Skeletal dysplasia

Gene: CDC45

Green List (high evidence)

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 Lester

Created: 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

• 27374770

I don't know

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: green

Created: 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.

Green List (high evidence)

Tier 2

Created: 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