Cerebellar hypoplasia

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 17 panels

2 reviews

Alice Gardham (Genomics England)

Comment on mode of inheritance: X-linked dominant disorder
Created: 3 Nov 2016, 10:04 a.m.

Ellen McDonagh (Genomics England Curator)

Phenotypes and mode of inheritance sourced from OMIM (X-linked dominant for Mental retardation and microcephaly with pontine and cerebellar hypoplasia).
Created: 8 Jan 2016, 10:05 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
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Other
  • Eligibility statement prior genetic testing
Phenotypes
  • Mental retardation and microcephaly with pontine and cerebellar hypoplasia
  • FG syndrome 4
  • Mental retardation, with or without nystagmus
  • Pontocerebellar Hypoplasia
  • Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749
  • FG syndrome 4, 300422
  • Mental retardation, with or without nystagmus, 300422
OMIM
300172
Clinvar variants
Variants in CASK
Penetrance
Complete
Panels with this gene

History Filter Activity

22 Feb 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

22/02/2017: Panel revised after internal clinical review and further curation.

3 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

3 Nov 2016, Gel status: 4

Set Mode of Inheritance

Alice Gardham (Genomics England)

Mode of inheritance for CASK was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

3 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

11 May 2016, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

CASK was added to Cerebellar hypoplasiapanel. Source: Radboud University Medical Center, Nijmegen

11 May 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CASK was added to Cerebellar hypoplasiapanel. Source: UKGTN

8 Jan 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene CASK were set to Mental retardation and microcephaly with pontine and cerebellar hypoplasia; FG syndrome 4; Mental retardation, with or without nystagmus

8 Jan 2016, Gel status: 0

Upload gene information

Ellen McDonagh (Genomics England Curator)

CASK was added to Cerebellar hypoplasiapanel. Sources: Other

8 Jan 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CASK was created by ellenmcdonagh

8 Jan 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CASK was added to Cerebellar hypoplasiapanel. Sources: Eligibility statement prior genetic testing