Activity

Filter

Cancel
Date Panel Item Activity
23 actions
Primary immunodeficiency or monogenic inflammatory bowel disease v2.507 LPIN2 Arina Puzriakova Phenotypes for gene: LPIN2 were changed from Majeed syndrome 609628; Other autoinflammatory diseases with known genetic defect; Chronic recurrent multifocal osteomyelitis, transfusion-dependent anemia, cutaneous inflammatory disorders; Autoinflammatory Disorders to Majeed syndrome, OMIM:609628; Chronic recurrent multifocal osteomyelitis, transfusion-dependent anemia, cutaneous inflammatory disorders; Autoinflammatory Disorders
Primary immunodeficiency or monogenic inflammatory bowel disease v2.272 LPIN2 Eleanor Williams Classified gene: LPIN2 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.272 LPIN2 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.272 LPIN2 Eleanor Williams Gene: lpin2 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 LPIN2 Eleanor Williams Source Other was added to LPIN2.
Publications for gene LPIN2 were updated from 29387759; 15994876; 17330256; 27860302 to 2809904; 27252506; 29387759; 10969284; 17330256; 15994876; 27860302
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 LPIN2 Eleanor Williams reviewed gene: LPIN2: Rating: ; Mode of pathogenicity: ; Publications: 27252506, 2809904, 10969284; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 LPIN2 Louise Daugherty commented on gene: LPIN2: 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 enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 LPIN2 Louise Daugherty commented on gene: LPIN2: 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 enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 LPIN2 Kimberly Gilmour reviewed gene: LPIN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 LPIN2 Tracy Briggs reviewed gene: LPIN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 LPIN2 Louise Daugherty Source NHS GMS was added to LPIN2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 LPIN2 Louise Daugherty Source North West GLH was added to LPIN2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 LPIN2 Louise Daugherty Source London North GLH was added to LPIN2.
Primary immunodeficiency or monogenic inflammatory bowel disease LPIN2 Louise Daugherty edited their review of gene: LPIN2
Primary immunodeficiency or monogenic inflammatory bowel disease LPIN2 Louise Daugherty marked gene: LPIN2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease LPIN2 Sophie Hambleton reviewed gene: LPIN2
Primary immunodeficiency or monogenic inflammatory bowel disease LPIN2 Sarah Leigh classified LPIN2 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease LPIN2 Louise Daugherty commented on LPIN2
Primary immunodeficiency or monogenic inflammatory bowel disease LPIN2 Louise Daugherty commented on LPIN2
Primary immunodeficiency or monogenic inflammatory bowel disease LPIN2 Louise Daugherty commented on LPIN2
Primary immunodeficiency or monogenic inflammatory bowel disease LPIN2 Louise Daugherty reviewed LPIN2
Primary immunodeficiency or monogenic inflammatory bowel disease LPIN2 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease LPIN2 Louise Daugherty Added gene to panel