Gene Symbol:
TPM3
HGNC:12012
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
1q21.3
Filters:

Definitive classifications

TPM3-related myopathy
SD
11/03/2020
Evaluated
04/21/2024
Submitted

Strong classifications

congenital myopathy 4A, autosomal dominant
Submitted as: OMIM:255310
AD
07/06/2022
Evaluated
11/30/2023
Submitted
congenital myopathy 4B, autosomal recessive
Submitted as: OMIM:609284
AR
09/01/2021
Evaluated
11/30/2023
Submitted

Moderate classifications

congenital fiber-type disproportion myopathy
Submitted as: OMIM:255310
SD
08/31/2018
Evaluated
12/24/2020
Submitted
congenital myopathy 4B, autosomal recessive
Submitted as: OMIM:609284
SD
08/31/2018
Evaluated
12/24/2020
Submitted

Supportive classifications

congenital fiber-type disproportion myopathy
Submitted as: Orphanet:2020
AD
09/14/2021
Evaluated
09/14/2021
Submitted
intermediate nemaline myopathy
Submitted as: Orphanet:171433
AD
09/14/2021
Evaluated
09/14/2021
Submitted
childhood-onset nemaline myopathy
Submitted as: Orphanet:171439
AD
09/14/2021
Evaluated
09/14/2021
Submitted
AD
09/14/2021
Evaluated
09/14/2021
Submitted
congenital generalized hypercontractile muscle stiffness syndrome
Submitted as: Orphanet:476406
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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