IUGR and IGF abnormalities
Gene: ORC4
ORC4 (origin recognition complex subunit 4)
EnsemblGeneIds (GRCh38): ENSG00000115947
EnsemblGeneIds (GRCh37): ENSG00000115947
OMIM: 603056, Gene2Phenotype
ORC4 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000115947
EnsemblGeneIds (GRCh37): ENSG00000115947
OMIM: 603056, Gene2Phenotype
ORC4 is in 8 panels
3 reviews
Peter Clayton (University of Manchester)
Philip Murray (University of Manchester)
emma baple (Genomics England Curator)
Comment on phenotypes: Meier GorlinCreated: 3 Apr 2016, 8:20 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Meier-Gorlin syndrome 2, OMIM:613800
- micrognathia, patellar aplasia/hypoplasia, microtia, mammary hypoplasia
- OMIM
- 603056
- Clinvar variants
- Variants in ORC4
- Penetrance
- Complete
- Publications
- 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 micrognathia, patellar aplasia/hypoplasia, microtia, mammary hypoplasia to Meier-Gorlin syndrome 2, OMIM:613800; micrognathia, patellar aplasia/hypoplasia, microtia, mammary hypoplasia
3 Apr 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
3 Apr 2016, Gel status: 4
Set Phenotypes
emma baple (Genomics England Curator)Phenotypes for ORC4 were set to micrognathia, patellar aplasia/hypoplasia, microtia, mammary hypoplasia
3 Apr 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
23 Oct 2015, Gel status: 0
Added New Source
Philip Murray (University of Manchester)ORC4 was added to IUGR and IGF abnormalitiespanel. Sources: Literature
23 Oct 2015, Gel status: 0
Created
Philip Murray (University of Manchester)ORC4 was created by PhilMurray