CDKL5 cyclin dependent kinase like 5
Gene ID: 6792, updated on 2-Nov-2024Gene type: protein coding
Also known as: DEE2; ISSX; STK9; EIEE2; CFAP247
- See all available tests in GTR for this gene
- Go to complete Gene record for CDKL5
- Go to Variation Viewer for CDKL5 variants
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
| Description | Tests |
|---|---|
| Angelman syndrome-like MedGen: CN128785GeneReviews: Not available | See labs |
| Developmental and epileptic encephalopathy, 2 | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2012-07-12) ClinGen Genome Curation PageHaploinsufficency 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 (18425608..18653629)
- Total number of exons:
- 23
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CDKL5 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- CDKL5 @ LOVD
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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