Malformations of cortical development
Gene: CASKEnsemblGeneIds (GRCh38): ENSG00000147044
EnsemblGeneIds (GRCh37): ENSG00000147044
OMIM: 300172, Gene2Phenotype
CASK is in 15 panels
2 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 3:13 p.m. | Last Modified: 8 Mar 2022, 3:13 p.m.
Panel Version: 2.131
There is enough evidence for this gene to be rated GREEN at the next major review.Created: 19 Jan 2021, 11:28 a.m. | Last Modified: 19 Jan 2021, 11:28 a.m.
Panel Version: 2.31
Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. Numerous variants and cases reported.Created: 19 Jan 2021, 11:28 a.m. | Last Modified: 19 Jan 2021, 11:28 a.m.
Panel Version: 2.31
Ian Berry (Leeds Genetics Laboratory)
Multiple publications reporting a subset of patients with simplified gyral pattern, in addition to the more recognisable features of cerebellar hypoplasia and microcephaly.
Sources: NHS GMSCreated: 15 Jan 2021, 5:04 p.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
Gyral simplification
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
- Phenotypes
-
- Mental retardation and microcephaly with pontine and cerebellar hypoplasia OMIM:300749
- OMIM
- 300172
- Clinvar variants
- Variants in CASK
- Penetrance
- None
- Publications
- Panels with this gene
-
- Malformations of cortical development
- Early onset or syndromic epilepsy
- Severe microcephaly
- Non-syndromic familial congenital anorectal malformations
- Clefting
- Albinism or congenital nystagmus
- Cerebellar hypoplasia
- Intellectual disability
- Hereditary ataxia with onset in adulthood
- Fetal anomalies
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Hereditary ataxia
- Ataxia and cerebellar anomalies - narrow panel
History Filter Activity
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: CASK were set to 21954287; 20595373; 32700313; 33090494; 33272775
Removed Tag
Eleanor Williams (Genomics England Curator)Tag for-review was removed from gene: CASK.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to CASK. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Sarah Leigh (Genomics England Curator)Tag for-review tag was added to gene: CASK.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: cask has been classified as Amber List (Moderate Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: CASK were set to 21954287; 20595373
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: CASK were changed from Gyral simplification to Mental retardation and microcephaly with pontine and cerebellar hypoplasia OMIM:300749
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: CASK were set to PMID: 21954287, 20595373
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ian Berry (Leeds Genetics Laboratory)gene: CASK was added gene: CASK was added to Malformations of cortical development. Sources: NHS GMS 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) Publications for gene: CASK were set to PMID: 21954287, 20595373 Phenotypes for gene: CASK were set to Gyral simplification Review for gene: CASK was set to GREEN gene: CASK was marked as current diagnostic