Paediatric disorders - additional genes
Gene: DNAH11
DNAH11 (dynein axonemal heavy chain 11)
EnsemblGeneIds (GRCh38): ENSG00000105877
EnsemblGeneIds (GRCh37): ENSG00000105877
OMIM: 603339, Gene2Phenotype
DNAH11 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000105877
EnsemblGeneIds (GRCh37): ENSG00000105877
OMIM: 603339, Gene2Phenotype
DNAH11 is in 11 panels
1 review
Ellen McDonagh (Genomics England Curator)
This gene was submitted by Rebecca Whittington on behalf of the South West GLH, for inclusion on the Paediatric disorders panel (https://panelapp.genomicsengland.co.uk/panels/486/)Created: 26 Nov 2019, 2:38 p.m. | Last Modified: 26 Nov 2019, 2:38 p.m.
Panel Version: 0.35
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 7, with or without situs inversus
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- South West GLH
- Phenotypes
-
- Ciliary dyskinesia, primary, 7, with or without situs inversus
- OMIM
- 603339
- Clinvar variants
- Variants in DNAH11
- Penetrance
- None
- Panels with this gene
-
- Laterality disorders and isomerism
- Non-CF bronchiectasis
- Respiratory ciliopathies including non-CF bronchiectasis
- Paediatric disorders - additional genes
- Ductal plate malformation
- Familial pulmonary fibrosis
- Skeletal dysplasia
- Fetal anomalies
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
26 Nov 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: DNAH11 was added gene: DNAH11 was added to Paediatric disorders - additional genes. Sources: South West GLH Mode of inheritance for gene: DNAH11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAH11 were set to Ciliary dyskinesia, primary, 7, with or without situs inversus