Deafness and congenital structural abnormalities
Gene: ORC1Comment 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.
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
Comment on list classification: Green on the Bilateral Microtia Version 1.10 panel.Created: 12 Sep 2016, 2:40 p.m.
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
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
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.
This gene has been classified as Green List (High Evidence).
Publications for ORC1 were set to 21358632;11477602; 11931757; 14564153; 17761879; 17761880; 19197067; 21358631; 21358632; 21358633; 22398447; 7502077; 819054; 8884289; 8943353
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
ORC1 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Green
ORC1 was created by sleigh