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 |
|---|---|---|---|
| RS2518844612 | Health Risk | Pathogenic | Inborn genetic diseases, Developmental and epileptic encephalopathy, 2 |
| RS2518849265 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS2518849359 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS2518851267 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS2518851314 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS2518851425 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS2518853437 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS2518853500 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS2518853529 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS2518853631 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS2518857411 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS2518857486 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS2518857554 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS2518864177 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS2518868022 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS2518873766 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS2518873820 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS2518873890 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS2518874058 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS2518874157 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS2518874193 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS2518874530 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS2518874652 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS2518875232 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS2518875430 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS2518880323 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2518880329 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS2518880338 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS2518881185 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS2518881309 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS2518884888 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2518884926 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS2518884945 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS2518890460 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS2518890612 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS2518894988 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS2518895113 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS2518898617 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS267606715 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS267608419 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS267608423 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS267608430 | Health Risk | Pathogenic | Atypical Rett syndrome, CDKL5 disorder, Atypical Rett syndrome |
| RS267608436 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS267608441 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS267608453 | Health Risk | Pathogenic | Atypical Rett syndrome, CDKL5 disorder, Atypical Rett syndrome |
| RS267608468 | Health Risk | Pathogenic | Atypical Rett syndrome, Developmental and epileptic encephalopathy, 2 |
| RS267608472 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS267608477 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS267608479 | Health Risk | Pathogenic | Atypical Rett syndrome, Angelman syndrome-like, Developmental and epileptic encephalopathy |
| RS267608480 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Inborn genetic diseases |