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Deafness_IsolatedAndComplex

Gene: RIPOR2

Amber List (moderate evidence)

RIPOR2 (RHO family interacting cell polarization regulator 2)
EnsemblGeneIds (GRCh38): ENSG00000111913
EnsemblGeneIds (GRCh37): ENSG00000111913
OMIM: 611410, Gene2Phenotype
RIPOR2 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

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 list
Created: 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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Deafness, autosomal recessive 104, MIM# 616515
  • Deafness, autosomal dominant 21, MIM# 607017
Tags
founder
OMIM
611410
Clinvar variants
Variants in RIPOR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ripor2 has been classified as Amber List (Moderate Evidence).

1 Sep 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RIPOR2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

1 Sep 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RIPOR2 were changed from Deafness, autosomal recessive 104, MIM# 616515 to Deafness, autosomal recessive 104, MIM# 616515; Deafness, autosomal dominant

1 Sep 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RIPOR2 were set to 24958875

1 Sep 2020, Gel status: 2

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag founder tag was added to gene: RIPOR2.

31 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ripor2 has been classified as Amber List (Moderate Evidence).

31 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ripor2 has been classified as Amber List (Moderate Evidence).

31 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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