Limb girdle muscular dystrophy

Gene: DPM3

Amber List (moderate evidence)

DPM3 (dolichyl-phosphate mannosyltransferase subunit 3)
EnsemblGeneIds (GRCh38): ENSG00000179085
EnsemblGeneIds (GRCh37): ENSG00000179085
OMIM: 605951, Gene2Phenotype
DPM3 is in 12 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from Red to Amber based on the review and comments from Chiara Marini Bettolo (NUTH).
Created: 28 Nov 2019, 5:02 p.m. | Last Modified: 28 Nov 2019, 5:02 p.m.
Panel Version: 1.152

Chiara Marini Bettolo (NUTH)

I don't know

MDDGC15. Rare form of muscular dystrophy with high CK
Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
limb-girdle muscular dystrophy; dystroglycanopathy

Publications

Ana Topf (John Walton Muscular Dystrophy Research Centre)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937
  • limb-girdle muscular dystrophy
  • dystroglycanopathy
OMIM
605951
Clinvar variants
Variants in DPM3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: dpm3 has been classified as Amber List (Moderate Evidence).

28 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: dpm3 has been classified as Amber List (Moderate Evidence).

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to DPM3.

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to DPM3.

13 May 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: DPM3 were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937 to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937; limb-girdle muscular dystrophy; dystroglycanopathy

17 Apr 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene DPM3 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937 for gene: DPM3 Publications for gene DPM3 were changed from to 28803818; 19576565

17 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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