Hereditary ataxia with onset in adulthood
Gene: CASKEnsemblGeneIds (GRCh38): ENSG00000147044
EnsemblGeneIds (GRCh37): ENSG00000147044
OMIM: 300172, Gene2Phenotype
CASK is in 15 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Tracy Lester (Genetics laboratory, Oxford UK)
MICPCH phenotype largely seen in females and caused by haploinsufficiency, missense variants seen in males with FG syndrome 4 phenotype of which can include ataxia and cerebellar abnormalities. Multiple positives in our own cohortCreated: 15 Apr 2019, 10:06 a.m.
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
Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749, FG syndrome 4, 300422
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
-
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Hereditary ataxia v1.148
- 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
-
- Non-syndromic familial congenital anorectal malformations
- Childhood onset dystonia, chorea or related movement disorder
- Cerebellar hypoplasia
- Clefting
- Severe microcephaly
- Adult onset neurodegenerative disorder
- Intellectual disability
- Fetal anomalies
- DDG2P
- Malformations of cortical development
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary ataxia with onset in adulthood
- Albinism or congenital nystagmus
- Early onset or syndromic epilepsy
- Hereditary ataxia
History Filter Activity
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes FG syndrome 4, 300422; Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749 for gene: CASK
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to CASK.
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to CASK.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked panel against panel constituents. Ready to promote to version 1.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: CASK were changed from to FG syndrome 4, 300422; Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: CASK was added gene: CASK was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,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)