Osteogenesis imperfecta
Gene: DSPP
Specifically NOT associated with fractures/OI.Created: 26 Jul 2020, 11:57 p.m. | Last Modified: 26 Jul 2020, 11:57 p.m.
Panel Version: 2.6
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dentinogenesis imperfecta 125490
The rating of this gene has been updated to red following NHS Genomic Medicine Service approval.Created: 2 Feb 2023, 11:26 p.m. | Last Modified: 2 Feb 2023, 11:26 p.m.
Panel Version: 3.5
Updating tags to be Q3_22_expert_review and Q3_22_rating so that gene is included in the next GMS report (Oct 2022)Created: 5 Oct 2022, 5:27 p.m. | Last Modified: 5 Oct 2022, 5:27 p.m.
Panel Version: 2.48
Conflicting reviews so tagging for GMS review.Created: 16 Sep 2021, 12:55 p.m. | Last Modified: 16 Sep 2021, 12:55 p.m.
Panel Version: 2.35
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. Overlap with the Amelogenesis imperfecta panel but still appropriate for this panel.Created: 11 Jun 2019, 2:51 p.m.
PMID: 29512331 - Taleb et al 2018
PMID: 27973701 - Li et al 2017Created: 15 May 2019, 3:40 p.m.
This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: DSPP; Suggested initial gene rating: greenCreated: 3 Apr 2019, 4:08 p.m.
Following discussion with Dr Balasubramanian - rate greenCreated: 3 Apr 2019, 4:14 p.m.
PMID: 29512331 Three DI families, heterozygous mutations (2x missense, 1x splice site).
PMID: 27973701 Four DI variants with heterozygous mutations.Created: 22 Jan 2019, 11:40 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dentinogenesis imperfecta 125490; no fractures
Publications
Comment when marking as ready: Keep as red gene because of differences between expert reviewers opinionsCreated: 10 May 2016, 12:52 p.m.
Dentinogenesis ImperfectaCreated: 27 Nov 2015, 3:03 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
There is no evidence to support a causal role of this gene in this particular diseaseCreated: 28 Sep 2015, 2:14 p.m.
Tag Q3_22_rating was removed from gene: DSPP. Tag Q3_22_expert_review was removed from gene: DSPP.
Source Expert Review Red was added to DSPP. Rating Changed from Green List (high evidence) to Red List (low evidence)
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.
Tag Q3_21_expert_review tag was added to gene: DSPP.
Gene: dspp has been classified as Green List (High Evidence).
Mode of inheritance for gene: DSPP was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DSPP were set to 29512331
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
Publications for gene: DSPP were set to
Source NHS GMS was added to DSPP.
This gene has been classified as Red List (Low Evidence).
DSPP was added to Osteogenesis Imperfecta panel. Sources: Radboud University Medical Center, Nijmegen