Ductal plate malformation
Gene: RPGRIP1L
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital hepatic fibrosis
Publications
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.
Ivone Leong: Comment on list classification
Gene: rpgrip1l has been classified as Green List (High Evidence).
Publications for gene: RPGRIP1L were set to
Gene: rpgrip1l has been classified as Green List (High Evidence).
Source Expert Review Removed was added to RPGRIP1L. Rating Changed from Green List (high evidence) to No List (delete)
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)