DNAAF4

dynein axonemal assembly factor 4
OMIM: 608706, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green DNAAF4 in Ciliary Dyskinesia


Level 2: Respiratory disorders
Version 1.67

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 25, MIM# 615482
Tags
  • SV/CNV
  • founder

Green DNAAF4 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, 25, MIM# 615482
Tags
  • SV/CNV
  • founder

Green DNAAF4 in Mendeliome


Version 1.3795

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 25, MIM# 615482
Tags
  • SV/CNV
  • founder

Green DNAAF4 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, 25, 615482 (3)

Green DNAAF4 in Fetal anomalies


Version 1.481

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 25, MIM# 615482

Green DNAAF4 in Prepair 1000+


Level 2: Screening
Version 2.15

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 25, 615482 (3)
Tags
  • cnv

Green DNAAF4 in Infertility and Recurrent Pregnancy Loss


Version 1.56

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Primary ciliary dyskinesia 25, MIM# 615482