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Intellectual disability syndromic and non-syndromic

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Microcephaly with pontine and cerebellar hypoplasia (MICPCH), generally associated with pathogenic loss-of-function variants in CASK
X-linked intellectual disability (XLID) with or without nystagmus, generally associated with hypomorphic CASK pathogenic variants
Created: 13 May 2024, 8:56 a.m. | Last Modified: 13 May 2024, 8:56 a.m.
Panel Version: 0.5812

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified DEFINITIVE by ClinGen ID and Autism GCEP on 09/07/2019 - https://search.clinicalgenome.org/CCID:004345
Created: 13 May 2024, 1:33 a.m. | Last Modified: 13 May 2024, 1:33 a.m.
Panel Version: 0.5798

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

Phenotypes
X-linked syndromic intellectual disability MONDO:0020119

Publications

  • https://search.clinicalgenome.org/CCID:004345

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • FG syndrome 4 MIM#300422
  • Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749
  • Intellectual disability, with or without nystagmus MIM#300422
OMIM
300172
Clinvar variants
Variants in CASK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 May 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CASK were set to

13 May 2024, 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).

13 May 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CASK were changed from to FG syndrome 4 MIM#300422; Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749; Intellectual disability, with or without nystagmus MIM#300422

13 May 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CASK was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CASK was added gene: CASK was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CASK was set to Unknown