GMS Respiratory specialist test group Laterality disorders and isomerism
Gene: DNAI1EnsemblGeneIds (GRCh38): ENSG00000122735
EnsemblGeneIds (GRCh37): ENSG00000122735
OMIM: 604366, Gene2Phenotype
DNAI1 is in 11 panels
1 review
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 intial gene rating: Green; Evidence for inclusion: OMIM PCD or Visceral heterotaxy gene; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 26 Nov 2018, 2:25 p.m.
Details
- Sources
-
- Expert Review Green
- NHS GMS
- 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
- Fetal anomalies
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
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 GMS Respiratory specialist test group Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: DNAI1 was set to