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Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.11 CAPN3 Achchuthan Shanmugasundram changed review comment from: As reviewed by Dmitrijs Rots (RadboudUMC), there are at least 15 unrelated families identified with monoallelic variants (six missense variants and 2 small in-frame deletions) in CAPN3 gene reported with limb girdle muscle dystrophy (LGMD) in literature. These variants are associated with a milder LGMD phenotype than patients identified with recessive variants, and some carriers only present with isolated hyperCKaemia. In general, the autosomal dominant variants have been associated with milder and later-onset phenotypes (disease onset at young adulthood at the earliest).; to: As reviewed by Dmitrijs Rots (RadboudUMC), there are at least 15 unrelated families identified with monoallelic variants (six missense variants and 2 small in-frame deletions) in CAPN3 gene reported with limb girdle muscle dystrophy (LGMD) in literature. These variants are associated with a milder LGMD phenotype than patients identified with recessive variants, and some carriers only present with isolated hyperCKaemia. In general, the autosomal dominant variants have been associated with milder and later-onset phenotypes (disease onset at young adulthood at the earliest).

Both monoallelic and biallelic variants of this gene have been associated with relevant phenotypes in OMIM, but not in Gene2Phenotype.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.11 CAPN3 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence (~15 unrelated cases with monoallelic inheritance) for updating the MOI of this gene from 'BIALLELIC, autosomal or pseudoautosomal' to 'BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal' at the next major review.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.11 CAPN3 Achchuthan Shanmugasundram Mode of inheritance for gene: CAPN3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.10 CAPN3 Achchuthan Shanmugasundram Tag Q2_23_MOI tag was added to gene: CAPN3.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.10 CAPN3 Achchuthan Shanmugasundram Phenotypes for gene: CAPN3 were changed from Muscular dystrophy, limb-girdle, autosomal recessive 1, OMIM:253600; Muscular dystrophy, limb-girdle, autosomal dominant 4, OMIM:618129 to Muscular dystrophy, limb-girdle, autosomal recessive 1, OMIM:253600; Muscular dystrophy, limb-girdle, autosomal dominant 4, OMIM:618129
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.9 CAPN3 Achchuthan Shanmugasundram Phenotypes for gene: CAPN3 were changed from Muscular dystrophy, limb-girdle, autosomal recessive 1, OMIM:253600; Muscular dystrophy, limb-girdle, autosomal dominant 4, OMIM:618129 to Muscular dystrophy, limb-girdle, autosomal recessive 1, OMIM:253600; Muscular dystrophy, limb-girdle, autosomal dominant 4, OMIM:618129
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.9 CAPN3 Achchuthan Shanmugasundram Phenotypes for gene: CAPN3 were changed from Muscular dystrophy, limb-girdle, autosomal recessive 1, OMIM:253600 to Muscular dystrophy, limb-girdle, autosomal recessive 1, OMIM:253600; Muscular dystrophy, limb-girdle, autosomal dominant 4, OMIM:618129
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.8 CAPN3 Achchuthan Shanmugasundram Publications for gene: CAPN3 were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/; 32994280
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.7 CAPN3 Achchuthan Shanmugasundram changed review comment from: As reviewed by Dmitrijs Rots (RadboudUMC), there are at least 15 unrelated families identified with monoallelic variants (six missense variants and 2 small in-frame deletions) in CAPN3 gene reported with limb girdle muscle dystrophy (LGMD) in literature. These variants are associated with a milder LGMD phenotype than patients identified with recessive variants, and some carriers only present with isolated hyperCKaemia. In general, the autosomal dominant variants have been associated with milder and later-onset phenotypes (disease onset at young adulthood at the earliest).; to: As reviewed by Dmitrijs Rots (RadboudUMC), there are at least 15 unrelated families identified with monoallelic variants (six missense variants and 2 small in-frame deletions) in CAPN3 gene reported with limb girdle muscle dystrophy (LGMD) in literature. These variants are associated with a milder LGMD phenotype than patients identified with recessive variants, and some carriers only present with isolated hyperCKaemia. In general, the autosomal dominant variants have been associated with milder and later-onset phenotypes (disease onset at young adulthood at the earliest).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.7 CAPN3 Achchuthan Shanmugasundram reviewed gene: CAPN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28881388, 32342993, 32557990, 32896923; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 1, OMIM:253600, Muscular dystrophy, limb-girdle, autosomal dominant 4, OMIM:618129; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.32 CAPN3 Dmitrijs Rots reviewed gene: CAPN3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32896923; Phenotypes: limb girdle muscle dystrophy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.19 CAPN3 Ivone Leong Added comment: Comment on phenotypes: Previously:
Muscular dystrophy, limb-girdle, type 2A, 253600;Limb-Girdle Muscular Dystrophy, Recessive; Limb-girdle muscular dystrophy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.19 CAPN3 Ivone Leong Phenotypes for gene: CAPN3 were changed from Muscular dystrophy, limb-girdle, type 2A, 253600; Limb-Girdle Muscular Dystrophy, Recessive; Limb-girdle muscular dystrophy to Muscular dystrophy, limb-girdle, autosomal recessive 1, OMIM:253600
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.7 CAPN3 Arina Puzriakova Added comment: Comment on publications: Added publication to support association with this phenotype.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.7 CAPN3 Arina Puzriakova Publications for gene: CAPN3 were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/