Rare multisystem ciliopathy disorders
Gene: RPGR
RPGR (retinitis pigmentosa GTPase regulator)
EnsemblGeneIds (GRCh38): ENSG00000156313
EnsemblGeneIds (GRCh37): ENSG00000156313
OMIM: 312610, Gene2Phenotype
RPGR is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000156313
EnsemblGeneIds (GRCh37): ENSG00000156313
OMIM: 312610, Gene2Phenotype
RPGR is in 11 panels
1 review
Alice Gardham (Genomics England)
Comment when marking as ready: Retinitis pigmentosa not included in this panelCreated: 23 Jan 2017, 4:02 p.m.
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Expert list
- OMIM
- 312610
- Clinvar variants
- Variants in RPGR
- Penetrance
- Complete
- Panels with this gene
-
- Skeletal dysplasia
- Respiratory ciliopathies including non-CF bronchiectasis
- Ophthalmological ciliopathies
- Intellectual disability
- Retinal disorders
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Structural eye disease
- Rare multisystem ciliopathy disorders
- Monogenic hearing loss
History Filter Activity
26 Jan 2017, Gel status: 1
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
23 Jan 2017, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
25 Nov 2016, Gel status: 1
Upload gene information
Ellen McDonagh (Genomics England Curator)RPGR was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory
5 Apr 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)RPGR was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
5 Apr 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)RPGR was created by ellenmcdonagh