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  3. DNAH1
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Heterotaxy

Gene: DNAH1

Red List (low evidence)
DNAH1 (dynein axonemal heavy chain 1)
EnsemblGeneIds (GRCh38): ENSG00000114841
EnsemblGeneIds (GRCh37): ENSG00000114841
OMIM: 603332, Gene2Phenotype
DNAH1 is in 4 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Red List (low evidence)

PMID: 25927852 - 2 homozygous siblings with a missense variant and PCD. Proband had situs invertus, sibling details unavailable.

PMID: 24360805 - 7 patients (4 different variants) with homozygous variants and infertility due to defective sperm. No mention of patients and situs inversus "Apart from infertility, none of the 20 individuals declared suffering from any of the principal PCD symptoms"

Summary: single report but emerging gene with limited reports
Sources: Expert list
Created: 1 Jun 2020, 12:50 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Ciliary dyskinesia, primary, 37 617577

Publications

Created: 1 Jun 2020, 12:50 a.m.

Panel version: 0.75

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • ?Ciliary dyskinesia, primary, 37 617577
OMIM
603332
Clinvar variants
Variants in DNAH1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jun 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dnah1 has been classified as Red List (Low Evidence).

1 Jun 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dnah1 has been classified as Red List (Low Evidence).

1 Jun 2020, Gel status: 0

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

Elena Savva (Victorian Clinical Genetics Services)

gene: DNAH1 was added gene: DNAH1 was added to Heterotaxy. Sources: Expert list Mode of inheritance for gene: DNAH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAH1 were set to PMID: 25927852; 24360805 Phenotypes for gene: DNAH1 were set to ?Ciliary dyskinesia, primary, 37 617577 Review for gene: DNAH1 was set to RED