Skeletal dysplasia
Gene: RPGR

RPGR (retinitis pigmentosa GTPase regulator)
EnsemblGeneIds (GRCh38): ENSG00000156313
EnsemblGeneIds (GRCh37): ENSG00000156313
OMIM: 312610, Gene2Phenotype
RPGR is in 13 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Ciliary protein, localizes to the sensory cilium of photoreceptors. Reported in multiple XLRP families and accounts for up to 20% of RP patients.
Review article (PMID: 26093275)
Created: 20 May 2020, 1:51 a.m. | Last Modified: 20 May 2020, 1:51 a.m.

Panel Version: 0.161

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

Created: 20 May 2020, 1:51 a.m.
Last Modified: 20 May 2020, 1:51 a.m.
Panel version: Imported from Mendeliome panel version Imported from Ciliopathies panel version 0.161

Details

Sources

Emory Genetics Laboratory

OMIM

312610

Clinvar variants

Variants in RPGR

Penetrance

None

Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 1

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 Skeletal dysplasia. Sources: Emory Genetics Laboratory Mode of inheritance for gene: RPGR was set to

Skeletal dysplasia Gene: RPGR