Deafness and congenital structural abnormalities
Gene: CDC6Comment on list classification: Green gene on the Bilateral microtia (Version 1.10), Ear malformations with hearing impairment (Version 0.103) and Familial hemifacial microsomia (Version 0.148) gene panels which were combined to create this panel.Created: 14 Oct 2016, 11:08 a.m.
Comment on list classification: Green on the Bilateral Microtia Version 1.10 panel.Created: 12 Sep 2016, 2:17 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#613805:Meier-Gorlin syndrome 5 [Short stature; Birth length less than 3rd percentile; Birth weight less than 3rd percentile; Intrauterine growth retardation (IUGR); Failure to thrive; Microcephaly; Triangular face; Long philtrum; Maxillary hypoplasia; Mandibular hypoplasia; Micrognathia; Microtia, bilateral; Low-set ears; Absent helices, bilaterally; Hypoplastic lobules; Small external auditory meatus; Lips full; Palate cleft, submucous; Teeth small; Shoulder hypermobility; Gastroesophageal reflux in early infancy; Feeding problems in early infancy; Micropenis; Cryptorchidism; Delayed bone age; Prominent metopic suture; Slender long bones; Absent patellae; Elbow hypermobility; Elbow dislocation; Knee hypermobility; Hypoplastic and irregular femoral epiphyses; Hypoplastic and irregular tibial epiphyses; Clinodactyly, fifth fingers; Finger hypermobility; Clinodactyly, fifth toes; Psychomotor retardation, mild]
Publications
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Causes Meier-Gorlin EPS; syndromic features
Publications
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).
This gene has been classified as Green List (High Evidence).
Phenotypes for CDC6 were set to Bilateral Microtia; 613805; Meier-Gorlin syndrome 5, 613805; Neurology panel; Bilateral Microtia, 613805;Causes Meier-Gorlin EPS; syndromic features
Publications for CDC6 were set to 21358632;10629059; 11477602; 12384698; 12384699; 15496876; 16572177; 8990175; 9520412; 9566895
CDC6 was added to Deafness and congenital structural abnormalitiespanel. Source: Illumina TruGenome Clinical Sequencing Services CDC6 was added to Deafness and congenital structural abnormalitiespanel. Source: Radboud University Medical Center, Nijmegen CDC6 was added to Deafness and congenital structural abnormalitiespanel. Source: Emory Genetics Laboratory
CDC6 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Green
CDC6 was created by sleigh