Craniosynostosis
Gene: CDC45

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

2 reviews

Yetong Chen (University of Melbourne)

Green List (high evidence)

Additional cases are found in new publications.
PMID 33639314 reports 2 patients from the same family harbouring compound heterozygous MAN2B1 variants (c.1541_1544del, p.(Lys514 Thrfs*10) and c.630G > A, p.(Arg 210 = )) who had craniosynostosis.
PMID 27884935 reports a patient (family 3) with compound heterozygous MAN2B1 variants (c.226A>C, p.(N76H) and c.469C>T, p.(R157C)) who had bi-coronal craniosynostosis.
Created: 18 May 2023, 12:20 a.m. | Last Modified: 18 May 2023, 12:20 a.m.

Panel Version: 1.61

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meier-Gorlin syndrome 7, MIM#617063

Publications

Created: 18 May 2023, 12:20 a.m.
Last Modified: 18 May 2023, 12:20 a.m.
Panel version: 1.61

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 12 families reported with craniosynostosis as a feature of the condition.
Created: 3 Jun 2020, 5:56 a.m. | Last Modified: 3 Jun 2020, 5:56 a.m.

Panel Version: 0.5

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meier-Gorlin syndrome 7 MIM#617063

Publications

27374770

Created: 3 Jun 2020, 5:56 a.m.
Last Modified: 3 Jun 2020, 5:56 a.m.
Panel version: 0.5

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Meier-Gorlin syndrome 7 MIM#617063

OMIM

603465

Clinvar variants

Variants in CDC45

Penetrance

None

Publications

Panels with this gene

History Filter Activity

18 May 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CDC45 were set to 27374770

3 Jun 2020, Gel status: 3