Amelogenesis imperfecta

Gene: DSPP

Red List (low evidence)

Comment on list classification: After review by the Genomics England Clinical Team, it was decided that Dentinogenesis Imperfecta (DI) is not in scope of the Amelogenesis imperfecta (AI) panel, as it is readily distinguishable from AI by dental specialists. Since individuals reported with DSPP variants do not present with osteogenesis imperfecta, there is currently no GMS panel this gene would fit into. The rating should remain Red for this indication.

Created: 5 Oct 2026, 3:16 p.m. | Last Modified: 5 Oct 2026, 3:16 p.m.

Panel Version: 4.38

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

• 18456718
• 39806231