Limb girdle muscular dystrophy

Gene: CAPN3

Green List (high evidence)

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

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Listed as associated with Limb Girdle Muscular Dystrophy by Gene Advisor (June 2016), Steve Abbs
Created: 27 Jul 2016, 8:20 a.m.

Details

Mode of Inheritance
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, type 2A, 253600
  • Limb-Girdle Muscular Dystrophy, Recessive
  • Limb-girdle muscular dystrophy
OMIM
114240
Clinvar variants
Variants in CAPN3
Penetrance
Complete
Publications
  • http://www.ncbi.nlm.nih.gov/books/NBK1408/
Panels with this gene

History Filter Activity

27 Jul 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.

27 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

27 May 2016, Gel status: 3

Set publications

Ellen Thomas (Genomics England Curator)

Publications for CAPN3 were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/

12 Aug 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

CAPN3 was added to Limb girdle muscular dystrophypanel. Sources: Eligibility statement prior genetic testing

28 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CAPN3 was changed to BIALLELIC, autosomal or pseudoautosomal

28 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

CAPN3 was added to Limb girdle muscular dystrophypanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,,Illumina TruGenome Clinical Sequencing Services

28 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CAPN3 was changed to BIALLELIC, autosomal or pseudoautosomal

28 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

CAPN3 was added to Limb girdle muscular dystrophypanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,,Illumina TruGenome Clinical Sequencing Services

28 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CAPN3 was changed to BIALLELIC, autosomal or pseudoautosomal

28 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

CAPN3 was added to Limb girdle muscular dystrophypanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,,Illumina TruGenome Clinical Sequencing Services

28 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CAPN3 was added to Limb girdle muscular dystrophypanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,,Illumina TruGenome Clinical Sequencing Services