Activity

Filter

Cancel
Date Panel Item Activity
10 actions
Severe Paediatric Disorders v0.12 PHKB Louise Daugherty reviewed gene: PHKB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 PHKB Louise Daugherty Publications for gene PHKB were updated from to 30847515
Severe Paediatric Disorders v0.11 PHKB Louise Daugherty Mode of inheritance for gene PHKB was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.10 PHKB Louise Daugherty Added phenotypes Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, 261750 for gene: PHKB
Severe Paediatric Disorders v0.9 PHKB Louise Daugherty Added phenotypes Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, 261750 for gene: PHKB
Severe Paediatric Disorders v0.9 PHKB Louise Daugherty Added phenotypes Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, 261750 for gene: PHKB
Severe Paediatric Disorders v0.8 PHKB Louise Daugherty Added phenotypes Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, 261750 for gene: PHKB
Severe Paediatric Disorders v0.7 PHKB Louise Daugherty Source Next Generation Children Project was added to PHKB.
Severe Paediatric Disorders v0.5 PHKB Louise Daugherty Source Expert Review Green was added to PHKB.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 PHKB Louise Daugherty gene: PHKB was added
gene: PHKB was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: PHKB was set to