Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Severe Paediatric Disorders v1.176 | CSF1R | Tracy Lester reviewed gene: CSF1R: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.17 | CSF1R | Louise Daugherty Mode of inheritance for gene CSF1R was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | CSF1R | Louise Daugherty reviewed gene: CSF1R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | CSF1R | Louise Daugherty Publications for gene CSF1R were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | CSF1R | Louise Daugherty Added phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids, 221820; Brain abnormalities, neurodegeneration, and dysosteosclerosis, 618476 for gene: CSF1R | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | CSF1R | Louise Daugherty Added phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids, 221820; Brain abnormalities, neurodegeneration, and dysosteosclerosis, 618476 for gene: CSF1R | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | CSF1R | Louise Daugherty Added phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids, 221820; Brain abnormalities, neurodegeneration, and dysosteosclerosis, 618476 for gene: CSF1R | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | CSF1R | Louise Daugherty Added phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids, 221820; Brain abnormalities, neurodegeneration, and dysosteosclerosis, 618476 for gene: CSF1R | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | CSF1R | Louise Daugherty Source Next Generation Children Project was added to CSF1R. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | CSF1R |
Louise Daugherty Source Expert Review Green was added to CSF1R. Rating Changed from Red List (low evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.4 | CSF1R |
Louise Daugherty gene: CSF1R was added gene: CSF1R was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: CSF1R was set to |