Deafness_IsolatedAndComplex
Gene: DSPP

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Three families altogether, two with the same variant, V18F. One with isolated deafness, two with dental phenotype as well as deafness. Some functional data to support impact on protein. Mouse model has dental phenotype.
Created: 3 Jul 2020, 3:18 a.m. | Last Modified: 3 Jul 2020, 3:18 a.m.

Panel Version: 0.358

Created: 3 Jul 2020, 3:18 a.m.
Last Modified: 3 Jul 2020, 3:18 a.m.
Panel version: 0.358

Lilian Downie (Victorian Clinical Genetics Services)

I don't know

PMID: 29741433 - described as causative mutation for deafness in single family but describes 2x missense variants and dominant pattern in family. This is a nonsyndromic deafness phenotype
PMID: 11175790 - denintogenesis imperfecta - sensorinueral hearing lsos in 2 families
Created: 3 Jul 2020, 1:57 a.m. | Last Modified: 3 Jul 2020, 1:57 a.m.

Panel Version: 0.353

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

PMID: 29741433

Created: 3 Jul 2020, 1:57 a.m.
Last Modified: 3 Jul 2020, 1:57 a.m.
Panel version: 0.353

Details

Mode of Inheritance

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

OMIM

125485

Clinvar variants

Variants in DSPP

Penetrance

None

Publications

Panels with this gene