Renal ciliopathies

Gene: RPGRIP1L

Green List (high evidence)

RPGRIP1L (RPGRIP1 like)
EnsemblGeneIds (GRCh38): ENSG00000103494
EnsemblGeneIds (GRCh37): ENSG00000103494
OMIM: 610937, Gene2Phenotype
RPGRIP1L is in 27 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

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.

Penny Clouston (Oxford)

Green List (high evidence)

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

History Filter Activity

10 Jul 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: RPGRIP1L was added gene: RPGRIP1L was added to Renal ciliopathies. Sources: Other,Expert list,Expert Review Green,Orphanet 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