Genetic Epilepsy

Gene: CASK

Green List (high evidence)

Seizures are part of the phenotype.

Created: 15 Oct 2022, 1:34 a.m. | Last Modified: 15 Oct 2022, 1:34 a.m.

Panel Version: 0.1772

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia, MIM# 300749

Green List (high evidence)

Established association.

From Genereviews:
Microcephaly with pontine and cerebellar hypoplasia (MICPCH), generally associated with pathogenic loss-of-function variants in CASK
X-linked intellectual disability (XLID) with or without nystagmus, generally associated with hypomorphic CASK pathogenic variants

Created: 28 Mar 2022, 4:37 a.m. | Last Modified: 28 Mar 2022, 4:37 a.m.

Panel Version: 0.12134

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
FG syndrome 4 MIM#300422; Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749; Mental retardation, with or without nystagmus MIM#300422

Publications

• 24278995

Variants in this GENE are reported as part of current diagnostic practice