Primary ciliary disorders
Gene: RPGRComment on mode of inheritance: Changed to X-linked, encoded on chromosome Xp11.4Created: 25 Sep 2017, 9:29 a.m.
Phenotype not clealy relevant to isomerism. See expert review from Hannah Mitchison for rationale for inclusion on PCD panelCreated: 4 Jul 2017, 7:25 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Retinitis pigmentosa 3
Comment on list classification: Discussed in group at GEL and agreed to include due to phenotypic overlapCreated: 10 May 2016, 9:57 a.m.
Gene should be deleted - causes a primary ciliopathy;PCD is a motile ciliopathy, likely unrelated at a functional level.Created: 8 Dec 2015, 5:33 p.m.
Phenotypes
ciliopathies
UK mutations reported. OMIM does not seem to have picked up RPGR as an increasingly important cause of syndromic PCD syndromic cause. It is now clear that RPGR mutations can cause PCD+RP in a number of cases. (HM unpublished data and Bukowy-Bieryllo et al. Pediatr Pulmonol. 2013 Apr;48(4):352-63)Created: 8 Dec 2015, 4:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance for RPGR was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mode of inheritance for RPGR was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
RPGR was added to Primary ciliary disorderspanel. Sources: Emory Genetics Laboratory