Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: DPM3EnsemblGeneIds (GRCh38): ENSG00000179085
EnsemblGeneIds (GRCh37): ENSG00000179085
OMIM: 605951, Gene2Phenotype
DPM3 is in 11 panels
6 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber.
The comment from the GMS reviewers is as follows:
Over the past 3 years, (when we were looking at a slightly larger gene panel (essentially R82 plus 20 genes)) we have screened more than 1000 patients on R82 and for DPM3 have not identified any clinically significant variants.Created: 5 Dec 2024, 5:12 p.m. | Last Modified: 5 Dec 2024, 5:26 p.m.
Panel Version: 4.40
Sarah Leigh (Genomics England Curator)
Associated with relevant phenotype in OMIM and as strong Gen2Phen gene. At least four variants have been reported in at least five cases, together with supportive functional studies (PMID: 19576565; 31469168).Created: 15 Dec 2022, 2:51 p.m. | Last Modified: 15 Dec 2022, 2:51 p.m.
Panel Version: 3.3
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 15 Dec 2022, 2 p.m. | Last Modified: 15 Dec 2022, 2 p.m.
Panel Version: 3.3
Zornitza Stark (Australian Genomics)
>3 cases with limb girdle muscular dystrophy, adult onset reported.Created: 1 Jul 2020, 7:54 a.m. | Last Modified: 1 Jul 2020, 7:54 a.m.
Panel Version: 2.6
Phenotypes
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 MIM#612937
Publications
Variants in this GENE are reported as part of current diagnostic practice
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)
MDDGC15. Rare form of muscular dystrophy with high CKCreated: 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
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, OMIM:612937
- DPM3-congenital disorder of glycosylation, MONDO:0013049
- ?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, OMIM:618992
- muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15, MONDO:0033556
- OMIM
- 605951
- Clinvar variants
- Variants in DPM3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Fetal anomalies
- Undiagnosed metabolic disorders
- Skeletal dysplasia
- Congenital muscular dystrophy
- Congenital disorders of glycosylation
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- DDG2P
- Intellectual disability
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Arthrogryposis
History Filter Activity
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q4_22_promote_green was removed from gene: DPM3.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: DPM3 were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937; limb-girdle muscular dystrophy; dystroglycanopathy to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, OMIM:612937; DPM3-congenital disorder of glycosylation, MONDO:0013049; ?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, OMIM:618992; muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15, MONDO:0033556
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q4_22_promote_green tag was added to gene: DPM3.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: dpm3 has been classified as Amber List (Moderate Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: DPM3 were set to 28803818; 19576565
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: dpm3 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: dpm3 has been classified as Amber List (Moderate Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to DPM3.
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to DPM3.
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
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
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