Gene Symbol:
KLHL41
HGNC:16905
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
2q31.1
Filters:

Strong classifications

nemaline myopathy 9
Submitted as: OMIM:615731
AR
08/30/2019
Evaluated
11/30/2023
Submitted

Moderate classifications

nemaline myopathy 9
Submitted as: OMIM:615731
AR
08/30/2022
Evaluated
08/19/2023
Submitted
AR
11/05/2019
Evaluated
10/18/2023
Submitted

Supportive classifications

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

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