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Hearing loss

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 2 panels

4 reviews

Anna de Burca (Genomics England Curator)

I don't know

PMID:24958875 used whole exome sequencing to identify a variant in RIPOR2 (formerly known as FAM65B) affecting a canonical splice site. RNA studies demonstrated skipping of exon 3 as a result of the variant. The homozygous variant segregated with hearing loss in six members of a consanguineous Turkish family with prelingual hearing loss. This remains the only case reported as pathogenic or likely pathogenic in ClinVar. PMID:27269051 and 30280293 report functional evidence for the role of RIPOR2 in the development of stereocilia, including evidence that mouse knockouts are deaf.
Created: 12 Feb 2019, 2:07 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sensorineural hearing loss

Publications

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag. New HGNC-approved name for this gene is RIPOR2.
Created: 14 Sep 2017, 10:04 a.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: A single variant reported in a large consanguinous Turkish family. In vitro evidence and animal model. ClinGen group have rated this strong evidence, however based on the PanelApp guidelines this gene does not reach green evidence level, and so rated amber until evidence in additional unrelated cases arises.
Created: 25 Jul 2017, 11:10 a.m.

Jun Shen (Harvard Medical School)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#616515:?Deafness, autosomal recessive 104[Deafness, sensorineural, profound]

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hearing loss, non-syndromic, autosomal recessive (Diaz-Horta (2014) Proc Natl AcadSci USA 111,9864)
  • Sensorineural hearing loss
  • OrphaNet: ORPHA90636
  • OMIM:616515
OMIM
611410
Clinvar variants
Variants in RIPOR2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

5 Nov 2017, Gel status: 2

Changed Gene Name

GEL ()

FAM65B was changed to RIPOR2

5 Nov 2017, Gel status: 2

Removed Tag

GEL ()

new-gene-name was removed from FAM65B. Panel: Congenital hearing impairment (profound/severe)

25 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

25 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

25 Jul 2017, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for FAM65B were set to Hearing loss, non-syndromic, autosomal recessive (Diaz-Horta (2014) Proc Natl AcadSci USA 111,9864);Sensorineural hearing loss;OrphaNet: ORPHA90636;OMIM:616515

25 Jul 2017, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for FAM65B was changed to BIALLELIC, autosomal or pseudoautosomal

25 Jul 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for FAM65B were set to 17150207; 24958875; 9055809; 9205841;24958875;27269051

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FAM65B was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen