Genes in panel
STRs in panel
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Inborn errors of metabolism

Gene: NT5C

Red List (low evidence)

NT5C (5', 3'-nucleotidase, cytosolic)
EnsemblGeneIds (GRCh38): ENSG00000125458
EnsemblGeneIds (GRCh37): ENSG00000125458
OMIM: 191720, Gene2Phenotype
NT5C is in 2 panels

1 review

Louise Daugherty (NIHR BioResource - Rare Diseases Study (NIHRBR-RD), University of Cambridge & NHS Blood and Transplant)

Red List (low evidence)

No phenotype associated with this gene
Created: 23 Feb 2017, 5:15 p.m.

Mode of inheritance
Unknown

Phenotypes
Pyrimidine - 5 - nucleotidase deficiency (Disorders of pyrimidine metabolism)

Publications

Details

Mode of Inheritance
Unknown
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Pyrimidine - 5 - nucleotidase deficiency (Disorders of pyrimidine metabolism)
OMIM
191720
Clinvar variants
Variants in NT5C
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 NT5C. Source London North GLH was added to NT5C.

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: NT5C was added gene: NT5C was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NT5C was set to Unknown Publications for gene: NT5C were set to 27604308 Phenotypes for gene: NT5C were set to Pyrimidine - 5 - nucleotidase deficiency (Disorders of pyrimidine metabolism)