Rare multisystem ciliopathy disorders
Gene: RPGRIP1LComment on list classification: Promoted from red to green due to expert review and >3 unrelated cases in OMIM and different variants reported for Joubert syndrome 7. 3 cases reported for Meckel syndrome 5.
Created: 28 Aug 2016, 7:44 a.m.
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
Promoted to version 1 by Alice Gardham on 26th January 2017
RPGRIP1L was added to Rare multisystem ciliopathy disorderspanel. Source: Other
RPGRIP1L was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet
This gene has been classified as Green List (High Evidence).
Phenotypes for RPGRIP1L were set to Joubert syndrome; Meckel-Gruber syndrome;Joubert syndrome 7;Meckel syndrome 5
Phenotypes for RPGRIP1L were set to Joubert syndrome; Meckel-Gruber syndrome
Publications for RPGRIP1L were set to 17558407; 17558409; 19574260
This gene has been classified as Green List (High Evidence).
RPGRIP1L was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
RPGRIP1L was created by ellenmcdonagh