Gene Symbol:
CHD2
HGNC:1917
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
15q26.1
Filters:

ClinGen classifications

complex neurodevelopmental disorder
AD
07/14/2022
Evaluated
04/21/2024
Submitted

Invitae classifications

developmental and epileptic encephalopathy 94
Submitted as: OMIM:615369
AD
10/31/2023
Evaluated
11/30/2023
Submitted

Orphanet classifications

Lennox-Gastaut syndrome
Submitted as: Orphanet:2382
AD
09/14/2021
Evaluated
09/14/2021
Submitted
myoclonic-astatic epilepsy
Submitted as: Orphanet:1942
Unknown
09/14/2021
Evaluated
09/14/2021
Submitted

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