Primary ciliary 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
Ian Berry (Leeds Genetics Laboratory)
Gene should be deleted - causes a primary ciliopathy;PCD is a motile ciliopathy, likely unrelated at a functional level.Created: 8 Dec 2015, 5:33 p.m.
Phenotypes
ciliopathies
Hannah Mitchison (UCL and GOSH)
This is a ciliopathy but not a Primary Ciliary Disorder gene and should be removed from the panelCreated: 8 Dec 2015, 4:25 p.m.
Phenotypes
ciliopathies
Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- ciliopathies
- OMIM
- 610937
- Clinvar variants
- Variants in RPGRIP1L
- Penetrance
- Complete
- Panels with this gene
-
- Ocular coloboma
- Intellectual disability
- Familial Neural Tube Defects
- Childhood onset dystonia, chorea or related movement disorder
- Unexplained kidney failure in young people
- Ductal plate malformation
- DDG2P
- Rare multisystem ciliopathy disorders
- Cholestasis
- Skeletal dysplasia
- Neurological ciliopathies
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Polycystic liver disease
- Limb disorders
- Structural eye disease
- Fetal anomalies
- VACTERL-like phenotypes
- Retinal disorders
- CAKUT
- Ophthalmological ciliopathies
- Cystic kidney disease
- Renal ciliopathies
History Filter Activity
16 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)RPGRIP1L was added to Primary ciliary disorderspanel. Sources: Emory Genetics Laboratory