DNAH1

dynein axonemal heavy chain 1
OMIM: 603332, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber DNAH1 in Ciliary Dyskinesia


Level 2: Respiratory disorders
Version 1.63

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Amber
Phenotypes
  • Primary ciliary dyskinesia 7, MONDO:0012748

Red DNAH1 in Heterotaxy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.44

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Primary ciliary dyskinesia 7, MONDO:0012748

Green DNAH1 in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • Spermatogenic failure 18, MONDO:0054615
  • Primary ciliary dyskinesia 7, MONDO:0012748

Amber DNAH1 in Fetal anomalies


Version 1.465

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Situs inversus
  • primary ciliary dyskinesia, MIM#617577
  • infertility, MIM#617576

Green DNAH1 in Infertility and Recurrent Pregnancy Loss


Version 1.50

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Spermatogenic failure 18, MONDO:0054615