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Gene: ORC6

Green List (high evidence)

ORC6 (origin recognition complex subunit 6)
EnsemblGeneIds (GRCh38): ENSG00000091651
EnsemblGeneIds (GRCh37): ENSG00000091651
OMIM: 607213, Gene2Phenotype
ORC6 is in 10 panels

1 review

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

Meier-Gorlin syndrome (ear, patella and short-stature syndrome) is an autosomal recessive primordial dwarfism syndrome characterized by absent or hypoplastic patellae and markedly small ears. Both pre- and post-natal growth are impaired in this disorder (PMID: 21358632).

There is variable severity, and null mutations have been associated with the more severe end of the spectrum (PMID: 25691413). No homozygous or compound heterozygous null mutations have been identified previously in ORC6 according to PMID: 25691413, which suggest the combination may be lethal.
Created: 16 Jan 2025, 6:27 a.m. | Last Modified: 16 Jan 2025, 6:27 a.m.
Panel Version: 1.1039

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meier-Gorlin syndrome 3 MIM#613803

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Meier-Gorlin syndrome 3, 613803 (3)
OMIM
607213
Clinvar variants
Variants in ORC6
Penetrance
None
Panels with this gene

History Filter Activity

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ORC6 was added gene: ORC6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ORC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ORC6 were set to Meier-Gorlin syndrome 3, 613803 (3)