Skeletal dysplasia
Gene: ORC4

ORC4 (origin recognition complex subunit 4)
EnsemblGeneIds (GRCh38): ENSG00000115947
EnsemblGeneIds (GRCh37): ENSG00000115947
OMIM: 603056, Gene2Phenotype
ORC4 is in 8 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Patellar dysostoses gp of SD >3 cases; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meier-Gorlin syndrome 2 613800

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

I don't know

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: ORC4; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.

Created: 6 Mar 2019, 11:36 a.m.

Panel version: 1.146

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least three variants reported
Created: 29 Jul 2016, 11:20 a.m.

Created: 29 Jul 2016, 11:20 a.m.

Panel version: 0.1047

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 17 Jun 2016, 8:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ear-patella-short stature syndrome (Meier-Gorlin 2) 613800

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Jun 2016, 8:06 a.m.

Panel version: 0.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green
UKGTN
Expert list
Radboud University Medical Center, Nijmegen

Phenotypes

Meier-Gorlin syndrome 2, OMIM:613800

OMIM

603056

Clinvar variants

Variants in ORC4

Penetrance

Complete

Panels with this gene

History Filter Activity

26 Apr 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ORC4 were changed from Meier-Gorlin syndrome 2 613800; Meier-Gorlin syndrome 2 613800 to Meier-Gorlin syndrome 2, OMIM:613800

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Meier-Gorlin syndrome 2 613800 for gene: ORC4

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to ORC4. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4