Deafness and congenital structural abnormalities

Gene: CDC6

Green List (high evidence)

CDC6 (cell division cycle 6)
EnsemblGeneIds (GRCh38): ENSG00000094804
EnsemblGeneIds (GRCh37): ENSG00000094804
OMIM: 602627, Gene2Phenotype
CDC6 is in 8 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment 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.

Jun Shen (Harvard Medical School)

Green List (high evidence)

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

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Causes Meier-Gorlin EPS; syndromic features

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Bilateral Microtia
  • 613805
  • Meier-Gorlin syndrome 5, 613805
  • Neurology panel
  • Bilateral Microtia, 613805
  • Causes Meier-Gorlin EPS
  • syndromic features
OMIM
602627
Clinvar variants
Variants in CDC6
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

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 Phenotypes

Ellen McDonagh (Genomics England Curator)

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

14 Oct 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for CDC6 were set to 21358632;10629059; 11477602; 12384698; 12384699; 15496876; 16572177; 8990175; 9520412; 9566895

5 Oct 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

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

5 Oct 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

CDC6 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)

CDC6 was created by sleigh