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Early onset or syndromic epilepsy v1.191 | PCDH19 | Rebecca Foulger Source Wessex and West Midlands GLH was added to PCDH19. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.190 | PCDH19 | Rebecca Foulger Source NHS GMS was added to PCDH19. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.189 | PCDH19 | Rebecca Foulger reviewed gene: PCDH19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy 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) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy | PCDH19 | Sarah Leigh Added gene to panel |