Ductal plate malformation
Gene: RPGRIP1LEnsemblGeneIds (GRCh38): ENSG00000103494
EnsemblGeneIds (GRCh37): ENSG00000103494
OMIM: 610937, Gene2Phenotype
RPGRIP1L is in 24 panels
2 reviews
Bill Griffiths (Cambridge University Hospitals)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital hepatic fibrosis
Publications
- PMID: 19574260
Ivone Leong (Genomics England Curator)
Comment when marking as ready: RPGRIP1L is a causative gene of Meckel syndrome and different variants have been reported in this gene associated with this syndrome in 3+ unrelated patients (PMID:17558409, 19574260).Created: 26 Nov 2018, 2:42 p.m.
Comment on list classification: RPGRIP1L is a green gene on the Rare multisystem ciliopathy disorder panel (https://panelapp.genomicsengland.co.uk/panels/150/) It has been promoted from grey to green as it causes both Meckel syndrome (611561) and COACH syndrome (216360), which is considered by some to be a subtype of Joubert syndrome with congenital hepatic fibrosis.Created: 13 Nov 2018, 10:55 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- Phenotypes
-
- Joubert syndrome 7 (611560)
- Meckel syndrome 5 (611561)
- 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
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Ivone Leong: Comment on list classification
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: rpgrip1l has been classified as Green List (High Evidence).
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: RPGRIP1L were set to
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: rpgrip1l has been classified as Green List (High Evidence).
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Removed was added to RPGRIP1L. Rating Changed from Green List (high evidence) to No List (delete)
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: RPGRIP1L was added gene: RPGRIP1L was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RPGRIP1L were set to Joubert syndrome 7 (611560); Meckel syndrome 5 (611561); COACH syndrome (216360)