1. Panels
  2. Cerebellar and Pontocerebellar Hypoplasia
  3. CASK
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Cerebellar and Pontocerebellar 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 18 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association. XLD.
Created: 13 Feb 2021, 10:25 a.m. | Last Modified: 13 Feb 2021, 10:25 a.m.
Panel Version: 0.169

Mode of inheritance
Other

Phenotypes
Mental retardation and microcephaly with pontine and cerebellar hypoplasia, MIM# 300749

Created: 13 Feb 2021, 10:25 a.m.
Last Modified: 13 Feb 2021, 10:25 a.m.
Panel version: 0.169

History Filter Activity

13 Feb 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).

13 Feb 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CASK were changed from to Mental retardation and microcephaly with pontine and cerebellar hypoplasia, MIM# 300749

13 Feb 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 Unknown to Other

17 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 Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CASK was set to Unknown