Interstitial Lung Disease
Gene: RPGR

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

2 reviews

Suzanna Lindsey-Temple (Liverpool Hospital)

Green List (high evidence)

Agree with other reviewer.
Created: 6 Nov 2021, 6:45 a.m. | Last Modified: 6 Nov 2021, 6:45 a.m.

Panel Version: 0.183

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Primary ciliary dyskinesia, retinal dystrophy, deafness. Childhood bronchiectasis and chILD.

Created: 6 Nov 2021, 6:45 a.m.
Last Modified: 6 Nov 2021, 6:45 a.m.
Panel version: 0.183

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated families reported where males have sinorespiratory infections in addition to RP.
Created: 25 May 2020, 7:30 a.m. | Last Modified: 25 May 2020, 7:30 a.m.

Panel Version: 0.95

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, MIM# 300455

Publications

Created: 25 May 2020, 7:30 a.m.
Last Modified: 25 May 2020, 7:30 a.m.
Panel version: Imported from Ciliary Dyskinesia panel version 0.95

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Green
Victorian Clinical Genetics Services
Victorian Clinical Genetics Services

Phenotypes

Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, MIM# 300455

OMIM

312610

Clinvar variants

Variants in RPGR

Penetrance

None

Publications

Panels with this gene