This Panel is marked as Internal
Isomerism and laterality disorders
Gene: DNAI1
DNAI1 (dynein axonemal intermediate chain 1)
EnsemblGeneIds (GRCh38): ENSG00000122735
EnsemblGeneIds (GRCh37): ENSG00000122735
OMIM: 604366, Gene2Phenotype
DNAI1 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000122735
EnsemblGeneIds (GRCh37): ENSG00000122735
OMIM: 604366, Gene2Phenotype
DNAI1 is in 11 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- UKGTN
- Literature
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Primary Ciliary Dyskinesia
- Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400
- situs inversus
- OMIM
- 604366
- Clinvar variants
- Variants in DNAI1
- Penetrance
- Complete
- Publications
-
- DOI: 10.1161/CIRCULATIONAHA.106.649038
- Panels with this gene
-
- Laterality disorders and isomerism
- Paediatric disorders - additional genes
- Non-CF bronchiectasis
- Respiratory ciliopathies including non-CF bronchiectasis
- Ductal plate malformation
- Familial pulmonary fibrosis
- Fetal anomalies
- Skeletal dysplasia
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
16 May 2016, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)DNAI1 was added to Isomerism and laterality disorderspanel. Source: UKGTN
16 May 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)DNAI1 was added to Isomerism and laterality disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Literature
16 May 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)DNAI1 was created by ellenmcdonagh