transcobalamin I deficiency
MONDO:0008659Mondo
Findings
No curated finding names transcobalamin I deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TCN1HGNC:11652
- Moderate · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
3 names
Resolves to: transcobalamin I deficiency
- Also called
- Haptocorrin deficiencyTCI deficiencytranscobalamin-1 deficiency