DNAH6:Ensemblv90

dynein axonemal heavy chain 6
OMIM: 603336, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Red DNAH6 in Ciliary Dyskinesia


Level 2: Respiratory disorders
Version 1.68

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Primary ciliary dyskinesia, MONDO:0016575
Tags
  • disputed

Red DNAH6 in Heterotaxy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.44

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Heterotaxy, Azoospermia
Tags
  • disputed

Green DNAH6 in Mendeliome


Version 1.3802

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spermatogenic failure, MONDO:0004983, DNAH6-related

Red DNAH6 in Fetal anomalies


Version 1.482

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Heterotaxy
Tags
  • disputed

Red DNAH6 in Ciliary Dyskinesia


Level 2: Respiratory disorders
Version 2.0

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Primary ciliary dyskinesia, MONDO:0016575
Tags
  • disputed

Red DNAH6 in Heterotaxy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Red
Phenotypes
  • Heterotaxy, Azoospermia
Tags
  • disputed