Muscular dystrophy and myopathy_Paediatric
Gene: CAPN3
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
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
Gene: capn3 has been classified as Amber List (Moderate Evidence).
Gene: capn3 has been classified as Red List (Low Evidence).
Gene: capn3 has been classified as Red List (Low Evidence).
Gene: capn3 has been classified as Green List (High Evidence).
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