Structural eye disease
Gene: RP9

RP9 (RP9, pre-mRNA splicing factor)
EnsemblGeneIds (GRCh38): ENSG00000164610
EnsemblGeneIds (GRCh37): ENSG00000164610
OMIM: 607331, Gene2Phenotype
RP9 is in 3 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
?Retinitis pigmentosa 9; 180104

Mode of pathogenicity
Other - please provide details in the comments

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
?Retinitis pigmentosa 9, 180104

Mode of pathogenicity
Other - please provide details in the comments

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.48

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Expert Review Red

Phenotypes

?Retinitis pigmentosa 9, 180104
Eye Disorders

OMIM

607331

Clinvar variants

Variants in RP9

Penetrance

None

Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to RP9. Mode of inheritance for gene RP9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes ?Retinitis pigmentosa 9, 180104 for gene: RP9

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: RP9 was added gene: RP9 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: RP9 was set to Phenotypes for gene: RP9 were set to Eye Disorders

Structural eye disease Gene: RP9