Skeletal dysplasia
Gene: DSPP
agree should be demoted to Red.
Dentinogenesis imperfecta appears to only affect the teeth, no evidence of OI phenotype in reported cases.Created: 17 Jan 2022, 1:34 p.m. | Last Modified: 17 Jan 2022, 1:35 p.m.
Panel Version: 2.168
Phenotypes
Dentinogenesis imperfecta
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 6 Mar 2022, 6:30 p.m. | Last Modified: 6 Mar 2022, 6:30 p.m.
Panel Version: 2.184
This gene has been reviewed as RED on the Osteogenesis imperfecta panel by Zorntiza Stark with comment "Specifically NOT associated with fractures/OI.", and therefore has been tagged for further GMS review on this panel also.Created: 25 Sep 2021, 10:38 a.m. | Last Modified: 25 Sep 2021, 10:38 a.m.
Panel Version: 2.124
Comment on list classification: Changing rating from red to green. Including genes that are green on the Osteogenesis imperfecta panel (panel ID:196, version 2.0) as green on the Skeletal dysplasia panel on the advice of Prof Lyn Chitty.Created: 11 Dec 2019, 2:01 p.m. | Last Modified: 11 Dec 2019, 2:01 p.m.
Panel Version: 1.256
Comment on list classification: Decided to wait for GMS approval before upgrading to green on this panel. Demoting back to red.Created: 9 Sep 2019, 9:48 p.m. | Last Modified: 9 Sep 2019, 9:48 p.m.
Panel Version: 1.200
Comment on list classification: Green on the Osteogenesis imperfecta panel so making green on this panel.Created: 9 Sep 2019, 9:39 p.m. | Last Modified: 9 Sep 2019, 9:39 p.m.
Panel Version: 1.198
This gene has been made green on the Osteogenesis Imperfecta panel so should be made green on the Skeletal dysplasia panel. Comment on list classification from the OI Panel: 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.
PMID: 29512331 - Taleb et al 2018
PMID: 27973701 - Li et al 2017Created: 9 Sep 2019, 9:37 p.m. | Last Modified: 9 Sep 2019, 9:37 p.m.
Panel Version: 1.195
Tag Q3_21_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 tag was added to gene: DSPP.
Gene: dspp has been classified as Green List (High Evidence).
Gene: dspp has been classified as Red List (Low Evidence).
Gene: dspp has been classified as Green List (High Evidence).
Publications for gene: DSPP were set to
Mode of inheritance for gene: DSPP was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Promoted to version 1 9th August 2016
DSPP was created by sleigh
DSPP was added to Unexplained skeletal dysplasiapanel. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red