Skeletal dysplasia
Gene: DNAH11

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

2 reviews

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, 9:30 a.m. | Last Modified: 18 Oct 2020, 9:30 a.m.

Panel Version: 0.5016

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 18 Oct 2020, 9:30 a.m.
Last Modified: 18 Oct 2020, 9:30 a.m.
Panel version: Imported from Mendeliome panel version 0.5016

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 7, with or without situs inversus

Created: 31 Jan 2020, 2:56 a.m.
Last Modified: 31 Jan 2020, 2:56 a.m.
Panel version: Imported from Mendeliome panel version 0.1069

Details

Sources

Expert Review Green
Emory Genetics Laboratory
Victorian Clinical Genetics Services

OMIM

603339

Clinvar variants

Variants in DNAH11

Penetrance

None

Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DNAH11 was added gene: DNAH11 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory Mode of inheritance for gene: DNAH11 was set to

Skeletal dysplasia Gene: DNAH11