Fetal anomalies
Gene: DNAH5

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

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 4 Apr 2019, 2:03 p.m.

Comment on list classification: Updated rating from Amber to Green following advice from Fetal expert, Deirdre Cilliers that heterotaxy phenotype is prenatally-relevant. Originally rated Amber on the panel based on different PAGE/DDG2P ratings for different disorders.
Created: 11 Feb 2019, 2:11 p.m.

Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019) to support Green rating: Yes [DNAH5 should be on the Fetal anomalies panel]. The prenatal phenotype would be heterotaxy and often seen on ultrasound scan and about half of affected pregnancies with this mutation would have this phenotype.
Created: 11 Feb 2019, 2:09 p.m.

'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Created: 8 Nov 2018, 8:58 p.m.

In the original PAGE file: rated as Probable for CILIARY DYSKINESIA, PRIMARY, 3, and rated as Confirmed in the Additional gene list.
Created: 8 Nov 2018, 4:45 p.m.

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.161

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
PAGE Additional Gene List
PAGE DD-Gene2Phenotype

Phenotypes

CILIARY DYSKINESIA, PRIMARY, 3
Primary ciliary dyskinesia 608644
heterotaxy

Tags

watchlist

OMIM

603335

Clinvar variants

Variants in DNAH5

Penetrance

None

Panels with this gene