DNAAF5

dynein axonemal assembly factor 5
OMIM: 614864, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green DNAAF5 in Ciliary Dyskinesia


Level 2: Respiratory disorders
Version 1.40

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 18, MIM# 614874

Green DNAAF5 in Heterotaxy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.36

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 18, MIM# 614874

Green DNAAF5 in Mendeliome


Version 1.2302

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 18, MIM# 614874

Green DNAAF5 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, 18, 614874 (3)

Red DNAAF5 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

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

Green DNAAF5 in Fetal anomalies


Version 1.313

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Primary ciliary dyskinesia 18, MONDO:0013940
  • Ciliary dyskinesia, primary, 18, OMIM:614874

Green DNAAF5 in Prepair 1000+


Level 2: Screening
Version 1.1566

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 18, 614874 (3)

Red DNAAF5 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.116

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