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Early onset or syndromic epilepsy v1.191 CASK Rebecca Foulger Source Wessex and West Midlands GLH was added to CASK.
Early onset or syndromic epilepsy v1.190 CASK Rebecca Foulger Source NHS GMS was added to CASK.
Early onset or syndromic epilepsy v1.189 CASK Rebecca Foulger reviewed gene: CASK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 CASK Tracy Lester reviewed gene: CASK: Rating: GREEN; Mode of pathogenicity: ; Publications: 21954287; Phenotypes: FG syndrome, 300422 , Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749, Mental retardation with or without nystagmus, 300422; 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 v0.763 CASK Sarah Leigh Marked gene: CASK as ready
Early onset or syndromic epilepsy v0.763 CASK Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 5 variants reported in unrelated cases with seizures included in their phenotype.
Early onset or syndromic epilepsy v0.763 CASK Sarah Leigh Gene: cask has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.763 CASK Sarah Leigh Classified gene: CASK as Green List (high evidence)
Early onset or syndromic epilepsy v0.763 CASK Sarah Leigh Gene: cask has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.762 CASK Sarah Leigh Publications for gene: CASK were set to
Early onset or syndromic epilepsy v0.761 CASK Sarah Leigh Mode of inheritance for gene: CASK was changed from to 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 v0.760 CASK Sarah Leigh Phenotypes for gene: CASK were changed from to Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749; Mental retardation, with or without nystagmus 300422
Early onset or syndromic epilepsy CASK Zornitza Stark reviewed gene: CASK
Early onset or syndromic epilepsy CASK Sarah Leigh Added gene to panel