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  2. Likely inborn error of metabolism
  3. TCN1
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Likely inborn error of metabolism

Gene: TCN1

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

2 reviews

Helen Brittain (Genomics England Curator)

Red List (low evidence)

No evidence of a pathological clinical phenotype. Transcobalamin deficiency considered a benign disorder
Created: 23 Feb 2017, 5:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
No OMIM number

Publications

Created: 23 Feb 2017, 5:16 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.304

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Not associated with a phenotype in OMIM, nor G2P / DD. Variants of TCN1 associated with different vitamin B12-binding protein polymorphisms
Created: 19 Jan 2017, 9:41 a.m.
Created: 19 Jan 2017, 9:41 a.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.220

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Haptocorrin deficiency (Disorders of cobalamin absorption, transport and metabolism)
  • No OMIM number
OMIM
189905
Clinvar variants
Variants in TCN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 1

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to TCN1. Source London North GLH was added to TCN1.

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: TCN1 was added gene: TCN1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: TCN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TCN1 were set to 27604308 Phenotypes for gene: TCN1 were set to Haptocorrin deficiency (Disorders of cobalamin absorption, transport and metabolism); No OMIM number