Retinitis pigmentosa_Autosomal Dominant

Gene: PRPH2

Green List (high evidence)

PRPH2 (peripherin 2)
EnsemblGeneIds (GRCh38): ENSG00000112619
EnsemblGeneIds (GRCh37): ENSG00000112619
OMIM: 179605, Gene2Phenotype
PRPH2 is in 6 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified as Definitive by ClinGen Retina GCEP on 01/02/2024 - https://search.clinicalgenome.org/CCID:005901

AR individuals present with early onset and more severe RP phenotype compared to those with AD variants.
LoF appears to be the mechanism of disease for both AR and AD.
Created: 5 Jun 2025, 1 a.m. | Last Modified: 5 Jun 2025, 1 a.m.
Panel Version: 0.57

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
PRPH2-related retinopathy MONDO:1040055

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 7
OMIM
179605
Clinvar variants
Variants in PRPH2
Penetrance
None
Panels with this gene

History Filter Activity

23 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PRPH2 was added gene: PRPH2 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PRPH2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PRPH2 were set to Retinitis pigmentosa 7