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  3. DNAH5
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Congenital Heart Defect

Gene: DNAH5

Green List (high evidence)
DNAH5 (dynein axonemal heavy chain 5)
EnsemblGeneIds (GRCh38): ENSG00000039139
EnsemblGeneIds (GRCh37): ENSG00000039139
OMIM: 603335, Gene2Phenotype
DNAH5 is in 12 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Panel includes both isolated and complex CHD.
Created: 15 Jul 2022, 10:07 a.m. | Last Modified: 15 Jul 2022, 10:07 a.m.
Panel Version: 0.224

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 3, with or without situs inversus, MIM# 608644

Created: 15 Jul 2022, 10:07 a.m.
Last Modified: 15 Jul 2022, 10:07 a.m.
Panel version: 0.224

Chloe Stutterd (Victorian Clinical Genetics Services)

I don't know

Gene included in Victor Chang CHD gene list but all references to CHD are in association with heterotaxy. PMID 31638833: 8/132 (6.1%) patients with DNAH5-associated primary ciliary dyskinesia presented with CHD (septal defects with or without valve and vessel defects) and all had heterotaxy (three with situs solitus and five had situs inversus).
Sources: Expert list, Literature
Created: 15 Jul 2022, 3:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Atrial septal defect; Ventricular septal defect; Atrioventricular septal defect; Transposition of the great arteries

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 15 Jul 2022, 3:33 a.m.

Panel version: 0.219

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliary dyskinesia, primary, 3, with or without situs inversus, MIM# 608644
OMIM
603335
Clinvar variants
Variants in DNAH5
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

15 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dnah5 has been classified as Green List (High Evidence).

15 Jul 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DNAH5 were changed from Atrial septal defect; Ventricular septal defect; Atrioventricular septal defect; Transposition of the great arteries to Ciliary dyskinesia, primary, 3, with or without situs inversus, MIM# 608644

15 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dnah5 has been classified as Green List (High Evidence).

15 Jul 2022, Gel status: 0

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

Chloe Stutterd (Victorian Clinical Genetics Services)

gene: DNAH5 was added gene: DNAH5 was added to Congenital Heart Defect. Sources: Expert list,Literature Mode of inheritance for gene: DNAH5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAH5 were set to 31638833 Phenotypes for gene: DNAH5 were set to Atrial septal defect; Ventricular septal defect; Atrioventricular septal defect; Transposition of the great arteries Penetrance for gene: DNAH5 were set to unknown Review for gene: DNAH5 was set to AMBER gene: DNAH5 was marked as current diagnostic