Limb disorders
Gene: RPGRIP1LComment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded.Created: 2 Dec 2018, 11:09 p.m.
Comment when marking as ready: Associated with phenotypes in G2P. Numerous variants reported in these phenotypes.Created: 12 Jul 2016, 12:09 p.m.
Tier 2Created: 17 Jun 2016, 8:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
COACH syndrome 216360; Joubert syndrome 7 611560; Meckel syndrome 5 611561
Variants in this GENE are reported as part of current diagnostic practice
Tag curated_removed tag was added to gene: RPGRIP1L.
Ana Beleza: Tier 2
Gene: rpgrip1l has been removed from the panel.
Gene: rpgrip1l has been removed from the panel.
Source Expert Review Removed was added to RPGRIP1L. Rating Changed from Green List (high evidence) to No List (delete)
Victorian Clinical Genetics Services was added to RPGRIP1L. Panel: Limb disorders Phenotypes for gene RPGRIP1L were set to COACH syndrome 216360, Joubert syndrome 7 611560, Meckel syndrome 5 611561, Polydactyly
Expert Review Green was added to RPGRIP1L. Panel: Limb disorders UKGTN was added to RPGRIP1L. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to RPGRIP1L. Panel: Limb disorders Illumina TruGenome Clinical Sequencing Services was added to RPGRIP1L. Panel: Limb disorders Expert list was added to RPGRIP1L. Panel: Limb disorders Emory Genetics Laboratory was added to RPGRIP1L. Panel: Limb disorders Model of inheritance for gene RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal
London South East RGC GSTT was added to RPGRIP1L. Panel: Limb disorders
RPGRIP1L was added to Limb disorders panel. Sources: Viapath
RPGRIP1L was created by Ellen McDonagh