This Panel is marked as Internal
ClinGen Gene Validity Curations
Gene: RIPOR2
RIPOR2 (RHO family interacting cell polarization regulator 2)
EnsemblGeneIds (GRCh38): ENSG00000111913
EnsemblGeneIds (GRCh37): ENSG00000111913
OMIM: 611410, Gene2Phenotype
RIPOR2 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000111913
EnsemblGeneIds (GRCh37): ENSG00000111913
OMIM: 611410, Gene2Phenotype
RIPOR2 is in 1 panel
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
-
- ClinGen
- Expert Review Green
- 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