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  3. CASK
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Fetal anomalies

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 18 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

CASK-related disorders have microcephaly and structural brain abnormalities as features.
Created: 11 Jul 2020, 2:20 a.m. | Last Modified: 11 Nov 2021, 6:49 a.m.
Panel Version: 0.371

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
FG syndrome 4, MIM# 300422; Mental retardation, with or without nystagmus, MIM# 300422; Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia, MIM# 300749

Publications

Created: 11 Jul 2020, 2:20 a.m.
Last Modified: 11 Nov 2021, 6:49 a.m.
Panel version: 0.371

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
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • FG syndrome 4, MIM# 300422
  • Mental retardation, with or without nystagmus, MIM# 300422
  • Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia, MIM# 300749
OMIM
300172
Clinvar variants
Variants in CASK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cask has been classified as Green List (High Evidence).

11 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CASK were changed from MENTAL RETARDATION X-LINKED CASK-RELATED; MRX WITH/WITHOUT NYSTAGMUS; FG SYNDROME TYPE 4 to FG syndrome 4, MIM# 300422; Mental retardation, with or without nystagmus, MIM# 300422; Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia, MIM# 300749

11 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CASK were set to

11 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CASK was added gene: CASK was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp 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) Phenotypes for gene: CASK were set to MENTAL RETARDATION X-LINKED CASK-RELATED; MRX WITH/WITHOUT NYSTAGMUS; FG SYNDROME TYPE 4