PanelApp (test)
  1. Genes and Genomic Entities
  2. DNAH5:Ensemblv90

DNAH5:Ensemblv90

dynein axonemal heavy chain 5
OMIM: 603335, ClinGen, DECIPHER

19 panels

Panel Reviews Mode of inheritance Details
19 panels

Green DNAH5 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.511

2 reviews 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 1.68

2 reviews 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 1.44

1 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 1.4

2 reviews 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 1.3802

1 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 0.365

1 review Not set
Sources
  • Emory Genetics Laboratory

Green DNAH5 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.111

0 reviews 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

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

Green DNAH5 in Fetal anomalies


Version 1.482

1 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 2.15

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)

Red DNAH5 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.141

1 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 2.0

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

Green DNAH5 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 1.0

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

Green DNAH5 in Ciliary Dyskinesia


Level 2: Respiratory disorders
Version 2.0

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

Green DNAH5 in Heterotaxy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

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

Green DNAH5 in Interstitial Lung Disease


Level 2: Respiratory disorders
Version 2.0

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

Green DNAH5 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

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

Green DNAH5 in Prepair 1000+


Level 2: Screening
Version 3.0

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

Green DNAH5 in Prepair 500+


Level 2: Screening
Version 3.0

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