Ataxia - paediatric
Gene: CASKEnsemblGeneIds (GRCh38): ENSG00000147044
EnsemblGeneIds (GRCh37): ENSG00000147044
OMIM: 300172, Gene2Phenotype
CASK is in 18 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
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 variantsCreated: 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
Variants in this GENE are reported as part of current diagnostic practice
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
-
- Expert Review Green
- Royal Melbourne Hospital
- Expert Review Green
- Phenotypes
-
- FG syndrome 4, 300422
- Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749
- OMIM
- 300172
- Clinvar variants
- Variants in CASK
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Clefting disorders
- Prepair 1000+
- Microcephaly
- BabyScreen+ newborn screening
- Congenital nystagmus
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Regression
- Fetal anomalies
- Additional findings_Paediatric
- Arthrogryposis
- Mendeliome
- Prepair 500+
- Callosome
- Ataxia - paediatric
- Cerebral Palsy
- Cerebellar and Pontocerebellar Hypoplasia
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: CASK was added gene: CASK was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital 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 and microcephaly with pontine and cerebellar hypoplasia, 300749