CDT1

chromatin licensing and DNA replication factor 1
OMIM: 605525, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green CDT1 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.29

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • micrognathia, microtia, patellar hypoplasia/aplasia, mammary hypoplasia

Green CDT1 in Deafness and congenital structural abnormalities

Level 3: Deafness and congenital structural abnormalities
Level 2: Hearing and ear disorders
Version 1.17

review 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

Green CDT1 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.74

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Other
  • Expert list
Phenotypes
  • MPD
  • microcephalic primordial dwarfism
  • Meier-Gorlin syndrome 4, 613804

Green CDT1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.203

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • UKGTN
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Meier-Gorlin syndrome 4 613804

Green CDT1 in Fetal anomalies


Version 0.346

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MEIER-GORLIN SYNDROME 4

Green CDT1 in DDG2P


Version 1.148

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MEIER-GORLIN SYNDROME 4 613804

Red CDT1 in Growth failure in early childhood


Version 1.3

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • micrognathia, microtia, patellar hypoplasia/aplasia, mammary hypoplasia
  • Meier-Gorlin syndrome 4, 613804
  • Meier-Gorlin

Red CDT1 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.1098

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • MEIER-GORLIN SYNDROME 4