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Glaucoma (developmental) v1.42 DDX58 Eleanor Williams commented on gene: DDX58
Glaucoma (developmental) v1.42 DDX58 Eleanor Williams Tag new-gene-name tag was added to gene: DDX58.
Glaucoma (developmental) v1.12 DDX58 Arina Puzriakova Publications for gene: DDX58 were set to 2509; 3588; 25620203
Glaucoma (developmental) v1.11 DDX58 Arina Puzriakova Classified gene: DDX58 as Green List (high evidence)
Glaucoma (developmental) v1.11 DDX58 Arina Puzriakova Added comment: Comment on list classification: At least 4 gain-of-function variants identified in 5 unrelated families with Singleton-Merten syndrome 2, including glaucoma in all affected individuals (PMIDs: 25620203; 30574673; 33495304). Therefore, this now reaches threshold for a rating upgrade from Amber to Green.
Glaucoma (developmental) v1.11 DDX58 Arina Puzriakova Gene: ddx58 has been classified as Green List (High Evidence).
Glaucoma (developmental) v1.10 DDX58 Arina Puzriakova reviewed gene: DDX58: Rating: GREEN; Mode of pathogenicity: None; Publications: 25620203, 30574673, 33495304; Phenotypes: Singleton-Merten syndrome 2, OMIM:616298, Singleton-Merten syndrome 2, MONDO:0014575; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Glaucoma (developmental) v1.10 DDX58 Arina Puzriakova Phenotypes for gene: DDX58 were changed from Atypical Singleton-Merton syndrome (AD) - glaucoma and skeletal abnormalities. to Singleton-Merten syndrome 2, OMIM:616298; Singleton-Merten syndrome 2, MONDO:0014575
Glaucoma (developmental) DDX58 Ellen McDonagh marked DDX58 as ready
Glaucoma (developmental) DDX58 Ellen McDonagh classified DDX58 as amber
Glaucoma (developmental) DDX58 Ellen McDonagh classified DDX58 as amber
Glaucoma (developmental) DDX58 Ellen McDonagh classified DDX58 as amber
Glaucoma (developmental) DDX58 Ellen McDonagh commented on DDX58
Glaucoma (developmental) DDX58 Ellen McDonagh classified DDX58 as amber
Glaucoma (developmental) DDX58 Chris Campbell reviewed DDX58