Severe microcephaly

Gene: CASK

Green List (high evidence)

CASK (calcium/calmodulin dependent serine protein kinase)
EnsemblGeneIds (GRCh38): ENSG00000147044
EnsemblGeneIds (GRCh37): ENSG00000147044
OMIM: 300172, Gene2Phenotype
CASK is in 15 panels

1 review

Rebecca Foulger (Genomics England curator)

Andrew Jackson (Professor of Human Genetics) reported that they have picked up CASK mutations for microcephaly.
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
  • 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
Panels with this gene

History Filter Activity

2 Mar 2017, Gel status: 4

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.

12 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

3 Jan 2017, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

CASK was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: UKGTN

3 Jan 2017, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

CASK was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Radboud University Medical Center, Nijmegen

3 Jan 2017, Gel status: 1

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)

3 Jan 2017, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

CASK was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Emory Genetics Laboratory

3 Jan 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

CASK was created by rfoulger