Neurological ciliopathiesGene: RPGRIP1L
Comment 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
Joubert syndrome; COACH syndrome; Meckel-Gruber syndrome
Variants in this GENE are reported as part of current diagnostic practice
gene: RPGRIP1L was added gene: RPGRIP1L was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RPGRIP1L were set to 17558409; 17558407; 19574260 Phenotypes for gene: RPGRIP1L were set to Joubert syndrome 7; Meckel syndrome 5; Joubert syndrome; Meckel syndrome; Meckel-Gruber syndrome