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Fetal anomalies

Gene: CDC45

Green List (high evidence)

CDC45 (cell division cycle 45)
EnsemblGeneIds (GRCh38): ENSG00000093009
EnsemblGeneIds (GRCh37): ENSG00000093009
OMIM: 603465, Gene2Phenotype
CDC45 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association. Multiple congenital anomalies are a feature, including craniosynostosis and congenital heart disease.
Created: 11 Nov 2021, 10:21 p.m. | Last Modified: 11 Nov 2021, 10:21 p.m.
Panel Version: 0.393

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meier-Gorlin syndrome 7, MIM 617063

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Meier-Gorlin syndrome 7, MIM 617063
OMIM
603465
Clinvar variants
Variants in CDC45
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

11 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CDC45 were changed from Meier-Gorlin Syndrome and Craniosynostosis to Meier-Gorlin syndrome 7, MIM 617063

11 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CDC45 were set to

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CDC45 was added gene: CDC45 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: CDC45 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CDC45 were set to Meier-Gorlin Syndrome and Craniosynostosis