Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Primary immunodeficiency or monogenic inflammatory bowel disease v2.519 | SH3BP2 | Arina Puzriakova Phenotypes for gene: SH3BP2 were changed from Other autoinflammatory diseases with known genetic defect; Bone degeneration in jaws; Cherubism 118400; Autoinflammatory Disorders to Cherubism, OMIM:118400; Autoinflammatory Disorders | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 | SH3BP2 |
Eleanor Williams Source Other was added to SH3BP2. Publications for gene SH3BP2 were updated from 29669173; 22640988; 32048120; 28914985; 11381256; 32086639; 25705883; 25470448; 25220465 to 25220465; 11381256; 25705883; 25470448; 32048120; 32086639; 29669173; 11113824; 22640988; 28914985; 16053841 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 | SH3BP2 | Eleanor Williams reviewed gene: SH3BP2: Rating: ; Mode of pathogenicity: ; Publications: 11113824, 16053841; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.93 | SH3BP2 | Ivone Leong Publications for gene: SH3BP2 were set to 29669173; 22640988; 32048120; 28914985; 11381256; 32086639 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 | SH3BP2 | Zornitza Stark reviewed gene: SH3BP2: Rating: RED; Mode of pathogenicity: None; Publications: 26152156, 25705883, 25470448, 25220465; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | SH3BP2 |
Louise Daugherty Source IUIS Classification December 2019 was added to SH3BP2. Added phenotypes Bone degeneration in jaws; Autoinflammatory Disorders for gene: SH3BP2 Publications for gene SH3BP2 were updated from 22640988; 28914985; 11381256; 29669173 to 29669173; 22640988; 32048120; 28914985; 11381256; 32086639 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 | SH3BP2 | Louise Daugherty commented on gene: SH3BP2: Cherubism - green association, but is there an immunological phenotype? | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 | SH3BP2 |
Louise Daugherty commented on gene: SH3BP2: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is only enough evidence to rate this gene Red Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is only enough evidence to rate this gene Red |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 | SH3BP2 | Louise Daugherty commented on gene: SH3BP2: Genes with discrepant ratings (PID 100K vs sumbmitted LNGLH submitted Immunology lists)--agreed rating in webex call 28 March 2019 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.120 | SH3BP2 | Louise Daugherty commented on gene: SH3BP2: OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): SH3BP2 .PanelApp HGNC gene symbol check: SH3BP2 . IUIS Disease: Cherubism . IUIS Inheritance: AD .T cells: Variable, .B cells: N/A, .IUIS Other affected cells: Stroma cells, bone cells. IUIS Associated features: Bone degeneration in jaws. IUIS Major category: Autoinflammatory Disorders. IUIS Subcategory: Non-Inflammasome Related Conditions | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.120 | SH3BP2 | Louise Daugherty commented on gene: SH3BP2: Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: SH3BP2 GRID_Gene_Symbol: SH3BP2 GRID_Transcript_ENS_Community submitted: ENST00000503393 GRID_Transcript_RefSeq: NM_001122681.1 GRID_Transcript_ENS_used_on_Production: ENST00000503393 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.120 | SH3BP2 | Louise Daugherty commented on gene: SH3BP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.93 | SH3BP2 |
Louise Daugherty Source GRID V2.0 was added to SH3BP2. Source Expert Review Red was added to SH3BP2. Source Victorian Clinical Genetics Services was added to SH3BP2. Source ESID Registry 20171117 was added to SH3BP2. Source IUIS Classification February 2018 was added to SH3BP2. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.92 | SH3BP2 | Louise Daugherty Publications for gene: SH3BP2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.91 | SH3BP2 | Louise Daugherty Phenotypes for gene: SH3BP2 were changed from to Cherubism 118400; Other autoinflammatory diseases with known genetic defect; Bone degeneration in jaws; Autoinflammatory Disorders | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.90 | SH3BP2 | Louise Daugherty Mode of inheritance for gene: SH3BP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.67 | SH3BP2 | Louise Daugherty Source London North GLH was added to SH3BP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.66 | SH3BP2 | Louise Daugherty Source NHS GMS was added to SH3BP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.65 | SH3BP2 |
Louise Daugherty gene: SH3BP2 was added gene: SH3BP2 was added to Primary immunodeficiency. Sources: North West GLH Mode of inheritance for gene: SH3BP2 was set to |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 | PSMB9 | Louise Daugherty SH3BP2 was changed to PSMB9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 | SH3BP2 | Louise Daugherty Source North West GLH was added to SH3BP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | SH3BP2 | Louise Daugherty classified SH3BP2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | SH3BP2 | Louise Daugherty classified SH3BP2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | SH3BP2 | Louise Daugherty edited their review of gene: SH3BP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | SH3BP2 | Louise Daugherty marked gene: SH3BP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | SH3BP2 | Louise Daugherty commented on gene: SH3BP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | SH3BP2 | Louise Daugherty commented on gene: SH3BP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | SH3BP2 | Louise Daugherty commented on gene: SH3BP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | SH3BP2 | Sophie Hambleton reviewed gene: SH3BP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | SH3BP2 | Eleanor Williams classified SH3BP2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | SH3BP2 | Louise Daugherty commented on SH3BP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | SH3BP2 | Louise Daugherty classified SH3BP2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | SH3BP2 | Louise Daugherty commented on SH3BP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | SH3BP2 | Louise Daugherty commented on SH3BP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | SH3BP2 | Louise Daugherty reviewed SH3BP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | SH3BP2 | Louise Daugherty Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | SH3BP2 | Louise Daugherty Added gene to panel |