Vitamin metabolism disorders

Gene: TCN1

Amber List (moderate evidence)

TCN1 (transcobalamin 1)
EnsemblGeneIds (GRCh38): ENSG00000134827
EnsemblGeneIds (GRCh37): ENSG00000134827
OMIM: 189905, Gene2Phenotype
TCN1 is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Unclear if TC1 deficiency is associated with a clinical phenotype and only found 2 families with genetic findings. 1 confirmed chet (2 truncating variants) with severe TC 1 deficiency (depression and anxiety only reported symptoms, had sickle cell trait) & another family with 2 siblings that are presumed homozygous for a truncating variant (no plasma or serum TC 1 levels but no DNA available for genetic testing) which was found heterozygous in multiple first-degree relatives. Unclear if there is a clinical phenotype. Heterozygous individuals displayed mildly low or low-normal TC 1 serum levels. Also, 4 homozygotes were identified in a study of a loss-of-function variant associated with lower vitamin B12 concentration in African Americans but there was limited ability to assess the clinical impact of the recessive disease
Sources: Literature
Created: 2 Apr 2024, 10:19 p.m. | Last Modified: 2 Apr 2024, 10:27 p.m.
Panel Version: 0.34

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
transcobalamin I deficiency MONDO:0008659

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • transcobalamin I deficiency MONDO:0008659
OMIM
189905
Clinvar variants
Variants in TCN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tcn1 has been classified as Amber List (Moderate Evidence).

2 Apr 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tcn1 has been classified as Amber List (Moderate 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: TCN1 was added gene: TCN1 was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature Mode of inheritance for gene: TCN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TCN1 were set to 19686235 Phenotypes for gene: TCN1 were set to transcobalamin I deficiency MONDO:0008659 Review for gene: TCN1 was set to AMBER