Activity

Filter

Cancel
Date Panel Item Activity
23 actions
Primary ciliary disorders v1.26 GAS2L2 Arina Puzriakova Deleted their review
Primary ciliary disorders v1.26 GAS2L2 Arina Puzriakova Classified gene: GAS2L2 as Green List (high evidence)
Primary ciliary disorders v1.26 GAS2L2 Arina Puzriakova Gene: gas2l2 has been classified as Green List (High Evidence).
Primary ciliary disorders v1.25 GAS2L2 Arina Puzriakova Tag for-review was removed from gene: GAS2L2.
Primary ciliary disorders v1.25 GAS2L2 Arina Puzriakova Classified gene: GAS2L2 as Amber List (moderate evidence)
Primary ciliary disorders v1.25 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).
Primary ciliary disorders v1.25 GAS2L2 Arina Puzriakova Gene: gas2l2 has been classified as Amber List (Moderate Evidence).
Primary ciliary disorders v1.24 GAS2L2 Arina Puzriakova Tag for-review tag was added to gene: GAS2L2.
Primary ciliary disorders v1.24 GAS2L2 Eleanor Williams Classified gene: GAS2L2 as Green List (high evidence)
Primary ciliary disorders v1.24 GAS2L2 Eleanor Williams Added comment: Comment on list classification: Promoting to Green based on expert review. Gene has been updated with Ensembl gene identifiers.
Primary ciliary disorders v1.24 GAS2L2 Eleanor Williams Gene: gas2l2 has been classified as Green List (High Evidence).
Primary ciliary disorders v1.22 GAS2L2 Eleanor Williams Classified gene: GAS2L2 as Amber List (moderate evidence)
Primary ciliary disorders v1.22 GAS2L2 Eleanor Williams Added comment: Comment on list classification: Demoting to Amber for now as this gene currently has no Ensembl IDs in PanelApp. Will promote to green again when this issue is resolved.
Primary ciliary disorders v1.22 GAS2L2 Eleanor Williams Gene: gas2l2 has been classified as Amber List (Moderate Evidence).
Primary ciliary disorders v1.21 GAS2L2 Eleanor Williams Classified gene: GAS2L2 as Green List (high evidence)
Primary ciliary disorders v1.21 GAS2L2 Eleanor Williams Added comment: Comment on list classification: After consultation with the Genomics England clinical team it was decided to change the rating of this gene from Amber to Green based on the additional green expert review.
Primary ciliary disorders v1.21 GAS2L2 Eleanor Williams Gene: gas2l2 has been classified as Green List (High Evidence).
Primary ciliary disorders v1.20 GAS2L2 Eleanor Williams Phenotypes for gene: GAS2L2 were changed from Primary ciliary dyskinesia to Primary ciliary dyskinesia; ?Ciliary dyskinesia, primary, 41 618449
Primary ciliary disorders v1.19 GAS2L2 Matthew Edwards reviewed gene: GAS2L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30665704; Phenotypes: OMIM 618449 Ciliary dyskinesia, primary, 41; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Primary ciliary disorders v1.17 GAS2L2 Louise Daugherty Publications for gene: GAS2L2 were set to PMID: 30665704
Primary ciliary disorders v1.16 GAS2L2 Anna de Burca Classified gene: GAS2L2 as Amber List (moderate evidence)
Primary ciliary disorders v1.16 GAS2L2 Anna de Burca Gene: gas2l2 has been classified as Amber List (Moderate Evidence).
Primary ciliary disorders v1.15 GAS2L2 Anna de Burca gene: GAS2L2 was added
gene: GAS2L2 was added to Primary ciliary disorders. 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 PMID: 30665704
Phenotypes for gene: GAS2L2 were set to Primary ciliary dyskinesia
Review for gene: GAS2L2 was set to AMBER
Added comment: 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