Respiratory ciliopathies including non-CF bronchiectasis

Gene: DNAAF1

Green List (high evidence)

DNAAF1 (dynein axonemal assembly factor 1)
EnsemblGeneIds (GRCh38): ENSG00000154099
EnsemblGeneIds (GRCh37): ENSG00000154099
OMIM: 613190, Gene2Phenotype
DNAAF1 is in 11 panels

5 reviews

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: DNAAF1; Suggested initial gene rating: Green; Evidence for inclusion: OMIM PCD gene or intersection of >2 panels; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 5 Dec 2018, 1:54 p.m.

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primary Ciliary Dyskinesia; Ciliary dyskinesia, primary, 13, 613193

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

Caroline Wright (Genomics England Curator)

Comment when marking as ready: Reviewed with team while reviewing non-CF Bronchiectasis
Created: 10 May 2016, 8:37 a.m.

Anthony De Soyza (NEWCASTLE university/ freeman hospital bronchiectasis service)

Red List (low evidence)

should be considered if PCD suspected
Created: 31 Mar 2016, 6:31 p.m.
should be considered if PCD suspected
Created: 31 Mar 2016, 6:31 p.m.

Mode of inheritance
Unknown

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

Hannah Mitchison (UCL and GOSH)

Green List (high evidence)

UK mutations reported
Created: 8 Dec 2015, 4:25 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 13

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 13, 613193
  • Primary Ciliary Dyskinesia
  • Bronchiectasis
OMIM
613190
Clinvar variants
Variants in DNAAF1
Penetrance
None
Panels with this gene

History Filter Activity

17 Jan 2019, Gel status: 4

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene DNAAF1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Ciliary dyskinesia, primary, 13, 613193; Primary Ciliary Dyskinesia; Bronchiectasis for gene: DNAAF1

5 Dec 2018, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to DNAAF1. 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: DNAAF1 was added gene: DNAAF1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: DNAAF1 was set to