Skeletal dysplasia
Gene: CDC6

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

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: Only one variant reported (2016)
Created: 28 Jul 2016, 7:45 a.m.

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Only one variant reported
Created: 28 Jul 2016, 7:44 a.m.

Created: 28 Jul 2016, 7:45 a.m.

Panel version: 0.779

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 17 Jun 2016, 8:02 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ear-patella-short stature syndrome (Meier-Gorlin syndrome 5) 613805

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Jun 2016, 8:02 a.m.

Panel version: 0.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
UKGTN
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services
Expert list

Phenotypes

Meier-Gorlin syndrome 5, OMIM:613805

OMIM

602627

Clinvar variants

Variants in CDC6

Penetrance

Complete

Panels with this gene

History Filter Activity

24 Apr 2024, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CDC6 were changed from Meier-Gorlin syndrome 5 613805 to Meier-Gorlin syndrome 5, OMIM:613805

9 Aug 2016, Gel status: 1