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 |
|---|---|---|---|
| RS267608490 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS267608493 | Health Risk | Pathogenic | Atypical Rett syndrome, Developmental and epileptic encephalopathy, 2 |
| RS267608497 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS267608505 | Health Risk | Pathogenic | Atypical Rett syndrome, CDKL5 disorder, Atypical Rett syndrome |
| RS267608528 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS267608537 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS267608546 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome |
| RS267608561 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS267608565 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS267608623 | Health Risk | Pathogenic | Atypical Rett syndrome, CDKL5 disorder, Atypical Rett syndrome |
| RS267608643 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Atypical Rett syndrome |
| RS267608646 | Health Risk | Pathogenic | Atypical Rett syndrome, CDKL5 disorder, Atypical Rett syndrome |
| RS267608648 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS267608650 | Health Risk | Pathogenic | Atypical Rett syndrome, Angelman syndrome-like, Developmental and epileptic encephalopathy |
| RS267608653 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS267608654 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS267608656 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS267608660 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS267608662 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS267608663 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Inborn genetic diseases |
| RS587783073 | Health Risk | Pathogenic | CDKL5 disorder, CDKL5 disorder |
| RS587783074 | Health Risk | Pathogenic | — |
| RS587783075 | Health Risk | Pathogenic | — |
| RS587783077 | Health Risk | Pathogenic | CDKL5 disorder, CDKL5 disorder |
| RS587783078 | Health Risk | Pathogenic | — |
| RS587783080 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS587783081 | Health Risk | Pathogenic | — |
| RS587783083 | Health Risk | Pathogenic | — |
| RS587783085 | Health Risk | Pathogenic | — |
| RS587783086 | Health Risk | Pathogenic | — |
| RS587783089 | Health Risk | Pathogenic | — |
| RS587783109 | Health Risk | Pathogenic | — |
| RS587783110 | Health Risk | Pathogenic | — |
| RS587783111 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS587783112 | Health Risk | Pathogenic | — |
| RS587783113 | Health Risk | Pathogenic | — |
| RS587783116 | Health Risk | Pathogenic | — |
| RS587783117 | Health Risk | Pathogenic | — |
| RS587783118 | Health Risk | Pathogenic | — |
| RS587783119 | Health Risk | Pathogenic | — |
| RS587783120 | Health Risk | Pathogenic | — |
| RS587783121 | Health Risk | Pathogenic | — |
| RS587783123 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS587783124 | Health Risk | Pathogenic | CDKL5-related disorder, CDKL5-related disorder |
| RS587783125 | Health Risk | Pathogenic | — |
| RS587783126 | Health Risk | Pathogenic | — |
| RS587783130 | Health Risk | Pathogenic | — |
| RS587783145 | Health Risk | Pathogenic | — |
| RS587783151 | Health Risk | Pathogenic | — |
| RS587783155 | Health Risk | Pathogenic | — |