Heterotaxy
Gene: DNAH9
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
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 listCreated: 1 Jun 2020, 1:19 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 40 618300
Publications
Gene: dnah9 has been classified as Green List (High Evidence).
Gene: dnah9 has been classified as Green List (High Evidence).
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