This Panel is marked as Internal
Joubert syndrome
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
Penny Clouston (Oxford)
On current diagnostic panel; positive families within patient cohort. Evidence in literature.Created: 16 Mar 2016, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome; COACH syndrome; Meckel-Gruber syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- Joubert syndrome
- COACH syndrome
- Meckel-Gruber syndrome
- OMIM
- 610937
- Clinvar variants
- Variants in RPGRIP1L
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Ocular coloboma
- Cholestasis
- Familial Neural Tube Defects
- Structural eye disease
- Retinal disorders
- Unexplained kidney failure in young people
- Ductal plate malformation
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
- Cystic kidney disease
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Polycystic liver disease
- Fetal anomalies
- VACTERL-like phenotypes
- Skeletal dysplasia
- Ophthalmological ciliopathies
- Neurological ciliopathies
- Limb disorders
- CAKUT
- Intellectual disability
- DDG2P
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
17 Nov 2016, Gel status: 0
Approved Gene
Alice Gardham (Genomics England)This proposed gene was validated and added to this panel
16 Mar 2016, Gel status: 0
Created
Penny Clouston (Oxford)RPGRIP1L was created by PennyC
16 Mar 2016, Gel status: 0
Added New Source
Penny Clouston (Oxford)RPGRIP1L was added to Joubert syndromepanel. Sources: Expert Review