Laterality disorders and isomerismGene: DNAH6
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). Based on the evidence there is not enough evidence to support a gene-disease association. This gene has been given an Amber gene rating until further evidence is available.
Created: 8 Sep 2020, 10:14 a.m. | Last Modified: 8 Sep 2020, 10:14 a.m.
Panel Version: 1.19
PMID: 26918822 - zebrafish model has disrupted motile cilia and cilia length, with some body axis defects within embryos. Transfected human cells also had defective motile cilia and cilia width. Two patients with heterotaxy, one homozygous (missense), the other heterozygous (missense), but the heterozygous carrier has an additional known PCD mutation in DNA1. Summary: 1 convincing patient with animal model
Sources: Expert list
Created: 1 Jun 2020, 8:28 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Heterotaxy; male infertility
Tag watchlist tag was added to gene: DNAH6.
Gene: dnah6 has been classified as Amber List (Moderate Evidence).
gene: DNAH6 was added gene: DNAH6 was added to Laterality disorders and isomerism. Sources: Expert list Mode of inheritance for gene: DNAH6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAH6 were set to 26918822 Phenotypes for gene: DNAH6 were set to Heterotaxy; male infertility Review for gene: DNAH6 was set to AMBER