1. Genes and Genomic Entities
  2. DNAH5

DNAH5

dynein axonemal heavy chain 5
OMIM: 603335, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels
Green DNAH5 in Non-CF bronchiectasis

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.30

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Bronchiectasis
  • Primary Ciliary Dyskinesia
  • Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644
  • situs inversus
Red DNAH5 in Familial pulmonary fibrosis

Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.31

review Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Pulmonary Disease
Red DNAH5 in Thoracic dystrophies

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

review Not set
Sources
  • Emory Genetics Laboratory
Red DNAH5 in Ductal plate malformation


Version 1.29

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Ciliary dyskinesia, primary, 3, with or without situs inversus (608644)
Green DNAH5 in Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.42

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Primary Ciliary Dyskinesia
  • Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644
Green DNAH5 in Laterality disorders and isomerism


Version 3.10
Latest signed off version: v3.9 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644
Green DNAH5 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
  • Bronchiectasis
  • Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644
Red DNAH5 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.1
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 DNAH5 in Fetal anomalies


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • PAGE Additional Gene List
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • CILIARY DYSKINESIA, PRIMARY, 3
    • Primary ciliary dyskinesia 608644
    • heterotaxy
    Tags
    • watchlist
    Green DNAH5 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
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • CILIARY DYSKINESIA, PRIMARY, 3
    Red DNAH5 in Paediatric disorders - additional genes


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • South West GLH
    Phenotypes
    • Ciliary dyskinesia, primary, 3, with or without situs inversus
    Red DNAH5 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, 3, with or without situs inversus, 608644
    • ciliopathies
    Green DNAH5 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, 3, with or without situs inversus, 608644