ClinGen Gene Validity Curations

Gene: RIPOR2

Green List (high evidence)

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

1 review

Ellen McDonagh (Genomics England Curator)

This gene and information sourced from the ClinGen Gene Validity Curations. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.
Created: 23 Jun 2017, 11:51 a.m.
New HGNC-approved name for this gene is RIPOR2.
Created: 23 Jun 2017, 8:33 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • autosomal recessive nonsyndromic deafness 104
OMIM
611410
Clinvar variants
Variants in RIPOR2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

5 Nov 2017, Gel status: 4

Changed Gene Name

GEL ()

FAM65B was changed to RIPOR2

5 Nov 2017, Gel status: 4

Removed Tag

GEL ()

new-gene-name was removed from FAM65B. Panel: ClinGen Gene Validity Curations

23 Jun 2017, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for FAM65B were set to 24958875;27269051

23 Jun 2017, Gel status: 4

Changed Gene Name

Ellen McDonagh (Genomics England Curator)

RIPOR2* was changed to FAM65B

22 Jun 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

RIPOR2* was created by ellenmcdonagh

22 Jun 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

RIPOR2* was added to ClinGen Gene Validity Curationspanel. Sources: ClinGen,Expert Review Green