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Severe Paediatric Disorders v0.17 | CLCN5 | Louise Daugherty Mode of inheritance for gene CLCN5 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | CLCN5 | Louise Daugherty reviewed gene: CLCN5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | CLCN5 | Louise Daugherty Publications for gene CLCN5 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | CLCN5 | Louise Daugherty Added phenotypes Nephrolithiasis, type I, 310468; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990; Hypophosphatemic rickets, 300554; Dent disease, 300009 for gene: CLCN5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | CLCN5 | Louise Daugherty Added phenotypes Nephrolithiasis, type I, 310468; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990; Hypophosphatemic rickets, 300554; Dent disease, 300009 for gene: CLCN5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | CLCN5 | Louise Daugherty Added phenotypes Nephrolithiasis, type I, 310468; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990; Hypophosphatemic rickets, 300554; Dent disease, 300009 for gene: CLCN5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | CLCN5 | Louise Daugherty Added phenotypes Hypophosphatemic rickets, 300554; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990; Dent disease, 300009; Nephrolithiasis, type I, 310468 for gene: CLCN5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | CLCN5 | Louise Daugherty Source Next Generation Children Project was added to CLCN5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | CLCN5 |
Louise Daugherty Source Expert Review Green was added to CLCN5. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | CLCN5 |
Louise Daugherty gene: CLCN5 was added gene: CLCN5 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: CLCN5 was set to |