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Repeat Disorders

STR: DMD

Amber List (moderate evidence)
Chromosome: X
GRCh37 Position: 31302674-31302722
GRCh38 Position: 31284557-31284605
Repeated Sequence: GAA
Normal Number of Repeats: < 33
Pathogenic Number of Repeats: = or > 59

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Another case with BMD (patient 18) form a Japanese registry was reported with an expansion of 1381–1502 repeats in intron 62. Repeat expansion causes a splicing aberration
Created: 7 Apr 2024, 2:56 a.m. | Last Modified: 7 Apr 2024, 2:57 a.m.
Panel Version: 0.164
Single family reported with GAA repeat expansion in intron 62. Normal repeat range 11-33 in healthy controls. Expanded repeats range from 59-82 in the family, with 2 female carriers manifesting symptoms, a male foetus, 2 asymptomatic female carriers, and 2 male asymptomatic carriers ages 6 and 4 years.
Sources: Literature
Created: 4 Sep 2021, 9:13 a.m.

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

Publications

Created: 4 Sep 2021, 9:13 a.m.
Last Modified: 7 Apr 2024, 2:57 a.m.
Panel version: 0.163

Details

Name
DMD
Chromosome
X
GRCh37 Coordinates
31302674-31302722
GRCh38 Coordinates
31284557-31284605
Repeated Sequence
GAA
Normal Number of Repeats: <
33
Pathogenic Number of Repeats: = or >
59
Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Duchenne muscular dystrophy MIM#310200
  • Becker muscular dystrophy MIM#300376
Tags
adult-onset paediatric-onset
OMIM
300377
Clinvar variants
Variants in DMD
Penetrance
None
Publications

History Filter Activity

7 Apr 2024, Gel status: 2

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for STR: DMD were set to 27417533

7 Apr 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: dmd has been classified as Amber List (Moderate Evidence).

10 Sep 2021, Gel status: 1

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag adult-onset tag was added to STR: DMD. Tag paediatric-onset tag was added to STR: DMD.

4 Sep 2021, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: dmd has been classified as Red List (Low Evidence).

4 Sep 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

STR: DMD was added STR: DMD was added to Repeat Disorders. Sources: Literature Mode of inheritance for STR: DMD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for STR: DMD were set to 27417533 Phenotypes for STR: DMD were set to Duchenne muscular dystrophy MIM#310200; Becker muscular dystrophy MIM#300376 Review for STR: DMD was set to RED