Ophthalmological ciliopathies
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
- Expert list
- Emory Genetics Laboratory
- OMIM
- 312610
- Clinvar variants
- Variants in RPGR
- Penetrance
- None
- 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
8 Jul 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: RPGR was added gene: RPGR was added to Ophthalmological ciliopathies. Sources: Emory Genetics Laboratory,Expert list,Expert Review Red Mode of inheritance for gene: RPGR was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)