Laterality disorders and isomerismGene: DNAAF3
On CGGL Royal Brompton panel. Bi-allelic variants detected in PCD patients. Good literature evidence. ~half of cases with situs inversus
Created: 25 Nov 2019, 10:05 p.m. | Last Modified: 25 Nov 2019, 10:05 p.m.
Panel Version: 0.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
OMIM 606763 Ciliary dyskinesia, primary, 2
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: DNAAF3; 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: DNAAF3 were changed from to Ciliary dyskinesia, primary, 2, 606763
Mode of inheritance for gene: DNAAF3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAAF3 were set to
Source Expert Review Green was added to DNAAF3. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: DNAAF3 was added gene: DNAAF3 was added to Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: DNAAF3 was set to