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| Miscellaneous Metabolic Disorders v0.277 | PRPS1 | Zornitza Stark Marked gene: PRPS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.277 | PRPS1 | Zornitza Stark Gene: prps1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.277 | PRPS1 | Zornitza Stark Classified gene: PRPS1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.277 | PRPS1 | Zornitza Stark Gene: prps1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.276 | PRPS1 |
Zornitza Stark gene: PRPS1 was added gene: PRPS1 was added to Miscellaneous Metabolic Disorders. Sources: Expert Review Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PRPS1 were set to Arts syndrome 301835; Charcot-Marie-Tooth disease, X-linked recessive, 5 311070; Deafness, X-linked 1 304500; Gout, PRPS-related 300661; Phosphoribosylpyrophosphate synthetase superactivity 300661 Review for gene: PRPS1 was set to GREEN Added comment: Phosphoribosylpyrophosphate synthetase catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for the de novo and salvage pathways of purine and pyrimidine biosynthesis. Both increased and decreased enzyme activity has been linked to disease. Sources: Expert Review |
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