This Panel is marked as Deleted
Polydactyly Victorian Clinical Genetics Services
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
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 610937
- Clinvar variants
- Variants in RPGRIP1L
- Penetrance
- None
- Panels with this gene
-
- VACTERL-like phenotypes
- Ophthalmological ciliopathies
- Neurological ciliopathies
- CAKUT
- Retinal disorders
- DDG2P
- Structural eye disease
- Limb disorders
- Ocular coloboma
- Cholestasis
- Intellectual disability
- Familial Neural Tube Defects
- Fetal anomalies
- Unexplained kidney failure in young people
- Ductal plate malformation
- Skeletal dysplasia
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
- Cystic kidney disease
- Childhood onset dystonia, chorea or related movement disorder
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Polycystic liver disease
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)RPGRIP1L was added to Polydactyly Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)RPGRIP1L was created by Sarah Leigh