Retinitis pigmentosa_Autosomal Dominant

Gene: PRPF8

Green List (high evidence)

PRPF8 (pre-mRNA processing factor 8)
EnsemblGeneIds (GRCh38): ENSG00000174231
EnsemblGeneIds (GRCh37): ENSG00000174231
OMIM: 607300, Gene2Phenotype
PRPF8 is in 4 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Other phenotypes are associated with this gene.
At least 3 unrelated families reported with nonsyndromic RP.
Nonsyndromic cases of RP appears to be clustered at the C-terminal of the gene.
20301590 - 2-3% reported non-syndromic RP cases are due to variants in this gene.
Created: 20 May 2025, 2:17 a.m. | Last Modified: 20 May 2025, 2:17 a.m.
Panel Version: 0.57

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
PRPF8-related retinopathy MONDO:0700234

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 13, MIM#600059
  • PRPF8-related retinopathy MONDO:0700234
OMIM
607300
Clinvar variants
Variants in PRPF8
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: prpf8 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: PRPF8 were changed from Retinitis pigmentosa 13, 600059 to Retinitis pigmentosa 13, MIM#600059; PRPF8-related retinopathy MONDO:0700234

9 Jun 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PRPF8 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: PRPF8 was added gene: PRPF8 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PRPF8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PRPF8 were set to Retinitis pigmentosa 13, 600059