Laterality disorders and isomerismGene: DNAAF1
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
OMIM 613193 Ciliary dyskinesia, primary, 13
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: 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.
Phenotypes for gene: DNAAF1 were changed from to Ciliary dyskinesia, primary, 13, 613193
Publications for gene: DNAAF1 were set to
Mode of inheritance for gene: DNAAF1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Source Expert Review Green was added to DNAAF1. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: DNAAF1 was added gene: DNAAF1 was added to Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: DNAAF1 was set to