Gene Symbol:
DPAGT1
HGNC:2995
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
11q23.3
Filters:

Definitive classifications

congenital myasthenic syndrome 13
Submitted as: OMIM:614750
AR
07/22/2015
Evaluated
09/11/2023
Submitted
hematopoietic stem cell kinetics, control of
Submitted as: OMIM:300129
AR
07/22/2015
Evaluated
09/11/2023
Submitted

Strong classifications

congenital myasthenic syndrome 13
Submitted as: OMIM:614750
AR
01/29/2021
Evaluated
03/31/2021
Submitted
congenital myasthenic syndrome 13
Submitted as: OMIM:614750
AR
10/26/2020
Evaluated
12/30/2020
Submitted
DPAGT1-congenital disorder of glycosylation
AR
12/22/2020
Evaluated
12/24/2020
Submitted
DPAGT1-congenital disorder of glycosylation
Submitted as: OMIM:608093
AR
12/15/2018
Evaluated
11/30/2023
Submitted
congenital myasthenic syndrome 13
Submitted as: OMIM:614750
AR
04/09/2020
Evaluated
11/30/2023
Submitted

Supportive classifications

DPAGT1-congenital disorder of glycosylation
Submitted as: Orphanet:86309
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

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