Activity

Filter

Cancel
Date Panel Item Activity
27 actions
Respiratory ciliopathies including non-CF bronchiectasis v4.50 GAS2L2 Eleanor Williams Tag Q3_24_promote_green was removed from gene: GAS2L2.
Respiratory ciliopathies including non-CF bronchiectasis v4.50 GAS2L2 Eleanor Williams edited their review of gene: GAS2L2: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Respiratory ciliopathies including non-CF bronchiectasis v4.49 GAS2L2 Eleanor Williams Source NHS GMS was added to GAS2L2.
Source Expert Review Green was added to GAS2L2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v4.42 GAS2L2 Achchuthan Shanmugasundram commented on gene: GAS2L2: The ClinGen Motile Ciliopathy expert panel has classified the association of GAS2L2 gene to ciliary dyskinesia, primary, 41 (MONDO:0032757) as 'Moderate'. More information can be found in https://search.clinicalgenome.org/CCID:004922.
Respiratory ciliopathies including non-CF bronchiectasis v4.19 GAS2L2 Achchuthan Shanmugasundram Tag watchlist was removed from gene: GAS2L2.
Respiratory ciliopathies including non-CF bronchiectasis v3.14 GAS2L2 Achchuthan Shanmugasundram Classified gene: GAS2L2 as Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v3.14 GAS2L2 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated cases and functional evidence available in support of the association of GAS2L2 with primary ciliary dyskinesia. Hence, this gene can be promoted to green rating in the next GMS update.
Respiratory ciliopathies including non-CF bronchiectasis v3.14 GAS2L2 Achchuthan Shanmugasundram Gene: gas2l2 has been classified as Amber List (Moderate Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v3.13 GAS2L2 Achchuthan Shanmugasundram Phenotypes for gene: GAS2L2 were changed from Primary ciliary dyskinesia to ?Ciliary dyskinesia, primary, 41, OMIM:618449
Respiratory ciliopathies including non-CF bronchiectasis v3.12 GAS2L2 Achchuthan Shanmugasundram Publications for gene: GAS2L2 were set to 30665704
Respiratory ciliopathies including non-CF bronchiectasis v3.11 GAS2L2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: GAS2L2.
Respiratory ciliopathies including non-CF bronchiectasis v3.11 GAS2L2 Achchuthan Shanmugasundram changed review comment from: PMID:36104176 reported the identification of a novel homozygous GAS2L2 variant (c.182C>T/ p.Thr61Met) in two sisters of Japanese descent with primary ciliary dyskinesia.; to: PMID:36104176 reported the identification of a novel homozygous GAS2L2 variant (c.182C>T/ p.Thr61Met) in two sisters of Japanese descent with primary ciliary dyskinesia.
Respiratory ciliopathies including non-CF bronchiectasis v3.11 GAS2L2 Achchuthan Shanmugasundram reviewed gene: GAS2L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 36104176; Phenotypes: ?Ciliary dyskinesia, primary, 41, OMIM:618449; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Respiratory ciliopathies including non-CF bronchiectasis v1.55 GAS2L2 Ivone Leong Tag for-review was removed from gene: GAS2L2.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 GAS2L2 Ivone Leong changed review comment from: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 GAS2L2 Ivone Leong commented on gene: GAS2L2: Submitted 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."
Respiratory ciliopathies including non-CF bronchiectasis v1.55 GAS2L2 Ivone Leong commented on gene: GAS2L2
Respiratory ciliopathies including non-CF bronchiectasis v1.8 GAS2L2 Arina Puzriakova Classified gene: GAS2L2 as Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v1.8 GAS2L2 Arina Puzriakova Added comment: 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).
Respiratory ciliopathies including non-CF bronchiectasis v1.8 GAS2L2 Arina Puzriakova Gene: gas2l2 has been classified as Amber List (Moderate Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v1.7 GAS2L2 Arina Puzriakova Tag for-review tag was added to gene: GAS2L2.
Respiratory ciliopathies including non-CF bronchiectasis v1.7 GAS2L2 Eleanor Williams Classified gene: GAS2L2 as Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v1.7 GAS2L2 Eleanor Williams Added comment: 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.
Respiratory ciliopathies including non-CF bronchiectasis v1.7 GAS2L2 Eleanor Williams Gene: gas2l2 has been classified as Green List (High Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v0.144 GAS2L2 Louise Daugherty Classified gene: GAS2L2 as Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.144 GAS2L2 Louise Daugherty Gene: gas2l2 has been classified as Amber List (Moderate Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v0.143 GAS2L2 Louise Daugherty 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
Added comment: 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 Review