Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Severe Paediatric Disorders v0.12 | WWOX | Louise Daugherty reviewed gene: WWOX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | WWOX | Louise Daugherty Publications for gene WWOX were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | WWOX | Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 28, 616211; Spinocerebellar ataxia, autosomal recessive 12, 614322 for gene: WWOX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | WWOX | Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 28, 616211; Spinocerebellar ataxia, autosomal recessive 12, 614322 for gene: WWOX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | WWOX | Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 28, 616211; Spinocerebellar ataxia, autosomal recessive 12, 614322 for gene: WWOX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | WWOX | Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 12, 614322; Epileptic encephalopathy, early infantile, 28, 616211 for gene: WWOX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | WWOX |
Louise Daugherty Mode of inheritance for gene WWOX was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Epileptic encephalopathy, early infantile, 28, 616211; Spinocerebellar ataxia, autosomal recessive 12, 614322 for gene: WWOX |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | WWOX | Louise Daugherty Source Next Generation Children Project was added to WWOX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | WWOX |
Louise Daugherty Source Expert Review Green was added to WWOX. Rating Changed from Red List (low evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.4 | WWOX |
Louise Daugherty gene: WWOX was added gene: WWOX was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: WWOX was set to |