Ataxia and cerebellar anomalies - narrow panel
Gene: CASKEnsemblGeneIds (GRCh38): ENSG00000147044
EnsemblGeneIds (GRCh37): ENSG00000147044
OMIM: 300172, Gene2Phenotype
CASK is in 15 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
-
- Expert Review Green
- 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
- Publications
- Panels with this gene
-
- Ataxia and cerebellar anomalies - narrow panel
- Intellectual disability
- DDG2P
- Non-syndromic familial congenital anorectal malformations
- Fetal anomalies
- Childhood onset dystonia, chorea or related movement disorder
- Cerebellar hypoplasia
- Clefting
- Severe microcephaly
- Adult onset neurodegenerative disorder
- Malformations of cortical development
- Early onset or syndromic epilepsy
- Albinism or congenital nystagmus
- Hereditary ataxia
- Hereditary ataxia with onset in adulthood
History Filter Activity
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: CASK were set to 35149592
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: CASK were set to
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.
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