Skeletal dysplasia
Gene: CDC45
AR. Variable phenotypes ranging from syndromic CSS to classic Meier-Gorlin. Several variants reported. Other variants of Meier-Gorlin are listed under Patellar dysostoses gp of SD.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meier-Gorlin syndrome with craniosynostosis (from PMID 27374770); Craniosynostosis (Wilkie) (from Ana Beleza)
Publications
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: CDC45; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Not yet associated with phenotype in any of the sources, OMIM or G2P. Evidence based on report of 11 variants and functional studies (PMID 27374770)Created: 7 Jul 2016, 7:43 a.m.
Comment on list classification: Tier 2 gene for skeletal dysplasia (Ana Beleza)Created: 7 Jul 2016, 7:36 a.m.
Tier 2Created: 17 Jun 2016, 8:02 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Craniosynostosis (Wilkie)
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Craniosynostosis (Wilkie) (from Ana Beleza); Meier-Gorlin syndrome with craniosynostosis (from PMID 27374770) for gene: CDC45
Source NHS GMS was added to CDC45. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for CDC45 were set to Meier-Gorlin syndrome with craniosynostosis (from PMID 27374770); Craniosynostosis (Wilkie) (from Ana Beleza)
Publications for CDC45 were set to 27374770
This gene has been classified as Green List (High Evidence).
Mode of inheritance for CDC45 was changed to BIALLELIC, autosomal or pseudoautosomal
CDC45 was created by anabeleza
CDC45 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list