Gene Symbol:
ALG2
HGNC:23159
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
9q22.33
Filters:

Strong classifications

congenital myasthenic syndrome 14
Submitted as: OMIM:616228
AR
01/29/2021
Evaluated
03/31/2021
Submitted
ALG2-congenital disorder of glycosylation
Submitted as: OMIM:607906
AR
07/22/2015
Evaluated
07/01/2021
Submitted
congenital myasthenic syndrome 14
Submitted as: OMIM:616228
AR
04/20/2022
Evaluated
11/30/2023
Submitted

Moderate classifications

congenital myasthenic syndrome 14
Submitted as: OMIM:616228
AR
10/26/2020
Evaluated
12/30/2020
Submitted

Supportive classifications

ALG2-congenital disorder of glycosylation
Submitted as: Orphanet:79326
AR
09/14/2021
Evaluated
09/14/2021
Submitted
congenital myasthenic syndromes with glycosylation defect
Submitted as: Orphanet:353327
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

ALG2-congenital disorder of glycosylation
Submitted as: OMIM:607906
AR
12/22/2020
Evaluated
12/24/2020
Submitted
ALG2-congenital disorder of glycosylation
Submitted as: OMIM:607906
Unknown
12/15/2018
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.