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Ciliary Dyskinesia

Gene: DNAH6

Amber List (moderate evidence)
DNAH6 (dynein axonemal heavy chain 6)
EnsemblGeneIds (GRCh38): ENSG00000115423
EnsemblGeneIds (GRCh37): ENSG00000115423
OMIM: 603336, Gene2Phenotype
DNAH6 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Both mono- and bi-allelic variants described, some suggestion of oligogenic inheritance.
Created: 25 May 2020, 6:50 a.m. | Last Modified: 25 May 2020, 6:50 a.m.
Panel Version: 0.79

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Heterotaxy; male infertility

Publications

Created: 25 May 2020, 6:50 a.m.
Last Modified: 25 May 2020, 6:50 a.m.
Panel version: 0.79

Elena Savva (Victorian Clinical Genetics Services)

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.

PMID: 28206990 - 1 homozygous family (2 siblings) with azoospermia. Authors note no recurrent respiratory infections

PMID: 31676830 - 2 chet unrelated families with spermatogenesis defects, and specifically noted to have no PCD manifestations. Phenotypes included sperm flagella defects. Patients carried missense and frameshift mutations.

PMID: 29356036 - 1 chet patient (missense) with globozoospermia and acephalic spermatozoa. Functional analysis showed near null gene expression.

Summary: Multiple patients + animal model with some features of PCD but nothing convincing
Sources: Expert list
Created: 25 May 2020, 2:19 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Heterotaxy, Azoospermia

Publications

Created: 25 May 2020, 2:19 a.m.

Panel version: 0.76

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Heterotaxy, Azoospermia
OMIM
603336
Clinvar variants
Variants in DNAH6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 May 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

25 May 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DNAH6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

25 May 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

25 May 2020, Gel status: 0

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

Elena Savva (Victorian Clinical Genetics Services)

gene: DNAH6 was added gene: DNAH6 was added to Ciliary Dyskinesia. Sources: Expert list Mode of inheritance for gene: DNAH6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DNAH6 were set to PMID: 26918822; 28206990; 31676830; 29356036 Phenotypes for gene: DNAH6 were set to Heterotaxy, Azoospermia Review for gene: DNAH6 was set to AMBER