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 |
|---|---|---|---|
| RS587783158 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS587783159 | Health Risk | Pathogenic | Thyroid cancer, nonmedullary, 1 |
| RS587783398 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS587783399 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS587783401 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS587783405 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, 8 conditions |
| RS61750250 | Health Risk | Pathogenic | Atypical Rett syndrome, CDKL5 disorder, Atypical Rett syndrome |
| RS62643608 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Autism |
| RS62643614 | Health Risk | Pathogenic | Atypical Rett syndrome, Angelman syndrome-like, Developmental and epileptic encephalopathy |
| RS62653623 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Atypical Rett syndrome |
| RS751789670 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Thyroid cancer |
| RS766511365 | Health Risk | Pathogenic | — |
| RS786204962 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS786204964 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS786204967 | Health Risk | Pathogenic | Epileptic encephalopathy, Inborn genetic diseases, Developmental and epileptic encephalopathy |
| RS786204969 | Health Risk | Pathogenic | Atypical Rett syndrome, Developmental and epileptic encephalopathy, 2 |
| RS786204972 | Health Risk | Pathogenic | Atypical Rett syndrome, CDKL5 disorder, Atypical Rett syndrome |
| RS786204975 | Health Risk | Pathogenic | Atypical Rett syndrome, CDKL5 disorder, Atypical Rett syndrome |
| RS786204976 | Health Risk | Pathogenic | Atypical Rett syndrome, Developmental and epileptic encephalopathy, 2 |
| RS786204977 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS786204978 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS786204979 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS786204982 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS786204983 | Health Risk | Pathogenic | Atypical Rett syndrome, Developmental and epileptic encephalopathy, 2 |
| RS786204984 | Health Risk | Pathogenic | Atypical Rett syndrome, Developmental and epileptic encephalopathy, 2 |
| RS786204985 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS786204987 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS786204989 | Health Risk | Pathogenic | Atypical Rett syndrome, Developmental and epileptic encephalopathy, 2 |
| RS794727063 | Health Risk | Pathogenic | — |
| RS794727064 | Health Risk | Pathogenic | — |
| RS863225065 | Health Risk | Pathogenic | — |
| RS863225290 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS875989880 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS875989950 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS886041673 | Health Risk | Pathogenic | — |
| RS886041764 | Health Risk | Pathogenic | — |
| RS886041872 | Health Risk | Pathogenic | — |
| RS886042014 | Health Risk | Pathogenic | — |
| RS886042303 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy |
| RS886042899 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS886043296 | Health Risk | Pathogenic | — |
| RS886043742 | Health Risk | Pathogenic | — |
| RS886044424 | Health Risk | Pathogenic | — |
| RS1064795672 | Health Risk | Pathogenic/Likely pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS122460157 | Health Risk | Pathogenic/Likely pathogenic | Atypical Rett syndrome, Developmental and epileptic encephalopathy, 2 |
| RS1555950083 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS1569215629 | Health Risk | Pathogenic/Likely pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS1569220754 | Health Risk | Pathogenic/Likely pathogenic | CDKL5 disorder, CDKL5 disorder |
| RS1602295779 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS1925696959 | Health Risk | Pathogenic/Likely pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |