This Panel is marked as Deleted
Kidneyome_SuperPanel_KidGen_VCGS
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
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- KidGen_CilioNephronop v38.1.0
- OMIM
- 610937
- Clinvar variants
- Variants in RPGRIP1L
- Penetrance
- None
- 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
23 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: RPGRIP1L was added gene: RPGRIP1L was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green Mode of inheritance for gene: RPGRIP1L was set to Unknown