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  3. DNAH9
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Heterotaxy

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Additional families reported, including with significant congenital heart disease.
Created: 4 Aug 2022, 6:17 a.m. | Last Modified: 4 Aug 2022, 6:17 a.m.
Panel Version: 1.20

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 40 618300; Heterotaxy

Publications

Created: 4 Aug 2022, 6:17 a.m.
Last Modified: 4 Aug 2022, 6:17 a.m.
Panel version: 1.20

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

OMIM: Situs inversus of the heart

PMID: 30471717 - 4 patients (3 families) all with PCD and situs inversus.

PMID: 30471718 - 5 families with situs inversus totalis and/or heterotaxy
Sources: Expert list
Created: 1 Jun 2020, 1:19 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 40 618300

Publications

Created: 1 Jun 2020, 1:19 a.m.

Panel version: 0.75

Details

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

History Filter Activity

1 Jun 2020, 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).

1 Jun 2020, 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).

1 Jun 2020, Gel status: 0

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

Elena Savva (Victorian Clinical Genetics Services)

gene: DNAH9 was added gene: DNAH9 was added to Heterotaxy. Sources: Expert list Mode of inheritance for gene: DNAH9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAH9 were set to PMID: 30471717; 30471718 Phenotypes for gene: DNAH9 were set to Ciliary dyskinesia, primary, 40 618300 Review for gene: DNAH9 was set to GREEN