IUGR and IGF abnormalities
Gene: ORC1EnsemblGeneIds (GRCh38): ENSG00000085840
EnsemblGeneIds (GRCh37): ENSG00000085840
OMIM: 601902, Gene2Phenotype
ORC1 is in 9 panels
3 reviews
Peter Clayton (University of Manchester)
Philip Murray (University of Manchester)
emma baple (Genomics England Curator)
Comment on phenotypes: Meier Gorlin syndromeCreated: 3 Apr 2016, 8:20 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Meier-Gorlin syndrome 1, OMIM:224690
- microtia, beaked nose, patellar aplasia/hypoplasia, mammary hypoplasia, micrognathia
- OMIM
- 601902
- Clinvar variants
- Variants in ORC1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ORC1 were changed from microtia, beaked nose, patellar aplasia/hypoplasia, mammary hypoplasia, micrognathia to Meier-Gorlin syndrome 1, OMIM:224690; microtia, beaked nose, patellar aplasia/hypoplasia, mammary hypoplasia, micrognathia
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
emma baple (Genomics England Curator)Phenotypes for ORC1 were set to microtia, beaked nose, patellar aplasia/hypoplasia, mammary hypoplasia, micrognathia
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Philip Murray (University of Manchester)ORC1 was added to IUGR and IGF abnormalitiespanel. Sources: Literature
Created
Philip Murray (University of Manchester)ORC1 was created by PhilMurray