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Deafness_IsolatedAndComplex

Gene: DSPP

Amber List (moderate evidence)

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

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

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

History Filter Activity

3 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dspp has been classified as Amber List (Moderate Evidence).

3 Jul 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DSPP were set to 29741433

3 Jul 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DSPP were changed from Deafness, autosomal dominant 39, with dentinogenesis, MIM# 605594 to Deafness, autosomal dominant 39, with dentinogenesis, MIM# 605594

3 Jul 2020, Gel status: 2

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

3 Jul 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DSPP were set to

3 Jul 2020, Gel status: 2

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

3 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dspp has been classified as Amber List (Moderate Evidence).

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 Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: DSPP was set to Unknown