Activity

Filter

Cancel
Date Panel Item Activity
10 actions
Severe Paediatric Disorders v0.17 HEPACAM Louise Daugherty Mode of inheritance for gene HEPACAM was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.12 HEPACAM Louise Daugherty reviewed gene: HEPACAM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 HEPACAM Louise Daugherty Publications for gene HEPACAM were updated from to 30847515
Severe Paediatric Disorders v0.10 HEPACAM Louise Daugherty Added phenotypes Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926; Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 for gene: HEPACAM
Severe Paediatric Disorders v0.9 HEPACAM Louise Daugherty Added phenotypes Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926; Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 for gene: HEPACAM
Severe Paediatric Disorders v0.9 HEPACAM Louise Daugherty Added phenotypes Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926; Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 for gene: HEPACAM
Severe Paediatric Disorders v0.8 HEPACAM Louise Daugherty Added phenotypes Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926; Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 for gene: HEPACAM
Severe Paediatric Disorders v0.7 HEPACAM Louise Daugherty Source Next Generation Children Project was added to HEPACAM.
Severe Paediatric Disorders v0.5 HEPACAM Louise Daugherty Source Expert Review Green was added to HEPACAM.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 HEPACAM Louise Daugherty gene: HEPACAM was added
gene: HEPACAM was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: HEPACAM was set to