Genes in panel

STRs in panel

Prev Next

Regions in panel

Prev Next

Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: CDC45

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

5 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Syndromic coronal/MSS CSS is frequent ; Review on behalf of Tracy Lester/Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Coronal synostosis; Meier-Gorlin syndrome 7, 617063

Publications

25985138

Created: 5 Mar 2019, 11:33 a.m.

Panel version: 1.47

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: CDC45; Suggested initial gene rating: green
Created: 5 Mar 2019, 11:21 a.m.

Created: 5 Mar 2019, 11:21 a.m.

Panel version: 1.46

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: Added phenotypes
Created: 22 Sep 2017, 9:01 a.m.

Created: 22 Sep 2017, 9:01 a.m.

Panel version: 1.19

Richard Scott (Genomics England Curator)

Comment on list classification: Coronal synostosis
Created: 1 Feb 2016, 10:30 a.m.

Comment on mode of inheritance: mutations likely hypomorphic in combination since this is an essential gene
Created: 1 Feb 2016, 10:23 a.m.

Created: 1 Feb 2016, 10:23 a.m.

Panel version: 0.32

Andrew Wilkie (University of Oxford)

Green List (high evidence)

3 cases described in Taylor et al; mutations likely hypomorphic in combination since this is an essential gene
Created: 14 Sep 2015, 1:39 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

25985138

Created: 14 Sep 2015, 1:39 p.m.

Panel version: 0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green
Expert list

Phenotypes

Coronal synostosis
Meier-Gorlin syndrome 7, 617063

OMIM

603465

Clinvar variants

Variants in CDC45

Penetrance

Complete

Publications

25985138

Panels with this gene

History Filter Activity

5 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to CDC45. Rating Changed from Green List (high evidence) to Green List (high evidence)

22 Sep 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for CDC45 were set to Coronal synostosis; Meier-Gorlin syndrome 7, 617063

1 Feb 2016, Gel status: 4