Bilateral microtia
Gene: CDT1

CDT1 (chromatin licensing and DNA replication factor 1)
EnsemblGeneIds (GRCh38): ENSG00000167513
EnsemblGeneIds (GRCh37): ENSG00000167513
OMIM: 605525, Gene2Phenotype
CDT1 is in 8 panels

2 reviews

Jun Shen (Harvard Medical School)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#613804:Meier-Gorlin syndrome 4 [Short stature; Birth length less than 3rd percentile; Birth weight less than 3rd percentile; Intrauterine growth retardation (IUGR); Failure to thrive; Microcephaly; Microtia; Low-set ears; Abnormally formed ears; Small mouth; Full lips; Maxillary hypoplasia; Mandibular hypoplasia; Respiratory problems; Emphysema, congenital; Hook-shaped clavicles; Abnormal glenoid fossa; Breast hypoplasia; Feeding difficulties in early infancy; Cryptorchidism; Delayed bone age; Slender long bones; Absent patellae; Genu recurvatum; No mental retardation; Intellect high (in some patients)]

Publications

Created: 9 Feb 2016, 5:15 p.m.

Panel version: 1.0

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Causes Meier-Gorlin EPS; syndromic features

Publications

21358632

Created: 3 Feb 2016, 4:08 p.m.

Panel version: 0.0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list

Phenotypes

Bilateral Microtia
613804

OMIM

605525

Clinvar variants

Variants in CDT1

Penetrance

Complete

Publications

21358632

Panels with this gene