Microcephaly
Gene: CDT1

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. Microcephaly is part of the phenotype.
Created: 9 Mar 2021, 10:48 a.m. | Last Modified: 9 Mar 2021, 10:50 a.m.

Panel Version: 0.541

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meier-Gorlin syndrome 4, MIM# 613804

Publications

Created: 9 Mar 2021, 10:48 a.m.
Last Modified: 9 Mar 2021, 10:50 a.m.
Panel version: 0.538

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

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

OMIM

605525

Clinvar variants

Variants in CDT1

Penetrance

None

Publications

Panels with this gene