Retinitis pigmentosa_Autosomal Dominant
Gene: TOPORS
Classified as Definitive by ClinGen Retina GCEP on 06/04/2023 - https://search.clinicalgenome.org/CCID:006417
Well established gene-disease association with affected individuals presenting with photoreceptor degeneration and RP. Haploinsufficiency appears to be the mechanism of pathogenicity.Created: 5 Jun 2025, 1:45 a.m. | Last Modified: 5 Jun 2025, 1:45 a.m.
Panel Version: 0.57
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
TOPORS-related retinopathy MONDO:0700233
Publications
Gene: topors has been classified as Green List (High Evidence).
Phenotypes for gene: TOPORS were changed from Retinitis pigmentosa 31, 609923 to Retinitis pigmentosa 31, MIM#609923; TOPORS-related retinopathy MONDO:0700233
Publications for gene: TOPORS were set to
gene: TOPORS was added gene: TOPORS was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: TOPORS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TOPORS were set to Retinitis pigmentosa 31, 609923