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| Laterality disorders and isomerism v1.19 | DNAH6 | Ivone Leong Tag watchlist tag was added to gene: DNAH6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.19 | DNAH6 | Ivone Leong Classified gene: DNAH6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.19 | DNAH6 | Ivone Leong Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.19 | DNAH6 | Ivone Leong Gene: dnah6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.5 | DNAH6 |
Zornitza Stark 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 Added comment: 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 |
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