Genomics England
GMS Panels
Panels
Genes and Entities
CAPN3
calpain 3
OMIM:
114240
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Panel
Mode of inheritance
Details
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Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Component of the following Super Panels:
- Hypotonic infant
- Other rare neuromuscular disorders
R-numbers:
R82
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 1, OMIM:253600