Gene Symbol:
MYH7
HGNC:7577
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
14q11.2
Filters:

Definitive classifications

MYH7-related skeletal myopathy
AD
05/13/2021
Evaluated
08/16/2021
Submitted
hypertrophic cardiomyopathy 1
Submitted as: OMIM:192600
AD
05/19/2017
Evaluated
03/02/2021
Submitted
dilated cardiomyopathy
AD
11/13/2020
Evaluated
08/16/2021
Submitted
hypertrophic cardiomyopathy
AD
03/16/2021
Evaluated
08/16/2021
Submitted

Strong classifications

hypertrophic cardiomyopathy 1
Submitted as: OMIM:192600
AD
08/06/2020
Evaluated
11/06/2020
Submitted
MYH7-related skeletal myopathy
Submitted as: OMIM:160500
AD
05/19/2017
Evaluated
03/02/2021
Submitted
dilated cardiomyopathy 1S
Submitted as: OMIM:613426
AD
03/31/2020
Evaluated
03/02/2021
Submitted
myopathy, myosin storage, autosomal recessive
Submitted as: OMIM:255160
AR
02/22/2021
Evaluated
02/03/2022
Submitted

Moderate classifications

myopathy, myosin storage, autosomal recessive
Submitted as: OMIM:255160
AR
03/30/2020
Evaluated
03/02/2021
Submitted
myopathy, myosin storage, autosomal dominant
Submitted as: OMIM:608358
AD
03/31/2020
Evaluated
03/02/2021
Submitted

Supportive classifications

Ebstein anomaly
Submitted as: Orphanet:1880
AD
09/14/2021
Evaluated
09/14/2021
Submitted
familial isolated dilated cardiomyopathy
Submitted as: Orphanet:154
AD
09/14/2021
Evaluated
09/14/2021
Submitted
hyaline body myopathy
Submitted as: Orphanet:53698
AD
09/14/2021
Evaluated
09/14/2021
Submitted
left ventricular noncompaction
Submitted as: Orphanet:54260
AD
09/14/2021
Evaluated
09/14/2021
Submitted
MYH7-related skeletal myopathy
Submitted as: Orphanet:59135
AD
09/14/2021
Evaluated
09/14/2021
Submitted
MYH7-related late-onset scapuloperoneal muscular dystrophy
Submitted as: Orphanet:437572
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

arrhythmogenic right ventricular cardiomyopathy
AD
08/06/2019
Evaluated
08/16/2021
Submitted

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