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Prepair 1000+

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

Lucy Spencer (Victorian Clinical Genetics Services)

Green List (high evidence)

Is the phenotype(s) severe and onset <18yo? Yes, hallmarks of short stature, small external ears, and reduced or absent patellae. Breast hypoplasia is present in females. Patient have microcephaly, and on radiography, absent or hypoplastic patella, abnormal glenoid fossa, hook-shaped clavicles, and long slender bones. They do not have intellectual disability, and some were of high intellect (OMIM, PMID: 11992493, 21358631).
Created: 25 Jul 2024, 11:45 p.m. | Last Modified: 25 Jul 2024, 11:45 p.m.
Panel Version: 1.65

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meier-Gorlin syndrome 4 MIM#613804

Publications

Created: 25 Jul 2024, 11:45 p.m.
Last Modified: 25 Jul 2024, 11:45 p.m.
Panel version: 1.65

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Meier-Gorlin syndrome 4, 613804 (3)
OMIM
605525
Clinvar variants
Variants in CDT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: cdt1 has been classified as Green List (High Evidence).

1 Aug 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: CDT1 were set to

1 Jun 2022, 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 Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,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 (3)