Activity

Filter

Cancel
Date Panel Item Activity
130 actions
Periodic fever syndromes v1.12 APOC2 Eleanor Williams commented on gene: APOC2: Added missense tag.
Periodic fever syndromes v1.12 APOC2 Eleanor Williams Tag missense tag was added to gene: APOC2.
Periodic fever syndromes v1.12 APOC2 Eleanor Williams Classified gene: APOC2 as Green List (high evidence)
Periodic fever syndromes v1.12 APOC2 Eleanor Williams Added comment: Comment on list classification: After consultation with the Genomics England rare disease clinical team, upgrading this gene from Amber to Green. 2 cases with variants detected are reported, plus 4 other patients in which APOC2 p.Lys41Thr mutant protein was found by mass spectrometry.
Periodic fever syndromes v1.12 APOC2 Eleanor Williams Gene: apoc2 has been classified as Green List (High Evidence).
Periodic fever syndromes v1.11 APOC2 Eleanor Williams commented on gene: APOC2
Periodic fever syndromes v1.11 TTR Ellen McDonagh Tag treatable tag was added to gene: TTR.
Periodic fever syndromes v1.11 TTR Ellen McDonagh reviewed gene: TTR: Rating: ; Mode of pathogenicity: None; Publications: 30878017, 31131842, 31118583, 31111153, 30120737; Phenotypes: Amyloidosis, hereditary, transthyretin-related 105210; Mode of inheritance: None
Periodic fever syndromes v1.11 TTR Ellen McDonagh Publications for gene: TTR were set to 20301373; 11385707
Periodic fever syndromes OTULIN Rebecca Foulger classified OTULIN as green
Periodic fever syndromes OTULIN Rebecca Foulger commented on OTULIN
Periodic fever syndromes OTULIN Rebecca Foulger edited their review of OTULIN
Periodic fever syndromes TNFAIP3 Rebecca Foulger classified TNFAIP3 as amber
Periodic fever syndromes TNFAIP3 Rebecca Foulger edited their review of TNFAIP3
Periodic fever syndromes TNFAIP3 Rebecca Foulger commented on TNFAIP3
Periodic fever syndromes OTULIN Rebecca Foulger commented on OTULIN
Periodic fever syndromes TNFAIP3 Owen Siggs added TNFAIP3 to panel
Periodic fever syndromes TNFAIP3 Owen Siggs reviewed TNFAIP3
Periodic fever syndromes OTULIN Owen Siggs added OTULIN to panel
Periodic fever syndromes OTULIN Owen Siggs reviewed OTULIN
Periodic fever syndromes APOC2 Sarah Leigh commented on APOC2
Periodic fever syndromes Rebecca Foulger promoted panel to version 1
Periodic fever syndromes APP Alice Gardham marked APP as ready
Periodic fever syndromes APOC3 Alice Gardham classified APOC3 as amber
Periodic fever syndromes APOC3 Alice Gardham added APOC3 to panel
Periodic fever syndromes APOC3 Alice Gardham reviewed APOC3
Periodic fever syndromes APOC2 Alice Gardham classified APOC2 as amber
Periodic fever syndromes APOC2 Alice Gardham added APOC2 to panel
Periodic fever syndromes APOC2 Alice Gardham reviewed APOC2
Periodic fever syndromes OSMR Alice Gardham marked OSMR as ready
Periodic fever syndromes TRNT1 Alice Gardham marked TRNT1 as ready
Periodic fever syndromes TRNT1 Alice Gardham commented on TRNT1
Periodic fever syndromes APOA1 Alice Gardham marked APOA1 as ready
Periodic fever syndromes CST3 Alice Gardham marked CST3 as ready
Periodic fever syndromes B2M Alice Gardham marked B2M as ready
Periodic fever syndromes GSN Alice Gardham classified GSN as green
Periodic fever syndromes APOA2 Alice Gardham classified APOA2 as green
Periodic fever syndromes FGA Alice Gardham classified FGA as green
Periodic fever syndromes LYZ Alice Gardham classified LYZ as green
Periodic fever syndromes MEFV Alice Gardham commented on MEFV
Periodic fever syndromes ELANE Alice Gardham marked ELANE as ready
Periodic fever syndromes ELANE Alice Gardham classified ELANE as green
Periodic fever syndromes ELANE Alice Gardham commented on ELANE
Periodic fever syndromes PSMB8 Alice Gardham marked PSMB8 as ready
Periodic fever syndromes PSMB8 Alice Gardham classified PSMB8 as green
Periodic fever syndromes PSMB8 Alice Gardham reviewed PSMB8
Periodic fever syndromes IL36RN Alice Gardham classified IL36RN as green
Periodic fever syndromes LPIN2 Alice Gardham marked LPIN2 as ready
Periodic fever syndromes LPIN2 Alice Gardham classified LPIN2 as green
Periodic fever syndromes NOD2 Alice Gardham marked NOD2 as ready
Periodic fever syndromes NOD2 Alice Gardham classified NOD2 as green
Periodic fever syndromes NOD2 Alice Gardham reviewed NOD2
Periodic fever syndromes PSTPIP1 Alice Gardham marked PSTPIP1 as ready
Periodic fever syndromes PSTPIP1 Alice Gardham classified PSTPIP1 as green
Periodic fever syndromes IL1RN Alice Gardham classified IL1RN as green
Periodic fever syndromes TNFRSF1A Alice Gardham classified TNFRSF1A as green
Periodic fever syndromes TNFRSF1A Alice Gardham commented on TNFRSF1A
Periodic fever syndromes B2M Alice Gardham added B2M to panel
Periodic fever syndromes B2M Alice Gardham reviewed B2M
Periodic fever syndromes APP Alice Gardham added APP to panel
Periodic fever syndromes APP Alice Gardham reviewed APP
Periodic fever syndromes CST3 Alice Gardham added CST3 to panel
Periodic fever syndromes CST3 Alice Gardham reviewed CST3
Periodic fever syndromes APOA2 Alice Gardham marked APOA2 as ready
Periodic fever syndromes APOA2 Alice Gardham classified APOA2 as green
Periodic fever syndromes APOA2 Alice Gardham added APOA2 to panel
Periodic fever syndromes APOA2 Alice Gardham reviewed APOA2
Periodic fever syndromes OSMR Alice Gardham classified OSMR as green
Periodic fever syndromes OSMR Alice Gardham reviewed OSMR
Periodic fever syndromes NLRC4 Alice Gardham marked NLRC4 as ready
Periodic fever syndromes NLRC4 Alice Gardham reviewed NLRC4
Periodic fever syndromes IL36RN Alice Gardham marked IL36RN as ready
Periodic fever syndromes IL36RN Alice Gardham commented on IL36RN
Periodic fever syndromes IL31RA Alice Gardham marked IL31RA as ready
Periodic fever syndromes IL31RA Alice Gardham reviewed IL31RA
Periodic fever syndromes IL1RN Alice Gardham marked IL1RN as ready
Periodic fever syndromes IL1RN Alice Gardham commented on IL1RN
Periodic fever syndromes HTR1A Alice Gardham marked HTR1A as ready
Periodic fever syndromes HTR1A Alice Gardham commented on HTR1A
Periodic fever syndromes PSTPIP1 Alice Gardham commented on PSTPIP1
Periodic fever syndromes PSTPIP1 Alice Gardham classified PSTPIP1 as red
Periodic fever syndromes LYZ Alice Gardham marked LYZ as ready
Periodic fever syndromes LYZ Alice Gardham classified LYZ as green
Periodic fever syndromes LYZ Alice Gardham reviewed LYZ
Periodic fever syndromes LPIN2 Alice Gardham marked LPIN2 as ready
Periodic fever syndromes LPIN2 Alice Gardham classified LPIN2 as red
Periodic fever syndromes LPIN2 Alice Gardham commented on LPIN2
Periodic fever syndromes GSN Alice Gardham marked GSN as ready
Periodic fever syndromes GSN Alice Gardham classified GSN as green
Periodic fever syndromes GSN Alice Gardham reviewed GSN
Periodic fever syndromes APOA1 Alice Gardham classified APOA1 as green
Periodic fever syndromes APOA1 Alice Gardham reviewed APOA1
Periodic fever syndromes FGA Alice Gardham marked FGA as ready
Periodic fever syndromes FGA Alice Gardham classified FGA as green
Periodic fever syndromes FGA Alice Gardham reviewed FGA
Periodic fever syndromes TTR Alice Gardham marked TTR as ready
Periodic fever syndromes TTR Alice Gardham reviewed TTR
Periodic fever syndromes TNFRSF1A Alice Gardham marked TNFRSF1A as ready
Periodic fever syndromes NLRP3 Alice Gardham marked NLRP3 as ready
Periodic fever syndromes NLRP12 Alice Gardham marked NLRP12 as ready
Periodic fever syndromes NLRP12 Alice Gardham marked NLRP12 as ready
Periodic fever syndromes MVK Alice Gardham marked MVK as ready
Periodic fever syndromes MEFV Alice Gardham marked MEFV as ready
Periodic fever syndromes PSTPIP1 Rebecca Foulger classified PSTPIP1 as amber
Periodic fever syndromes PSTPIP1 Rebecca Foulger edited their review of PSTPIP1
Periodic fever syndromes PSTPIP1 Rebecca Foulger commented on PSTPIP1
Periodic fever syndromes ELANE Rebecca Foulger classified ELANE as amber
Periodic fever syndromes ELANE Rebecca Foulger commented on ELANE
Periodic fever syndromes ELANE Rebecca Foulger edited their review of ELANE
Periodic fever syndromes ELANE Rebecca Foulger commented on ELANE
Periodic fever syndromes LPIN2 Rebecca Foulger classified LPIN2 as amber
Periodic fever syndromes LPIN2 Rebecca Foulger commented on LPIN2
Periodic fever syndromes TTR Rebecca Foulger commented on TTR
Periodic fever syndromes NLRP12 Rebecca Foulger classified NLRP12 as green
Periodic fever syndromes NLRP12 Rebecca Foulger commented on NLRP12
Periodic fever syndromes NLRP12 Rebecca Foulger commented on NLRP12
Periodic fever syndromes NLRP3 Rebecca Foulger classified NLRP3 as green
Periodic fever syndromes NLRP3 Rebecca Foulger commented on NLRP3
Periodic fever syndromes MVK Rebecca Foulger classified MVK as green
Periodic fever syndromes MVK Rebecca Foulger edited their review of MVK
Periodic fever syndromes MVK Rebecca Foulger commented on MVK
Periodic fever syndromes MEFV Rebecca Foulger classified MEFV as green
Periodic fever syndromes MEFV Rebecca Foulger edited their review of MEFV
Periodic fever syndromes MEFV Rebecca Foulger commented on MEFV
Periodic fever syndromes TNFRSF1A Rebecca Foulger classified TNFRSF1A as green
Periodic fever syndromes TNFRSF1A Rebecca Foulger commented on TNFRSF1A
Periodic fever syndromes NLRP3 Tracy Briggs reviewed NLRP3
Periodic fever syndromes TNFRSF1A Tracy Briggs reviewed TNFRSF1A
Periodic fever syndromes MVK Tracy Briggs reviewed MVK
Periodic fever syndromes MEFV Tracy Briggs reviewed MEFV