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| Miscellaneous Metabolic Disorders v0.283 | PNP | Zornitza Stark Marked gene: PNP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.283 | PNP | Zornitza Stark Gene: pnp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.283 | PNP | Zornitza Stark Classified gene: PNP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.283 | PNP | Zornitza Stark Gene: pnp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.282 | PNP |
Zornitza Stark gene: PNP was added gene: PNP was added to Miscellaneous Metabolic Disorders. Sources: Expert list Mode of inheritance for gene: PNP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNP were set to 3029074; 1384322; 11453975; 32695102; 32514656 Phenotypes for gene: PNP were set to Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM# 613179 Review for gene: PNP was set to GREEN Added comment: Purine nucleoside phosphorylase deficiency is a rare autosomal recessive immunodeficiency disorder characterized mainly by decreased T-cell function. Some patients also have neurologic impairment. Severity and age of onset dependent on amount of residual activity. Multiple families reported. Sources: Expert list |
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