Heterotaxy
Gene: DNAH2
DNAH2 (dynein axonemal heavy chain 2)
EnsemblGeneIds (GRCh38): ENSG00000183914
EnsemblGeneIds (GRCh37): ENSG00000183914
OMIM: 603333, Gene2Phenotype
DNAH2 is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000183914
EnsemblGeneIds (GRCh37): ENSG00000183914
OMIM: 603333, Gene2Phenotype
DNAH2 is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Novel candidate gene identified in a fetus with hydrops and complex cardiopathy detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including hydrops, heterotaxy, complex cardiopathy, hypotrophic splenium, and common mesentery. Compound heterozygous variants including a truncating variant were found by exome sequencing.
Sources: LiteratureCreated: 11 Jun 2021, 8:22 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hydrops; complex congenital heart disease; heterotaxy
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Hydrops
- complex congenital heart disease
- heterotaxy
- OMIM
- 603333
- Clinvar variants
- Variants in DNAH2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
11 Jun 2021, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dnah2 has been classified as Red List (Low Evidence).
11 Jun 2021, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: DNAH2 was added gene: DNAH2 was added to Heterotaxy. Sources: Literature Mode of inheritance for gene: DNAH2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAH2 were set to 32732226 Phenotypes for gene: DNAH2 were set to Hydrops; complex congenital heart disease; heterotaxy Review for gene: DNAH2 was set to RED