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 |
|---|---|---|---|
| RS1555954752 | Health Risk | Likely pathogenic | West syndrome, West syndrome |
| RS1555955268 | Health Risk | Likely pathogenic | — |
| RS1555955290 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS1569213917 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS1569219331 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS1569231336 | Health Risk | Likely pathogenic | Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome |
| RS1602232972 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS1602263431 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS1602269367 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS1602271643 | Health Risk | Likely pathogenic | — |
| RS1602272932 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS1602274251 | Health Risk | Likely pathogenic | — |
| RS1602276088 | Health Risk | Likely pathogenic | — |
| RS1602280455 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, Abnormality of the nervous system |
| RS1602282692 | Health Risk | Likely pathogenic | — |
| RS1602300882 | Health Risk | Likely pathogenic | — |
| RS1922605766 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS1922607139 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, Nonpapillary renal cell carcinoma |
| RS1924899673 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS1925418549 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS1925423909 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS1925492808 | Health Risk | Likely pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS1925697105 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS1925697823 | Health Risk | Likely pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS1925702601 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1926471092 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS1926476615 | Health Risk | Likely pathogenic | — |
| RS1927146242 | Health Risk | Likely pathogenic | CDKL5-related disorder, CDKL5-related disorder |
| RS2147132235 | Health Risk | Likely pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS2147132253 | Health Risk | Likely pathogenic | — |
| RS2147139522 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS2147139669 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS2147139674 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS2147143992 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS2147145500 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS2147145603 | Health Risk | Likely pathogenic | CDKL5 disorder, CDKL5 disorder |
| RS2147147959 | Health Risk | Likely pathogenic | — |
| RS2147148013 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS2147148081 | Health Risk | Likely pathogenic | Epileptic encephalopathy, Epileptic encephalopathy |
| RS2147148092 | Health Risk | Likely pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS2147160942 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS2518776931 | Health Risk | Likely pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS2518844546 | Health Risk | Likely pathogenic | — |
| RS2518844555 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS2518849210 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS2518849341 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS2518851309 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 1, Developmental and epileptic encephalopathy |
| RS2518853508 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS2518853557 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS2518853563 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |