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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 |