CASK

calcium/calmodulin dependent serine protein kinase
OMIM: 300172
PanelMode of inheritanceDetails
8 panels
R-numbers: R39
Signed-off version 1.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mental retardation, with or without nystagmus 300422, Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749 XLD, FG syndrome 4 300422
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
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, 300422, Mental retardation, with or without nystagmus, Mental retardation and microcephaly with pontine and cerebellar hypoplasia, Pontocerebellar Hypoplasia, FG syndrome 4, Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749, Mental retardation, with or without nystagmus, 300422
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
MENTAL RETARDATION X-LINKED CASK-RELATED 300749, FG SYNDROME TYPE 4 300422, MRX WITH/WITHOUT NYSTAGMUS 300749
R-numbers: R21
Signed-off version 1.92
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
MRX WITH/WITHOUT NYSTAGMUS, MENTAL RETARDATION X-LINKED CASK-RELATED, FG SYNDROME TYPE 4
R-numbers: R59
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749, Mental retardation, with or without nystagmus 300422
R-numbers: R54
Signed-off version 2.13
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, 300422, Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749FG syndrome 4, 300422Mental retardation, with or without nystagmus, 300422, MENTAL RETARDATION X-LINKED CASK-RELATED (MRXCASK)
R-numbers: R88
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
CASK-related XLID, severe intellectual disability, brainstem and cerebellar hypoplasia, and microcephaly, Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749, MICPCH, Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia, 300749