Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Intellectual disability syndromic and non-syndromic v0.1503 MYH3 Zornitza Stark Marked gene: MYH3 as ready
Intellectual disability syndromic and non-syndromic v0.1503 MYH3 Zornitza Stark Gene: myh3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.458 MYH3 Chirag Patel Classified gene: MYH3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.458 MYH3 Chirag Patel Gene: myh3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.457 MYH3 Chirag Patel Source Genetic Health Queensland was removed from MYH3.
Source Expert list was added to MYH3.
Mode of inheritance for gene MYH3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MYH3 were changed from to Arthrogryposis, distal, type 2A (Freeman-Sheldon), OMIM #193700; Arthrogryposis, distal, type 2B3 (Sheldon-Hall), OMIM #618436; Contractures, pterygia, and variable skeletal fusions syndrome 1A, OMIM #178110; Contractures, pterygia, and variable skeletal fusions syndrome 1B, OMIM #618469
Intellectual disability syndromic and non-syndromic v0.456 MYH3 Chirag Patel reviewed gene: MYH3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis, distal, type 2A (Freeman-Sheldon), OMIM #193700, Arthrogryposis, distal, type 2B3 (Sheldon-Hall), OMIM #618436, Contractures, pterygia, and variable skeletal fusions syndrome 1A, OMIM #178110, Contractures, pterygia, and variable skeletal fusions syndrome 1B, OMIM #618469; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 MYH3 Zornitza Stark gene: MYH3 was added
gene: MYH3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: MYH3 was set to Unknown