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 |
|---|---|---|---|
| RS1569220925 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS1569225454 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS1602230515 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS1602271715 | Health Risk | Pathogenic | — |
| RS1602271718 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS1602276166 | Health Risk | Pathogenic | — |
| RS1602282699 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS1602282705 | Health Risk | Pathogenic | — |
| RS1602286005 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 4, Developmental and epileptic encephalopathy |
| RS1602286285 | Health Risk | Pathogenic | — |
| RS1602286391 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS1602286449 | Health Risk | Pathogenic | — |
| RS1602286792 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS1602286899 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS1602292181 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS1602295727 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS1602298653 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS1602300837 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS17857094 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Thyroid cancer |
| RS1922607301 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS1925261282 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS1925420814 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS1925421198 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS1925421858 | Health Risk | Pathogenic | — |
| RS1925492354 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS1925493252 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS1925573011 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS1925574557 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS1925577525 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS1925701271 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS1925705674 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS1926078505 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS1926080187 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS1926080344 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS1926254082 | Health Risk | Pathogenic | — |
| RS1926255341 | Health Risk | Pathogenic | — |
| RS1926261579 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS1926262196 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS1926283743 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS1926283887 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS1926298368 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS1926298521 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS1926301954 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Inborn genetic diseases |
| RS1926303951 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS1926305134 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS1926450614 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS1926473501 | Health Risk | Pathogenic | Seizure, Seizure |
| RS1926616715 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS1926617807 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS1926620965 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |