Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: DPM3
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
>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
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
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
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
Tag Q4_22_promote_green tag was added to gene: DPM3.
Gene: dpm3 has been classified as Amber List (Moderate Evidence).
Publications for gene: DPM3 were set to 28803818; 19576565
Gene: dpm3 has been classified as Amber List (Moderate Evidence).
Gene: dpm3 has been classified as Amber List (Moderate Evidence).
Source NHS GMS was added to DPM3.
Source Yorkshire and North East GLH was added to DPM3.
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
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
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