Clefting
Gene: CASK
CASK (calcium/calmodulin dependent serine protein kinase)
EnsemblGeneIds (GRCh38): ENSG00000147044
EnsemblGeneIds (GRCh37): ENSG00000147044
OMIM: 300172, Gene2Phenotype
CASK is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000147044
EnsemblGeneIds (GRCh37): ENSG00000147044
OMIM: 300172, Gene2Phenotype
CASK is in 15 panels
1 review
Ellen McDonagh (Genomics England Curator)
Seems to be only mouse phenotype evidence. Clefting phenotype not associated with the diseases linked to this gene in Gene2Phenotype. PMID 17287346 - CASK KO mice exhibit no major developmental abnormalities apart from a partially penetrant cleft palate syndrome. Cleft not found in OMIM descripions or clinical synopsis for the diseases associated with CASK. Only mouse model evidence found in literature search.Created: 31 May 2017, 1:52 p.m.
Phenotypes
MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH
Details
- Sources
-
- Expert Review Red
- Phenotypes
-
- MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA
- MICPCH
- OMIM
- 300172
- Clinvar variants
- Variants in CASK
- Penetrance
- Complete
- Panels with this gene
-
- Non-syndromic familial congenital anorectal malformations
- DDG2P
- Cerebellar hypoplasia
- Clefting
- Adult onset neurodegenerative disorder
- Malformations of cortical development
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Albinism or congenital nystagmus
- Hereditary ataxia
- Early onset or syndromic epilepsy
- Fetal anomalies
- Severe microcephaly
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
31 May 2017, Gel status: 1
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
31 May 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)CASK was added to Cleftingpanel. Sources: Expert Review Red
31 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)CASK was created by ellenmcdonagh