Date Panel Item Activity
5 actions
Genetic epilepsy syndromes v1.191 PCDH19 Rebecca Foulger Source Wessex and West Midlands GLH was added to PCDH19.
Genetic epilepsy syndromes v1.190 PCDH19 Rebecca Foulger Source NHS GMS was added to PCDH19.
Genetic epilepsy syndromes v1.189 PCDH19 Rebecca Foulger reviewed gene: PCDH19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genetic epilepsy syndromes v1.188 PCDH19 Tracy Lester reviewed gene: PCDH19: Rating: GREEN; Mode of pathogenicity: ; Publications: 19752159; Phenotypes: Epileptic encephalopathy, early infantile, 300088; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic epilepsy syndromes PCDH19 Sarah Leigh Added gene to panel