Craniosynostosis

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

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

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.

Louise Daugherty (Genomics England Curator)

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

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.

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

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
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

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Feb 2016, Gel status: 4

Set publications

Richard Scott (Genomics England Curator)

Publications for CDC45 were set to 25985138

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Richard Scott (Genomics England Curator)

Mode of inheritance for CDC45 was changed to BIALLELIC, autosomal or pseudoautosomal

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

27 Jul 2015, Gel status: 0

Added New Source

Eik Haraldsdottir (Genomics England)

CDC45 was added to Craniosynostosis syndromespanel. Sources: Expert list