IUGR and IGF abnormalities
Gene: CDT1
CDT1 (chromatin licensing and DNA replication factor 1)
EnsemblGeneIds (GRCh38): ENSG00000167513
EnsemblGeneIds (GRCh37): ENSG00000167513
OMIM: 605525, Gene2Phenotype
CDT1 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000167513
EnsemblGeneIds (GRCh37): ENSG00000167513
OMIM: 605525, Gene2Phenotype
CDT1 is in 8 panels
3 reviews
Peter Clayton (University of Manchester)
Philip Murray (University of Manchester)
emma baple (Genomics England Curator)
Comment on phenotypes: Meier GorlinCreated: 3 Apr 2016, 8:24 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Meier-Gorlin syndrome 4, OMIM:613804
- micrognathia, microtia, patellar hypoplasia/aplasia, mammary hypoplasia
- OMIM
- 605525
- Clinvar variants
- Variants in CDT1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
24 Apr 2024, Gel status: 3
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CDT1 were changed from micrognathia, microtia, patellar hypoplasia/aplasia, mammary hypoplasia to Meier-Gorlin syndrome 4, OMIM:613804; micrognathia, microtia, patellar hypoplasia/aplasia, mammary hypoplasia
3 Apr 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
3 Apr 2016, Gel status: 4
Set Phenotypes
emma baple (Genomics England Curator)Phenotypes for CDT1 were set to micrognathia, microtia, patellar hypoplasia/aplasia, mammary hypoplasia
3 Apr 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
23 Oct 2015, Gel status: 0
Added New Source
Philip Murray (University of Manchester)CDT1 was added to IUGR and IGF abnormalitiespanel. Sources: Literature
23 Oct 2015, Gel status: 0
Created
Philip Murray (University of Manchester)CDT1 was created by PhilMurray