Activity
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| Likely inborn error of metabolism v2.200 | HPRT1 | Arina Puzriakova Phenotypes for gene: HPRT1 were changed from HPRT-related gout to Hyperuricemia, HRPT-related, OMIM:300323; Lesch-Nyhan syndrome, OMIM:300322 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.47 | HPRT1 |
Ivone Leong Source NHS GMS was added to HPRT1. Source London North GLH was added to HPRT1. |
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| Likely inborn error of metabolism v0.4 | HPRT1 |
Ellen McDonagh gene: HPRT1 was added gene: HPRT1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: HPRT1 were set to 27604308 Phenotypes for gene: HPRT1 were set to HPRT-related gout |
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