Rhabdomyolysis and Metabolic Myopathy

Gene: DMD

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

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

• 20301298

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

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

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)