Muscular dystrophy and myopathy_Paediatric

Gene: CAPN3

Amber List (moderate evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

More appropriate for LGMD panel but rate Amber here to avoid missing diagnoses.
Created: 24 Jun 2020, 1:27 p.m. | Last Modified: 3 Sep 2023, 11:30 p.m.
Panel Version: 1.5

Elena Savva (Victorian Clinical Genetics Services)

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.
Sources: Literature
Created: 24 Jun 2020, 6:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 1 253600

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 1 253600
OMIM
114240
Clinvar variants
Variants in CAPN3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Sep 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: capn3 has been classified as Amber List (Moderate Evidence).

24 Jun 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: capn3 has been classified as Red List (Low Evidence).

24 Jun 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: capn3 has been classified as Red List (Low Evidence).

24 Jun 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).

24 Jun 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

gene: CAPN3 was added gene: CAPN3 was added to Muscular dystrophy. Sources: Literature Mode of inheritance for gene: CAPN3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CAPN3 were set to PMID: 31937337 Phenotypes for gene: CAPN3 were set to Muscular dystrophy, limb-girdle, autosomal recessive 1 253600 Review for gene: CAPN3 was set to GREEN