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Congenital myopathy v3.72 MYL1 Arina Puzriakova Phenotypes for gene: MYL1 were changed from Myopathy, congenital, with fast-twitch (type II) fiber atrophy, OMIM:618414; Congenital myopathy with reduced type 2 muscle fibers, MONDO:0034109 to Myopathy, congenital, with fast-twitch (type II) fiber atrophy, OMIM:618414
Congenital myopathy v2.26 MYL1 Arina Puzriakova Phenotypes for gene: MYL1 were changed from congenital myopathy; Myopathy, congenital, with fast-twitch (type II) fiber atrophy, 618414 to Myopathy, congenital, with fast-twitch (type II) fiber atrophy, OMIM:618414; Congenital myopathy with reduced type 2 muscle fibers, MONDO:0034109
Congenital myopathy v1.182 MYL1 Louise Daugherty edited their review of gene: MYL1: Changed rating: GREEN
Congenital myopathy v1.177 MYL1 Louise Daugherty Classified gene: MYL1 as Green List (high evidence)
Congenital myopathy v1.177 MYL1 Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. New evidence PMID: 30215711 (2018) In 2 unrelated patients, each born of consanguineous Turkish parents, with congenital myopathy with fast-twitch (type II) fiber atrophy. Also a Zebrafish model indicated that myl1 is required for the normal formation and maintenance of myofibers.
Congenital myopathy v1.177 MYL1 Louise Daugherty Gene: myl1 has been classified as Green List (High Evidence).
Congenital myopathy v1.176 MYL1 Louise Daugherty Publications for gene: MYL1 were set to 21063730
Congenital myopathy v1.175 MYL1 Louise Daugherty Phenotypes for gene: MYL1 were changed from congenital myopathy to congenital myopathy; Myopathy, congenital, with fast-twitch (type II) fiber atrophy, 618414
Congenital myopathy v1.120 MYL1 Rachael Mein edited their review of gene: MYL1: Changed publications: 21063730; Changed phenotypes: congenital myopathy
Congenital myopathy v1.76 MYL1 Louise Daugherty reviewed gene: MYL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.75 MYL1 Rachael Mein reviewed gene: MYL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18695058, 26578207; Phenotypes: Arthrogryposis, distal, type 2A, 193700, Arthrogryposis, distal, type 2B, 601680, Arthrogryposis, distal, type 8, 178110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.74 MYL1 Louise Daugherty Source NHS GMS was added to MYL1.
Congenital myopathy v1.73 MYL1 Louise Daugherty Source London South GLH was added to MYL1.
Congenital myopathy MYL1 Helen Brittain marked MYL1 as ready
Congenital myopathy MYL1 Helen Brittain classified MYL1 as amber
Congenital myopathy MYL1 Helen Brittain commented on MYL1
Congenital myopathy MYL1 Anna Sarkozy reviewed MYL1