Activity
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8 actions
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| Likely inborn error of metabolism v8.82 | HMBS | Arina Puzriakova Tag Q2_25_expert_review was removed from gene: HMBS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v7.27 | HMBS |
Sarah Leigh Tag Q2_25_ MOI tag was added to gene: HMBS. Tag Q2_25_expert_review tag was added to gene: HMBS. |
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| Likely inborn error of metabolism v7.27 | HMBS | Sarah Leigh reviewed gene: HMBS: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v7.27 | HMBS | Sarah Leigh Phenotypes for gene: HMBS were changed from Porphyria, acute intermittent, nonerythroid variant, 176000; Acute intermittent porphyria (Acute neuropathic porphyrias); Porphyria, acute intermittent, 176000 to Porphyria, acute intermittent OMIM:176000; acute intermittent porphyria MONDO:0008294; Leukoencephalopathy, porphyria-related OMIM:620711; leukoencephalopathy, porphyria-related, MONDO:0958226; Encephalopathy, porphyria-related, OMIM:620704; encephalopathy, porphyria-related, MONDO:0958224 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v7.26 | HMBS | Sarah Leigh Publications for gene: HMBS were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v7.21 | HMBS | Sharon Whatley reviewed gene: HMBS: Rating: GREEN; Mode of pathogenicity: None; Publications: 38940544, 27539938, 14262853, 1577472, 15534187, 14970743, 27558376, 31153822, 34089223; Phenotypes: 176000, 620711, 620704; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.47 | HMBS |
Ivone Leong Source NHS GMS was added to HMBS. Source London North GLH was added to HMBS. |
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| Likely inborn error of metabolism v0.4 | HMBS |
Ellen McDonagh gene: HMBS was added gene: HMBS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HMBS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HMBS were set to 27604308 Phenotypes for gene: HMBS were set to Porphyria, acute intermittent, nonerythroid variant, 176000; Acute intermittent porphyria (Acute neuropathic porphyrias); Porphyria, acute intermittent, 176000 |
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