Laterality disorders and isomerismGene: DNAI1
On CGGL Royal Brompton panel. Bi-allelic variants in patients with PCD with dextrocardia detected. Good literature evidence
DNAI1 encodes the axonemal dynein intermediate-chain 1, a component of the ciliary outer dynein arm. Pathogenic variants in DNAI1 are associated with autosomal recessive PCD. Loss of function is a known disease mechanism (Pennarun et al 1999 Am J Hum Genet 65:1508-1519; Guichard et al 2001 Am J Hum Genet 68:1030-1035). Has WD-40 repeat, which is a functional domain, coordinating protein complex assemblies, serving as a scaffold
Created: 25 Nov 2019, 10:36 p.m. | Last Modified: 25 Nov 2019, 10:36 p.m.
Panel Version: 0.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
OMIM 244400 Ciliary dyskinesia, primary, 1, with or without situs inversus
Variants in this GENE are reported as part of current diagnostic practice
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 or Visceral heterotaxy gene; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 5 Dec 2018, 12:52 p.m.
Phenotypes for gene: DNAI1 were changed from to Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400
Publications for gene: DNAI1 were set to
Mode of inheritance for gene: DNAI1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Source Expert Review Green was added to DNAI1. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: DNAI1 was added gene: DNAI1 was added to Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: DNAI1 was set to