Gene Symbol:
STXBP1
HGNC:11444
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
9q34.11
Filters:

Ambry Genetics classifications

intellectual disability
AD
08/31/2018
Evaluated
09/28/2021
Submitted
autism spectrum disorder
AD
01/03/2018
Evaluated
09/28/2021
Submitted
developmental and epileptic encephalopathy, 4
Submitted as: OMIM:612164
AR
07/30/2020
Evaluated
09/28/2021
Submitted

ClinGen classifications

developmental and epileptic encephalopathy
AD
10/20/2017
Evaluated
04/21/2024
Submitted

Invitae classifications

developmental and epileptic encephalopathy, 4
Submitted as: OMIM:612164
AD
03/16/2023
Evaluated
11/30/2023
Submitted

Orphanet classifications

developmental and epileptic encephalopathy
Submitted as: Orphanet:1934
AD
09/14/2021
Evaluated
09/14/2021
Submitted
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
AD
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal dominant non-syndromic intellectual disability
Submitted as: Orphanet:178469
AD
09/14/2021
Evaluated
09/14/2021
Submitted
undetermined early-onset epileptic encephalopathy
Submitted as: Orphanet:442835
AD
09/14/2021
Evaluated
09/14/2021
Submitted

G2P classifications

developmental and epileptic encephalopathy, 4
Submitted as: OMIM:612164
AD
07/22/2015
Evaluated
09/11/2023
Submitted

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