Malformations of cortical development
Gene: CASK
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
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
Publications for gene: CASK were set to 21954287; 20595373; 32700313; 33090494; 33272775
Tag for-review was removed from gene: CASK.
Source Expert Review Green was added to CASK. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag for-review tag was added to gene: CASK.
Gene: cask has been classified as Amber List (Moderate Evidence).
Publications for gene: CASK were set to 21954287; 20595373
Phenotypes for gene: CASK were changed from Gyral simplification to Mental retardation and microcephaly with pontine and cerebellar hypoplasia OMIM:300749
Publications for gene: CASK were set to PMID: 21954287, 20595373
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