Skeletal dysplasia
Gene: ORC6
Patellar dysostoses gp of SD >3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meier-Gorlin syndrome 3 613803
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: ORC6; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least two variants reportedCreated: 29 Jul 2016, 11:30 a.m.
Tier 2Created: 17 Jun 2016, 8:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ear-patella-short stature syndrome (Meier-Gorlin 3) 613803
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Meier-Gorlin syndrome 3 613803 for gene: ORC6
Source NHS GMS was added to ORC6. 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 ORC6 were set to Meier-Gorlin syndrome 3 613803
Mode of inheritance for ORC6 was changed to BIALLELIC, autosomal or pseudoautosomal
ORC6 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
ORC6 was added to Unexplained skeletal dysplasiapanel. Sources:
ORC6 was created by sleigh