Combined Immunodeficiency
Gene: TCN2
26 pathogenic TCN2 variants have been reported in over 40 individuals; multiple mouse models
Homologous and Compound Heterozygous TCN2 variants (deletions or insertions, nonsense mutations, and point mutations) have been reported; deletions or insertions are the most common, causing frameshifts that result in protein truncation.
Individuals usually present within the first year of life with failure to thrive, diarrhoea, anaemia, pallor and agammaglobulinaemia.Created: 17 Aug 2021, 1:22 a.m. | Last Modified: 17 Aug 2021, 1:22 a.m.
Panel Version: 0.328
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Transcobalamin II deficiency MIM# 275350; Decreased Ig levels; Megaloblastic anaemia; pancytopaenia; if untreated (B12) for prolonged periods results in intellectual disability; failure to thrive; diarrhoea; hypogammaglobulinaemia; pallor; hypotonia; respiratory infection
Publications
Gene: tcn2 has been classified as Green List (High Evidence).
Phenotypes for gene: TCN2 were changed from to Transcobalamin II deficiency MIM# 275350; Decreased Ig levels; Megaloblastic anaemia; pancytopaenia; if untreated (B12) for prolonged periods results in intellectual disability; failure to thrive; diarrhoea; hypogammaglobulinaemia; pallor; hypotonia; respiratory infection
Publications for gene: TCN2 were set to
Mode of inheritance for gene: TCN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: TCN2 was added gene: TCN2 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: TCN2 was set to Unknown