Structural eye disease
Gene: RPGRIP1EnsemblGeneIds (GRCh38): ENSG00000092200
EnsemblGeneIds (GRCh37): ENSG00000092200
OMIM: 605446, Gene2Phenotype
RPGRIP1 is in 11 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cone-rod dystrophy 13; Leber congenital amaurosis 6; 608194; 613826
Ivone Leong (Genomics England Curator)
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 diseaseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cone-rod dystrophy 13, 608194; Leber congenital amaurosis 6, 613826
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Cone-rod dystrophy 13, 608194
- Leber congenital amaurosis 6, 613826
- Eye Disorders
- OMIM
- 605446
- Clinvar variants
- Variants in RPGRIP1
- Penetrance
- None
- Panels with this gene
History Filter Activity
Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)Source NHS GMS was added to RPGRIP1. Mode of inheritance for gene RPGRIP1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Cone-rod dystrophy 13, 608194; Leber congenital amaurosis 6, 613826 for gene: RPGRIP1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: RPGRIP1 was added gene: RPGRIP1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: RPGRIP1 was set to Phenotypes for gene: RPGRIP1 were set to Eye Disorders