DNAAF5

dynein axonemal assembly factor 5
OMIM: 614864, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Red DNAAF5 in Ductal plate malformation


Version 1.19

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
Phenotypes
  • Ciliary dyskinesia, primary, 18 (614874)

Green DNAAF5 in Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.40

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ciliary dyskinesia, primary, 18, 614874

Green DNAAF5 in Laterality disorders and isomerism


Version 1.51
Latest signed off version: v1.19 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 18, 614874

Green DNAAF5 in Respiratory ciliopathies including non-CF bronchiectasis


Version 1.58
Latest signed off version: v1.3 (2 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 18, 614874

Green DNAAF5 in Fetal anomalies


Version 1.880
Latest signed off version: v1.92 (21 Aug 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Ciliary dyskinesia, primary, 18, OMIM:614874
  • Primary ciliary dyskinesia 18, MONDO:0013940

Amber DNAAF5 in DDG2P


Version 2.76
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • CILIARY DYSKINESIA, PRIMARY, 18 614874

    Red DNAAF5 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.160

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list