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Congenital myopathy v4.22 MYH3 Achchuthan Shanmugasundram Tag Q2_23_NHS_review tag was added to gene: MYH3.
Congenital myopathy v4.22 MYH3 Achchuthan Shanmugasundram Tag Q2_23_MOI tag was added to gene: MYH3.
Congenital myopathy v4.22 MYH3 Achchuthan Shanmugasundram Phenotypes for gene: MYH3 were changed from Arthrogryposis, distal, type 2A (Freeman-Sheldon), OMIM:193700; Arthrogryposis, distal, type 2B3 (Sheldon-Hall), OMIM:618436 to Arthrogryposis, distal, type 2A (Freeman-Sheldon), OMIM:193700; Arthrogryposis, distal, type 2B3 (Sheldon-Hall), OMIM:618436; Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A, OMIM:178110; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B, OMIM:618469
Congenital myopathy v4.21 MYH3 Achchuthan Shanmugasundram Publications for gene: MYH3 were set to 18695058; 26578207; 29805041; 32902138
Congenital myopathy v4.21 MYH3 Achchuthan Shanmugasundram Publications for gene: MYH3 were set to 18695058; 26578207
Congenital myopathy v4.20 MYH3 Achchuthan Shanmugasundram Mode of inheritance for gene: MYH3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital myopathy v4.19 MYH3 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: As reviewed by Anna Sarkozy, there is sufficient evidence for updating the MOI of this gene from "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown" to "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" in the next major review.
Congenital myopathy v4.19 MYH3 Achchuthan Shanmugasundram Mode of inheritance for gene: MYH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myopathy v4.18 MYH3 Achchuthan Shanmugasundram reviewed gene: MYH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29805041, 32902138; Phenotypes: Arthrogryposis, distal, type 2A (Freeman-Sheldon), OMIM:193700, Arthrogryposis, distal, type 2B3 (Sheldon-Hall), OMIM:618436, Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A, OMIM:178110, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B, OMIM:618469; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myopathy v4.2 MYH3 Anna Sarkozy edited their review of gene: MYH3: Added comment: Recessive MYH3 variants reported in patients with multiple pterygia and this disease entity is designated as "Contractures, pterygia, and variable skeletal fusions syndrome 1B," in OMIM.; Changed publications to: 18695058, 26578207, 32902138; Changed phenotypes to: Arthrogryposis, distal, type 2A 193700, Arthrogryposis, distal, type 2B 601680, Arthrogryposis, distal, type 8 178110, ontractures, pterygia, and variable skeletal fusions syndrome 1B; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v3.71 MYH3 Arina Puzriakova Phenotypes for gene: MYH3 were changed from Arthrogryposis, distal, type 2A 193700; Arthrogryposis, distal, type 2B 601680; Arthrogryposis, distal, type 8 178110 to Arthrogryposis, distal, type 2A (Freeman-Sheldon), OMIM:193700; Arthrogryposis, distal, type 2B3 (Sheldon-Hall), OMIM:618436
Congenital myopathy v1.120 MYH3 Rachael Mein edited their review of gene: MYH3: Changed publications: 18695058, 26578207; Changed phenotypes: Arthrogryposis, distal, type 2A 193700, Arthrogryposis, distal, type 2B 601680, Arthrogryposis, distal, type 8 178110
Congenital myopathy v1.76 MYH3 Louise Daugherty reviewed gene: MYH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.75 MYH3 Rachael Mein reviewed gene: MYH3: Rating: GREEN; Mode of pathogenicity: ; Publications: 20045868; Phenotypes: Arthrogryposis, distal, type 1B, 614335, Lethal congenital contracture syndrome 4, 614915; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Congenital myopathy v1.74 MYH3 Louise Daugherty Source NHS GMS was added to MYH3.
Congenital myopathy v1.73 MYH3 Louise Daugherty Source London South GLH was added to MYH3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy MYH3 Anna Sarkozy reviewed MYH3
Congenital myopathy MYH3 Helen Brittain marked MYH3 as ready
Congenital myopathy MYH3 Helen Brittain classified MYH3 as green
Congenital myopathy MYH3 Helen Brittain marked MYH3 as ready
Congenital myopathy MYH3 Helen Brittain classified MYH3 as red
Congenital myopathy MYH3 Helen Brittain reviewed MYH3