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Prepair 1000+

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

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Autosomal recessive disorder with onset in early infancy characterised by failure to thrive, megaloblastic anemia, and pancytopenia. Other features include methylmalonic aciduria, recurrent infections, and vomiting and diarrhea. Treatment with cobalamin results in clinical improvement, but the untreated disorder may result in intellectual disability and neurological abnormalities.
Well established gene-disease association. 26 pathogenic TCN2 variants have been reported in over 40 individuals; multiple mouse models. Homozygous 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.
Created: 7 Feb 2025, 1:15 p.m. | Last Modified: 7 Feb 2025, 1:15 p.m.
Panel Version: 1.1566

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Transcobalamin II deficiency MIM#275350

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Transcobalamin II deficiency, 275350 (3)
OMIM
613441
Clinvar variants
Variants in TCN2
Penetrance
None
Panels with this gene

History Filter Activity

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Transcobalamin II deficiency, 275350 (3) for gene: TCN2

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TCN2 was added gene: TCN2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TCN2 were set to Transcobalamin II deficiency, 275350 (3)