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Osteogenesis imperfecta v3.5 DSPP Eleanor Williams Tag Q3_22_rating was removed from gene: DSPP.
Tag Q3_22_expert_review was removed from gene: DSPP.
Osteogenesis imperfecta v3.5 DSPP Eleanor Williams edited their review of gene: DSPP: Added comment: The rating of this gene has been updated to red following NHS Genomic Medicine Service approval.; Changed rating: RED
Osteogenesis imperfecta v3.4 DSPP Eleanor Williams Source Expert Review Red was added to DSPP.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Osteogenesis imperfecta v2.48 DSPP Eleanor Williams commented on gene: DSPP: Updating tags to be Q3_22_expert_review and Q3_22_rating so that gene is included in the next GMS report (Oct 2022)
Osteogenesis imperfecta v2.48 DSPP Eleanor Williams Tag Q3_21_expert_review was removed from gene: DSPP.
Tag Q3_22_rating tag was added to gene: DSPP.
Tag Q3_22_expert_review tag was added to gene: DSPP.
Osteogenesis imperfecta v2.35 DSPP Eleanor Williams Tag Q3_21_expert_review tag was added to gene: DSPP.
Osteogenesis imperfecta v2.35 DSPP Eleanor Williams commented on gene: DSPP: Conflicting reviews so tagging for GMS review.
Osteogenesis imperfecta v2.6 DSPP Zornitza Stark reviewed gene: DSPP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dentinogenesis imperfecta 125490; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Osteogenesis imperfecta v1.41 DSPP Eleanor Williams Classified gene: DSPP as Green List (high evidence)
Osteogenesis imperfecta v1.41 DSPP Eleanor Williams Added comment: Comment on list classification: Following discussion in the GMS musculoskeletal specialist test group Webex on 2019-06-04 it was decided to make this gene green. Sufficient cases.
Osteogenesis imperfecta v1.41 DSPP Eleanor Williams Gene: dspp has been classified as Green List (High Evidence).
Osteogenesis imperfecta v1.40 DSPP Eleanor Williams Mode of inheritance for gene: DSPP was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Osteogenesis imperfecta v1.35 DSPP Eleanor Williams commented on gene: DSPP: PMID: 29512331 - Taleb et al 2018
PMID: 27973701 - Li et al 2017
Osteogenesis imperfecta v1.35 DSPP Eleanor Williams Publications for gene: DSPP were set to 29512331
Osteogenesis imperfecta v1.29 DSPP Eleanor Williams Phenotypes for gene: DSPP were changed from Dentinogenesis imperfecta, Shields type II, 125490; Deafness, autosomal dominant 36, with dentinogenesis, 605594; Dentinogenesis imperfecta, Shields type III, 125500; Dentin dysplasia, type II, 125420 -3 to Dentinogenesis imperfecta, Shields type II, 125490; Deafness, autosomal dominant 36, with dentinogenesis, 605594; Dentinogenesis imperfecta, Shields type III, 125500; Dentin dysplasia, type II, 125420 -3; no fractures
Osteogenesis imperfecta v1.28 DSPP Eleanor Williams Publications for gene: DSPP were set to
Osteogenesis imperfecta v1.19 DSPP Duncan Baker edited their review of gene: DSPP: Added comment: Following discussion with Dr Balasubramanian - rate green; Changed publications: 29512331; Changed phenotypes: Dentinogenesis imperfecta 125490, no fractures
Osteogenesis imperfecta v1.18 DSPP Eleanor Williams reviewed gene: DSPP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.17 DSPP Eleanor Williams Source NHS GMS was added to DSPP.
Osteogenesis imperfecta v1.16 DSPP Duncan Baker reviewed gene: DSPP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29512331, PMID: 26973538, PMID: 27973701; Phenotypes: Dentinogenesis Imperfecta; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted