1. Panels
  2. Limb-Girdle Muscular Dystrophy and Distal Myopathy
  3. DPM3
Regions in panel
Prev Next

Limb-Girdle Muscular Dystrophy and Distal Myopathy

Gene: DPM3

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

2 reviews

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).
Created: 28 Nov 2020, 5:07 a.m. | Last Modified: 28 Nov 2020, 5:07 a.m.
Panel Version: 0.5496

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, 5:07 a.m.
Last Modified: 28 Nov 2020, 5:07 a.m.
Panel version: Imported from Mendeliome panel version 0.5496

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

>3 cases with limb girdle muscular dystrophy, adult onset reported.
Sources: Expert Review
Created: 25 Feb 2020, 12:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 MIM#612937

Publications

Created: 25 Feb 2020, 12:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 MIM#612937
OMIM
605951
Clinvar variants
Variants in DPM3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: dpm3 has been classified as Green List (High Evidence).

25 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: dpm3 has been classified as Green List (High Evidence).

25 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: DPM3 was added gene: DPM3 was added to Limb Girdle Muscular Dystrophy. Sources: Expert Review Mode of inheritance for gene: DPM3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPM3 were set to 19576565; 28803818; 31266720 Phenotypes for gene: DPM3 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 MIM#612937 Review for gene: DPM3 was set to GREEN