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Rare multisystem ciliopathy disorders

Gene: RPGR

Red List (low evidence)

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

1 review

Alice Gardham (Genomics England)

Comment when marking as ready: Retinitis pigmentosa not included in this panel
Created: 23 Jan 2017, 4:02 p.m.

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
  • Emory Genetics Laboratory
  • Expert list
OMIM
312610
Clinvar variants
Variants in RPGR
Penetrance
Complete
Panels with this gene

History Filter Activity

26 Jan 2017, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 by Alice Gardham on 26th January 2017

23 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

25 Nov 2016, Gel status: 1

Upload gene information

Ellen McDonagh (Genomics England Curator)

RPGR was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory

5 Apr 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

RPGR was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list

5 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

RPGR was created by ellenmcdonagh