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Severe Paediatric Disorders v0.12 | SMPX | Louise Daugherty reviewed gene: SMPX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | SMPX | Louise Daugherty Publications for gene SMPX were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | SMPX | Louise Daugherty Added phenotypes Deafness, X-linked 4, 300066 for gene: SMPX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | SMPX | Louise Daugherty Added phenotypes Deafness, X-linked 4, 300066 for gene: SMPX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | SMPX | Louise Daugherty Added phenotypes Deafness, X-linked 4, 300066 for gene: SMPX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | SMPX | Louise Daugherty Added phenotypes Deafness, X-linked 4, 300066 for gene: SMPX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | SMPX |
Louise Daugherty Mode of inheritance for gene SMPX 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) Added phenotypes Deafness, X-linked 4, 300066 for gene: SMPX |
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Severe Paediatric Disorders v0.7 | SMPX | Louise Daugherty Source Next Generation Children Project was added to SMPX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | SMPX |
Louise Daugherty Source Expert Review Green was added to SMPX. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | SMPX |
Louise Daugherty gene: SMPX was added gene: SMPX was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SMPX was set to |