Activity

Filter

Cancel
Date Panel Item Activity
10 actions
Severe Paediatric Disorders v0.12 MYH3 Louise Daugherty reviewed gene: MYH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 MYH3 Louise Daugherty Publications for gene MYH3 were updated from to 30847515
Severe Paediatric Disorders v0.11 MYH3 Louise Daugherty Mode of inheritance for gene MYH3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.10 MYH3 Louise Daugherty Added phenotypes Contractures, pterygia, and variable skeletal fusions syndrome 1B, 618469; Arthrogryposis, distal, type 2B3 (Sheldon-Hall), 618436; Arthrogryposis, distal, type 2A (Freeman-Sheldon), 193700; Contractures, pterygia, and variable skeletal fusions syndrome 1A, 178110 for gene: MYH3
Severe Paediatric Disorders v0.9 MYH3 Louise Daugherty Added phenotypes Contractures, pterygia, and variable skeletal fusions syndrome 1B, 618469; Arthrogryposis, distal, type 2B3 (Sheldon-Hall), 618436; Arthrogryposis, distal, type 2A (Freeman-Sheldon), 193700; Contractures, pterygia, and variable skeletal fusions syndrome 1A, 178110 for gene: MYH3
Severe Paediatric Disorders v0.9 MYH3 Louise Daugherty Added phenotypes Contractures, pterygia, and variable skeletal fusions syndrome 1B, 618469; Arthrogryposis, distal, type 2B3 (Sheldon-Hall), 618436; Arthrogryposis, distal, type 2A (Freeman-Sheldon), 193700; Contractures, pterygia, and variable skeletal fusions syndrome 1A, 178110 for gene: MYH3
Severe Paediatric Disorders v0.8 MYH3 Louise Daugherty Added phenotypes Contractures, pterygia, and variable skeletal fusions syndrome 1A, 178110; Contractures, pterygia, and variable skeletal fusions syndrome 1B, 618469; Arthrogryposis, distal, type 2A (Freeman-Sheldon), 193700; Arthrogryposis, distal, type 2B3 (Sheldon-Hall), 618436 for gene: MYH3
Severe Paediatric Disorders v0.7 MYH3 Louise Daugherty Source Next Generation Children Project was added to MYH3.
Severe Paediatric Disorders v0.5 MYH3 Louise Daugherty Source Expert Review Green was added to MYH3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 MYH3 Louise Daugherty gene: MYH3 was added
gene: MYH3 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: MYH3 was set to