Activity

Filter

Cancel
Date Panel Item Activity
153 actions
Periodic fever syndromes v1.33 CST3 Arina Puzriakova Phenotypes for gene: CST3 were changed from Cerebral amyloid angiopathy 105150 to Cerebral amyloid angiopathy, OMIM:105150
Periodic fever syndromes v1.32 APP Arina Puzriakova Phenotypes for gene: APP were changed from Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants 605714 to Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, OMIM:605714
Periodic fever syndromes v1.31 FGA Arina Puzriakova Phenotypes for gene: FGA were changed from Amyloidosis, familial visceral 105200 to Amyloidosis, familial visceral, OMIM:105200
Periodic fever syndromes v1.30 GSN Arina Puzriakova Phenotypes for gene: GSN were changed from Amyloidosis; Amyloidosis, Finnish type, 105120 to Amyloidosis, Finnish type, OMIM:105120
Periodic fever syndromes v1.29 TNFAIP3 Arina Puzriakova Phenotypes for gene: TNFAIP3 were changed from Autoinflammatory syndrome, familial, Behcet-like; (AISBL) (616744) to Autoinflammatory syndrome, familial, Behcet-like, OMIM:616744
Periodic fever syndromes v1.28 TNFRSF1A Arina Puzriakova Phenotypes for gene: TNFRSF1A were changed from Hereditary Periodic Fever Syndromes; Periodic fever, familial, 142680 to Periodic fever, familial, OMIM:142680
Periodic fever syndromes v1.27 PSTPIP1 Arina Puzriakova Phenotypes for gene: PSTPIP1 were changed from Hereditary Periodic Fever Syndromes; PAPA syndrome; Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, 604416 to Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, OMIM:604416
Periodic fever syndromes v1.26 PSMB8 Arina Puzriakova Phenotypes for gene: PSMB8 were changed from Autoinflammation, lipodystrophy, and dermatosis syndrome 256040 (Joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome) and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE syndrome)) to Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040; Autoinflammation, lipodystrophy, and dermatosis syndrome
Periodic fever syndromes v1.25 OTULIN Arina Puzriakova Phenotypes for gene: OTULIN were changed from Autoinflammation, panniculitis, and dermatosis syndrome (AIPDS) (617099); Otulin-related autoinflammatry syndrome (ORAS) to Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099
Periodic fever syndromes v1.24 NOD2 Arina Puzriakova Phenotypes for gene: NOD2 were changed from Blau syndrome, 186580 to Blau syndrome, OMIM:186580
Periodic fever syndromes v1.23 NLRP3 Arina Puzriakova Phenotypes for gene: NLRP3 were changed from Hereditary Periodic Fever Syndromes; CINCA syndrome (NOMID), 607115; Familial cold-induced inflammatory syndrome 1 (FCAS), 120100; Muckle-Wells syndrome (MWS), 191900 to CINCA syndrome, OMIM:607115; Deafness, autosomal dominant 34, with or without inflammation, OMIM:617772; Familial cold inflammatory syndrome 1, OMIM:120100; Muckle-Wells syndrome, OMIM:191900
Periodic fever syndromes v1.22 NLRP12 Arina Puzriakova Phenotypes for gene: NLRP12 were changed from Familial cold autoinflammatory syndrome 2; 611762 to Familial cold autoinflammatory syndrome 2, OMIM:611762
Periodic fever syndromes v1.21 NLRC4 Arina Puzriakova Phenotypes for gene: NLRC4 were changed from ?Familial cold autoinflammatory syndrome 4 616115; Autoinflammation with infantile enterocolitis 616050 to Autoinflammation with infantile enterocolitis, OMIM:616050; ?Familial cold autoinflammatory syndrome 4, OMIM:616115
Periodic fever syndromes v1.20 MVK Arina Puzriakova Phenotypes for gene: MVK were changed from Hereditary Periodic Fever Syndromes; Mevalonate kinase deficiency; Hyper-IgD syndrome, 260920; Mevalonic aciduria, 610377 to Hyper-IgD syndrome, OMIM:260920; Mevalonic aciduria, OMIM:610377
Periodic fever syndromes v1.19 MEFV Arina Puzriakova Phenotypes for gene: MEFV were changed from Hereditary Periodic Fever Syndromes; Familial Mediterranean Fever; Familial Mediterranean fever, AD, 134610; Familial Mediterranean fever, AR, 249100 to Familial Mediterranean fever, AD, OMIM:134610; Familial Mediterranean fever, AR, OMIM:249100; Neutrophilic dermatosis, acute febrile, OMIM:608068
Periodic fever syndromes v1.18 LPIN2 Arina Puzriakova Phenotypes for gene: LPIN2 were changed from Hereditary Periodic Fever Syndromes; Majeed syndrome, 609628 to Majeed syndrome, OMIM:609628
Periodic fever syndromes v1.17 IL36RN Arina Puzriakova Phenotypes for gene: IL36RN were changed from Psoriasis 14, pustular, 614204; DITRA; recurrent flares of pustular rash with fever to Psoriasis 14, pustular, OMIM:614204; Recurrent flares of pustular rash with fever
Periodic fever syndromes v1.16 IL1RN Arina Puzriakova Phenotypes for gene: IL1RN were changed from Interleukin 1 receptor antagonist deficiency, 612852; OMPP; DIRA syndrome; recurrent fever to Interleukin 1 receptor antagonist deficiency, OMIM:612852
Periodic fever syndromes v1.15 APOA1 Sarah Leigh Added comment: Comment on mode of inheritance: Both biallelic and monoallelic variants have been associated with ApoA-I and apoC-III deficiency, combined OMIM:618463;
Hypoalphalipoproteinemia, primary, 2, with or without corneal clouding OMIM:618463;hypoalphalipoproteinemia, primary, 2 MONDO:0032766
Periodic fever syndromes v1.15 APOA1 Sarah Leigh Mode of inheritance for gene: APOA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Periodic fever syndromes v1.14 APOA1 Sarah Leigh reviewed gene: APOA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Periodic fever syndromes v1.14 APOA1 Sarah Leigh Publications for gene: APOA1 were set to PMID: 26515634; 12050338; 27240838
Periodic fever syndromes v1.13 APOC2 Arina Puzriakova Phenotypes for gene: APOC2 were changed from Amyloidosis; Hyperlipoproteinemia, type Ib 207750 to Amyloidosis
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 commented on ELANE
Periodic fever syndromes ELANE Alice Gardham classified ELANE as green
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