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  3. DNAH9
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Congenital Heart Defect

Gene: DNAH9

Green List (high evidence)
DNAH9 (dynein axonemal heavy chain 9)
EnsemblGeneIds (GRCh38): ENSG00000007174
EnsemblGeneIds (GRCh37): ENSG00000007174
OMIM: 603330, Gene2Phenotype
DNAH9 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple families reported including with significant CHD.
Sources: Literature
Created: 4 Aug 2022, 6:19 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 40 618300; Heterotaxy

Publications

Created: 4 Aug 2022, 6:19 a.m.

Panel version: 0.257

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ciliary dyskinesia, primary, 40 618300
  • Heterotaxy
OMIM
603330
Clinvar variants
Variants in DNAH9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Aug 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dnah9 has been classified as Green List (High Evidence).

4 Aug 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dnah9 has been classified as Green List (High Evidence).

4 Aug 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DNAH9 was added gene: DNAH9 was added to Congenital Heart Defect. Sources: Literature Mode of inheritance for gene: DNAH9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAH9 were set to 35116053; 35050399; 30471717; 30471718 Phenotypes for gene: DNAH9 were set to Ciliary dyskinesia, primary, 40 618300; Heterotaxy Review for gene: DNAH9 was set to GREEN