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  3. DMD
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Gastrointestinal neuromuscular disease

Gene: DMD

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Can rarely present with gut dysmotility.
Sources: Expert list
Created: 31 Jul 2021, 1:42 a.m.

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

Phenotypes
Duchenne muscular dystrophy, MIM# 310200

Publications

Created: 31 Jul 2021, 1:42 a.m.

Panel version: 1.5

History Filter Activity

31 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

31 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

31 Jul 2021, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: DMD.

31 Jul 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DMD was added gene: DMD was added to Gastrointestinal neuromuscular disease. Sources: Expert list Mode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: DMD were set to 3380114 Phenotypes for gene: DMD were set to Duchenne muscular dystrophy, MIM# 310200 Review for gene: DMD was set to GREEN