Laterality disorders and isomerism
Gene: DNAAF5

DNAAF5 (dynein axonemal assembly factor 5)
EnsemblGeneIds (GRCh38): ENSG00000164818
EnsemblGeneIds (GRCh37): ENSG00000164818
OMIM: 614864, Gene2Phenotype
DNAAF5 is in 7 panels

2 reviews

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Green List (high evidence)

On CGGL Royal Brompton panel. Only mono-allelic VUS detected to date. Good evidence in literature, with segregation data in Amish and Dutch families.
Created: 25 Nov 2019, 10:18 p.m. | Last Modified: 25 Nov 2019, 10:18 p.m.

Panel Version: 0.51

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
OMIM 614874 Ciliary dyskinesia, primary, 18

Publications

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

Created: 25 Nov 2019, 10:18 p.m.
Last Modified: 25 Nov 2019, 10:18 p.m.
Panel version: 0.51

Louise Daugherty (Genomics England Curator)

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: DNAAF5; 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.

Created: 5 Dec 2018, 12:52 p.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Ciliary dyskinesia, primary, 18, 614874

OMIM

614864

Clinvar variants

Variants in DNAAF5

Penetrance

None

Publications

Panels with this gene