This Panel is marked as Internal
Isomerism and laterality disorders
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
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- UKGTN
- Radboud University Medical Center, Nijmegen
- Literature
- Phenotypes
-
- Primary Ciliary Dyskinesia
- Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884
- situs inversus
- OMIM
- 603339
- Clinvar variants
- Variants in DNAH11
- Penetrance
- Complete
- Publications
-
- DOI: 10.1161/CIRCULATIONAHA.106.649038
- Panels with this gene
-
- Rare multisystem ciliopathy disorders
- Skeletal dysplasia
- Non-CF bronchiectasis
- Respiratory ciliopathies including non-CF bronchiectasis
- Laterality disorders and isomerism
- Ductal plate malformation
- Familial pulmonary fibrosis
- Paediatric disorders - additional genes
- Thoracic dystrophies
- Primary ciliary disorders
- Fetal anomalies
History Filter Activity
16 May 2016, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)DNAH11 was added to Isomerism and laterality disorderspanel. Source: UKGTN
16 May 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)DNAH11 was created by ellenmcdonagh
16 May 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)DNAH11 was added to Isomerism and laterality disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Literature