Muscular dystrophy and myopathy_Paediatric
Gene: DMD
GeneReviews PMID:20301298
Very well-established gene disease association.
Out of frame deletions/duplications - DMD
In frame - BMD and XLDCMCreated: 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
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
Very well-established gene disease association.
Out of frame deletions/duplications - DMD
In frame - BMD and XLDCMCreated: 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)
Gene: dmd has been classified as Green List (High Evidence).
Tag SV/CNV tag was added to gene: DMD.
Phenotypes for gene: DMD were changed from to Duchenne muscular dystrophy (MIM#310200); Becker muscular dystrophy (MIM#300376)
Mode of inheritance for gene: DMD was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
gene: DMD was added gene: DMD was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DMD was set to Unknown