Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: CASK

Green List (high evidence)

CASK (calcium/calmodulin dependent serine protein kinase)
EnsemblGeneIds (GRCh38): ENSG00000147044
EnsemblGeneIds (GRCh37): ENSG00000147044
OMIM: 300172, Gene2Phenotype
CASK is in 16 panels

0 reviews

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
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
OMIM
300172
Clinvar variants
Variants in CASK
Penetrance
None
Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

19 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: CASK was added gene: CASK was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: CASK was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: CASK were set to 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