Deafness_IsolatedAndComplex
Gene: DSPPComment 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
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 familiesCreated: 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
Gene: dspp has been classified as Amber List (Moderate Evidence).
Publications for gene: DSPP were set to 29741433
Phenotypes for gene: DSPP were changed from Deafness, autosomal dominant 39, with dentinogenesis, MIM# 605594 to Deafness, autosomal dominant 39, with dentinogenesis, MIM# 605594
Phenotypes for gene: DSPP were changed from to Deafness, autosomal dominant 39, with dentinogenesis, MIM# 605594
Publications for gene: DSPP were set to
Mode of inheritance for gene: DSPP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: dspp has been classified as Amber List (Moderate Evidence).
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