Developmental And Epileptic Encephalopathy, 2(CDKL5 deficiency disorder) Explore Disorder's Alias
An XRL mode(s) within the Neurodevelopmental disorders category
Candidate Gene Information
An XRL mode(s) within the Neurodevelopmental disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | CDKL5/6792 | cyclin dependent kinase like 5 | Xp22.13 | ChrX, NC_000023.11 (18425608..18653629) |
228022 nt | 23 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | WWOX/51741 | WW domain containing oxidoreductase | 16q23.1 | Chr16, NC_000016.10 (78099654..79212667) |
1113014 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | NECAP1/25977 | NECAP endocytosis associated 1 | 12p13.31 | Chr12, NC_000012.12 (8082274..8097881) |
15608 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | DOCK7/85440 | dedicator of cytokinesis 7 | 1p31.3 | Chr1, NC_000001.11 (62454726..62688386, complement) |
233661 nt | 53 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | HCN1/348980 | hyperpolarization activated cyclic nucleotide gated potassium channel 1 | 5p12 | Chr5, NC_000005.10 (45254948..45696380, complement) |
441433 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | SLC13A5/284111 | solute carrier family 13 member 5 | 17p13.1 | Chr17, NC_000017.11 (6684719..6713369, complement) |
28651 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | KCNB1/3745 | potassium voltage-gated channel subfamily B member 1 | 20q13.13 | Chr20, NC_000020.11 (49363877..49483362, complement) |
119486 nt | 3 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 8 | GRIN2B/2904 | glutamate ionotropic receptor NMDA type subunit 2B | 12p13.1 | Chr12, NC_000012.12 (13537337..13982134, complement) |
444798 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 9 | AARS1/16 | alanyl-tRNA synthetase 1 | 16q22.1 | Chr16, NC_000016.10 (70252298..70289506, complement) |
37209 nt | 21 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 10 | SNAP25/6616 | synaptosome associated protein 25 | 20p12.2 | Chr20, NC_000020.11 (10218830..10307418) |
88589 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information Highlighted rows indicate variants are reported from India | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||