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 |
|---|---|---|---|
| RS886043453 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS1057518203 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS1057519541 | Health Risk | Pathogenic | Focal epilepsy, Focal epilepsy |
| RS1057519542 | Health Risk | Pathogenic | Epileptic encephalopathy, Epileptic encephalopathy |
| RS1057524663 | Health Risk | Pathogenic | — |
| RS1060501860 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS1064793376 | Health Risk | Pathogenic | — |
| RS1064793381 | Health Risk | Pathogenic | — |
| RS1064796503 | Health Risk | Pathogenic | — |
| RS1085307470 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS1131691926 | Health Risk | Pathogenic | — |
| RS122460158 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Atypical Rett syndrome |
| RS122460159 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Atypical Rett syndrome |
| RS1555940533 | Health Risk | Pathogenic | — |
| RS1555949011 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS1555949041 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS1555949752 | Health Risk | Pathogenic | — |
| RS1555949763 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS1555950066 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS1555950455 | Health Risk | Pathogenic | — |
| RS1555950465 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS1555950470 | Health Risk | Pathogenic | — |
| RS1555950486 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS1555950494 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS1555951141 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy |
| RS1555951142 | Health Risk | Pathogenic | — |
| RS1555951146 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS1555951954 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1555951958 | Health Risk | Pathogenic | CDKL5 disorder, CDKL5 disorder |
| RS1555951981 | Health Risk | Pathogenic | Inborn genetic diseases, CDKL5 disorder, Inborn genetic diseases |
| RS1555951991 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS1555952015 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Thyroid cancer |
| RS1555952052 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS1555952063 | Health Risk | Pathogenic | — |
| RS1555952101 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS1555952163 | Health Risk | Pathogenic | — |
| RS1555952732 | Health Risk | Pathogenic | Inborn genetic diseases, CDKL5 disorder, Angelman syndrome-like |
| RS1555954074 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS1555954078 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS1555954737 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS1555955237 | Health Risk | Pathogenic | — |
| RS1555955296 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS1569213054 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS1569215594 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS1569215645 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1569215664 | Health Risk | Pathogenic | — |
| RS1569218019 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS1569218064 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS1569219346 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1569219844 | Health Risk | Pathogenic | Epileptic encephalopathy, Epileptic encephalopathy |