Gene Symbol:
CASK
HGNC:1497
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
Xp11.4
Filters:

Developmental and epileptic encephalopathy classifications

developmental and epileptic encephalopathy
Submitted as: Orphanet:1934
AD
09/14/2021
Evaluated
09/14/2021
Submitted

FG syndrome 4 classifications

FG syndrome 4
Submitted as: OMIM:300422
XLR
07/22/2015
Evaluated
11/25/2020
Submitted
FG syndrome 4
Submitted as: OMIM:300422
XL
10/15/2015
Evaluated
03/02/2021
Submitted
FG syndrome 4
Submitted as: OMIM:300422
XL
07/22/2015
Evaluated
09/11/2023
Submitted
FG syndrome 4
Submitted as: OMIM:300422
XL
10/03/2022
Evaluated
11/30/2023
Submitted

Syndromic X-linked intellectual disability Najm type classifications

syndromic X-linked intellectual disability Najm type
Submitted as: OMIM:300749
XLD
07/22/2015
Evaluated
11/25/2020
Submitted
syndromic X-linked intellectual disability Najm type
Submitted as: OMIM:300749
XLR
07/22/2015
Evaluated
11/25/2020
Submitted
syndromic X-linked intellectual disability Najm type
Submitted as: OMIM:300749
XL
09/01/2023
Evaluated
01/02/2024
Submitted
syndromic X-linked intellectual disability Najm type
Submitted as: Orphanet:163937
XL
09/14/2021
Evaluated
09/14/2021
Submitted
syndromic X-linked intellectual disability Najm type
Submitted as: OMIM:300749
XL
07/22/2015
Evaluated
09/11/2023
Submitted
syndromic X-linked intellectual disability Najm type
Submitted as: OMIM:300749
XL
05/09/2023
Evaluated
11/30/2023
Submitted

X-linked syndromic intellectual disability classifications

X-linked syndromic intellectual disability
XL
07/09/2019
Evaluated
10/18/2023
Submitted

The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact gencc@thegencc.org.