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Fetal anomalies

Gene: DNAH11

Green List (high evidence)

DNAH11 (dynein axonemal heavy chain 11)
EnsemblGeneIds (GRCh38): ENSG00000105877
EnsemblGeneIds (GRCh37): ENSG00000105877
OMIM: 603339, Gene2Phenotype
DNAH11 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 unrelated families reported, heterotaxy is variable.
Created: 18 Oct 2020, 9:28 a.m. | Last Modified: 18 Oct 2020, 9:28 a.m.
Panel Version: 0.134

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • 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

1 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dnah11 has been classified as Green List (High Evidence).

1 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DNAH11 were changed from Primary ciliary dyskinesia 611884 to Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884

1 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DNAH11 were set to

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DNAH11 was added gene: DNAH11 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: DNAH11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAH11 were set to Primary ciliary dyskinesia 611884