Severe microcephaly
Gene: CASKEnsemblGeneIds (GRCh38): ENSG00000147044
EnsemblGeneIds (GRCh37): ENSG00000147044
OMIM: 300172, Gene2Phenotype
CASK is in 15 panels
2 reviews
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
Rebecca Foulger (Genomics England curator)
Andrew Jackson (Professor of Human Genetics) reported that they have picked up CASK mutations for microcephaly.Created: 3 Jan 2017, 10:16 a.m.
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
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Other
- Emory Genetics Laboratory
- Phenotypes
-
- CASK-related XLID
- severe intellectual disability, brainstem and cerebellar hypoplasia, and microcephaly
- Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749
- MICPCH
- Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia, 300749
- OMIM
- 300172
- Clinvar variants
- Variants in CASK
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Non-syndromic familial congenital anorectal malformations
- Childhood onset dystonia, chorea or related movement disorder
- Cerebellar hypoplasia
- Severe microcephaly
- Clefting
- Adult onset neurodegenerative disorder
- Ataxia and cerebellar anomalies - narrow panel
- Malformations of cortical development
- Early onset or syndromic epilepsy
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Albinism or congenital nystagmus
- Hereditary ataxia
- Fetal anomalies
- DDG2P
History Filter Activity
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: CASK were set to
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to CASK.
panel promoted to version 1
Rebecca Foulger (Genomics England curator)2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Rebecca Foulger (Genomics England curator)CASK was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: UKGTN
Added New Source
Rebecca Foulger (Genomics England curator)CASK was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Radboud University Medical Center, Nijmegen
Set Mode of Inheritance, Added New Source
Rebecca Foulger (Genomics England curator)CASK was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Other Model 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)
Added New Source
Rebecca Foulger (Genomics England curator)CASK was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Emory Genetics Laboratory
Created
Rebecca Foulger (Genomics England curator)CASK was created by rfoulger