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)
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.
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)
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