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Severe Paediatric Disorders v0.17 | HMBS | Louise Daugherty Mode of inheritance for gene HMBS was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | HMBS | Louise Daugherty reviewed gene: HMBS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | HMBS | Louise Daugherty Publications for gene HMBS were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | HMBS | Louise Daugherty Added phenotypes Porphyria, acute intermittent, 176000; Porphyria, acute intermittent, nonerythroid variant, 176000 for gene: HMBS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | HMBS | Louise Daugherty Added phenotypes Porphyria, acute intermittent, 176000; Porphyria, acute intermittent, nonerythroid variant, 176000 for gene: HMBS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | HMBS | Louise Daugherty Added phenotypes Porphyria, acute intermittent, 176000; Porphyria, acute intermittent, nonerythroid variant, 176000 for gene: HMBS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | HMBS | Louise Daugherty Added phenotypes Porphyria, acute intermittent, nonerythroid variant, 176000; Porphyria, acute intermittent, 176000 for gene: HMBS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | HMBS | Louise Daugherty Source Next Generation Children Project was added to HMBS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | HMBS |
Louise Daugherty Source Expert Review Green was added to HMBS. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | HMBS |
Louise Daugherty gene: HMBS was added gene: HMBS was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: HMBS was set to |