- Genes and Genomic Entities
- NT5C
NT5C
5', 3'-nucleotidase, cytosolic
OMIM: 191720, Gene2Phenotype
2 panels
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
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review
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Unknown
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Sources
- Expert Review Red
- Literature
Phenotypes
- Pyrimidine - 5 - nucleotidase deficiency (Disorders of pyrimidine metabolism)
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Version 4.137
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
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review
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Unknown
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Sources
- London North GLH
- NHS GMS
- Expert Review Red
Phenotypes
- Pyrimidine - 5 - nucleotidase deficiency (Disorders of pyrimidine metabolism)
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