1. Panels
  2. Laterality disorders and isomerism
  3. DNAAF4
STRs in panel
Prev Next
Regions in panel
Prev Next

Laterality disorders and isomerism

Gene: DNAAF4

Green List (high evidence)
DNAAF4 (dynein axonemal assembly factor 4)
EnsemblGeneIds (GRCh38): ENSG00000256061
EnsemblGeneIds (GRCh37): ENSG00000256061
OMIM: 608706, Gene2Phenotype
DNAAF4 is in 7 panels

2 reviews

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

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

Phenotypes
OMIM 615482 Ciliary dyskinesia, primary, 25

Publications

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

Created: 25 Nov 2019, 10:14 p.m.
Last Modified: 25 Nov 2019, 10:14 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: 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.
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, 25, 615482
OMIM
608706
Clinvar variants
Variants in DNAAF4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Nov 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: DNAAF4 were changed from to Ciliary dyskinesia, primary, 25, 615482

27 Nov 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: DNAAF4 were set to

27 Nov 2019, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: DNAAF4 was changed from to BIALLELIC, autosomal or pseudoautosomal

5 Dec 2018, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to DNAAF4. Rating Changed from Red List (low evidence) to Green List (high evidence)

5 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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