Cone-rod Dystrophy
Gene: RPGR
RPGR (retinitis pigmentosa GTPase regulator)
EnsemblGeneIds (GRCh38): ENSG00000156313
EnsemblGeneIds (GRCh37): ENSG00000156313
OMIM: 312610, Gene2Phenotype
RPGR is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000156313
EnsemblGeneIds (GRCh37): ENSG00000156313
OMIM: 312610, Gene2Phenotype
RPGR is in 13 panels
0 reviews
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 Green
- Royal Melbourne Hospital
- Phenotypes
-
- Cone-rod dystrophy, X-linked, 1, 304020
- OMIM
- 312610
- Clinvar variants
- Variants in RPGR
- Penetrance
- None
- Publications
- Panels with this gene
-
- Retinitis pigmentosa_Autosomal Recessive/X-linked
- Ciliopathies
- Mackenzie's Mission_Reproductive Carrier Screening
- Skeletal dysplasia
- Additional findings_Paediatric
- Prepair 1000+
- Heterotaxy
- Ciliary Dyskinesia
- Mendeliome
- Cone-rod Dystrophy
- BabyScreen+ newborn screening
- Macular Dystrophy/Stargardt Disease
- Interstitial Lung Disease
History Filter Activity
19 May 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: RPGR was added gene: RPGR was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green 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) Publications for gene: RPGR were set to 30679166 Phenotypes for gene: RPGR were set to Cone-rod dystrophy, X-linked, 1, 304020