Vitamin metabolism disorders

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Sources: Expert list
Created: 31 Jan 2021, 7:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Transcobalamin II deficiency, 275350

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert list
Phenotypes
  • Transcobalamin II deficiency, 275350
OMIM
613441
Clinvar variants
Variants in TCN2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

2 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

2 Apr 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TCN2 was added gene: TCN2 was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature Mode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TCN2 were set to 19373259 Phenotypes for gene: TCN2 were set to Transcobalamin II deficiency, 275350