Cerebellar hypoplasia
Gene: CASKComment on mode of inheritance: X-linked dominant disorderCreated: 3 Nov 2016, 10:04 a.m.
Phenotypes and mode of inheritance sourced from OMIM (X-linked dominant for Mental retardation and microcephaly with pontine and cerebellar hypoplasia).Created: 8 Jan 2016, 10:05 a.m.
Publications for gene: CASK were set to
22/02/2017: Panel revised after internal clinical review and further curation.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for CASK was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
This gene has been classified as Green List (High Evidence).
CASK was added to Cerebellar hypoplasiapanel. Source: Radboud University Medical Center, Nijmegen
CASK was added to Cerebellar hypoplasiapanel. Source: UKGTN
Phenotypes for gene CASK were set to Mental retardation and microcephaly with pontine and cerebellar hypoplasia; FG syndrome 4; Mental retardation, with or without nystagmus
CASK was added to Cerebellar hypoplasiapanel. Sources: Other
CASK was added to Cerebellar hypoplasiapanel. Sources: Eligibility statement prior genetic testing
CASK was created by ellenmcdonagh