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Severe Paediatric Disorders v0.17 | HUWE1 | Louise Daugherty Mode of inheritance for gene HUWE1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | HUWE1 | Louise Daugherty reviewed gene: HUWE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | HUWE1 | Louise Daugherty Publications for gene HUWE1 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | HUWE1 | Louise Daugherty Added phenotypes Mental retardation, X-linked syndromic, Turner type, 309590 for gene: HUWE1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | HUWE1 | Louise Daugherty Added phenotypes Mental retardation, X-linked syndromic, Turner type, 309590 for gene: HUWE1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | HUWE1 | Louise Daugherty Added phenotypes Mental retardation, X-linked syndromic, Turner type, 309590 for gene: HUWE1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | HUWE1 | Louise Daugherty Added phenotypes Mental retardation, X-linked syndromic, Turner type, 309590 for gene: HUWE1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | HUWE1 | Louise Daugherty Source Next Generation Children Project was added to HUWE1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | HUWE1 |
Louise Daugherty Source Expert Review Green was added to HUWE1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | HUWE1 |
Louise Daugherty gene: HUWE1 was added gene: HUWE1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: HUWE1 was set to |