Deafness and congenital structural abnormalities

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 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.

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.

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

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

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Causes Meier-Gorlin EPS; syndromic features

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • 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
OMIM
605525
Clinvar variants
Variants in CDT1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

26th Oct 2016: the panels Bilateral microtia version 1.10, Ear malformations with hearing impairment version 0.105, and familial hemifacial microsomia version 0.149 gene panels were combined to create this panel. The panel was revised due to expert review, further curation of evidence and internal clinical evaluation. Ready for promotion to version 1.

14 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Oct 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for CDT1 were set to 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

14 Oct 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for CDT1 were set to 21358632;10898791; 11125146; 11477602; 11992493; 12815436; 15286659; 21358631; 21358632; 22645314;213586; 11477602; 21358631; 15286659

5 Oct 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

CDT1 was added to Deafness and congenital structural abnormalitiespanel. Source: Emory Genetics Laboratory CDT1 was added to Deafness and congenital structural abnormalitiespanel. Source: Radboud University Medical Center, Nijmegen CDT1 was added to Deafness and congenital structural abnormalitiespanel. Source: UKGTN

5 Oct 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

CDT1 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Green

5 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

CDT1 was created by sleigh