DNAAF3

dynein axonemal assembly factor 3
OMIM: 614566, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels
Red DNAAF3 in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.20

review Not set
Sources
  • Emory Genetics Laboratory
Red DNAAF3 in Ductal plate malformation


Version 1.29

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Ciliary dyskinesia, primary, 2 (606763)
Green DNAAF3 in Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.42

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, 2, 606763
Green DNAAF3 in Laterality disorders and isomerism


Version 3.15
Latest signed off version: v3.9 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 2, 606763
Green DNAAF3 in Respiratory ciliopathies including non-CF bronchiectasis


Version 3.11
Latest signed off version: v3.10 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Primary Ciliary Dyskinesia
  • Ciliary dyskinesia, primary, 2, 606763
Red DNAAF3 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.4
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Emory Genetics Laboratory
    Green DNAAF3 in Fetal anomalies


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • PRIMARY CILIARY DYSKINEASIA
    • Ciliary dyskinesia, primary, 2, MIM:606763
    Green DNAAF3 in DDG2P


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • PRIMARY CILIARY DYSKINEASIA 606763
    Red DNAAF3 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.21
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Ciliary dyskinesia, primary, 2, 606763
    Red DNAAF3 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.172

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Ciliary dyskinesia, primary, 2, 606763
    • ciliopathies
    Green DNAAF3 in Severe Paediatric Disorders


    Version 1.184

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Ciliary dyskinesia, primary, 2, 606763