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Limb disorders

Gene: ORC1

Amber List (moderate evidence)

ORC1 (origin recognition complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000085840
EnsemblGeneIds (GRCh37): ENSG00000085840
OMIM: 601902, Gene2Phenotype
ORC1 is in 9 panels

1 review

Eleanor Williams (Genomics England Curator)

Comment when marking as ready: checked by clinical team
Created: 4 Dec 2018, 3:05 p.m.
Genomics England clinical team agree with Amber rating since Meier-Gorlin is a phenotype associated with generalised short stature and microcephaly rather than more focal limb phenotype. It is more likely to be picked up via other panels such as Primary Microcephaly - Microcephalic Dwarfism Spectrum and Unexplained skeletal dysplasia panels.
Created: 4 Dec 2018, 3:05 p.m.
ORC1 is associated with Meier-Gorlin syndrome 1 in OMIM and Gene2Phenotype (confirmed).

> 3 cases of individuals with Meier-Goblin syndrome with short stature (dwarfism) are reported in  Bicknell et al. (2011)(PMID: 21358633),  Bicknell et al. (2011) (PMID: 21358632) and Guernsey et al. (2011) (PMID: 21358631). A variety of homozygous and compound heterozygous mutations in ORC1 were identified.
Created: 6 Nov 2018, 1:58 p.m.
Genomics England clinical team notes - Limb not isolated phenotype (Meier-Gorlin), on appropriate panels
Created: 9 Sep 2018, 5:13 p.m.
Comment on list classification: Rated Amber on advice of Genomics England clinical team.
Created: 9 Sep 2018, 5:10 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Meier-Gorlin syndrome 1
OMIM
601902
Clinvar variants
Variants in ORC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Eleanor Williams: Comment on list classification

4 Dec 2018, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: orc1 has been classified as Amber List (Moderate Evidence).

6 Nov 2018, Gel status: 2

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: ORC1 were set to

9 Sep 2018, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: orc1 has been classified as Amber List (Moderate Evidence).

5 Apr 2018, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

ORC1 was added to Limb disorders panel. Sources: Expert Review Green,UKGTN,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list

5 Apr 2018, Gel status: 4

Created

Ellen McDonagh (Genomics England Curator)

ORC1 was created by Ellen McDonagh