Muscular dystrophy and myopathy_Paediatric
Gene: COMP
Not a common feature of MED.
Amber so as not to miss a diagnosis
PMID: 14684695
2 families only 1 with mild myopathy
Fam1: 1 father + 3 sibs, only 1 reported muscle weakness
Fam2: no muscle weakness reported
PMID: 15880723
10 families but only 1 reported mild myopathy
PMID: 20508815
additional 2 unrelated individuals from European Skeletal Dysplasia Network
Sources: LiteratureCreated: 12 Apr 2024, 5:04 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epiphyseal dysplasia, multiple, 1 MIM#132400
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: comp has been classified as Amber List (Moderate Evidence).
Gene: comp has been classified as Amber List (Moderate Evidence).
gene: COMP was added gene: COMP was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature Mode of inheritance for gene: COMP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COMP were set to 20508815; 14684695; 15880723 Phenotypes for gene: COMP were set to Epiphyseal dysplasia, multiple, 1 MIM#132400 Review for gene: COMP was set to AMBER gene: COMP was marked as current diagnostic