Osteogenesis imperfecta
Gene: DSPP

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

6 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

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

Created: 26 Jul 2020, 11:57 p.m.
Last Modified: 26 Jul 2020, 11:57 p.m.
Panel version: 2.6

Eleanor Williams (Genomics England Curator)

Red List (low evidence)

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 2017
Created: 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: green
Created: 3 Apr 2019, 4:08 p.m.

Created: 3 Apr 2019, 4:08 p.m.

Panel version: 3.5

Duncan Baker (Sheffield Genetics)

Green List (high evidence)

Following discussion with Dr Balasubramanian - rate green
Created: 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

29512331

Created: 22 Jan 2019, 11:40 a.m.

Panel version: 1.19

Chris Boustred (Genomics England)

Comment when marking as ready: Keep as red gene because of differences between expert reviewers opinions
Created: 10 May 2016, 12:52 p.m.

Created: 10 May 2016, 12:52 p.m.

Panel version: 0.27

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

Green List (high evidence)

Dentinogenesis Imperfecta
Created: 27 Nov 2015, 3:03 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 27 Nov 2015, 3:03 p.m.

Panel version: 0

Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)

Red List (low evidence)

There is no evidence to support a causal role of this gene in this particular disease
Created: 28 Sep 2015, 2:14 p.m.

Created: 28 Sep 2015, 2:14 p.m.

Panel version: 0

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
NHS GMS
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
no fractures

OMIM

125485

Clinvar variants

Variants in DSPP

Penetrance

Complete

Publications

Panels with this gene