Deafness and congenital structural abnormalities
Gene: CDC6

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.

Created: 12 Sep 2016, 2:17 p.m.

Panel version: Imported from "Ear malformations with hearing impairment" panel version 0.21

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

Created: 9 Feb 2016, 4:56 p.m.

Panel version: Imported from "Bilateral microtia" panel version 1.0

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Causes Meier-Gorlin EPS; syndromic features

Publications

21358632

Created: 3 Feb 2016, 4:10 p.m.

Panel version: Imported from "Bilateral microtia" panel version 0.0

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

Meier-Gorlin syndrome 5, OMIM:613805
Bilateral Microtia

OMIM

602627

Clinvar variants

Variants in CDC6

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

24 Apr 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CDC6 were changed from Bilateral Microtia; 613805; Meier-Gorlin syndrome 5, 613805; Neurology panel; Bilateral Microtia, 613805; Causes Meier-Gorlin EPS; syndromic features to Meier-Gorlin syndrome 5, OMIM:613805; Bilateral Microtia

26 Oct 2016, Gel status: 4