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Mendeliome

Gene: CAPN3

Green List (high evidence)

CAPN3 (calpain 3)
EnsemblGeneIds (GRCh38): ENSG00000092529
EnsemblGeneIds (GRCh37): ENSG00000092529
OMIM: 114240, Gene2Phenotype
CAPN3 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID: 31937337 - 15 families with limb girdle muscular dystrophy. 13/15 report childhood onset in multiple affected children, where EMG confirmed a myopathic disorder, with mild-severe dystrophic changes. Note recurrent 21bp deletion associated with dominant LGMD.

There are emerging reports in recent literature of heterozygous variants segregating with disease in families, including at least 6 missense and 2 small in-frame deletions (PMID: 32557990). These variants are associated with a milder calpainopathy phenotype than patients with recessive LoF variants, and some carriers only present with isolated hyperCKaemia. In general, the AD variants have been associated with milder and later-onset phenotypes (PMID: 32342993).
Created: 9 Oct 2020, 8:16 a.m. | Last Modified: 9 Oct 2020, 8:16 a.m.
Panel Version: 0.4850

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, limb-girdle, autosomal dominant 4, MIM# 618129; Muscular dystrophy, limb-girdle, autosomal recessive 1, MIM# 253600

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal dominant 4, MIM# 618129
  • Muscular dystrophy, limb-girdle, autosomal recessive 1, MIM# 253600
OMIM
114240
Clinvar variants
Variants in CAPN3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: capn3 has been classified as Green List (High Evidence).

9 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CAPN3 were changed from to Muscular dystrophy, limb-girdle, autosomal dominant 4, MIM# 618129; Muscular dystrophy, limb-girdle, autosomal recessive 1, MIM# 253600

9 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CAPN3 were set to

9 Oct 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CAPN3 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CAPN3 was added gene: CAPN3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CAPN3 was set to Unknown