Activity

Filter

Cancel
Date Panel Item Activity
10 actions
Severe Paediatric Disorders v0.12 NIPA1 Louise Daugherty reviewed gene: NIPA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 NIPA1 Louise Daugherty Publications for gene NIPA1 were updated from to 30847515
Severe Paediatric Disorders v0.11 NIPA1 Louise Daugherty Mode of inheritance for gene NIPA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.10 NIPA1 Louise Daugherty Added phenotypes Spastic paraplegia 6, autosomal dominant, 600363 for gene: NIPA1
Severe Paediatric Disorders v0.9 NIPA1 Louise Daugherty Added phenotypes Spastic paraplegia 6, autosomal dominant, 600363 for gene: NIPA1
Severe Paediatric Disorders v0.9 NIPA1 Louise Daugherty Added phenotypes Spastic paraplegia 6, autosomal dominant, 600363 for gene: NIPA1
Severe Paediatric Disorders v0.8 NIPA1 Louise Daugherty Added phenotypes Spastic paraplegia 6, autosomal dominant, 600363 for gene: NIPA1
Severe Paediatric Disorders v0.7 NIPA1 Louise Daugherty Source Next Generation Children Project was added to NIPA1.
Severe Paediatric Disorders v0.5 NIPA1 Louise Daugherty Source Expert Review Green was added to NIPA1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 NIPA1 Louise Daugherty gene: NIPA1 was added
gene: NIPA1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: NIPA1 was set to