Laterality disorders and isomerismGene: CCDC40
On CGGL Royal Brompton panel. Multiple PCD patients reported (several with situs inversus)
All variants reported in the literature associated with PCD are predicted to lead to loss of function (eg: Antony et al (2013) Hum Mutat 34(3):462-72
Created: 25 Nov 2019, 9:30 p.m. | Last Modified: 25 Nov 2019, 9:30 p.m.
Panel Version: 0.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
OMIM 613808 Ciliary dyskinesia, primary, 15
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: CCDC40; 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.
Publications for gene: CCDC40 were set to
Phenotypes for gene: CCDC40 were changed from to Ciliary dyskinesia, primary, 15, 613808
Mode of inheritance for gene: CCDC40 was changed from to BIALLELIC, autosomal or pseudoautosomal
Source Expert Review Green was added to CCDC40. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: CCDC40 was added gene: CCDC40 was added to Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: CCDC40 was set to