Retinitis pigmentosa_Autosomal Dominant

Gene: TOPORS

Green List (high evidence)

TOPORS (TOP1 binding arginine/serine rich protein)
EnsemblGeneIds (GRCh38): ENSG00000197579
EnsemblGeneIds (GRCh37): ENSG00000197579
OMIM: 609507, Gene2Phenotype
TOPORS is in 7 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 31, MIM#609923
  • TOPORS-related retinopathy MONDO:0700233
OMIM
609507
Clinvar variants
Variants in TOPORS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Jun 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: topors has been classified as Green List (High Evidence).

9 Jun 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TOPORS were changed from Retinitis pigmentosa 31, 609923 to Retinitis pigmentosa 31, MIM#609923; TOPORS-related retinopathy MONDO:0700233

9 Jun 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TOPORS were set to

23 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

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