Gene Symbol:
MYO9A
HGNC:7608
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
15q23
Filters:

Strong classifications

myasthenic syndrome, congenital, 24, presynaptic
Submitted as: OMIM:618198
AR
01/29/2021
Evaluated
03/31/2021
Submitted
myasthenic syndrome, congenital, 24, presynaptic
Submitted as: OMIM:618198
AR
10/26/2020
Evaluated
12/30/2020
Submitted

Supportive classifications

presynaptic congenital myasthenic syndrome
Submitted as: Orphanet:98914
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

myasthenic syndrome, congenital, 24, presynaptic
Submitted as: OMIM:618198
AR
06/01/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more
arthrogryposis syndrome
AR
11/24/2016
Evaluated
10/18/2023
Submitted
myasthenic syndrome, congenital, 24, presynaptic
Submitted as: OMIM:618198
Unknown
02/11/2022
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.