Ductal plate malformation

Gene: CCDC39

Red List (low evidence)

CCDC39 (coiled-coil domain containing 39)
EnsemblGeneIds (GRCh38): ENSG00000145075
EnsemblGeneIds (GRCh37): ENSG00000145075
OMIM: 613798, Gene2Phenotype
CCDC39 is in 13 panels

1 review

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Red gene on Rare ciliopathy panel. Demoted from green to red as insufficient evidence
Created: 12 Nov 2018, 1:55 p.m.


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Ciliary dyskinesia, primary, 14 (613807)
Clinvar variants
Variants in CCDC39
Panels with this gene

History Filter Activity

30 Nov 2018, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ivone Leong: Red gene on Rare ciliopathy pa

12 Nov 2018, Gel status: 1

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Red was added to CCDC39. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 4

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene CCDC39 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

6 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: CCDC39 was added gene: CCDC39 was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: CCDC39 was set to Unknown Phenotypes for gene: CCDC39 were set to Ciliary dyskinesia, primary, 14 (613807)