Laterality disorders and isomerism

Gene: DNAL1

I don't know

Currently on CGGL Royal Brompton panel. No variants detected to date. Only single literature reference describing homozygous variants in Bedouin family. Need more evidence before inclusion as green gene.

Created: 25 Nov 2019, 10:44 p.m. | Last Modified: 25 Nov 2019, 10:44 p.m.

Panel Version: 0.51

Phenotypes
OMIM 614017 Ciliary dyskinesia, primary, 16

Publications

• 21496787

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

Green List (high evidence)

Comment on list classification: Downgraded from Green to Amber after expert review. Change of rating will be included in update with Test Group to enable further comment/review if required before sign off.

Created: 27 Nov 2019, 1:11 p.m. | Last Modified: 27 Nov 2019, 1:11 p.m.

Panel Version: 0.134

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: DNAL1; 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.