Retinal disorders
Gene: RPGRIP1L
RPGRIP1L (RPGRIP1 like)
EnsemblGeneIds (GRCh38): ENSG00000103494
EnsemblGeneIds (GRCh37): ENSG00000103494
OMIM: 610937, Gene2Phenotype
RPGRIP1L is in 24 panels
EnsemblGeneIds (GRCh38): ENSG00000103494
EnsemblGeneIds (GRCh37): ENSG00000103494
OMIM: 610937, Gene2Phenotype
RPGRIP1L is in 24 panels
2 reviews
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
Ellen McDonagh (Genomics England Curator)
This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.Created: 2 Jun 2016, 8:05 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- COACH syndrome
- Joubert syndrome 7
- Meckel syndrome 5
- Eye Disorders
- OMIM
- 610937
- Clinvar variants
- Variants in RPGRIP1L
- Penetrance
- Complete
- Panels with this gene
-
- VACTERL-like phenotypes
- Ophthalmological ciliopathies
- CAKUT
- Cholestasis
- Renal ciliopathies
- Neurological ciliopathies
- Skeletal dysplasia
- Cystic kidney disease
- Fetal anomalies
- Ocular coloboma
- Polycystic liver disease
- Familial Neural Tube Defects
- Unexplained kidney failure in young people
- Intellectual disability
- Dystonia, chorea or related movement disorder, childhood onset
- Ductal plate malformation
- Limb disorders
- Structural eye disease
- Rare multisystem ciliopathy disorders
- DDG2P
- Glaucoma (developmental)
- Thoracic dystrophies
- Retinal disorders
- Primary ciliary disorders
History Filter Activity
3 Apr 2019, Gel status: 3
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to RPGRIP1L. Rating Changed from Green List (high evidence) to Green List (high evidence)
23 Mar 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
23 Mar 2016, Gel status: 4
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for RPGRIP1L was changed to BIALLELIC, autosomal or pseudoautosomal
9 Mar 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)RPGRIP1L was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
9 Mar 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)RPGRIP1L was created by ellenmcdonagh