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  2. Heterotaxy
  3. DAND5
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Heterotaxy

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two individuals reported with bi-allelic LoF variants and heterotaxy.
Sources: Literature
Created: 4 Feb 2025, 1:03 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Heterotaxy, visceral, 13, autosomal, MIM# 621079

Publications

Created: 4 Feb 2025, 1:03 a.m.

Panel version: 1.33

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Heterotaxy, visceral, 13, autosomal, MIM# 621079
OMIM
609068
Clinvar variants
Variants in DAND5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Feb 2025, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dand5 has been classified as Amber List (Moderate Evidence).

4 Feb 2025, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dand5 has been classified as Amber List (Moderate Evidence).

4 Feb 2025, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DAND5 was added gene: DAND5 was added to Heterotaxy. Sources: Literature 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, MIM# 621079 Review for gene: DAND5 was set to AMBER