Heterotaxy
Gene: RPGREnsemblGeneIds (GRCh38): ENSG00000156313
EnsemblGeneIds (GRCh37): ENSG00000156313
OMIM: 312610, Gene2Phenotype
RPGR is in 13 panels
1 review
Crystle Lee (Victorian Clinical Genetics Services)
No indication of situs invertus/heterotaxy in OMIM for the conditions associated with this gene.
PMID: 26093275: Review article. No indication of heterotaxy features.
PMID: 31775781: No indication of heterotaxy in 2 families reported.Created: 27 May 2020, 12:56 a.m. | Last Modified: 27 May 2020, 12:56 a.m.
Panel Version: 0.51
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Retinitis pigmentosa 3 (MIM#300029)
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- Retinitis pigmentosa 3 (MIM#300029)
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rpgr has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: RPGR were changed from to Retinitis pigmentosa 3 (MIM#300029)
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: RPGR were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: RPGR was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rpgr has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: RPGR was added gene: RPGR was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RPGR was set to Unknown