DNAH9 dynein axonemal heavy chain 9

Gene info

Synonyms

None

Previous symbol

DNAH17L

External ID

HGNC: 2953
Entrez Gene: 1770
Ensembl: ENSG00000007174
UCSC: uc002gne.3
OMIM: 603330
UniProtKB: Q9NYC9

Disease info

Disease

None

CHD Phenotype

  • Heterotaxy

Extra Cardiac Phenotype

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

1

MGI ID

1289279

Variant info

Clinvar

DNAH9

Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic , Likely Pathogenic or Pathogenic/Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

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Selected References

  1. https://panelapp-aus.org/panels/76/gene/DNAH9/