Deafness and congenital structural abnormalities
Gene: ORC4Comment 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 panelCreated: 19 Sep 2016, 9:26 a.m.
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
Comment on list classification: Green on the Bilateral Microtia Version 1.10 panel.Created: 12 Sep 2016, 2:41 p.m.
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
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meier-Gorlin EPS; causes syndromic features
Publications
Phenotypes for gene: ORC4 were changed from Bilateral Microtia; 613800; Meier-Gorlin EPS; causes syndromic features to Meier-Gorlin syndrome 2, OMIM:613800; Bilateral Microtia
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 ORC4 were set to 21358631;11477602; 21358632; 9353276; 9691185
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
ORC4 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Green
ORC4 was created by sleigh