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  3. DPM1
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Muscular dystrophy and myopathy_Paediatric

Gene: DPM1

Green List (high evidence)
DPM1 (dolichyl-phosphate mannosyltransferase subunit 1, catalytic)
EnsemblGeneIds (GRCh38): ENSG00000000419
EnsemblGeneIds (GRCh37): ENSG00000000419
OMIM: 603503, Gene2Phenotype
DPM1 is in 10 panels

2 reviews

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Loss of function proven - reduced enzyme activity and binding to DMP3 (PMID: 23856421).
Created: 17 Jul 2020, 2:35 a.m. | Last Modified: 17 Jul 2020, 2:35 a.m.
Panel Version: 0.3377

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Ie, 608799

Publications

Created: 17 Jul 2020, 2:35 a.m.
Last Modified: 17 Jul 2020, 2:35 a.m.
Panel version: Imported from Mendeliome panel version 0.3377

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Two cases reported with muscular dystrophy/distal myopathy.
Sources: Expert Review
Created: 25 Feb 2020, 12:19 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Ie MIM#608799

Publications

Created: 25 Feb 2020, 12:19 a.m.

Panel version: Imported from Myopathy - paediatric onset panel version 0.78

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DPM1 was added gene: DPM1 was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DPM1 was set to Unknown