CAPN3

calpain 3
OMIM: 114240, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green CAPN3 in Other rare neuromuscular disorders Version 19.202 Latest signed off version: v19.1 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Muscular dystrophy, limb-girdle, type 2A, 253600 Limb-girdle muscular dystrophy Limb-Girdle Muscular Dystrophy, Recessive
Red CAPN3 in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 5.31 Latest signed off version: v5.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red Expert list
Green CAPN3 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.32 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Eligibility statement prior genetic testing Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 1, OMIM:253600 Muscular dystrophy, limb-girdle, autosomal dominant 4, OMIM:618129 Tags Q2_23_MOI
Green CAPN3 in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 1, 253600 Muscular dystrophy, limb-girdle, autosomal dominant 4, 618129