Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Appropriate phenotypes, sufficient cases, and external review comment all support gene-disease association.
Louise Daugherty changed review comment from: Added publication to support second report on plectin‑associated Limb-girdle muscular dystrophy 2Q without other symptoms, although the genotype identified was novel- Provisional rated Amber pending further cases or expert opinion.; to: Added publications to support green rating. PMID: 28447722 second report on plectin associated Limb-girdle muscular dystrophy 2Q without other symptoms, although the genotype identified was novel. From PMID: 20624679: report a boy presenting from birth with features of a congenital muscular dystrophy and late-onset myasthenic symptoms.
Louise Daugherty changed review comment from: From PMID: 20624679: report a boy presenting from birth with features of a congenital muscular dystrophy and late-onset myasthenic symptoms.; to: From PMID: 20624679: report a boy presenting from birth with features of a congenital muscular dystrophy and late-onset myasthenic symptoms.
Louise Daugherty commented on gene: PLEC: From PMID: 20624679: report a boy presenting from birth with features of a congenital muscular dystrophy and late-onset myasthenic symptoms.
Louise Daugherty changed review comment from: Added publication to support second report on plectin‑associated Limb-girdle muscular dystrophy 2Q without other symptoms, although the genotype identified was novel- Provisional rated Amber pending further cases or expert opinion.; to: Added publication to support second report on plectin‑associated Limb-girdle muscular dystrophy 2Q without other symptoms, although the genotype identified was novel- Provisional rated Amber pending further cases or expert opinion.
Louise Daugherty commented on gene: PLEC: Added publication to support second report on plectin‑associated Limb-girdle muscular dystrophy 2Q without other symptoms, although the genotype identified was novel- Provisional rated Amber pending further cases or expert opinion.
Louise Daugherty commented on gene: PLEC: Only one case reported with variants in this gene and CMD, provisionally rated Red pending further cases or expert opinion.
Louise Daugherty Phenotypes for gene: PLEC were changed from Muscular dystrophy with epidermolysis bullosa simplex, 226670 to Muscular dystrophy with epidermolysis bullosa simplex, 226670; Muscular dystrophy, limb-girdle autosomal recessive 17, 613723; Epidermolysis bullosa simplex with muscular dystrophy, 226670