Laterality disorders and isomerismGene: CCDC39
On CGGL Royal Brompton diagnostic panel. Known cause of PCD iwth isomerism/heterotaxy being a feature. Multiple cases reported at CGGL.
Created: 19 Nov 2019, 4:23 p.m. | Last Modified: 19 Nov 2019, 4:23 p.m.
Panel Version: 0.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
OMIM 613807 Ciliary dyskinesia, primary, 14
Variants in this GENE are reported as part of current diagnostic practice
Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: CCDC39; Suggested initial gene rating: Green; Evidence for inclusion: OMIM PCD or Visceral heterotaxy gene; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 5 Dec 2018, 12:52 p.m.
Phenotypes for gene: CCDC39 were changed from to Ciliary dyskinesia, primary, 14, 613807
Publications for gene: CCDC39 were set to
Mode of inheritance for gene: CCDC39 was changed from to BIALLELIC, autosomal or pseudoautosomal
Source Expert Review Green was added to CCDC39. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: CCDC39 was added gene: CCDC39 was added to Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: CCDC39 was set to