1. Genes and Genomic Entities
  2. DSPP

DSPP

dentin sialophosphoprotein
OMIM: 125485, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red DSPP in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.33
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Dentinogenesis imperfecta, Shields type II, 125490
    • Deafness, autosomal dominant 36, with dentinogenesis, 605594
    • Dentinogenesis imperfecta, Shields type III, 125500
    • Dentin dysplasia, type II, 125420 -3
    Red DSPP in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II
    • DEAFNESS AUTOSOMAL DOMINANT TYPE 39 WITH DENTINOGENESIS IMPERFECTA 1
    Red DSPP in Osteogenesis imperfecta


    Level 2: Musculoskeletal
    Version 5.4
    Latest signed off version: v5.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • NHS GMS
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Dentinogenesis imperfecta, Shields type II, 125490
    • Deafness, autosomal dominant 36, with dentinogenesis, 605594
    • Dentinogenesis imperfecta, Shields type III, 125500
    • Dentin dysplasia, type II, 125420 -3
    • no fractures
    Green DSPP in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II 125490
    • DEAFNESS AUTOSOMAL DOMINANT TYPE 39 WITH DENTINOGENESIS IMPERFECTA 1 605594
    Green DSPP in Monogenic hearing loss


    Level 2: Audiology
    Version 5.57
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review 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
    Red DSPP in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Dentinogenesis imperfecta, Shields type II, 125490
    • Deafness, autosomal dominant 36, with dentinogenesis, 605594
    • Dentinogenesis imperfecta, Shields type III, 125500
    • Dentin dysplasia, type II, 125420