Retinitis pigmentosa_Autosomal Dominant
Gene: RP9EnsemblGeneIds (GRCh38): ENSG00000164610
EnsemblGeneIds (GRCh37): ENSG00000164610
OMIM: 607331, Gene2Phenotype
RP9 is in 2 panels
1 review
Belinda Chong (Victorian Clinical Genetics Services)
OMIM:
- PMID16799052: Subsequent sequencing and analysis showed the heterozygous H137L variant to be a 'paralogous variant' resulting from simultaneous amplification of 2 highly similar sequences: PAP1 on 7p14.2 and a PAP1-like gene 20 kb distal to PAP1. Based on these results, Sullivan et al. (2006) questioned whether PAP1 is the RP9-causing gene.
- PMID16671097: Identified a colocalized, nonprocessed pseudogene for the RP9 gene that carries the D170G (509A-G) substitution. The authors considered it likely that the D170G mutation arises in the RP9 progenitor gene through gene conversion with its pseudogene. The D170G mutation had not theretofore been recognized as an instance of gene conversion between the progenitor gene and its pseudogene.
All pathogenic variants in ClinVar are large CNVs including RP9 gene.Created: 9 May 2022, 6:58 a.m. | Last Modified: 9 May 2022, 6:58 a.m.
Panel Version: 0.47
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
?Retinitis pigmentosa 9 MIM#180104
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Royal Melbourne Hospital
- Phenotypes
-
- Retinitis pigmentosa 9, 180104
- OMIM
- 607331
- Clinvar variants
- Variants in RP9
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rp9 has been classified as Red List (Low Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: RP9 were set to
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rp9 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: RP9 was added gene: RP9 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: RP9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RP9 were set to Retinitis pigmentosa 9, 180104