Skeletal dysplasia
Gene: ORC1
Patellar dysostoses gp of SD - >3 cases, de novo truncating mutations in exon 18. SBBYSS has overlapping clinical features - also mostly exon 18 truncations.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meier-Gorlin syndrome 1 224690
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: ORC1; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 29 Jul 2016, 11:16 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 1) 224690
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Meier-Gorlin syndrome 1 224690 for gene: ORC1
Source NHS GMS was added to ORC1. 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 ORC1 were set to Meier-Gorlin syndrome 1 224690
Mode of inheritance for ORC1 was changed to BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for ORC1 was changed to BIALLELIC, autosomal or pseudoautosomal
ORC1 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
ORC1 was added to Unexplained skeletal dysplasiapanel. Sources:
ORC1 was created by sleigh