Activity

Filter

Cancel
Date Panel Item Activity
10 actions
Severe Paediatric Disorders v0.12 PNPLA6 Louise Daugherty reviewed gene: PNPLA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 PNPLA6 Louise Daugherty Publications for gene PNPLA6 were updated from to 30847515
Severe Paediatric Disorders v0.11 PNPLA6 Louise Daugherty Mode of inheritance for gene PNPLA6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.10 PNPLA6 Louise Daugherty Added phenotypes ?Laurence-Moon syndrome, 245800; Spastic paraplegia 39, autosomal recessive, 612020; Boucher-Neuhauser syndrome, 215470; Oliver-McFarlane syndrome, 275400 for gene: PNPLA6
Severe Paediatric Disorders v0.9 PNPLA6 Louise Daugherty Added phenotypes ?Laurence-Moon syndrome, 245800; Spastic paraplegia 39, autosomal recessive, 612020; Boucher-Neuhauser syndrome, 215470; Oliver-McFarlane syndrome, 275400 for gene: PNPLA6
Severe Paediatric Disorders v0.9 PNPLA6 Louise Daugherty Added phenotypes ?Laurence-Moon syndrome, 245800; Spastic paraplegia 39, autosomal recessive, 612020; Boucher-Neuhauser syndrome, 215470; Oliver-McFarlane syndrome, 275400 for gene: PNPLA6
Severe Paediatric Disorders v0.8 PNPLA6 Louise Daugherty Added phenotypes ?Laurence-Moon syndrome, 245800; Spastic paraplegia 39, autosomal recessive, 612020; Oliver-McFarlane syndrome, 275400; Boucher-Neuhauser syndrome, 215470 for gene: PNPLA6
Severe Paediatric Disorders v0.7 PNPLA6 Louise Daugherty Source Next Generation Children Project was added to PNPLA6.
Severe Paediatric Disorders v0.5 PNPLA6 Louise Daugherty Source Expert Review Green was added to PNPLA6.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 PNPLA6 Louise Daugherty gene: PNPLA6 was added
gene: PNPLA6 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: PNPLA6 was set to