Albinism or congenital nystagmus
Gene: CASKEnsemblGeneIds (GRCh38): ENSG00000147044
EnsemblGeneIds (GRCh37): ENSG00000147044
OMIM: 300172, Gene2Phenotype
CASK is in 15 panels
1 review
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Jonathan Callaway (Wessex Regional Genetics Laboratory) February 2019. Suggested intial gene rating: Green; Comments provided: Comments from HGMDpro: STRONG EVIDENCE: 119 variants listed, including numerous LOF variants. The majority have mental retardation, intellectual disability or epilepsy as the reported phenotype. 6 variants have nystagmus within the reported phenotype and in 5 of these cases the phenotype also included mental retardation. Our local clinical expert in ophthalmology suggests including this gene since it can appear to present as isolated nystagmus.Created: 13 Feb 2019, 11:41 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
FG syndrome 4 300422; Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749 XLD; Mental retardation, with or without nystagmus 300422
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Mental retardation, with or without nystagmus 300422
- Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749 XLD
- FG syndrome 4 300422
- OMIM
- 300172
- Clinvar variants
- Variants in CASK
- Penetrance
- None
- Panels with this gene
-
- Non-syndromic familial congenital anorectal malformations
- Early onset or syndromic epilepsy
- DDG2P
- Cerebellar hypoplasia
- Intellectual disability
- Clefting
- Adult onset neurodegenerative disorder
- Malformations of cortical development
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Albinism or congenital nystagmus
- Hereditary ataxia
- Fetal anomalies
- Severe microcephaly
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes, Status Update
Ivone Leong (Genomics England Curator)Added phenotypes Mental retardation, with or without nystagmus 300422; Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749 XLD; FG syndrome 4 300422 for gene: CASK Rating Changed from Green List (high evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: cask has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: CASK was added gene: CASK was added to Albinism or congenital nystagmus. Sources: Expert list Mode of inheritance for gene: CASK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CASK were set to Mental retardation, with or without nystagmus 300422; Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749 XLD; FG syndrome 4 300422