Laterality disorders and isomerism

Gene: 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

Green List (high evidence)

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

Phenotypes
OMIM 616037 Ciliary dyskinesia, primary, 30

Publications

• 25192045
• 25224326

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

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.