Laterality disorders and isomerismGene: DNAL1
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
OMIM 614017 Ciliary dyskinesia, primary, 16
Variants in this GENE are reported as part of current diagnostic practice
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.
Gene: dnal1 has been classified as Amber List (Moderate Evidence).
Publications for gene: DNAL1 were set to
Phenotypes for gene: DNAL1 were changed from to Ciliary dyskinesia, primary, 16, 614017
Mode of inheritance for gene: DNAL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Source Expert Review Green was added to DNAL1. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: DNAL1 was added gene: DNAL1 was added to Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: DNAL1 was set to