Congenital muscular dystrophy and congenital myopathy

Gene: DPM3

Green List (high evidence)

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

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

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.

Created: 2 May 2024, 3:45 p.m. | Last Modified: 2 May 2024, 3:45 p.m.

Panel Version: 0.229

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

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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