Gene Symbol:
DMD
HGNC:2928
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
Xp21.2-p21.1
Filters:

Ambry Genetics classifications

Becker muscular dystrophy
Submitted as: OMIM:300376
XL
11/09/2015
Evaluated
03/02/2021
Submitted
dilated cardiomyopathy 3B
Submitted as: OMIM:302045
XL
11/09/2015
Evaluated
03/02/2021
Submitted
Duchenne muscular dystrophy
Submitted as: OMIM:310200
XL
01/26/2018
Evaluated
03/02/2021
Submitted

ClinGen classifications

progressive muscular dystrophy
XL
04/09/2021
Evaluated
04/21/2024
Submitted

Invitae classifications

Duchenne muscular dystrophy
Submitted as: OMIM:310200
XL
05/26/2023
Evaluated
11/30/2023
Submitted

Myriad Women’s Health classifications

Duchenne and Becker muscular dystrophy
XL
07/05/2018
Evaluated
10/13/2020
Submitted

Orphanet classifications

familial isolated dilated cardiomyopathy
Submitted as: Orphanet:154
AD
09/14/2021
Evaluated
09/14/2021
Submitted
non-syndromic X-linked intellectual disability
Submitted as: Orphanet:777
XL
09/14/2021
Evaluated
09/14/2021
Submitted
Becker muscular dystrophy
Submitted as: Orphanet:98895
XL
09/14/2021
Evaluated
09/14/2021
Submitted
Duchenne muscular dystrophy
Submitted as: Orphanet:98896
XL
09/14/2021
Evaluated
09/14/2021
Submitted
symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Submitted as: Orphanet:206546
XL
09/14/2021
Evaluated
09/14/2021
Submitted

G2P classifications

Becker muscular dystrophy
Submitted as: OMIM:300376
XLR
07/22/2015
Evaluated
11/25/2020
Submitted
dilated cardiomyopathy 3B
Submitted as: OMIM:302045
XLR
07/22/2015
Evaluated
11/25/2020
Submitted
Duchenne muscular dystrophy
Submitted as: OMIM:310200
XLR
07/22/2015
Evaluated
11/25/2020
Submitted
Duchenne muscular dystrophy
Submitted as: OMIM:310200
XL
07/22/2015
Evaluated
09/11/2023
Submitted

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