CCDC114

coiled-coil domain containing 114
OMIM: 615038, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green CCDC114 in Ciliary Dyskinesia


Level 2: Respiratory disorders
Version 1.39

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 20, MIM# 615067
Tags
  • new gene name

Green CCDC114 in Heterotaxy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.32

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 20, MIM# 615067
Tags
  • new gene name

Green CCDC114 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 20, MIM# 615067
Tags
  • new gene name

Green CCDC114 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
  • Ciliary dyskinesia, primary, 20, 615067 (3)

Green CCDC114 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 20, MIM# 615067
Tags
  • new gene name

Green CCDC114 in Prepair 1000+


Level 2: Screening
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 20, 615067 (3)