CDC45

cell division cycle 45
OMIM: 603465, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green CDC45 in Craniosynostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.68

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Meier-Gorlin syndrome 7 MIM#617063

Green CDC45 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Meier-Gorlin syndrome 7, MIM 617063

Green CDC45 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • NHS GMS
Phenotypes
  • Craniosynostosis (Wilkie) (from Ana Beleza)
  • Meier-Gorlin syndrome with craniosynostosis (from PMID 27374770)

Green CDC45 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Meier-Gorlin syndrome 7, 617063 (3), Autosomal recessive

Amber CDC45 in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.252

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Amber
  • Expert list
Phenotypes
  • Meier-Gorlin syndrome 7, 617063
  • MGORS7

Green CDC45 in Growth failure


Version 1.76

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Meier-Gorlin syndrome 7, MIM 617063

Green CDC45 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Meier-Gorlin syndrome 7, MIM 617063

Green CDC45 in Prepair 1000+


Level 2: Screening
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Meier-Gorlin syndrome 7, 617063 (3), Autosomal recessive