Genomics England

TCN2

transcobalamin 2

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Transcobalamin II deficiency
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	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.
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 5.6	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)
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 5.3	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 3.0	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