Rhabdomyolysis and Metabolic Myopathy

Gene: DMD

Green List (high evidence)

DMD (dystrophin)
EnsemblGeneIds (GRCh38): ENSG00000198947
EnsemblGeneIds (GRCh37): ENSG00000198947
OMIM: 300377, Gene2Phenotype
DMD is in 16 panels

4 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: The phenotype spectrum includes asymptomatic increase in serum concentration of creatine phosphokinase (CK) and muscle cramps with myoglobinuria.
Created: 14 Apr 2023, 9:27 a.m. | Last Modified: 14 Apr 2023, 9:27 a.m.
Panel Version: 0.123

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

GeneReviews PMID:20301298

Very well-established gene disease association.

Out of frame deletions/duplications - DMD
In frame - BMD and XLDCM
Created: 9 May 2022, 1:55 a.m. | Last Modified: 9 May 2022, 1:55 a.m.
Panel Version: 0.13952

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Becker muscular dystrophy MIM@300376 XLR; Cardiomyopathy, dilated, 3B MIM#302045 XL; Duchenne muscular dystrophy MIM#310200

Publications

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Comment when marking as ready: Please note common deletion.
Created: 12 Jun 2020, 10:26 a.m. | Last Modified: 12 Jun 2020, 10:26 a.m.
Panel Version: 0.158
Well established muscular dystrophy gene.
Created: 12 Jun 2020, 10:26 a.m. | Last Modified: 12 Jun 2020, 10:26 a.m.
Panel Version: 0.158

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Duchenne muscular dystrophy, MIM# 310200

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Very well-established gene disease association.

Out of frame deletions/duplications - DMD
In frame - BMD and XLDCM
Created: 10 Apr 2020, 6:01 a.m. | Last Modified: 10 Apr 2020, 6:01 a.m.
Panel Version: 0.6

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Duchenne muscular dystrophy (MIM#310200); Becker muscular dystrophy (MIM#300376)

History Filter Activity

14 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: dmd has been classified as Green List (High Evidence).

14 Apr 2023, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: DMD were set to

14 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: dmd has been classified as Green List (High Evidence).

14 Apr 2023, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: DMD was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

14 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: DMD was added gene: DMD was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: DMD were set to Becker muscular dystrophy 300376