Laterality disorders and isomerismGene: CCDC151
Added new-gene-name tag, new approved HGNC gene symbol for CCDC151 is ODAD3
Created: 24 Feb 2021, 5:07 p.m. | Last Modified: 24 Feb 2021, 5:07 p.m.
Panel Version: 1.21
On CGGL Royal Brompton panel. Pathogenic bi-allelic variants detected in PCD patients. Good literature evidence
CCDC151 encodes an axonenal protein with a critical role in the assembly and docking of outer dynein arms onto ciliary microtubules. Loss of function variants are a known cause of autosomal recessive primary ciliary dyskinesia (PCD).
Hjeij et al (2014) Am J Hum Genet 95(3):257-274
Created: 25 Nov 2019, 11:07 p.m. | Last Modified: 25 Nov 2019, 11:07 p.m.
Panel Version: 0.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
OMIM 616037 Ciliary dyskinesia, primary, 30
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: CCDC151; 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.
Tag new-gene-name tag was added to gene: CCDC151.
Publications for gene: CCDC151 were set to
Mode of inheritance for gene: CCDC151 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC151 were changed from to Ciliary dyskinesia, primary, 30, 616037
Source Expert Review Green was added to CCDC151. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: CCDC151 was added gene: CCDC151 was added to Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: CCDC151 was set to