Muscular dystrophy and myopathy_Paediatric
Gene: DPM3

DPM3 (dolichyl-phosphate mannosyltransferase subunit 3)
EnsemblGeneIds (GRCh38): ENSG00000179085
EnsemblGeneIds (GRCh37): ENSG00000179085
OMIM: 605951, Gene2Phenotype
DPM3 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Dolichol-phosphate-mannose is a mannosyl donor important for the biosynthesis of various glycoconjugates. Bi-allelic variants have predominantly been reported in association with a limb-girdle muscular dystrophy phenotype, although one individual reported with CNS involvement (PMID 31469168). Variable age of onset including paediatric.
Created: 28 Nov 2020, 5:10 a.m. | Last Modified: 28 Nov 2020, 5:10 a.m.

Panel Version: 0.76

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 , MIM#612937; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 618992

Publications

Created: 28 Nov 2020, 5:10 a.m.
Last Modified: 28 Nov 2020, 5:10 a.m.
Panel version: 0.76

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 , MIM#612937
Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 618992

OMIM

605951

Clinvar variants

Variants in DPM3

Penetrance

None

Publications

Panels with this gene