Monogenic hearing loss
Gene: RPGRAfter review with the NHS GMS hearing specialist group on 2019-02-13 it was decided to keep this gene red.Created: 27 Feb 2019, 10:34 a.m.
Covered under eyes, specialist test Manchester to offerCreated: 17 Feb 2019, 4:35 p.m.
Comment on list classification: Both reviewers agree this should be demoted from amber to red. There seems to be a strong association between mutations in this gene and X-linked retinitis pigmentosa, which can be part of syndromic conditions that may include hearing loss.Created: 23 Feb 2016, 11:33 a.m.
Inheritance:X-linkedCreated: 9 Feb 2016, 10:05 a.m.
Inheritance:X-linked Inheritance:X-linkedCreated: 7 Feb 2016, 8:54 a.m.
Mode of inheritance
Other
Phenotypes
#300029:Retinitis pigmentosa 3[<omim version=1.0><clinicalSynopsisList>]; #300455:Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness[<omim version=1.0><clinicalSynopsisList>]; #300834:Macular degeneration, X-linked atrophic[<omim version=1.0><clinicalSynopsisList>]; #304020:Cone-rod dystrophy, X-linked, 1[Cone dysfunction; Photophobia; Fine nystagmus; Reduced visual acuity; Type I color vision defect; Myopia; Diminished visual acuity and myopia in heterozygous females; Disturbed cone ERG; Progressive macular scarring]
Publications
This gene has been classified as Red List (Low Evidence).
Phenotypes for RPGR were set to Retinitis pigmentosa 3, 300029; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455; Macular degeneration, X-linked atrophic, 300834; Cone-rod dystrophy, X-linked, 1, 304020
Publications for RPGR were set to PMID: 10094550; 10401007; 10482958; 10699176; 10725384; 10932196; 10958647; 10958648; 10970770; 11702207; 11754050; 11857109; 11875055; 11950860; 11968081; 11978759; 11992260; 12140192; 12160730; 12657579; 12766038; 12920075; 14564670; 14627685; 14691151; 15671266; 15772089; 15914600; 16043481; 16055928; 16387007; 16565408; 16969763; 17195164; 17320077; 17325176; 1733835; 17405150; 17480003; 19815619; 19955120; 20631154; 23150612; 24043777; 7611300; 8673101; 8817343; 9326322; 9350809; 9399904; 9488274; 9855162
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for RPGR was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
RPGR was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen
RPGR was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen