Monogenic hearing loss
Gene: DSPPEnsemblGeneIds (GRCh38): ENSG00000152591
EnsemblGeneIds (GRCh37): ENSG00000152591
OMIM: 125485, Gene2Phenotype
DSPP is in 6 panels
3 reviews
Maria Bitner-Glindzicz (UCL)
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 OMIMCreated: 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
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
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
Set Mode of Inheritance
Damian Smedley (Genomics England Curator)Mode of inheritance for DSPP was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
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
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
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