Gene Symbol:
ACTA1
HGNC:129
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
1q42.13
Filters:

Definitive classifications

nemaline myopathy 3
Submitted as: OMIM:161800
SD
02/05/2018
Evaluated
12/24/2020
Submitted
congenital myopathy with excess of thin filaments
Submitted as: OMIM:161800
SD
06/22/2021
Evaluated
10/27/2022
Submitted
SD
01/13/2020
Evaluated
10/18/2023
Submitted

Strong classifications

nemaline myopathy 3
Submitted as: OMIM:161800
AR
07/22/2015
Evaluated
09/11/2023
Submitted
nemaline myopathy 3
Submitted as: OMIM:161800
AR
09/13/2022
Evaluated
11/30/2023
Submitted
congenital myopathy 2c, severe infantile, autosomal dominant
Submitted as: OMIM:620278
AD
07/03/2023
Evaluated
11/30/2023
Submitted
nemaline myopathy 3
Submitted as: OMIM:161800
AD
09/13/2022
Evaluated
11/30/2023
Submitted

Supportive classifications

congenital fiber-type disproportion myopathy
Submitted as: Orphanet:2020
AD
09/14/2021
Evaluated
09/14/2021
Submitted
zebra body myopathy
Submitted as: Orphanet:97240
Unknown
09/14/2021
Evaluated
09/14/2021
Submitted
rigid spine syndrome
Submitted as: Orphanet:97244
AR
09/14/2021
Evaluated
09/14/2021
Submitted
severe congenital nemaline myopathy
Submitted as: Orphanet:171430
AR
09/14/2021
Evaluated
09/14/2021
Submitted
intermediate nemaline myopathy
Submitted as: Orphanet:171433
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
progressive scapulohumeroperoneal distal myopathy
Submitted as: Orphanet:447977
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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