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Congenital muscular dystrophy v3.71 PLEC Arina Puzriakova Source was removed from PLEC.
Congenital muscular dystrophy v2.28 PLEC Arina Puzriakova Phenotypes for gene: PLEC were changed from Muscular dystrophy with epidermolysis bullosa simplex, 226670; Muscular dystrophy, limb-girdle autosomal recessive 17, 613723; Epidermolysis bullosa simplex with muscular dystrophy, 226670 to Muscular dystrophy, limb-girdle, autosomal recessive 17, OMIM:613723; Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670
Congenital muscular dystrophy v1.68 PLEC Louise Daugherty Classified gene: PLEC as Green List (high evidence)
Congenital muscular dystrophy v1.68 PLEC 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.
Congenital muscular dystrophy v1.68 PLEC Louise Daugherty Gene: plec has been classified as Green List (High Evidence).
Congenital muscular dystrophy v1.67 PLEC 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.
Congenital muscular dystrophy v1.67 PLEC Louise Daugherty Deleted their comment
Congenital muscular dystrophy v1.67 PLEC 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.
Congenital muscular dystrophy v1.67 PLEC 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.
Congenital muscular dystrophy v1.67 PLEC 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.
Congenital muscular dystrophy v1.67 PLEC Louise Daugherty Classified gene: PLEC as Amber List (moderate evidence)
Congenital muscular dystrophy v1.67 PLEC Louise Daugherty Gene: plec has been classified as Amber List (Moderate Evidence).
Congenital muscular dystrophy v1.66 PLEC 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.
Congenital muscular dystrophy v1.66 PLEC Louise Daugherty Deleted their comment
Congenital muscular dystrophy v1.66 PLEC Louise Daugherty Added comment: Comment on publications: added further publications to support the Green rating
Congenital muscular dystrophy v1.66 PLEC Louise Daugherty Publications for gene: PLEC were set to 21109228
Congenital muscular dystrophy v1.65 PLEC Louise Daugherty Deleted their comment
Congenital muscular dystrophy v1.65 PLEC 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.
Congenital muscular dystrophy v1.45 PLEC Louise Daugherty Mode of inheritance for gene: PLEC was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v1.43 PLEC Louise Daugherty reviewed gene: PLEC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.37 PLEC 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
Congenital muscular dystrophy v1.36 PLEC Louise Daugherty Publications for gene: PLEC were set to
Congenital muscular dystrophy v1.24 PLEC Rachael Mein reviewed gene: PLEC: Rating: GREEN; Mode of pathogenicity: ; Publications: 21109228; Phenotypes: Muscular dystrophy, limb-girdle autosomal recessive 17, 613723, Epidermolysis bullosa simplex with muscular dystrophy, 226670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.23 PLEC Louise Daugherty Source NHS GMS was added to PLEC.
Congenital muscular dystrophy v1.22 PLEC Louise Daugherty Source London South GLH was added to PLEC.
Congenital muscular dystrophy PLEC Ellen McDonagh classified PLEC as red
Congenital muscular dystrophy PLEC Ellen McDonagh commented on PLEC
Congenital muscular dystrophy PLEC Emma Clement reviewed PLEC