Genes in panel
STRs in panel
Prev Next

Skeletal dysplasia

Gene: CDT1

Green List (high evidence)

CDT1 (chromatin licensing and DNA replication factor 1)
EnsemblGeneIds (GRCh38): ENSG00000167513
EnsemblGeneIds (GRCh37): ENSG00000167513
OMIM: 605525, Gene2Phenotype
CDT1 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Established gene-disease association, more than 5 unrelated families reported.
Created: 9 Mar 2021, 10:50 a.m. | Last Modified: 9 Mar 2021, 10:50 a.m.
Panel Version: 0.6646

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meier-Gorlin syndrome 4, MIM# 613804; MONDO:0013431

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Meier-Gorlin syndrome 4 613804
OMIM
605525
Clinvar variants
Variants in CDT1
Penetrance
None
Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CDT1 was added gene: CDT1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green Mode of inheritance for gene: CDT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CDT1 were set to Meier-Gorlin syndrome 4 613804