CASK Chromosome X
Calcium/calmodulin dependent serine protein kinase
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What This Gene Does
This gene encodes a calcium/calmodulin-dependent serine protein kinase. The encoded protein is a MAGUK (membrane-associated guanylate kinase) protein family member. These proteins are scaffold proteins and the encoded protein is located at synapses in the brain. Mutations in this gene are associated with FG syndrome 4, intellectual disability and microcephaly with pontine and cerebellar hypoplasia, and a form of X-linked intellectual disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
Gene Info
Gene Group
"Membrane associated guanylate kinases|PDZ domain containing|CASK family"
Locus Type
gene with protein product
Location
Xp11.4
Ensembl
ENSG00000147044
Associated Conditions (29)
Intellectual disability
CASK-related
X-linked
Inborn genetic diseases
FG syndrome 4
Syndromic X-linked intellectual disability Najm type
CASK-related disorder
Nonpapillary renal cell carcinoma
Global developmental delay
Congenital cerebellar hypoplasia
Primary microcephaly
Hypertonia
Nystagmus
Clear cell carcinoma of kidney
Thyroid cancer
nonmedullary
1
CASK-related intellectual disability and microcephaly with pontine and cerebellar hypoplasia
Neurodevelopmental disorder
X-linked syndromic intellectual disability
+9 more conditions
Key Variants
RS1297266241
Conflicting classifications of pathogenicity
Intellectual disability, CASK-related, X-linked
Health Risk
RS1361659361
Conflicting classifications of pathogenicity
Intellectual disability, CASK-related, X-linked
Health Risk
RS1372580366
Conflicting classifications of pathogenicity
Intellectual disability, CASK-related, X-linked
Health Risk
RS137852817
Conflicting classifications of pathogenicity
FG syndrome 4, Intellectual disability, CASK-related
Health Risk
RS137852820
Conflicting classifications of pathogenicity
FG syndrome 4, Syndromic X-linked intellectual disability Najm type, Intellectual disability
Health Risk
RS137964936
Conflicting classifications of pathogenicity
Intellectual disability, CASK-related, X-linked
Health Risk
RS138646715
Conflicting classifications of pathogenicity
Intellectual disability, CASK-related, X-linked
Health Risk
RS141840001
Conflicting classifications of pathogenicity
Intellectual disability, CASK-related, X-linked
Health Risk
RS1421702106
Conflicting classifications of pathogenicity
Intellectual disability, CASK-related, X-linked
Health Risk
RS145641295
Conflicting classifications of pathogenicity
Intellectual disability, CASK-related, X-linked
Health Risk
RS1468715588
Conflicting classifications of pathogenicity
Intellectual disability, CASK-related, X-linked
Health Risk
RS1555989321
Conflicting classifications of pathogenicity
Intellectual disability, CASK-related, X-linked
Health Risk
All Variants (204)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2519819468 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, CASK-related, X-linked |
| RS398122845 | Health Risk | Pathogenic/Likely pathogenic | Inability to walk, Dystonic disorder, Nystagmus |
| RS587783361 | Health Risk | Pathogenic/Likely pathogenic | Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type |
| RS779508996 | Health Risk | Pathogenic/Likely pathogenic | Syndromic X-linked intellectual disability Najm type, FG syndrome 4, Intellectual disability |