation similar to severe combined immunodeficiency, Agammaglobulinemia