Clefting
Gene: CDC45
CDC45 (cell division cycle 45)
EnsemblGeneIds (GRCh38): ENSG00000093009
EnsemblGeneIds (GRCh37): ENSG00000093009
OMIM: 603465, Gene2Phenotype
CDC45 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000093009
EnsemblGeneIds (GRCh37): ENSG00000093009
OMIM: 603465, Gene2Phenotype
CDC45 is in 6 panels
1 review
Louise Daugherty (Genomics England Curator)
Comment on list classification: Changed from red to amber as there are two unrelated cases.Created: 31 May 2017, 12:35 p.m.
Comment on publications: Only two unrelated cases with clefting reported to date Fenwick et al. (2016) PMID: 27374770Created: 31 May 2017, 12:35 p.m.
previous gene symbol CDC45LCreated: 31 May 2017, 12:23 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meier-Gorlin syndrome 7, 617063
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Meier-Gorlin syndrome 7, 617063
- MGORS7
- OMIM
- 603465
- Clinvar variants
- Variants in CDC45
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
31 May 2017, Gel status: 2
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
31 May 2017, Gel status: 2
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
31 May 2017, Gel status: 1
Set publications
Louise Daugherty (Genomics England Curator)Publications for CDC45 were set to 27374770
31 May 2017, Gel status: 1
Upload gene information
Louise Daugherty (Genomics England Curator)CDC45 was added to Cleftingpanel. Sources: Radboud University Medical Center, Nijmegen
31 May 2017, Gel status: 0
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for CDC45 were set to Meier-Gorlin syndrome 7, 617063; MGORS7
31 May 2017, Gel status: 0
Added New Source
Louise Daugherty (Genomics England Curator)CDC45 was added to Cleftingpanel. Sources: Expert list
31 May 2017, Gel status: 0
Created
Louise Daugherty (Genomics England Curator)CDC45 was created by LouiseD