Bone Marrow Failure

Gene: TCN2

Green List (high evidence)

TCN2 (transcobalamin 2)
EnsemblGeneIds (GRCh38): ENSG00000185339
EnsemblGeneIds (GRCh37): ENSG00000185339
OMIM: 613441, Gene2Phenotype
TCN2 is in 11 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

26 pathogenic TCN2 variants have been reported in over 40 individuals; Bi-allelic (deletions, insertions, nonsense, mutations) variants have been reported; multiple mouse models

Transcobalamin II deficiency is characterised by early onset (infancy) failure to thrive, megaloblastic anaemia, immunodeficiency and pancytopaenia. Other features include methylmalonic aciduria, recurrent infections, hypogammaglobulinaemia, pallor, hypotonia and vomiting and diarrhoea. Treatment with cobalamin (B12) may be of clinical benefit, but left untreated may result in intellectual disability and neurologic abnormalities.
Sources: Expert list
Created: 12 Dec 2023, 10:22 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Transcobalamin II deficiency, MIM#275350

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

15 Dec 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tcn2 has been classified as Green List (High Evidence).

12 Dec 2023, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: tcn2 has been classified as Green List (High Evidence).

12 Dec 2023, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: tcn2 has been classified as Green List (High Evidence).

12 Dec 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Chirag Patel (Genetic Health Queensland)

gene: TCN2 was added gene: TCN2 was added to Bone Marrow Failure. Sources: Expert list Mode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TCN2 were set to PMID: 24305960, 7980584, 7849710, 20352340, 18956254, 32841161, 33023511, 30124850 Phenotypes for gene: TCN2 were set to Transcobalamin II deficiency, MIM#275350 Review for gene: TCN2 was set to GREEN gene: TCN2 was marked as current diagnostic