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Prepair 1000+

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

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Characteristic features for this disorder include craniosynostosis, microtia, short stature, and absent or small patellae. Additional features include microcephaly, Chiari malformation, mild to severe developmental delay, facial dysmorphism, cleft palate, feeding difficulties, anorectal malformations, joint laxity, delayed bone age, genital anomalies, gastro-esophageal reflux, syndactyly, digital clubbing, proptosis, thin eyebrows, ventricular septal defects, and hearing loss.
Craniosynostosis is variable, ranging from unilateral or bilateral coronal synostosis to multiple suture involvement - intrafamilial variability reported.
Well established gene-disease association. >10 families reported. Animal model and functional study present.
Created: 14 Oct 2024, 4:40 a.m. | Last Modified: 14 Oct 2024, 4:40 a.m.
Panel Version: 1.420

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meier-Gorlin syndrome 7 MIM#617063

Publications

Created: 14 Oct 2024, 4:40 a.m.
Last Modified: 14 Oct 2024, 4:40 a.m.
Panel version: 1.420

Details

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

History Filter Activity

20 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

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

20 Oct 2024, Gel status: 3

Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

Phenotypes for gene: CDC45 were changed from Meier-Gorlin syndrome 7, 617063 (3), Autosomal recessive to Meier-Gorlin syndrome 7, 617063

20 Oct 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: CDC45 were set to

1 Jun 2022, 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 Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CDC45 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CDC45 were set to Meier-Gorlin syndrome 7, 617063 (3), Autosomal recessive