DNAH5

dynein axonemal heavy chain 5
OMIM: 603335, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green DNAH5 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.418

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert list
Phenotypes
  • Ciliary dyskinesia, primary, 3, with or without situs inversus, MIM# 608644

Green DNAH5 in Ciliary Dyskinesia


Level 2: Respiratory disorders
Version 1.39

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644)

Green DNAH5 in Heterotaxy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.32

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644)

Green DNAH5 in Interstitial Lung Disease


Level 2: Respiratory disorders
Version 1.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644)

Green DNAH5 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644)

Red DNAH5 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

review Not set
Sources
  • Emory Genetics Laboratory

Green DNAH5 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)

Green DNAH5 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Primary ciliary dyskinesia

Green DNAH5 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644)
  • Heterotaxy

Green DNAH5 in Prepair 1000+


Level 2: Screening
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)

Red DNAH5 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.113

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Ciliary dyskinesia, primary, 3, with or without situs inversus, MIM# 608644

Green DNAH5 in Prepair 500+


Level 2: Screening
Version 1.1

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)