Activity

Filter

Cancel
Date Panel Item Activity
10 actions
Severe Paediatric Disorders v0.12 PTHLH Louise Daugherty reviewed gene: PTHLH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 PTHLH Louise Daugherty Publications for gene PTHLH were updated from to 30847515
Severe Paediatric Disorders v0.11 PTHLH Louise Daugherty Mode of inheritance for gene PTHLH was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.10 PTHLH Louise Daugherty Added phenotypes Brachydactyly, type E2, 613382 for gene: PTHLH
Severe Paediatric Disorders v0.9 PTHLH Louise Daugherty Added phenotypes Brachydactyly, type E2, 613382 for gene: PTHLH
Severe Paediatric Disorders v0.9 PTHLH Louise Daugherty Added phenotypes Brachydactyly, type E2, 613382 for gene: PTHLH
Severe Paediatric Disorders v0.8 PTHLH Louise Daugherty Added phenotypes Brachydactyly, type E2, 613382 for gene: PTHLH
Severe Paediatric Disorders v0.7 PTHLH Louise Daugherty Source Next Generation Children Project was added to PTHLH.
Severe Paediatric Disorders v0.5 PTHLH Louise Daugherty Source Expert Review Green was added to PTHLH.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 PTHLH Louise Daugherty gene: PTHLH was added
gene: PTHLH was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: PTHLH was set to