Congenital muscular dystrophy

Gene: DPM3

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 26 Sep 2024, 1:47 p.m. | Last Modified: 26 Sep 2024, 1:47 p.m.

Panel Version: 4.28

A green rating has been recommended based on the review from Anna Sarkozy (Great Ormond Street Hospital)(10 Nov 2022) and consultation with Helen Brittain (Clinical Fellow, Genomics England).

Created: 10 Jan 2023, 10:36 a.m. | Last Modified: 10 Jan 2023, 10:36 a.m.

Panel Version: 3.19

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.

Created: 10 Jan 2023, 10:34 a.m. | Last Modified: 10 Jan 2023, 10:34 a.m.

Panel Version: 3.19

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Green List (high evidence)

this gene was previously part of the diagnostic panel. multiple reports of patients presenting with a phenotype caractherised by skeletal and CNS involvement, with childhood or adulthood onset muscular dystrophy, raised CK and cardiomyopathy. Deficiency of Dolichol-P-mannose synthase subunit 3 (DPM3) affects the N-glycosylation and O-mannosylation pathways that are known to be involved in congenital disorders of glycosylation (CDG) and alpha-dystroglycanopathies. in view of this, this gene meets criteria for green

Created: 10 Nov 2022, 12:18 p.m. | Last Modified: 10 Nov 2022, 12:18 p.m.

Panel Version: 2.31

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital muscular dystrophy, secondary alpha-dystroglycanopathy; limb girdle muscular dystrophy

Publications

• 19576565
• 35932216
• 33200426
• 31266720

Mode of pathogenicity
Other

The rating of this gene has been updated from Amber to Red following NHS Genomic Medicine Service approval.

Created: 29 Jul 2022, 1:47 p.m. | Last Modified: 29 Jul 2022, 1:47 p.m.

Panel Version: 2.30

Red List (low evidence)

PMID: 31469168 - 1 patient (8 years old) with normal muscle strength, elevated CK levels. Patient also had developmental delay and epilepsy, and was chet for a missense and PTC variant.

PMID: 31266720 - 2 unrelated patients with limb girdle muscular dystrophy. One had childhood onset, the other in adulthood. Both patients shared a missense (p.Leu14Pro) in trans with a deletion.

PMID: 28803818 - 1 patient with adult onset limb girdle muscular dystrophy. She was homozygous for a missense, supported by functional studies.

Summary: single report of childhood onset myopathy, not congenital.

Created: 22 Jun 2020, 10:39 a.m. | Last Modified: 22 Jun 2020, 10:39 a.m.

Panel Version: 2.4

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

Publications

• 31469168
• 31266720
• 28803818

I don't know

Only one case reported with variants in this gene and CMD, not sure it fulfils the criteria to be a green gene. Provisional rated Amber pending further cases or expert opinion.

Created: 14 Oct 2019, 2:02 p.m. | Last Modified: 14 Oct 2019, 2:02 p.m.

Panel Version: 1.65

Initial gene list (Congenital Muscular Dystrophy Gene Panel 207-London South GLH.xlsx) collated by Rachael Mein, Viapath Guy's Hospital February 2019 on behalf of London South GLH for the GMS Neurology specialist test group.

Created: 29 Apr 2019, 3:37 p.m.

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital muscular dystrophies; Congenital disorder of glycosylation, type Io 612937

Publications

• 19576565

Variants in this GENE are reported as part of current diagnostic practice

I don't know

see comments from DPM1 (same apply)

Created: 26 Jan 2017, 3:24 p.m.

Comment on list classification: Keep as amber as not yet enough evidence to be green.

Created: 27 Jan 2017, 1:50 p.m.

Comment on list classification: Probable DD gene for CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1O. One patient reported in PMID:19576565.

Created: 25 Jan 2017, 11:45 a.m.

I don't know

1 report in literature (lefeber 2009)

Created: 19 Dec 2016, 11:47 a.m.

Phenotypes
congenital muscular dystrophies