Gene Symbol:
DYSF
HGNC:3097
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
2p13.2
Filters:

Definitive classifications

qualitative or quantitative defects of dysferlin
AR
08/20/2018
Evaluated
10/13/2020
Submitted
autosomal recessive limb-girdle muscular dystrophy
AR
05/01/2020
Evaluated
10/18/2023
Submitted

Strong classifications

distal myopathy with anterior tibial onset
Submitted as: OMIM:606768
AR
11/23/2020
Evaluated
11/30/2023
Submitted
autosomal recessive limb-girdle muscular dystrophy type 2B
Submitted as: OMIM:253601
AR
04/29/2021
Evaluated
11/30/2023
Submitted

Supportive classifications

autosomal recessive limb-girdle muscular dystrophy type 2B
Submitted as: Orphanet:268
AR
09/14/2021
Evaluated
09/14/2021
Submitted
Miyoshi myopathy
Submitted as: Orphanet:45448
AR
09/14/2021
Evaluated
09/14/2021
Submitted
congenital myopathy, Paradas type
Submitted as: Orphanet:199329
AR
09/14/2021
Evaluated
09/14/2021
Submitted

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