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 |
|---|---|---|---|
| RS1926837956 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS1926838663 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS1927001903 | Health Risk | Pathogenic | CDKL5 disorder, CDKL5 disorder |
| RS1927139054 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS1927142990 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS2147132223 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS2147139532 | Health Risk | Pathogenic | — |
| RS2147139605 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS2147139684 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS2147142586 | Health Risk | Pathogenic | — |
| RS2147142599 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS2147142645 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS2147144049 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS2147145614 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS2147147996 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS2147148032 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS2147148055 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS2147153521 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS2147153531 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS2147156094 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS2147156107 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS2147156191 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS2147160087 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS2147160115 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS2147160162 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS2147160237 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS2147160283 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS2147160726 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS2147160886 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS2147160920 | Health Risk | Pathogenic | — |
| RS2147161009 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS2147161299 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS2147161353 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS2147164191 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS2147164676 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS2147164710 | Health Risk | Pathogenic | — |
| RS2147167570 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS2147167604 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS2147175902 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS2147178955 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS2147178971 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS2147179000 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS2147179071 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS2518776876 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS2518776911 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS2518781124 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS2518781132 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS2518834440 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS2518844536 | Health Risk | Pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS2518844542 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |