Primary ciliary disorders
Gene: DNAH1
DNAH1 (dynein axonemal heavy chain 1)
EnsemblGeneIds (GRCh38): ENSG00000114841
EnsemblGeneIds (GRCh37): ENSG00000114841
OMIM: 603332, Gene2Phenotype
DNAH1 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000114841
EnsemblGeneIds (GRCh37): ENSG00000114841
OMIM: 603332, Gene2Phenotype
DNAH1 is in 5 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM, not in G2P. At least one variant reported in 2 consanguineous Saudi Arabian sisters that segregated with the disease in this family and was not found in controlsCreated: 21 Aug 2017, 10:59 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Ciliary dyskinesia, primary, 37 617577
Publications
Hannah Mitchison (UCL and GOSH)
No UK mutations found. So far only connected in one publication of one family with missense mutations (PMID:25927852)Created: 8 Dec 2015, 4:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Too new - not yet linked to the PCD mutations publication
Mode of pathogenicity
Other - please provide details in the comments
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Too new - not yet linked to the PCD mutations publication
- OMIM
- 603332
- Clinvar variants
- Variants in DNAH1
- Penetrance
- Complete
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
History Filter Activity
10 May 2016, Gel status: 1
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
8 Dec 2015, Gel status: 0
Created
Hannah Mitchison (UCL and GOSH)DNAH1 was created by hmitchis
8 Dec 2015, Gel status: 0
Added New Source
Hannah Mitchison (UCL and GOSH)DNAH1 was added to Primary ciliary disorderspanel. Sources: Expert Review