Activity

Filter

Cancel
Date Panel Item Activity
11 actions
Severe Paediatric Disorders v1.149 KPTN Sarah Leigh Phenotypes for gene: KPTN were changed from Mental retardation, autosomal recessive 41, 615637 to Intellectual developmental disorder, autosomal recessive 41, OMIM:615637; macrocephaly-developmental delay syndrome, MONDO:0014289
Severe Paediatric Disorders v0.17 KPTN Louise Daugherty Mode of inheritance for gene KPTN was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.12 KPTN Louise Daugherty reviewed gene: KPTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 KPTN Louise Daugherty Publications for gene KPTN were updated from to 30847515
Severe Paediatric Disorders v0.10 KPTN Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 41, 615637 for gene: KPTN
Severe Paediatric Disorders v0.9 KPTN Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 41, 615637 for gene: KPTN
Severe Paediatric Disorders v0.9 KPTN Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 41, 615637 for gene: KPTN
Severe Paediatric Disorders v0.8 KPTN Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 41, 615637 for gene: KPTN
Severe Paediatric Disorders v0.7 KPTN Louise Daugherty Source Next Generation Children Project was added to KPTN.
Severe Paediatric Disorders v0.5 KPTN Louise Daugherty Source Expert Review Green was added to KPTN.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 KPTN Louise Daugherty gene: KPTN was added
gene: KPTN was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: KPTN was set to