MYH7

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

Ambry Genetics classifications

myopathy, myosin storage, autosomal dominant
Submitted as: OMIM:608358
AD
03/31/2020
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
03/30/2020
Evaluated
03/02/2021
Submitted
hypertrophic cardiomyopathy 1
Submitted as: OMIM:192600
AD
05/19/2017
Evaluated
03/02/2021
Submitted
MYH7-related skeletal myopathy
Submitted as: OMIM:160500
AD
05/19/2017
Evaluated
03/02/2021
Submitted

ClinGen classifications

hypertrophic cardiomyopathy
AD
07/12/2023
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

Variation in the MYH7 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM... Read more

arrhythmogenic right ventricular cardiomyopathy
AD
08/06/2019
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

MYH7: Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) HGNC: 7577 http://purl.obolibrary.or... Read more

MYH7-related skeletal myopathy
AD
05/13/2021
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

MYH7 was first reported in relation to autosomal dominant myopathy including Laing distal myopath... Read more

dilated cardiomyopathy
AD
05/30/2025
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

MYH7 was originally evaluated for DCM by ClinGen DCM GCEP on November 4, 2020. Evidence of the as... Read more

congenital heart disease
AD
02/12/2024
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

MYH7 was first reported in relation to autosomal dominant congenital heart disease in 2021 (Hiron... Read more

Labcorp Genetics (formerly Invitae) classifications

myopathy, myosin storage, autosomal recessive
Submitted as: OMIM:255160
AR
05/28/2019
Evaluated
11/30/2023
Submitted
dilated cardiomyopathy 1S
Submitted as: OMIM:613426
AD
06/01/2023
Evaluated
11/30/2023
Submitted
MYH7-related skeletal myopathy
Submitted as: OMIM:160500
AD
01/13/2022
Evaluated
11/30/2023
Submitted
hypertrophic cardiomyopathy 1
Submitted as: OMIM:192600
AD
01/27/2023
Evaluated
11/30/2023
Submitted

Orphanet 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
congenital myopathy 7A, myosin storage, autosomal dominant
Submitted as: Orphanet:437572
AD
09/14/2021
Evaluated
09/14/2021
Submitted

G2P classifications

dilated cardiomyopathy 1S
AD
03/20/2024
Evaluated
07/02/2025
Submitted
hypertrophic cardiomyopathy 1
AD
03/20/2024
Evaluated
07/02/2025
Submitted

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