Deafness and congenital structural 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

5 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Green gene on the Bilateral microtia (Version 1.10), Ear malformations with hearing impairment (Version 0.103) and Familial hemifacial microsomia (Version 0.148) gene panels which were combined to create this panel.
Created: 14 Oct 2016, 11:16 a.m.

Comment on list classification: Green on the Bilateral Microtia Version 1.10 panel.
Created: 12 Sep 2016, 2:17 p.m.

Created: 12 Sep 2016, 2:17 p.m.

Panel version: Imported from "Ear malformations with hearing impairment" panel version 0.22

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P / DD. At least five variants reported. Two as compound heterozygotes in three unrelated families, two additional compound heterozygotes involving different variant combinations and one homozygous variant.
Created: 8 Sep 2016, 8:43 a.m.

Created: 8 Sep 2016, 8:43 a.m.

Panel version: Imported from "Familial hemifacial microsomia" panel version 0.8

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Short stature, small head size, the ears may be low-set or rotated backward (+/-microtia). Additional features can include a small mouth (microstomia), an underdeveloped lower jaw (micrognathia), full lips, and a narrow nose with a high nasal bridge

Publications

Created: 18 Aug 2016, 9:33 a.m.

Panel version: Imported from "Familial hemifacial microsomia" panel version 0.2

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: Imported from "Bilateral microtia" 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: Imported from "Bilateral microtia" panel version 0.0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
UKGTN
Emory Genetics Laboratory
Radboud University Medical Center, Nijmegen
Expert list

Phenotypes

Meier-Gorlin syndrome 4, OMIM:613804
Short stature, small head size, the ears may be low-set or rotated backward (+/-microtia). Additional features can include a small mouth (microstomia), an underdeveloped lower jaw (micrognathia), full lips, and a narrow nose with a high nasal bridge

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 Bilateral Microtia; 613804; Meier-Gorlin syndrome 4, 613804; Causes Meier-Gorlin EPS; syndromic features; Short stature, small head size, the ears may be low-set or rotated backward (+/-microtia). Additional features can include a small mouth (microstomia), an underdeveloped lower jaw (micrognathia), full lips, and a narrow nose with a high nasal bridge to Meier-Gorlin syndrome 4, OMIM:613804; Short stature, small head size, the ears may be low-set or rotated backward (+/-microtia). Additional features can include a small mouth (microstomia), an underdeveloped lower jaw (micrognathia), full lips, and a narrow nose with a high nasal bridge

26 Oct 2016, Gel status: 4