Deafness and congenital structural abnormalities
Gene: ORC6Comment when marking as ready: Associated with phenotype in OMIM and G2P / DD. At least five variants reported four as compound heterozygotes and one as a homozygote. Functional studies in Drosophila support role of this gene in Meier-Gorlin syndrome. Two green expert reviews in Bilateral Microtia panelCreated: 19 Sep 2016, 9:16 a.m.
Comment on publications: Drosophila functional studies reported in PMID 26139588Created: 19 Sep 2016, 9:12 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Meier-Gorlin syndrome 3
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
#613803:Meier-Gorlin syndrome 3 [Short stature; Birth length less than 3rd percentile; Birth weight less than 3rd percentile; Failure to thrive; Intrauterine growth retardation (IUGR); Microcephaly; Triangular face; Maxillary hypoplasia; Mandibular hypoplasia; Microretrognathia; Microtia, bilateral; Ears abnormally formed; Full lips; Small mouth; Pulmonary infections, recurrent; Dyspnea secondary to thorax morphology; Narrow chest; Short thorax; Short ribs; Lack of sternal ossification; Breast hypoplasia; Feeding problems in early infancy; Cryptorchidism; Hypoplastic scrotum; Hypertrophic clitoris; Delayed bone age; Frontal circular lacuna; Slender long bones; Abnormal humeral epiphyses with flat metaphyses; Abnormal femoral epiphyses with flat metaphyses; Abnormal tibial epiphyses; Coxa vara; Absent or hypoplastic patellae; Genu varum; Clinodactyly, fifth finger]
Publications
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meier-Gorlin EPS; causes syndromic features
Publications
Phenotypes for gene: ORC6 were changed from Bilateral Microtia; 613803; Meier-Gorlin EPS; causes syndromic features; Meier-Gorlin syndrome 3 to Meier-Gorlin syndrome 3, OMIM:613803; 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 ORC6 were set to 10945994; 12169736; 21358632; 7710253
ORC6 was added to Deafness and congenital structural abnormalitiespanel. Source: Emory Genetics Laboratory ORC6 was added to Deafness and congenital structural abnormalitiespanel. Source: Illumina TruGenome Clinical Sequencing Services ORC6 was added to Deafness and congenital structural abnormalitiespanel. Source: Radboud University Medical Center, Nijmegen ORC6 was added to Deafness and congenital structural abnormalitiespanel. Source: UKGTN
ORC6 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Green
ORC6 was created by sleigh