Respiratory ciliopathies including non-CF bronchiectasis
Gene: GAS2L2Submitted on behalf of NHS GMS "There is limited evidence. Quoted study has not done detailed familial segregation, only 2 unrelated individuals, but each had a variant in common. I do not see that we will be able to classify variants as pathogenic without further evidence. Only 8 variants in HGMD, 6 of uncertain significancen and 2 pathogenic (both from Bustamante-Marin). This gene would benefit from further research, it may be too early to be used diagnostically. Amber genes can be included in panel designs for this research."Created: 8 Mar 2022, 11:15 a.m. | Last Modified: 8 Mar 2022, 11:15 a.m.
Panel Version: 1.55
After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.Created: 8 Mar 2022, 11:15 a.m. | Last Modified: 8 Mar 2022, 11:19 a.m.
Panel Version: 1.55
Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).Created: 20 Oct 2020, 3:13 p.m. | Last Modified: 20 Oct 2020, 3:13 p.m.
Panel Version: 1.8
Comment on list classification: Upgrading from amber to green, based on Expert review on the Primary ciliary disorders panel (https://panelapp.genomicsengland.co.uk/panels/178/gene/GAS2L2/). 2 cases plus animal model.Created: 4 May 2020, 1:55 p.m. | Last Modified: 4 May 2020, 1:55 p.m.
Panel Version: 1.7
Review added to Primary ciliary disorders panel, gene recommend by Hannah Mitchison. PMID: 30665704 reports two unrelated individuals with clinical features of primary ciliary dyskinesia, one of whom had a homozygous frameshift variant in GAS2L2; the other was a compound heterozygote for the same variant and an intragenic deletion in GAS2L2. Cultured cells from one of the patients showed evidence of ciliary dysfunction and there was functional evidence of ciliary dysfunction in Xenopus and mouse knockouts. Sources: Expert Review
Anna de Burca (Genomics England Curator), 24 Jan 2019
Sources: Expert ReviewCreated: 16 May 2019, 12:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary ciliary dyskinesia
Publications
Tag for-review was removed from gene: GAS2L2.
Gene: gas2l2 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: GAS2L2.
Gene: gas2l2 has been classified as Green List (High Evidence).
Gene: gas2l2 has been classified as Amber List (Moderate Evidence).
gene: GAS2L2 was added gene: GAS2L2 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Expert Review watchlist tags were added to gene: GAS2L2. Mode of inheritance for gene: GAS2L2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAS2L2 were set to 30665704 Phenotypes for gene: GAS2L2 were set to Primary ciliary dyskinesia Review for gene: GAS2L2 was set to AMBER