Gene Symbol:
CDKL5
HGNC:11411
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
Xp22.13
Filters:

Definitive classifications

developmental and epileptic encephalopathy, 2
Submitted as: OMIM:300672
XLD
07/22/2015
Evaluated
11/25/2020
Submitted
developmental and epileptic encephalopathy, 2
Submitted as: OMIM:300672
XL
03/12/2018
Evaluated
03/02/2021
Submitted

Strong classifications

developmental and epileptic encephalopathy, 2
Submitted as: OMIM:300672
XL
08/21/2019
Evaluated
12/24/2021
Submitted

Supportive classifications

developmental and epileptic encephalopathy
Submitted as: Orphanet:1934
AD
09/14/2021
Evaluated
09/14/2021
Submitted
AD
09/14/2021
Evaluated
09/14/2021
Submitted
atypical Rett syndrome
Submitted as: Orphanet:3095
AD
09/14/2021
Evaluated
09/14/2021
Submitted
developmental and epileptic encephalopathy, 2
Submitted as: Orphanet:505652
XL
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

XL
01/03/2018
Evaluated
09/28/2021
Submitted

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