Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Severe Paediatric Disorders v0.17 | CLCN7 | Louise Daugherty Mode of inheritance for gene CLCN7 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | CLCN7 | Louise Daugherty reviewed gene: CLCN7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | CLCN7 | Louise Daugherty Publications for gene CLCN7 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | CLCN7 | Louise Daugherty Added phenotypes Osteopetrosis, autosomal recessive 4, 611490; Hypopigmentation, organomegaly, and delayed myelination and development, 618541; Osteopetrosis, autosomal dominant 2, 166600 for gene: CLCN7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | CLCN7 | Louise Daugherty Added phenotypes Osteopetrosis, autosomal recessive 4, 611490; Hypopigmentation, organomegaly, and delayed myelination and development, 618541; Osteopetrosis, autosomal dominant 2, 166600 for gene: CLCN7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | CLCN7 | Louise Daugherty Added phenotypes Osteopetrosis, autosomal recessive 4, 611490; Hypopigmentation, organomegaly, and delayed myelination and development, 618541; Osteopetrosis, autosomal dominant 2, 166600 for gene: CLCN7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | CLCN7 | Louise Daugherty Added phenotypes Osteopetrosis, autosomal recessive 4, 611490; Hypopigmentation, organomegaly, and delayed myelination and development, 618541; Osteopetrosis, autosomal dominant 2, 166600 for gene: CLCN7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | CLCN7 | Louise Daugherty Source Next Generation Children Project was added to CLCN7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | CLCN7 |
Louise Daugherty Source Expert Review Green was added to CLCN7. Rating Changed from Red List (low evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.4 | CLCN7 |
Louise Daugherty gene: CLCN7 was added gene: CLCN7 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: CLCN7 was set to |