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Mendeliome

Gene: DSPP

Green List (high evidence)

DSPP (dentin sialophosphoprotein)
EnsemblGeneIds (GRCh38): ENSG00000152591
EnsemblGeneIds (GRCh37): ENSG00000152591
OMIM: 125485, Gene2Phenotype
DSPP is in 4 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Details

Mode of Inheritance
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
OMIM
125485
Clinvar variants
Variants in DSPP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Feb 2025, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: DSPP were set to

20 May 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dspp has been classified as Green List (High Evidence).

20 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DSPP were changed from to 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

20 May 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DSPP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DSPP was added gene: DSPP was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DSPP was set to Unknown