Deafness and congenital structural abnormalities
Gene: CDT1Comment 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.
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.
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
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
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Causes Meier-Gorlin EPS; syndromic features
Publications
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.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
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
Publications for CDT1 were set to 21358632;10898791; 11125146; 11477602; 11992493; 12815436; 15286659; 21358631; 21358632; 22645314;213586; 11477602; 21358631; 15286659
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
CDT1 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Green
CDT1 was created by sleigh