GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: CDC45Rating, MOI and phenotypes updated. Reviews correct. This gene had been switched with CD96 in upload. Only affects internal panel.Created: 3 May 2019, 8:58 a.m.
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, 11:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meier-Gorlin syndrome with craniosynostosis (from PMID 27374770); Craniosynostosis (Wilkie) (from Ana Beleza)
Publications
Phenotypes for gene: CDC45 were changed from C-syndrome 217750 (opitz trigonocephaly) to Meier-Gorlin syndrome with craniosynostosis (from PMID 27374770); Craniosynostosis (Wilkie) (from Ana Beleza)
Publications for gene: CDC45 were set to
Mode of inheritance for gene: CDC45 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Gene: cdc45 has been classified as Green List (High Evidence).
gene: CDC45 was added gene: CDC45 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: CDC45 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CDC45 were set to C-syndrome 217750 (opitz trigonocephaly)