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Rare multisystem ciliopathy disorders

Gene: RPGRIP1

Red List (low evidence)
RPGRIP1 (RPGR interacting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000092200
EnsemblGeneIds (GRCh37): ENSG00000092200
OMIM: 605446, Gene2Phenotype
RPGRIP1 is in 11 panels

1 review

Alice Gardham (Genomics England)

Comment when marking as ready: retinitis pigmentosa and Leber's congenital amaurosis are not included on this panel
Created: 23 Jan 2017, 4:47 p.m.
Created: 23 Jan 2017, 4:47 p.m.

Panel version: 0.432

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

Added New Source

Ellen McDonagh (Genomics England Curator)

RPGRIP1 was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet

25 Nov 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RPGRIP1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory

25 Nov 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

RPGRIP1 was created by ellenmcdonagh