CCDC39:Ensemblv115

coiled-coil domain 39 molecular ruler complex subunit
OMIM: 613798, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green CCDC39 in Ciliary Dyskinesia


Level 2: Respiratory disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Ciliary dyskinesia, primary, 14, MIM# 613807

Green CCDC39 in Heterotaxy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Ciliary dyskinesia, primary, 14, MIM# 613807

Green CCDC39 in Interstitial Lung Disease


Level 2: Respiratory disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Ciliary dyskinesia, primary, 14, MIM# 613807

Green CCDC39 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Ciliary dyskinesia, primary, 14, 613807 (3)

Green CCDC39 in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
Phenotypes
  • Primary ciliary dyskinesia

Green CCDC39 in Fetal anomalies


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Ciliary dyskinesia, primary, 14, MIM# 613807

Green CCDC39 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Ciliary dyskinesia, primary, 14, 613807 (3)

Green CCDC39 in Prepair 500+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Ciliary dyskinesia, primary, 14 MIM#613807