Deafness and congenital structural abnormalities

Gene: ORC1

Green List (high evidence)

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

5 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P / DD. At least seven variants reported.
Created: 15 Sep 2016, 2:42 p.m.

Ana Beleza (Bristol Regional Genetics Service)

I don't know

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Meier-Gorlin syndrome 1

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, 2:40 p.m.

Jun Shen (Harvard Medical School)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#224690:Meier-Gorlin syndrome 1 [Short stature; Birth length less than 3rd percentile; Birth weight less than 3rd percentile; Failure to thrive; Intrauterine growth retardation; Microcephaly; Small anterior fontanelle; Micrognathia; Maxillary hypoplasia; Mandibular hypoplasia; Frontal bossing; Bilateral microtia; Hearing loss; Mondini malformation; Low-set ears; Atretic auditory canal; Strabismus; Long eyelashes; Short palpebral fissures; Small mouth; Full lips; Cleft palate; High-arched palate; Small teeth; Respiratory distress (neonate); Emphysema, congenital (in some patients); Chest asymmetry; Pectus carinatum; Lack of sternal ossification; Slender ribs; Flat or absent glenoid fossae; Hooked clavicles; Short ribs; Breast hypoplasia; Feeding problems; Gastroesophageal reflux; Shawl scrotum; Micropenis; Clitoromegaly; Hypoplastic labia minora; Hypoplastic labia majora; Cryptorchidism; Delayed bone age; Joint laxity; Joint contractures; Hemivertebrae; Blount osteochondritis dissecans; Aseptic femoral necrosis; Coxa valga/vara; Aplastic or hypoplastic patellae; Elbow dislocation; Epiphyseal flattening; Slender long bones; Genu valgum or genu varum; Fifth finger clinodactyly; Small hands; Camptodactyly; Cutaneous syndactyly (2nd-3rd, 4th-5th); Talipes equinovarus; Thin skin; Prominent vasculature (nose and forehead); Hyperconvex nails; Long eyelashes; Mental retardation; Breech presentation]

Publications

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meier Gorlin EPS; causes microtia and syndromic features

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Bilateral Microtia
  • 224690
  • Meier Gorlin EPS
  • causes microtia and syndromic features
  • Meier-Gorlin syndrome 1
OMIM
601902
Clinvar variants
Variants in ORC1
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 ORC1 were set to 21358632;11477602; 11931757; 14564153; 17761879; 17761880; 19197067; 21358631; 21358632; 21358633; 22398447; 7502077; 819054; 8884289; 8943353

5 Oct 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

ORC1 was added to Deafness and congenital structural abnormalitiespanel. Source: Illumina TruGenome Clinical Sequencing Services ORC1 was added to Deafness and congenital structural abnormalitiespanel. Source: Radboud University Medical Center, Nijmegen ORC1 was added to Deafness and congenital structural abnormalitiespanel. Source: UKGTN

5 Oct 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

ORC1 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)

ORC1 was created by sleigh