Skeletal dysplasia
Gene: DSPP

DSPP (dentin sialophosphoprotein)
EnsemblGeneIds (GRCh38): ENSG00000152591
EnsemblGeneIds (GRCh37): ENSG00000152591
OMIM: 125485, Gene2Phenotype
DSPP is in 6 panels

2 reviews

Michael Oldridge (NHS)

Red List (low evidence)

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

Created: 17 Jan 2022, 1:34 p.m.
Last Modified: 17 Jan 2022, 1:35 p.m.
Panel version: 2.168

Eleanor Williams (Genomics England Curator)

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 2017
Created: 9 Sep 2019, 9:37 p.m. | Last Modified: 9 Sep 2019, 9:37 p.m.

Panel Version: 1.195

Created: 9 Sep 2019, 9:37 p.m.
Last Modified: 11 Dec 2019, 2:01 p.m.
Panel version: 2.184

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Radboud University Medical Center, Nijmegen

Phenotypes

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

OMIM

125485

Clinvar variants

Variants in DSPP

Penetrance

Complete

Publications

Panels with this gene