Polycystic liver disease
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
Ivone Leong (Genomics England Curator)
Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that this gene is not relevant for this panel as it is associated with COACH syndrome. Therefore, this gene has been given a red rating.Created: 12 Mar 2019, 1:36 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- NHS GMS
- Phenotypes
-
- COACH syndrome (216360)
- Joubert syndrome 7 (611560)
- Meckel syndrome 5 (611561)
- OMIM
- 610937
- Clinvar variants
- Variants in RPGRIP1L
- Penetrance
- None
- Publications
- Panels with this gene
-
- Ductal plate malformation
- Neurological ciliopathies
- Cystic kidney disease
- Structural eye disease
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Polycystic liver disease
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
- CAKUT
- VACTERL-like phenotypes
- Cholestasis
- Renal ciliopathies
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Limb disorders
- DDG2P
- Ocular coloboma
- Intellectual disability
- Retinal disorders
- Familial Neural Tube Defects
History Filter Activity
12 Mar 2019, Gel status: 1
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: rpgrip1l has been classified as Red List (Low Evidence).
12 Mar 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: RPGRIP1L was added gene: RPGRIP1L was added to Polycystic liver disease interim. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RPGRIP1L were set to 19574260; 17558409 Phenotypes for gene: RPGRIP1L were set to COACH syndrome (216360); Joubert syndrome 7 (611560); Meckel syndrome 5 (611561)