Skeletal dysplasia
Gene: RPGRIP1L
polydactyly-syndactyly-triphalangism SD gp - >3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
COACH syndrome 216360; Joubert syndrome 7 611560; Meckel syndrome 5 611561
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: RPGRIP1L; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.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
Added phenotypes COACH syndrome 216360; Meckel syndrome 5 611561; Joubert syndrome 7 611560 for gene: RPGRIP1L
Source NHS GMS was added to RPGRIP1L. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for RPGRIP1L were set to COACH syndrome 216360; Joubert syndrome 7 611560; Meckel syndrome 5 611561
Mode of inheritance for RPGRIP1L was changed to BIALLELIC, autosomal or pseudoautosomal
RPGRIP1L was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
RPGRIP1L was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory
RPGRIP1L was added to Unexplained skeletal dysplasiapanel. Sources:
RPGRIP1L was created by sleigh