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CDKL5 cyclin dependent kinase like 5

Also known as: ISSX; STK9; EIEE2; CFAP247

Summary

This gene is a member of Ser/Thr protein kinase family and encodes a phosphorylated protein with protein kinase activity. Mutations in this gene have been associated with X-linked infantile spasm syndrome (ISSX), also known as X-linked West syndrome, and Rett syndrome (RTT). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Angelman syndrome-like
MedGen: CN128785GeneReviews: Not available
See labs
Early infantile epileptic encephalopathy 2
MedGen: C1839333OMIM: 300672GeneReviews: Not available
See labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-07-12)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-07-12)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
Xp22.13
Sequence:
Chromosome: X; NC_000023.11 (18425605..18653629)
Total number of exons:
23

Links

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