Ductal plate malformation
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
1 review
Ivone Leong (Genomics England Curator)
Red gene on Rare ciliopathy panel. Demoted from amber to red as insufficient evidenceCreated: 12 Nov 2018, 1:55 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- UKGTN
- Phenotypes
-
- Ciliary dyskinesia, primary, 1, with or without situs inversus (244400)
- 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
30 Nov 2018, Gel status: 1
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Ivone Leong: Red gene on Rare ciliopathy pa
12 Nov 2018, Gel status: 1
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Red was added to DNAI1. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
6 Nov 2018, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: DNAI1 was added gene: DNAI1 was added to Ductal plate malformation (DPM). Sources: UKGTN,Emory Genetics Laboratory Mode of inheritance for gene: DNAI1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAI1 were set to Ciliary dyskinesia, primary, 1, with or without situs inversus (244400)