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 |
|---|---|---|---|
| RS2518853590 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2518857357 | Health Risk | Likely pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS2518857400 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS2518864113 | Health Risk | Likely pathogenic | Inborn genetic diseases, CDKL5 disorder, Developmental and epileptic encephalopathy |
| RS2518864230 | Health Risk | Likely pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS2518867690 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS2518873941 | Health Risk | Likely pathogenic | Developmental delay, Developmental delay |
| RS2518874564 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS2518875266 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS2518898936 | Health Risk | Likely pathogenic | Autism, Autism |
| RS2518922040 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS267606713 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS267608415 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS267608418 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS267608421 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, West syndrome |
| RS267608500 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS267608532 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS267608542 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS267608552 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS267608553 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS267608566 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS267608618 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS267608644 | Health Risk | Likely pathogenic | Atypical Rett syndrome, CDKL5 disorder, Atypical Rett syndrome |
| RS267608651 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS267608655 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS267608657 | Health Risk | Likely pathogenic | Atypical Rett syndrome, CDKL5 disorder, Atypical Rett syndrome |
| RS267608661 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS587783071 | Health Risk | Likely pathogenic | — |
| RS587783084 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS587783087 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS587783088 | Health Risk | Likely pathogenic | — |
| RS587783149 | Health Risk | Likely pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS587783406 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS61749700 | Health Risk | Likely pathogenic | Atypical Rett syndrome, Developmental and epileptic encephalopathy, 2 |
| RS61749704 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS62641235 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, Rett syndrome |
| RS786204965 | Health Risk | Likely pathogenic | CDKL5 disorder, CDKL5 disorder |
| RS786204966 | Health Risk | Likely pathogenic | Atypical Rett syndrome, CDKL5 disorder, Atypical Rett syndrome |
| RS786204968 | Health Risk | Likely pathogenic | Atypical Rett syndrome, CDKL5 disorder, Atypical Rett syndrome |
| RS786204970 | Health Risk | Likely pathogenic | Atypical Rett syndrome, CDKL5 disorder, Atypical Rett syndrome |
| RS786204971 | Health Risk | Likely pathogenic | CDKL5 disorder, CDKL5 disorder |
| RS786204974 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS786204980 | Health Risk | Likely pathogenic | CDKL5 disorder, CDKL5 disorder |
| RS786204981 | Health Risk | Likely pathogenic | Atypical Rett syndrome, CDKL5 disorder, Atypical Rett syndrome |
| RS786204986 | Health Risk | Likely pathogenic | Atypical Rett syndrome, CDKL5 disorder, Developmental and epileptic encephalopathy |
| RS786204988 | Health Risk | Likely pathogenic | Atypical Rett syndrome, CDKL5 disorder, Atypical Rett syndrome |
| RS786204990 | Health Risk | Likely pathogenic | Atypical Rett syndrome, CDKL5 disorder, Atypical Rett syndrome |
| RS786204992 | Health Risk | Likely pathogenic | Atypical Rett syndrome, CDKL5 disorder, Developmental and epileptic encephalopathy |
| RS863225066 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS863225289 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |