Gene Symbol:
TPM2
HGNC:12011
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
9p13.3
Filters:

Definitive classifications

TPM2-related myopathy
AD
01/04/2021
Evaluated
04/21/2024
Submitted

Strong classifications

arthrogryposis, distal, type 1A
Submitted as: OMIM:108120
AD
01/03/2016
Evaluated
09/11/2023
Submitted
arthrogryposis, distal, type 1A
Submitted as: OMIM:108120
AD
04/09/2020
Evaluated
11/30/2023
Submitted
congenital myopathy 23
Submitted as: OMIM:609285
AD
09/01/2021
Evaluated
11/30/2023
Submitted

Supportive classifications

digitotalar dysmorphism
Submitted as: Orphanet:1146
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Sheldon-hall syndrome
Submitted as: Orphanet:1147
AD
09/14/2021
Evaluated
09/14/2021
Submitted
congenital fiber-type disproportion myopathy
Submitted as: Orphanet:2020
AD
09/14/2021
Evaluated
09/14/2021
Submitted
typical nemaline myopathy
Submitted as: Orphanet:171436
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

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