Gene Symbol:
CAPN3
HGNC:1480
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
15q15.1
Filters:

Definitive classifications

autosomal recessive limb-girdle muscular dystrophy type 2A
AR
06/08/2018
Evaluated
10/13/2020
Submitted
autosomal recessive limb-girdle muscular dystrophy
AR
06/19/2023
Evaluated
10/18/2023
Submitted

Strong classifications

autosomal recessive limb-girdle muscular dystrophy type 2A
Submitted as: OMIM:253600
AR
04/02/2023
Evaluated
11/30/2023
Submitted
muscular dystrophy, limb-girdle, autosomal dominant 4
Submitted as: OMIM:618129
AD
01/17/2022
Evaluated
11/30/2023
Submitted

Moderate classifications

muscular dystrophy, limb-girdle, autosomal dominant 4
Submitted as: OMIM:618129
AD
07/13/2022
Evaluated
08/19/2023
Submitted

Supportive classifications

autosomal recessive limb-girdle muscular dystrophy type 2A
Submitted as: Orphanet:267
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

muscular dystrophy, limb-girdle, autosomal dominant
AD
06/19/2023
Evaluated
10/18/2023
Submitted

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