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Hearing loss

Gene: RPGR

Red List (low evidence)

RPGR (retinitis pigmentosa GTPase regulator)
EnsemblGeneIds (GRCh38): ENSG00000156313
EnsemblGeneIds (GRCh37): ENSG00000156313
OMIM: 312610, Gene2Phenotype
RPGR is in 12 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)

I don't know

Covered under eyes, specialist test Manchester to offer
Created: 17 Feb 2019, 4:35 p.m.

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

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)

Red List (low evidence)

Inheritance:X-linked
Created: 9 Feb 2016, 10:05 a.m.
Inheritance:X-linked Inheritance:X-linked
Created: 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

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
Panels with this gene

History Filter Activity

23 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

23 Feb 2016, Gel status: 1

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

23 Feb 2016, Gel status: 1

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

23 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

23 Feb 2016, Gel status: 2

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)

24 Jun 2015, Gel status: 2

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

24 Jun 2015, Gel status: 1

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