Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Glaucoma (developmental)

Gene: RPGRIP1

Red List (low evidence)

RPGRIP1 (RPGR interacting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000092200
EnsemblGeneIds (GRCh37): ENSG00000092200
OMIM: 605446, Gene2Phenotype
RPGRIP1 is in 12 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
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cone-rod dystrophy 13; Leber congenital amaurosis 6; 608194; 613826

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
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cone-rod dystrophy 13, 608194; Leber congenital amaurosis 6, 613826

History Filter Activity

27 Apr 2017, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.

11 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

RPGRIP1 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory