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Osteogenesis imperfecta

Gene: DSPP

Green List (high evidence)

DSPP (dentin sialophosphoprotein)
EnsemblGeneIds (GRCh38): ENSG00000152591
EnsemblGeneIds (GRCh37): ENSG00000152591
OMIM: 125485, Gene2Phenotype
DSPP is in 7 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

Eleanor Williams (Genomics England Curator)

I don't know

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.

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

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.

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

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.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • 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
Tags
Q3_21_expert_review
OMIM
125485
Clinvar variants
Variants in DSPP
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

16 Sep 2021, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag Q3_21_expert_review tag was added to gene: DSPP.

11 Jun 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: dspp has been classified as Green List (High Evidence).

11 Jun 2019, Gel status: 1

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: DSPP was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

15 May 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: DSPP were set to 29512331

15 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

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

15 May 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: DSPP were set to

13 Mar 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to DSPP.

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

Chris Boustred (Genomics England)

This gene has been classified as Red List (Low Evidence).

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DSPP was added to Osteogenesis Imperfecta panel. Sources: Radboud University Medical Center, Nijmegen