21 Nov 2022
Glaucoma (developmental) v1.42
DDX58
Eleanor Williams commented on gene: DDX58
21 Nov 2022
Glaucoma (developmental) v1.42
DDX58
Eleanor Williams Tag new-gene-name tag was added to gene: DDX58.
05 Feb 2021
Glaucoma (developmental) v1.12
DDX58
Arina Puzriakova Publications for gene: DDX58 were set to 2509; 3588; 25620203
05 Feb 2021
Glaucoma (developmental) v1.11
DDX58
Arina Puzriakova Classified gene: DDX58 as Green List (high evidence)
05 Feb 2021
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.
05 Feb 2021
Glaucoma (developmental) v1.11
DDX58
Arina Puzriakova Gene: ddx58 has been classified as Green List (High Evidence).
05 Feb 2021
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
04 Feb 2021
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
26 Apr 2017
Glaucoma (developmental)
DDX58
Ellen McDonagh marked DDX58 as ready
26 Apr 2017
Glaucoma (developmental)
DDX58
Ellen McDonagh classified DDX58 as amber
12 Apr 2017
Glaucoma (developmental)
DDX58
Ellen McDonagh classified DDX58 as amber
12 Apr 2017
Glaucoma (developmental)
DDX58
Ellen McDonagh classified DDX58 as amber
12 Apr 2017
Glaucoma (developmental)
DDX58
Ellen McDonagh commented on DDX58
12 Apr 2017
Glaucoma (developmental)
DDX58
Ellen McDonagh classified DDX58 as amber
17 Mar 2017
Glaucoma (developmental)
DDX58
Chris Campbell reviewed DDX58