Ocular coloboma
Gene: RPGRIP1LEnsemblGeneIds (GRCh38): ENSG00000103494
EnsemblGeneIds (GRCh37): ENSG00000103494
OMIM: 610937, Gene2Phenotype
RPGRIP1L is in 24 panels
2 reviews
Alice Gardham (Genomics England)
Coloboma seen in around 40% of individuals with COACHCreated: 17 Nov 2016, 2:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
COACH syndrome, 216360
Publications
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
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Emory Genetics Laboratory
- Literature
- Phenotypes
-
- COACH syndrome, 216360
- OMIM
- 610937
- Clinvar variants
- Variants in RPGRIP1L
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Rare multisystem ciliopathy disorders
- VACTERL-like phenotypes
- CAKUT
- Intellectual disability
- Ophthalmological ciliopathies
- Ocular coloboma
- Cystic kidney disease
- Fetal anomalies
- Structural eye disease
- Renal ciliopathies
- Familial Neural Tube Defects
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Unexplained kidney failure in young people
- Ductal plate malformation
- Limb disorders
- DDG2P
- Retinal disorders
- Neurological ciliopathies
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Polycystic liver disease
- Cholestasis
History Filter Activity
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on 6th February 2016 by Alice Gardham
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Created
Alice Gardham (Genomics England)RPGRIP1L was created by agardham
Added New Source
Alice Gardham (Genomics England)RPGRIP1L was added to Ocular colobomapanel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Literature