Gene Symbol:
AP1S2
HGNC:560
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
Xp22.2
Filters:

Definitive classifications

X-linked syndromic intellectual disability
XL
10/20/2017
Evaluated
10/18/2023
Submitted
syndromic X-linked intellectual disability 5
Submitted as: OMIM:304340
XLR
07/22/2015
Evaluated
07/01/2021
Submitted

Strong classifications

syndromic X-linked intellectual disability 5
Submitted as: OMIM:304340
XL
01/29/2021
Evaluated
03/31/2021
Submitted
syndromic X-linked intellectual disability 5
Submitted as: OMIM:304340
XL
04/16/2021
Evaluated
11/30/2023
Submitted

Moderate classifications

syndromic X-linked intellectual disability 5
Submitted as: OMIM:304340
XL
07/29/2015
Evaluated
03/02/2021
Submitted

Supportive classifications

syndromic X-linked intellectual disability 5
Submitted as: Orphanet:1568
XL
09/14/2021
Evaluated
09/14/2021
Submitted
fried syndrome
Submitted as: Orphanet:85335
XL
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

autism spectrum disorder
XL
08/14/2018
Evaluated
09/28/2021
Submitted

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