Congenital nystagmus

Gene: CASK

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

Green List (high evidence)

May not be distinct from FG syndrome, which has the same MIM#. Approximately half of affected individuals have nystagmus.

Created: 24 Oct 2021, 6:20 a.m. | Last Modified: 24 Oct 2021, 6:20 a.m.

Panel Version: 0.17

Phenotypes
Mental retardation, with or without nystagmus, MIM# 300422

Publications

• 19377476