VACTERL-like phenotypes
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
1 review
Muriel Holder (Clinical Genetics, Guy's Hospital)
Details
- Sources
-
- Emory Genetics Laboratory
- OMIM
- 610937
- Clinvar variants
- Variants in RPGRIP1L
- Penetrance
- Complete
- Panels with this gene
-
- Ductal plate malformation
- Neurological ciliopathies
- Cystic kidney disease
- Renal ciliopathies
- Limb disorders
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Polycystic liver disease
- Fetal anomalies
- Rare multisystem ciliopathy disorders
- CAKUT
- VACTERL-like phenotypes
- Cholestasis
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Skeletal dysplasia
- Retinal disorders
- Ocular coloboma
- Structural eye disease
- Familial Neural Tube Defects
History Filter Activity
28 Apr 2015, Gel status: 1
Added New Source
GEL ()RPGRIP1L was added to VACTERL-like phenotypepanel. Sources: Emory Genetics Laboratory