DNAAF2

dynein axonemal assembly factor 2
OMIM: 612517, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green DNAAF2 in Ciliary Dyskinesia


Level 2: Respiratory disorders
Version 1.63

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 10, MIM# 612518

Green DNAAF2 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, 10 612518

Green DNAAF2 in Interstitial Lung Disease


Level 2: Respiratory disorders
Version 1.2

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 10, MIM# 612518

Green DNAAF2 in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 10, MIM# 612518

Red DNAAF2 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.346

1 review Not set
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Victorian Clinical Genetics Services

Red DNAAF2 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

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

Green DNAAF2 in Fetal anomalies


Version 1.465

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Ciliary dyskinesia, primary, 10, 612518

Red DNAAF2 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.140

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