CDKL5 Chromosome X
Cyclin dependent kinase like 5
Upload your DNA to see your personal genotypes for variants in CDKL5.
What This Gene Does
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]
Gene Info
Gene Group
"Cyclin dependent kinases|Cilia and flagella associated"
Locus Type
gene with protein product
Location
Xp22.13
Ensembl
ENSG00000008086
Associated Conditions (24)
Angelman syndrome-like
Developmental and epileptic encephalopathy
2
West syndrome
Inborn genetic diseases
CDKL5 disorder
Atypical Rett syndrome
CDKL5-related disorder
Nonpapillary renal cell carcinoma
Developmental delay
Epileptic encephalopathy
Nicolaides-Baraitser syndrome
Thyroid cancer
nonmedullary
1
Abnormality of the nervous system
Autism
Rett syndrome
Seizure
Focal epilepsy
+4 more conditions
Key Variants
RS1005844306
Conflicting classifications of pathogenicity
Angelman syndrome-like, Developmental and epileptic encephalopathy, 2
Health Risk
RS1037569177
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 2, Angelman syndrome-like
Health Risk
RS1064794669
Conflicting classifications of pathogenicity
Angelman syndrome-like, Developmental and epileptic encephalopathy, 2
Health Risk
RS1064794671
Conflicting classifications of pathogenicity
Angelman syndrome-like, Developmental and epileptic encephalopathy, 2
Health Risk
RS1064796245
Conflicting classifications of pathogenicity
Angelman syndrome-like, Developmental and epileptic encephalopathy, 2
Health Risk
RS1064797360
Conflicting classifications of pathogenicity
Health Risk
RS1158418673
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 2, Angelman syndrome-like
Health Risk
RS1342864362
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 2, Angelman syndrome-like
Health Risk
RS1356745875
Conflicting classifications of pathogenicity
Angelman syndrome-like, Developmental and epileptic encephalopathy, 2
Health Risk
RS1378912528
Conflicting classifications of pathogenicity
Angelman syndrome-like, Developmental and epileptic encephalopathy, 2
Health Risk
RS1413641177
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 2, Angelman syndrome-like
Health Risk
RS1555950468
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 2, Angelman syndrome-like
Health Risk
All Variants (469)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2147132274 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS2147145565 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS2147160749 | Health Risk | Pathogenic/Likely pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS2518781128 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS2518851383 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS2518864219 | Health Risk | Pathogenic/Likely pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS267608395 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 2, Atypical Rett syndrome |
| RS267608420 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS267608429 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS267608433 | Health Risk | Pathogenic/Likely pathogenic | Atypical Rett syndrome, Developmental and epileptic encephalopathy, 2 |
| RS267608474 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 2, Rett syndrome |
| RS267608501 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 2, Epileptic encephalopathy |
| RS267608511 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS267608647 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS267608659 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS587783115 | Health Risk | Pathogenic/Likely pathogenic | CDKL5 disorder, Developmental and epileptic encephalopathy, 2 |
| RS587783131 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS61753251 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 2, Atypical Rett syndrome |
| RS786204973 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |