DSPP

dentin sialophosphoprotein
OMIM: 125485, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green DSPP in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal dominant 39, with dentinogenesis - MIM#605594
  • Dentin dysplasia, type II - MIM#125420
  • Dentinogenesis imperfecta, Shields type II - MIM#125490
  • Dentinogenesis imperfecta, Shields type III - MIM#125500

Amber DSPP in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.194

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal dominant 39, with dentinogenesis, MIM# 605594

Green DSPP in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

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

Green DSPP in Amelogenesis imperfecta


Level 2: Skeletal disorders
Version 1.10

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Dentinogenesis imperfecta, Shields type II, OMIM #125490