Respiratory ciliopathies including non-CF bronchiectasis
Gene: DNAI1EnsemblGeneIds (GRCh38): ENSG00000122735
EnsemblGeneIds (GRCh37): ENSG00000122735
OMIM: 604366, Gene2Phenotype
DNAI1 is in 11 panels
7 reviews
Louise Daugherty (Genomics England Curator)
Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: DNAI1; Suggested initial gene rating: Green; Evidence for inclusion: OMIM PCD gene or intersection of >2 panels; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 5 Dec 2018, 1:54 p.m.
Ian Berry (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary Ciliary Dyskinesia; Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400
Variants in this GENE are reported as part of current diagnostic practice
Helen Brittain (Genomics England Curator)
Two reported cases with Respiratory presentation/ infertility but no reported cardiac association. Evidence considered amber for cardiac isomerism / laterality phenotypeCreated: 4 Jul 2017, 7:25 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary Ciliary Dyskinesia; Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400; situs inversus
Caroline Wright (Genomics England Curator)
Comment when marking as ready: Reviewed with team while reviewing non-CF BronchiectasisCreated: 10 May 2016, 8:30 a.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Associated with Ciliary dyskinesia, primary, and is green on the Primary Ciliary dyskinesia gene panel. Should remain red for this panel.Created: 10 May 2016, 8:24 a.m.
Hannah Mitchison (UCL and GOSH)
UK mutations reportedCreated: 8 Dec 2015, 4:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 1, with or without situs inversus
Publications
- PMID:10577904
Variants in this GENE are reported as part of current diagnostic practice
Anthony De Soyza (NEWCASTLE university/ freeman hospital bronchiectasis service)
Important to exclude the known PCD variants in suspected idiopathic bronchiectasisCreated: 17 Oct 2015, 7:23 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
PCD phenotypes
Publications
- PMID: 18950741
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400
- Primary Ciliary Dyskinesia
- Bronchiectasis
- OMIM
- 604366
- Clinvar variants
- Variants in DNAI1
- 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
Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene DNAI1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400; Primary Ciliary Dyskinesia; Bronchiectasis for gene: DNAI1
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to DNAI1. Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: DNAI1 was added gene: DNAI1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: DNAI1 was set to