Laterality disorders and isomerismGene: DNAAF4
On CGGL Royal Brompton panel. Only mono-allelic VUS detected to date. Good literature evidence with some segregation evidence in affected families. Phenotype includes situs inversus totalis. LOF variants described in clinVar in PCD patients.
Created: 25 Nov 2019, 10:14 p.m. | Last Modified: 25 Nov 2019, 10:14 p.m.
Panel Version: 0.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
OMIM 615482 Ciliary dyskinesia, primary, 25
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: DNAAF4; 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: DNAAF4 were changed from to Ciliary dyskinesia, primary, 25, 615482
Publications for gene: DNAAF4 were set to
Mode of inheritance for gene: DNAAF4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Source Expert Review Green was added to DNAAF4. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: DNAAF4 was added gene: DNAAF4 was added to Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: DNAAF4 was set to