Structural eye disease
Gene: RPGRIP1LEnsemblGeneIds (GRCh38): ENSG00000103494
EnsemblGeneIds (GRCh37): ENSG00000103494
OMIM: 610937, Gene2Phenotype
RPGRIP1L is in 24 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
Delous et al. 2007 reported two unrelated cases with Meckel syndrome and anophthalmia, and demonstrated that null mice had absent or small eyesCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
COACH syndrome, 216360
Publications
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Delous et al. 2007 reported two unrelated cases with Meckel syndrome and anophthalmia, and demonstrated that null mice had absent or small eyesCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
COACH syndrome, 216360
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- COACH syndrome, 216360
- OMIM
- 610937
- Clinvar variants
- Variants in RPGRIP1L
- Penetrance
- None
- Publications
- 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
- Childhood onset dystonia, chorea or related movement disorder
- Ocular coloboma
- Limb disorders
- Structural eye disease
- Skeletal dysplasia
- Neurological ciliopathies
- Retinal disorders
- Familial Neural Tube Defects
- Unexplained kidney failure in young people
- Intellectual disability
- Ductal plate malformation
History Filter Activity
Added New Source, Set Phenotypes
Ivone Leong (Genomics England Curator)Source NHS GMS was added to RPGRIP1L. Added phenotypes COACH syndrome, 216360 for gene: RPGRIP1L
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: RPGRIP1L was added gene: RPGRIP1L was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RPGRIP1L were set to 19574260 Phenotypes for gene: RPGRIP1L were set to COACH syndrome, 216360