Monogenic hearing loss
Gene: RPGREnsemblGeneIds (GRCh38): ENSG00000156313
EnsemblGeneIds (GRCh37): ENSG00000156313
OMIM: 312610, Gene2Phenotype
RPGR is in 11 panels
5 reviews
Eleanor Williams (Genomics England Curator)
After 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.
Emma Ashton (Great Ormond Street Hospital)
Covered under eyes, specialist test Manchester to offerCreated: 17 Feb 2019, 4:35 p.m.
Maria Bitner-Glindzicz (UCL)
Ellen McDonagh (Genomics England Curator)
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.
Jun Shen (Harvard Medical School)
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
- 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
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- 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
- OMIM
- 312610
- Clinvar variants
- Variants in RPGR
- Penetrance
- Complete
- Publications
-
- 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
- Panels with this gene
-
- Respiratory ciliopathies including non-CF bronchiectasis
- Ophthalmological ciliopathies
- Intellectual disability
- Skeletal dysplasia
- Monogenic hearing loss
- Structural eye disease
- Retinal disorders
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)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
Set publications
Ellen McDonagh (Genomics England Curator)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
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)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)
Added New Source
Ellen McDonagh (Genomics England Curator)RPGR was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)RPGR was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen