Gene Symbol:
MYH2
HGNC:7572
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
17p13.1
Filters:

Definitive classifications

myopathy, proximal, and ophthalmoplegia
SD
03/09/2020
Evaluated
04/21/2024
Submitted

Strong classifications

myopathy, proximal, and ophthalmoplegia
Submitted as: OMIM:605637
SD
02/26/2018
Evaluated
03/02/2021
Submitted
myopathy, proximal, and ophthalmoplegia
Submitted as: OMIM:605637
AR
06/01/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more
myopathy, proximal, and ophthalmoplegia
Submitted as: OMIM:605637
AR
03/20/2023
Evaluated
11/30/2023
Submitted
myopathy, proximal, and ophthalmoplegia
Submitted as: OMIM:605637
AD
03/20/2023
Evaluated
11/30/2023
Submitted

Supportive classifications

hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
Submitted as: Orphanet:79091
AD
09/14/2021
Evaluated
09/14/2021
Submitted
childhood-onset autosomal recessive myopathy with external ophthalmoplegia
Submitted as: Orphanet:363677
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
Submitted as: OMIM:605637
AD
03/20/2019
Evaluated
10/27/2022
Submitted

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