This Panel is marked as Deleted
Kidneyome_SuperPanel_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
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Details
- Mode of Inheritance
- Unknown
- Sources
-
- KidGen_CilioNephronop v38.1.0
- Expert Review Green
- OMIM
- 610937
- Clinvar variants
- Variants in RPGRIP1L
- Penetrance
- None
- Panels with this gene
-
- Cystic kidney disease
- Fetal anomalies
- DDG2P
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Polycystic liver disease
- Rare multisystem ciliopathy disorders
- VACTERL-like phenotypes
- Cholestasis
- CAKUT
- Renal ciliopathies
- Ophthalmological ciliopathies
- Ocular coloboma
- Limb disorders
- Structural eye disease
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Neurological ciliopathies
- Retinal disorders
- Familial Neural Tube Defects
- Unexplained kidney failure in young people
- Intellectual disability
- Ductal plate malformation
History Filter Activity
28 Jan 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: RPGRIP1L was added gene: RPGRIP1L was added to Kidneyome_SuperPanel_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0 Mode of inheritance for gene: RPGRIP1L was set to Unknown