| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| 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 |
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