CDKL5 Chromosome X
Cyclin dependent kinase like 5
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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 |
|---|---|---|---|
| RS1005844306 | Health Risk | Conflicting classifications of pathogenicity | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS1037569177 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS1064794669 | Health Risk | Conflicting classifications of pathogenicity | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS1064794671 | Health Risk | Conflicting classifications of pathogenicity | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS1064796245 | Health Risk | Conflicting classifications of pathogenicity | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS1064797360 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1158418673 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS1342864362 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS1356745875 | Health Risk | Conflicting classifications of pathogenicity | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS1378912528 | Health Risk | Conflicting classifications of pathogenicity | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS1413641177 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS1555950468 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS1555952013 | Health Risk | Conflicting classifications of pathogenicity | West syndrome, Developmental and epileptic encephalopathy, 2 |
| RS1569229724 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS1602298609 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS1602300816 | Health Risk | Conflicting classifications of pathogenicity | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS1922801133 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS1926294168 | Health Risk | Conflicting classifications of pathogenicity | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS199897804 | Health Risk | Conflicting classifications of pathogenicity | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS200333632 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS2147144038 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS2147148016 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS2518857335 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS2518857515 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Developmental and epileptic encephalopathy, 2 |
| RS587783072 | Health Risk | Conflicting classifications of pathogenicity | Atypical Rett syndrome, CDKL5 disorder, Atypical Rett syndrome |
| RS587783153 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS727503846 | Health Risk | Conflicting classifications of pathogenicity | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS747554139 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS752279222 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS757402424 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS759083770 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS761662406 | Health Risk | Conflicting classifications of pathogenicity | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS767817521 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Developmental and epileptic encephalopathy, 2 |
| RS773760466 | Health Risk | Conflicting classifications of pathogenicity | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS781435432 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS781452978 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS786204963 | Health Risk | Conflicting classifications of pathogenicity | Atypical Rett syndrome, Inborn genetic diseases, CDKL5 disorder |
| RS921600020 | Health Risk | Conflicting classifications of pathogenicity | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS942884617 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1057518759 | Health Risk | Likely pathogenic | Developmental delay, Epileptic encephalopathy, Developmental delay |
| RS1057521806 | Health Risk | Likely pathogenic | — |
| RS1060501859 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS1064794734 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, Angelman syndrome-like |
| RS1064794919 | Health Risk | Likely pathogenic | — |
| RS1085307934 | Health Risk | Likely pathogenic | — |
| RS1310022305 | Health Risk | Likely pathogenic | Angelman syndrome-like, Developmental and epileptic encephalopathy, 2 |
| RS1555947847 | Health Risk | Likely pathogenic | — |
| RS1555949009 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 2, CDKL5 disorder |
| RS1555949033 | Health Risk | Likely pathogenic | — |
| RS1555952078 | Health Risk | Likely pathogenic | West syndrome, West syndrome |