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

AP-4 deficiency syndrome classifications

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

AP4-related intellectual disability and spastic paraplegia classifications

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

Hereditary spastic paraplegia 52 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

The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact gencc@thegencc.org.