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  3. DAND5
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Fetal anomalies

Gene: DAND5

Amber List (moderate evidence)
DAND5 (DAN domain BMP antagonist family member 5)
EnsemblGeneIds (GRCh38): ENSG00000179284
EnsemblGeneIds (GRCh37): ENSG00000179284
OMIM: 609068, Gene2Phenotype
DAND5 is in 2 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

I don't know

New gene added to this panel with an Amber rating, inline with the recent review by the R21 Clinical Oversight Group.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 5 Sep 2025, 4:41 p.m.
Panel Version: 6.29
Created: 5 Sep 2025, 4:41 p.m.
Last Modified: 5 Sep 2025, 4:41 p.m.
Panel version: 6.29

Elizabeth Wall (Birmingham Women's and Children's Hospital)

I don't know

This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 4:31 p.m. | Last Modified: 5 Sep 2025, 4:31 p.m.
Panel Version: 6.28
Gene-disease: Disputed link with congenital heart disease (Clingen, 2024) and red on laterality disorders panel. PMID 34215651 and 36316122: 2 unrelated cases with laterality disorder and homozygous frameshift variant, consanguineous parents. 1 case supported with functional studies (abnormal nodal signalling). Knock out mouse models - laterality disorder. Other papers PMID: 28738792 2 case with HETROZYGOUS missense variant a/w CHD and reduced protein, PMID: 28230599 1 case with tetralogy of fallot and missense variant, but a no functional studies, other variants identified and equivocal in-silico scores.
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Heterotaxy, visceral, 13, autosomal

Publications

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 6.28

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Heterotaxy, visceral, 13, autosomal
OMIM
609068
Clinvar variants
Variants in DAND5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Sep 2025, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: DAND5 was added gene: DAND5 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: DAND5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DAND5 were set to 36316122; 34215651 Phenotypes for gene: DAND5 were set to Heterotaxy, visceral, 13, autosomal