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

Ambry Genetics classifications

syndromic X-linked intellectual disability Najm type
Submitted as: OMIM:300749
XL
09/01/2023
Evaluated
01/02/2024
Submitted
FG syndrome 4
Submitted as: OMIM:300422
XL
10/15/2015
Evaluated
03/02/2021
Submitted

ClinGen classifications

X-linked syndromic intellectual disability
XL
07/09/2019
Evaluated
04/21/2024
Submitted

Invitae classifications

FG syndrome 4
Submitted as: OMIM:300422
XL
10/03/2022
Evaluated
11/30/2023
Submitted
syndromic X-linked intellectual disability Najm type
Submitted as: OMIM:300749
XL
05/09/2023
Evaluated
11/30/2023
Submitted

Orphanet classifications

developmental and epileptic encephalopathy
Submitted as: Orphanet:1934
AD
09/14/2021
Evaluated
09/14/2021
Submitted
syndromic X-linked intellectual disability Najm type
Submitted as: Orphanet:163937
XL
09/14/2021
Evaluated
09/14/2021
Submitted

G2P classifications

syndromic X-linked intellectual disability Najm type
Submitted as: OMIM:300749
XLD
07/22/2015
Evaluated
11/25/2020
Submitted
FG syndrome 4
Submitted as: OMIM:300422
XLR
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
07/22/2015
Evaluated
09/11/2023
Submitted
FG syndrome 4
Submitted as: OMIM:300422
XL
07/22/2015
Evaluated
09/11/2023
Submitted

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