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Research panel - Severe Paediatric Disorders

Gene: DSPP

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: DSPP; Recommended initial gene rating: Green List (high evidence); Phenotypes: Deafness, autosomal dominant 39, with dentinogenesis, 605594 (3) | Dentin dysplasia, type II, 125420 (3) | Dentinogenesis imperfecta, Shields type II, 125490 (3) | Dentinogenesis imperfecta, Shields type III, 125500 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:18 p.m. | Last Modified: 20 Feb 2020, 5:18 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:18 p.m.
Last Modified: 20 Feb 2020, 5:18 p.m.
Panel version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Dentinogenesis imperfecta, Shields type II, 125490
  • Dentinogenesis imperfecta, Shields type III, 125500
  • Deafness, autosomal dominant 39, with dentinogenesis, 605594
  • Dentin dysplasia, type II, 125420
OMIM
125485
Clinvar variants
Variants in DSPP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene DSPP was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene DSPP were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Dentinogenesis imperfecta, Shields type II, 125490; Dentinogenesis imperfecta, Shields type III, 125500; Deafness, autosomal dominant 39, with dentinogenesis, 605594; Dentin dysplasia, type II, 125420 for gene: DSPP

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Dentinogenesis imperfecta, Shields type II, 125490; Dentinogenesis imperfecta, Shields type III, 125500; Deafness, autosomal dominant 39, with dentinogenesis, 605594; Dentin dysplasia, type II, 125420 for gene: DSPP

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Dentinogenesis imperfecta, Shields type II, 125490; Dentinogenesis imperfecta, Shields type III, 125500; Deafness, autosomal dominant 39, with dentinogenesis, 605594; Dentin dysplasia, type II, 125420 for gene: DSPP

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Dentin dysplasia, type II, 125420; Deafness, autosomal dominant 39, with dentinogenesis, 605594; Dentinogenesis imperfecta, Shields type II, 125490; Dentinogenesis imperfecta, Shields type III, 125500 for gene: DSPP

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to DSPP.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to DSPP. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: DSPP was added gene: DSPP was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: DSPP was set to