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Hearing loss

Gene: DSPP

Green List (high evidence)

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

3 reviews

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Jun Shen (Harvard Medical School)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
#125420:Dentin dysplasia, type II[Amber, translucent coloration (primary teeth)Obliteration of pulp chambers following eruption (primary teeth)Normal-shaped roots (primary teeth)Normal coloration (secondary teeth)Thistle-shaped pulp chambers (secondary teeth)Multiple pulp stones (secondary teeth)Normal-shaped roots (secondary teeth)]; #125490:Dentinogenesis imperfecta, Shields type II[Dentinogenesis imperfectaBrown-blue or opalescent brown teethBulbous shaped crownNarrow rootsRoot canals are small or obliteratedAbsent pulp chambersSevere attritionPrimary and secondary teeth affected]; #125500:Dentinogenesis imperfecta, Shields type III[Anterior openbite; Primary and secondary teeth affectedAmber-opalescent colored teeth (primary and secondary)Marked attrition (primary and secondary)Enamel pitting (secondary)Normal-to-enlarged pulp chamber (primary)Obliterated pulp chamber (secondary)Periapical radiolucenciesPulp exposuresIncisal notchingShell teethBulbous tooth crowns]; #605594:Deafness, autosomal dominant 39, with dentinogenesis[Progressive high-frequency hearing loss (onset 20-30 years)Tinnitus; Dentinogenesis imperfecta]

Publications

Damian Smedley (Genomics England Curator)

Comment on list classification: Good evidence from expert reviewer and OMIM
Created: 31 Jan 2016, 7:41 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • hearing loss
  • Dentinogenesis imperfecta, Shields type II, 125490
  • Deafness, autosomal dominant 36, with dentinogenesis, 605594
  • Dentinogenesis imperfecta, Shields type III, 125500
  • Dentin dysplasia, type II, 125420
  • Dentin dysplasia, type II,1254203
OMIM
125485
Clinvar variants
Variants in DSPP
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for DSPP were set to hearing loss; Dentinogenesis imperfecta, Shields type II, 125490; Deafness, autosomal dominant 36, with dentinogenesis, 605594; Dentinogenesis imperfecta, Shields type III, 125500; Dentin dysplasia, type II, 125420; Dentin dysplasia, type II,1254203

17 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for DSPP were set to PMID:10706475; 11116156; 11175770; 11175779; 11175790; 12354781; 12721295; 14758537; 15592686; 15954904; 17210923; 18456718; 22392858; 22582013; 2433419; 2462619; 7573043; 8995371; 9533027

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

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

31 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

31 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

DSPP was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

DSPP was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DSPP was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert