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Fetal anomalies

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

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

Details

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

History Filter Activity

6 Dec 2021, 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).

6 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DNAH9 were changed from Motile Cilia Defects and Situs Inversus to Ciliary dyskinesia, primary, 40, MIM# 618300

24 Oct 2021, Gel status: 3

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 Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: DNAH9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAH9 were set to 30471717; 30471718 Phenotypes for gene: DNAH9 were set to Motile Cilia Defects and Situs Inversus