Activity
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| Likely inborn error of metabolism v9.18 | PTPMT1 | Arina Puzriakova Tag Q2_26_NHS_review was removed from gene: PTPMT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v9.18 | PTPMT1 |
Arina Puzriakova gene: PTPMT1 was added gene: PTPMT1 was added to Likely inborn error of metabolism. Sources: Expert Review Amber,Literature Q2_26_promote_green, Q2_26_expert_review, Q2_26_NHS_review tags were added to gene: PTPMT1. Mode of inheritance for gene: PTPMT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTPMT1 were set to 39279645 Phenotypes for gene: PTPMT1 were set to Neurodevelopmental disorder with ataxia and brain abnormalities, OMIM:621199 |
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| Likely inborn error of metabolism v1.47 | TPMT |
Ivone Leong Source NHS GMS was added to TPMT. Source London North GLH was added to TPMT. |
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| Likely inborn error of metabolism v0.4 | TPMT |
Ellen McDonagh gene: TPMT was added gene: TPMT was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: TPMT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TPMT were set to 27604308 Phenotypes for gene: TPMT were set to Thiopurine S-methyltransferase deficiency (Disorders of purine metabolism); {Thiopurines, poor metabolism of, 1} 610460 |
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