Gene Symbol:
AP4S1
HGNC:575
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
14q12
Filters:

Definitive classifications

AP-4 deficiency syndrome
AR
04/25/2023
Evaluated
10/18/2023
Submitted

Strong classifications

hereditary spastic paraplegia 52
Submitted as: OMIM:614067
AR
07/22/2015
Evaluated
09/11/2023
Submitted
hereditary spastic paraplegia 52
Submitted as: OMIM:614067
AR
09/14/2020
Evaluated
11/30/2023
Submitted

Supportive classifications

AP4-related intellectual disability and spastic paraplegia
Submitted as: Orphanet:280763
AR
09/14/2021
Evaluated
09/14/2021
Submitted

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