Laterality disorders and isomerism
Gene: DAND5EnsemblGeneIds (GRCh38): ENSG00000179284
EnsemblGeneIds (GRCh37): ENSG00000179284
OMIM: 609068, Gene2Phenotype
DAND5 is in 2 panels
1 review
Arina Puzriakova (Genomics England Curator)
In a single individual with heterotaxy and congenital heart defects of L-R patterning, Bolkier et al., 2022 (PMID:34215651) identified a homozygous truncating (c.396_397dupCT) variant in the DAND5 gene.
Sources: LiteratureCreated: 13 Jul 2022, 4:06 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Heterotaxy syndrome
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Literature
- Phenotypes
-
- Heterotaxy syndrome
- OMIM
- 609068
- Clinvar variants
- Variants in DAND5
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
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 Laterality disorders and isomerism. Sources: Literature Mode of inheritance for gene: DAND5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DAND5 were set to 34215651 Phenotypes for gene: DAND5 were set to Heterotaxy syndrome