DNAH1

dynein axonemal heavy chain 1
OMIM: 603332, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red DNAH1 in Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.56

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Too new - not yet linked to the PCD mutations publication
Amber DNAH1 in Laterality disorders and isomerism


Level 2: Respiratory
Version 4.10
Latest signed off version: v4.0 (30 Apr 2025)

review Not set
Sources
  • Expert Review Amber
  • NHS GMS
Red DNAH1 in Respiratory ciliopathies including non-CF bronchiectasis


Level 2: Respiratory
Version 4.55
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 37, OMIM:617577
  • ciliary dyskinesia, primary, 37, MONDO:0033204
Red DNAH1 in Rare multisystem ciliopathy disorders

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.180

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Spermatogenic failure 18, 617576
  • ?Ciliary dyskinesia, primary, 37, 617577
Red DNAH1 in Childhood onset dystonia, chorea or related movement disorder


Level 2: Neurology
Version 7.13
Latest signed off version: v7.0 (30 Apr 2025)

review Not set
Sources
  • Expert Review Red
  • London North GLH