Gene Symbol:
DPM1
HGNC:3005
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
20q13.13
Filters:

Definitive classifications

SRD5A3-congenital disorder of glycosylation
Submitted as: OMIM:612379
AR
07/22/2015
Evaluated
09/11/2023
Submitted
congenital disorder of glycosylation type 1E
AR
10/04/2023
Evaluated
10/18/2023
Submitted

Strong classifications

congenital disorder of glycosylation type 1E
Submitted as: OMIM:608799
AR
12/22/2020
Evaluated
12/24/2020
Submitted
congenital disorder of glycosylation type 1E
Submitted as: OMIM:608799
AR
12/15/2018
Evaluated
11/30/2023
Submitted

Moderate classifications

congenital disorder of glycosylation type 1E
Submitted as: OMIM:608799
AR
11/05/2020
Evaluated
10/27/2022
Submitted

Supportive classifications

congenital disorder of glycosylation type 1E
Submitted as: Orphanet:79322
AR
09/14/2021
Evaluated
09/14/2021
Submitted

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