Muscular dystrophy and myopathy_Paediatric
Gene: CAPN3EnsemblGeneIds (GRCh38): ENSG00000092529
EnsemblGeneIds (GRCh37): ENSG00000092529
OMIM: 114240, Gene2Phenotype
CAPN3 is in 8 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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)
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: LiteratureCreated: 24 Jun 2020, 6:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 1 253600
Publications
- PMID: 31937337
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
-
- PMID: 31937337
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: capn3 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: capn3 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: capn3 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: capn3 has been classified as Green List (High Evidence).
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