1. Genes and Genomic Entities
  2. RIPOR2

RIPOR2

RHO family interacting cell polarization regulator 2
OMIM: 611410, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green RIPOR2 in ClinGen Gene Validity Curations


Version 0.65

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • autosomal recessive nonsyndromic deafness 104
Amber RIPOR2 in Monogenic hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.36
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Deafness, autosomal dominant 21, OMIM:607017
    • ?Deafness, autosomal recessive 104, OMIM:616515
    Tags
    • founder-effect