Laterality disorders and isomerism

Gene: DNAAF1

Green List (high evidence)

On CGGL Royal Brompton panel. Several likely pathogenic LOF variants detected to date; however only single heterozygou variants therfore diagnoses not confirmed.

DNAAF1 plays a role in assembly of dynein arms and the stability of ciliary architecture (van Rooijen et al 2008 JASN 19(6):1128-1138). Pathogenic variants are a known cause of autosomal recessive PCD, and loss of function is a known disease mechanism (Duquesnoy et al 2009 AJHG 85(6):890-896; Loges et al 2009 85(6):883-889)

Created: 25 Nov 2019, 9:52 p.m. | Last Modified: 25 Nov 2019, 9:52 p.m.

Panel Version: 0.51

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
OMIM 613193 Ciliary dyskinesia, primary, 13

Publications

• 19944405
• 19944400
• 18385425

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: DNAAF1; 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.