Primary ciliary disorders
Gene: RPGREnsemblGeneIds (GRCh38): ENSG00000156313
EnsemblGeneIds (GRCh37): ENSG00000156313
OMIM: 312610, Gene2Phenotype
RPGR is in 11 panels
5 reviews
Louise Daugherty (Genomics England Curator)
Comment on mode of inheritance: Changed to X-linked, encoded on chromosome Xp11.4Created: 25 Sep 2017, 9:29 a.m.
Helen Brittain (Genomics England Curator)
Phenotype not clealy relevant to isomerism. See expert review from Hannah Mitchison for rationale for inclusion on PCD panelCreated: 4 Jul 2017, 7:25 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Retinitis pigmentosa 3
Caroline Wright (Genomics England Curator)
Comment on list classification: Discussed in group at GEL and agreed to include due to phenotypic overlapCreated: 10 May 2016, 9:57 a.m.
Ian Berry (Leeds Genetics Laboratory)
Gene should be deleted - causes a primary ciliopathy;PCD is a motile ciliopathy, likely unrelated at a functional level.Created: 8 Dec 2015, 5:33 p.m.
Phenotypes
ciliopathies
Hannah Mitchison (UCL and GOSH)
UK mutations reported. OMIM does not seem to have picked up RPGR as an increasingly important cause of syndromic PCD syndromic cause. It is now clear that RPGR mutations can cause PCD+RP in a number of cases. (HM unpublished data and Bukowy-Bieryllo et al. Pediatr Pulmonol. 2013 Apr;48(4):352-63)Created: 8 Dec 2015, 4:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
Publications
- PMID:16055928
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- ciliopathies
- OMIM
- 312610
- Clinvar variants
- Variants in RPGR
- Penetrance
- Complete
- Panels with this gene
-
- Retinal disorders
- Ophthalmological ciliopathies
- Monogenic hearing loss
- Respiratory ciliopathies including non-CF bronchiectasis
- Intellectual disability
- Structural eye disease
- Skeletal dysplasia
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
Set Mode of Inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for RPGR was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Set Mode of Inheritance
Caroline Wright (Genomics England Curator)Mode of inheritance for RPGR was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)RPGR was added to Primary ciliary disorderspanel. Sources: Emory Genetics Laboratory