Activity

Filter

Cancel
Date Panel Item Activity
10 actions
Severe Paediatric Disorders v0.12 SNORD118 Louise Daugherty reviewed gene: SNORD118: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 SNORD118 Louise Daugherty Publications for gene SNORD118 were updated from to 30847515
Severe Paediatric Disorders v0.10 SNORD118 Louise Daugherty Added phenotypes Leukoencephalopathy, brain calcifications, and cysts, 614561 for gene: SNORD118
Severe Paediatric Disorders v0.9 SNORD118 Louise Daugherty Added phenotypes Leukoencephalopathy, brain calcifications, and cysts, 614561 for gene: SNORD118
Severe Paediatric Disorders v0.9 SNORD118 Louise Daugherty Added phenotypes Leukoencephalopathy, brain calcifications, and cysts, 614561 for gene: SNORD118
Severe Paediatric Disorders v0.8 SNORD118 Louise Daugherty Added phenotypes Leukoencephalopathy, brain calcifications, and cysts, 614561 for gene: SNORD118
Severe Paediatric Disorders v0.8 SNORD118 Louise Daugherty Mode of inheritance for gene SNORD118 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leukoencephalopathy, brain calcifications, and cysts, 614561 for gene: SNORD118
Severe Paediatric Disorders v0.7 SNORD118 Louise Daugherty Source Next Generation Children Project was added to SNORD118.
Severe Paediatric Disorders v0.5 SNORD118 Louise Daugherty Source Expert Review Green was added to SNORD118.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 SNORD118 Louise Daugherty gene: SNORD118 was added
gene: SNORD118 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: SNORD118 was set to