Deafness_IsolatedAndComplex
Gene: RIPOR2
Comment when marking as ready: Insufficient evidence for Green rating for either MOI.Created: 1 Sep 2020, 11:44 p.m. | Last Modified: 1 Sep 2020, 11:44 p.m.
Panel Version: 0.380
PMID: 32631815 (2020) - A heterozygous 12 nucleotide in-frame deletion (c.1696_1707del, p.Gln566_Lys569del) in RIPOR2 was detected in 12 families of Dutch origin with non-syndromic hearing loss.
In total, the variant was detected in 59/63 affected participants, but also in five unaffected subjects from three family. Age of onset was highly variable, from congenital to 70 years (mean age: 30.6 years) - unaffected family members who harboured the variant were aged 23, 40, 49, 50, and 51 years, respectively. The authors speculate that the four affected subjects without the variant represent phenocopies. The presence of an identical variant in 12 families of common origin, as well as haplotype analysis, indicates a founder effect.
Functional analysis of the variant showed aberrant localisation of mutant-RIPOR2 in early postnatal mouse hair cells, ex vivo; and failure to rescue the stereocilia defects of Ripor2 knockout mice, in contrast to the rescue effect observed in cells expressing wild-type RIPOR2.Created: 1 Sep 2020, 11:40 p.m. | Last Modified: 1 Sep 2020, 11:40 p.m.
Panel Version: 0.377
Single family with bi-allelic variants and animal model data.
Sources: Expert listCreated: 31 Dec 2019, 7:08 a.m. | Last Modified: 1 Sep 2020, 11:40 p.m.
Panel Version: 0.377
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Deafness, autosomal recessive 104, MIM# 616515; Deafness, autosomal dominant 21, MIM# 607017
Publications
Phenotypes for gene: RIPOR2 were changed from Deafness, autosomal recessive 104, MIM# 616515; Deafness, autosomal dominant to Deafness, autosomal recessive 104, MIM# 616515; Deafness, autosomal dominant 21, MIM# 607017
Gene: ripor2 has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: RIPOR2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RIPOR2 were changed from Deafness, autosomal recessive 104, MIM# 616515 to Deafness, autosomal recessive 104, MIM# 616515; Deafness, autosomal dominant
Publications for gene: RIPOR2 were set to 24958875
Tag founder tag was added to gene: RIPOR2.
Gene: ripor2 has been classified as Amber List (Moderate Evidence).
Gene: ripor2 has been classified as Amber List (Moderate Evidence).
gene: RIPOR2 was added gene: RIPOR2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list Mode of inheritance for gene: RIPOR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RIPOR2 were set to 24958875 Phenotypes for gene: RIPOR2 were set to Deafness, autosomal recessive 104, MIM# 616515 Review for gene: RIPOR2 was set to AMBER