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Skeletal dysplasia

Gene: DSPP

Green List (high evidence)

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

1 review

Eleanor Williams (Genomics England Curator)

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

Details

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

History Filter Activity

25 Sep 2021, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag Q3_21_expert_review tag was added to gene: DSPP.

11 Dec 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).

9 Sep 2019, Gel status: 1

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: dspp has been classified as Red List (Low Evidence).

9 Sep 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).

9 Sep 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: DSPP were set to

9 Sep 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

9 Aug 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

DSPP was created by sleigh

18 May 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

DSPP was added to Unexplained skeletal dysplasiapanel. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red