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Amelogenesis imperfecta

Gene: DSPP

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

1 review

Ida Ertmanska (Genomics England Curator)

Green List (high evidence)

PMID: 39806231 Gilani, Saikia, and Anthonappa, 2025
Lit review of 322 cases with non-syndromic dentinogenesis imperfecta (DI - characterized clinically by amber or gray-yellow opalescent tooth discoloration, obliteration of pulp chambers and root canals, and attrition. Both deciduous and permanent teeth are affected (PMID: 18456718 Song et al., 2008)).
DSPP mutations were the most frequent, with 59 documented variants from 37 publications. 34/59 variants were in exon 5 of DSPP.
Sources: Literature
Created: 26 May 2026, 10:49 a.m. | Last Modified: 27 May 2026, 6:19 p.m.
Panel Version: 4.33

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Deafness, autosomal dominant 39, with dentinogenesis, OMIM:605594; Dentin dysplasia, type II, OMIM:125420; Dentinogenesis imperfecta, Shields type II, OMIM:125490; Dentinogenesis imperfecta, Shields type III, OMIM:125500

Publications

Created: 26 May 2026, 10:49 a.m.
Last Modified: 27 May 2026, 6:19 p.m.
Panel version: 4.33

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Deafness, autosomal dominant 39, with dentinogenesis, OMIM:605594
  • Dentin dysplasia, type II, OMIM:125420
  • Dentinogenesis imperfecta, Shields type II, OMIM:125490
  • Dentinogenesis imperfecta, Shields type III, OMIM:125500
OMIM
125485
Clinvar variants
Variants in DSPP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 May 2026, Gel status: 2

Entity classified by Genomics England curator

Ida Ertmanska (Genomics England Curator)

Gene: dspp has been classified as Amber List (Moderate Evidence).

26 May 2026, Gel status: 1

Set publications

Ida Ertmanska (Genomics England Curator)

Publications for gene: DSPP were set to 1845671839806231

26 May 2026, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ida Ertmanska (Genomics England Curator)

gene: DSPP was added gene: DSPP was added to Amelogenesis imperfecta. Sources: Literature Mode of inheritance for gene: DSPP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DSPP were set to 1845671839806231 Phenotypes for gene: DSPP were set to Deafness, autosomal dominant 39, with dentinogenesis, OMIM:605594; Dentin dysplasia, type II, OMIM:125420; Dentinogenesis imperfecta, Shields type II, OMIM:125490; Dentinogenesis imperfecta, Shields type III, OMIM:125500 Review for gene: DSPP was set to GREEN