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  3. DNAH6
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Laterality disorders and isomerism

Gene: DNAH6

Amber List (moderate evidence)
DNAH6 (dynein axonemal heavy chain 6)
EnsemblGeneIds (GRCh38): ENSG00000115423
EnsemblGeneIds (GRCh37): ENSG00000115423
OMIM: 603336, Gene2Phenotype
DNAH6 is in 2 panels

2 reviews

Ivone Leong (Genomics England Curator)

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
Created: 8 Sep 2020, 10:14 a.m.
Last Modified: 8 Sep 2020, 10:14 a.m.
Panel version: 1.19

Zornitza Stark (Australian Genomics)

I don't know

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

Phenotypes
Heterotaxy; male infertility

Publications

Created: 1 Jun 2020, 8:28 a.m.

Panel version: 1.5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Heterotaxy
  • male infertility
Tags
watchlist
OMIM
603336
Clinvar variants
Variants in DNAH6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Sep 2020, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag watchlist tag was added to gene: DNAH6.

8 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: dnah6 has been classified as Amber List (Moderate Evidence).

1 Jun 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

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