Laterality disorders and isomerism

Gene: DNAI1

Green List (high evidence)

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

Phenotypes
OMIM 244400 Ciliary dyskinesia, primary, 1, with or without situs inversus

Publications

• 10577904
• 11231901

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

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.