DNAAF1

dynein axonemal assembly factor 1
OMIM: 613190, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Red DNAAF1 in Non-CF bronchiectasis

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.26

review Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Bronchiectasis

Red DNAAF1 in Familial pulmonary fibrosis

Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.16

review Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Pulmonary Disease

Red DNAAF1 in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.12

review Not set
Sources
  • Emory Genetics Laboratory

Red DNAAF1 in Ductal plate malformation


Version 1.18

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Ciliary dyskinesia, primary, 13 (613193)

Green DNAAF1 in Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.33

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Primary Ciliary Dyskinesia
  • Ciliary dyskinesia, primary, 13, 613193

Green DNAAF1 in Laterality disorders and isomerism


Version 1.45
Latest signed off version: v1.19 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 13, 613193

Green DNAAF1 in Respiratory ciliopathies including non-CF bronchiectasis


Version 1.50
Latest signed off version: v1.3 (2 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 13, 613193
  • Primary Ciliary Dyskinesia
  • Bronchiectasis

Red DNAAF1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.145
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Emory Genetics Laboratory

    Green DNAAF1 in Fetal anomalies


    Version 1.749
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE Additional Gene List
    • Expert Review Green
    Phenotypes
    • Primary ciliary dyskinesia 613193

    Red DNAAF1 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.149

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Ciliary dyskinesia, primary, 13, 613193
    • ciliopathies

    Green DNAAF1 in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Ciliary dyskinesia, primary, 13, 613193