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Growth failure
Gene: ORC4

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Meier-Gorlin syndrome is characterised by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia, and aplasia or hypoplasia of the patellae.

Multiple families reported.
Created: 18 Aug 2021, 8:12 a.m. | Last Modified: 18 Aug 2021, 8:12 a.m.

Panel Version: 0.190

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meier-Gorlin syndrome 2, MIM# 613800

Publications

Created: 18 Aug 2021, 8:12 a.m.
Last Modified: 18 Aug 2021, 8:12 a.m.
Panel version: 0.190

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Genomics England PanelApp

Phenotypes

Meier-Gorlin syndrome 2, MIM# 613800

OMIM

Clinvar variants

Variants in ORC4

Penetrance

None

Publications

Panels with this gene

History Filter Activity

18 Aug 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).

18 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ORC4 were changed from Meier-Gorlin syndrome 2, 613800; micrognathia, patellar aplasia/hypoplasia, microtia, mammary hypoplasia; Meier-Gorlin to Meier-Gorlin syndrome 2, MIM# 613800

18 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ORC4 were set to 21358632

18 Aug 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).

19 Jul 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ORC4 was added gene: ORC4 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red Mode of inheritance for gene: ORC4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ORC4 were set to 21358632 Phenotypes for gene: ORC4 were set to Meier-Gorlin syndrome 2, 613800; micrognathia, patellar aplasia/hypoplasia, microtia, mammary hypoplasia; Meier-Gorlin