Congenital Heart Defect
Gene: DNAH11EnsemblGeneIds (GRCh38): ENSG00000105877
EnsemblGeneIds (GRCh37): ENSG00000105877
OMIM: 603339, Gene2Phenotype
DNAH11 is in 12 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM# 611884
Daniel Flanagan (Victorian Clinical Genetics Services)
Compound het DNAH11 variants reported in 7 families with congenital heart diseases and heterotaxy.
Biallelic DNAH11 variants commonly reported in patients with primary ciliary dyskinesia.
Sources: LiteratureCreated: 2 Nov 2021, 10:41 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital heart diseases; heterotaxy
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Congenital heart diseases
- Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM# 611884
- OMIM
- 603339
- Clinvar variants
- Variants in DNAH11
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dnah11 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: DNAH11 were changed from Congenital heart diseases; heterotaxy to Congenital heart diseases; Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM# 611884
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: DNAH11 were set to PMID: 31040315; 32633470
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dnah11 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Daniel Flanagan (Victorian Clinical Genetics Services)gene: DNAH11 was added gene: DNAH11 was added to Congenital Heart Defect. Sources: Literature Mode of inheritance for gene: DNAH11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAH11 were set to PMID: 31040315; 32633470 Phenotypes for gene: DNAH11 were set to Congenital heart diseases; heterotaxy Review for gene: DNAH11 was set to GREEN