Deafness and congenital structural abnormalities

Gene: ORC4

Green List (high evidence)

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

5 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P / DD. At least five variants reported, two green expert reviews on the Bilateral Microtia panel
Created: 19 Sep 2016, 9:26 a.m.

Ana Beleza (Bristol Regional Genetics Service)

I don't know

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Meier-Gorlin syndrome 2

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Green on the Bilateral Microtia Version 1.10 panel.
Created: 12 Sep 2016, 2:41 p.m.

Jun Shen (Harvard Medical School)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#613800:Meier-Gorlin syndrome 2 [Short stature; Birth length less than 3rd percentile; Birth weight less than 3rd percentile; Failure to thrive; Intrauterine growth retardation (IUGR); Microcephaly; Dolichocephaly; Flat philtrum; Micrognathia; Mandibular hypoplasia; Microtia, bilateral; Simple ears; Small external auditory meatus; Hypoplastic nasal alae (slight); Small mouth; Respiratory problems; Tracheomalacia; Bronchomalacia; Breast hypoplasia; Feeding problems in early infancy; Gastroesophageal reflux; Hypoplastic labia majora, mild; Clitoromegaly; Delayed bone age; Slender long bones; Absent or hypoplastic patellae (in some patients); Hyperextensible joints, especially elbows and knees; Camptodactyly, distal interphalangeal, of second, third, and fourth fingers; Camptodactyly, proximal interphalangeal, of fifth fingers; High-pitched voice]

Publications

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meier-Gorlin EPS; causes syndromic features

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Bilateral Microtia
  • 613800
  • Meier-Gorlin EPS
  • causes syndromic features
OMIM
603056
Clinvar variants
Variants in ORC4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

26th Oct 2016: the panels Bilateral microtia version 1.10, Ear malformations with hearing impairment version 0.105, and familial hemifacial microsomia version 0.149 gene panels were combined to create this panel. The panel was revised due to expert review, further curation of evidence and internal clinical evaluation. Ready for promotion to version 1.

14 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Oct 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ORC4 were set to 21358631;11477602; 21358632; 9353276; 9691185

5 Oct 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

ORC4 was added to Deafness and congenital structural abnormalitiespanel. Source: Emory Genetics Laboratory ORC4 was added to Deafness and congenital structural abnormalitiespanel. Source: Radboud University Medical Center, Nijmegen ORC4 was added to Deafness and congenital structural abnormalitiespanel. Source: UKGTN

5 Oct 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

ORC4 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Green

5 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

ORC4 was created by sleigh