Skeletal dysplasia
Gene: CDC6Comment 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 reportedCreated: 28 Jul 2016, 7:44 a.m.
Tier 1Created: 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
Phenotypes for gene: CDC6 were changed from Meier-Gorlin syndrome 5 613805 to Meier-Gorlin syndrome 5, OMIM:613805
Promoted to version 1 9th August 2016
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for CDC6 were set to Meier-Gorlin syndrome 5 613805
Mode of inheritance for CDC6 was changed to BIALLELIC, autosomal or pseudoautosomal
CDC6 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
CDC6 was added to Unexplained skeletal dysplasiapanel. Sources:
CDC6 was created by sleigh