Laterality disorders and isomerism
Gene: 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
Phenotypes
OMIM 614017 Ciliary dyskinesia, primary, 16
Publications
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 givenCreated: 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