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Mendeliome

Gene: ORC1

Green List (high evidence)

ORC1 (origin recognition complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000085840
EnsemblGeneIds (GRCh37): ENSG00000085840
OMIM: 601902, Gene2Phenotype
ORC1 is in 10 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, 8:07 a.m. | Last Modified: 18 Aug 2021, 8:07 a.m.
Panel Version: 0.8868

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meier-Gorlin syndrome 1, MIM# 224690; MONDO:0009143

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Meier-Gorlin syndrome 1, MIM# 224690
  • MONDO:0009143
OMIM
601902
Clinvar variants
Variants in ORC1
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: orc1 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: ORC1 were changed from to Meier-Gorlin syndrome 1, MIM# 224690; MONDO:0009143

18 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ORC1 were set to

18 Aug 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ORC1 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: ORC1 was added gene: ORC1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ORC1 was set to Unknown