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  2. GMS Musculoskeletal specialist test group Skeletal dysplasia
  3. CDC45
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GMS Musculoskeletal specialist test group Skeletal dysplasia

Gene: CDC45

Green List (high evidence)
CDC45 (cell division cycle 45)
EnsemblGeneIds (GRCh38): ENSG00000093009
EnsemblGeneIds (GRCh37): ENSG00000093009
OMIM: 603465, Gene2Phenotype
CDC45 is in 6 panels

2 reviews

Eleanor Williams (Genomics England Curator)

Rating, 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.
Created: 3 May 2019, 8:58 a.m.

Panel version: 0.23

Tracy Lester (Genetics laboratory, Oxford UK)

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, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meier-Gorlin syndrome with craniosynostosis (from PMID 27374770); Craniosynostosis (Wilkie) (from Ana Beleza)

Publications

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Meier-Gorlin syndrome with craniosynostosis (from PMID 27374770)
  • Craniosynostosis (Wilkie) (from Ana Beleza)
OMIM
603465
Clinvar variants
Variants in CDC45
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 May 2019, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

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)

3 May 2019, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: CDC45 were set to

3 May 2019, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: CDC45 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal

3 May 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: cdc45 has been classified as Green List (High Evidence).

6 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

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)