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| Muscular dystrophy and myopathy_Paediatric v0.39 | PLEC | Zornitza Stark reviewed gene: PLEC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.39 | PLEC | Zornitza Stark Marked gene: PLEC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.39 | PLEC | Zornitza Stark Gene: plec has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.39 | PLEC | Zornitza Stark Classified gene: PLEC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.39 | PLEC | Zornitza Stark Gene: plec has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.27 | PLEC |
Crystle Lee gene: PLEC was added gene: PLEC was added to Muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: PLEC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLEC were set to 20624679; 21109228; 28824526 Phenotypes for gene: PLEC were set to Muscular dystrophy, limb-girdle, autosomal recessive 17 (MIM#613723) Added comment: Onset in early childhood (OMIM). PMID: 20624679: Reported 1 patient with congenital muscular dystrophy, hypotonia and elevated CK. PMID: 21109228: Same homozygous variant affecting isoform 1f reported in 3 families. 2 affected members of one family reported as having early onset LMGD. Authors note that PLEC is usually associated with late-onset progressive muscle dystrophy. PMID: 28824526: 1 patient reported with early childhood onset. Variant affects isoform 1f. Rated GREEN in CMD (PanelApp UK) Sources: Expert Review |
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