Deafness_IsolatedAndComplex
Gene: CLPP
Perrault syndrome (PRLTS) is an autosomal recessive disorder characterized by sensorineural hearing loss (SNHL) and premature ovarian failure (POF) secondary to ovarian dysgenesis. Affected males have SNHL but show normal pubertal development. A spectrum of additional clinical features, including cerebellar ataxia, learning disability, and peripheral neuropathy, have been described in some affected individuals. More than 5 unrelated families (11 probands) reported, mouse model.Created: 28 Sep 2020, 10:06 a.m. | Last Modified: 28 Sep 2020, 10:12 a.m.
Panel Version: 0.425
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Perrault syndrome 3, MIM# 614129
Publications
Publications for gene: CLPP were set to 23541340; 27087618; 27899912; 25254289
Gene: clpp has been classified as Green List (High Evidence).
Phenotypes for gene: CLPP were changed from to Perrault syndrome 3, MIM# 614129
Publications for gene: CLPP were set to
Mode of inheritance for gene: CLPP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: CLPP was added gene: CLPP 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: CLPP was set to Unknown