Microcephaly
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
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association, microcephaly is a feature.Created: 31 Mar 2021, 6:40 a.m. | Last Modified: 31 Mar 2021, 6:40 a.m.
Panel Version: 0.589
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meier-Gorlin syndrome 2, MIM# 613800; MONDO:0013428
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Meier-Gorlin syndrome 2, MIM# 613800
- MONDO:0013428
- OMIM
- 603056
- Clinvar variants
- Variants in ORC4
- Penetrance
- None
- Panels with this gene
History Filter Activity
31 Mar 2021, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: orc4 has been classified as Green List (High Evidence).
31 Mar 2021, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ORC4 were changed from to Meier-Gorlin syndrome 2, MIM# 613800; MONDO:0013428
31 Mar 2021, Gel status: 3
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: ORC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ORC4 was added gene: ORC4 was added to Microcephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ORC4 was set to Unknown