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Primary immunodeficiency or monogenic inflammatory bowel disease v2.517 PSTPIP1 Arina Puzriakova Phenotypes for gene: PSTPIP1 were changed from Pyogenic sterile arthritis, pyoderma gangrenosum, and acne 604416; Proline/serine/threonine phosphatase-interacting protein 1 deficiency (PSTPIP1); PAPA syndrome; Hyperzincaemia hypercalprotectinaemia; Destructive arthritis, inflammatory skin rash, myositis; Autoinflammatory Disorders to Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, OMIM:604416; Destructive arthritis, inflammatory skin rash, myositis; Hyperzincaemia hypercalprotectinaemia; Autoinflammatory Disorders
Primary immunodeficiency or monogenic inflammatory bowel disease v2.298 PSTPIP1 Eleanor Williams Classified gene: PSTPIP1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.298 PSTPIP1 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 v2.298 PSTPIP1 Eleanor Williams Gene: pstpip1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 PSTPIP1 Eleanor Williams Source Other was added to PSTPIP1.
Publications for gene PSTPIP1 were updated from 28251506; 28628471; 28960754; 29575118; 26025129 to 21532836; 9212761; 28628471; 28251506; 28960754; 22161697; 26025129; 29575118
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 PSTPIP1 Eleanor Williams reviewed gene: PSTPIP1: Rating: ; Mode of pathogenicity: ; Publications: 9212761, 22161697, 21532836; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PSTPIP1 Louise Daugherty commented on gene: PSTPIP1: 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 PSTPIP1 Louise Daugherty commented on gene: PSTPIP1: 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 PSTPIP1 Kimberly Gilmour reviewed gene: PSTPIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PSTPIP1 Tracy Briggs reviewed gene: PSTPIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 PSTPIP1 Louise Daugherty Source NHS GMS was added to PSTPIP1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 PSTPIP1 Louise Daugherty Source North West GLH was added to PSTPIP1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 PSTPIP1 Louise Daugherty Source London North GLH was added to PSTPIP1.
Primary immunodeficiency or monogenic inflammatory bowel disease PSTPIP1 Louise Daugherty edited their review of gene: PSTPIP1
Primary immunodeficiency or monogenic inflammatory bowel disease PSTPIP1 Louise Daugherty marked gene: PSTPIP1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease PSTPIP1 Sophie Hambleton reviewed gene: PSTPIP1
Primary immunodeficiency or monogenic inflammatory bowel disease PSTPIP1 Sarah Leigh classified PSTPIP1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease PSTPIP1 Louise Daugherty commented on PSTPIP1
Primary immunodeficiency or monogenic inflammatory bowel disease PSTPIP1 Louise Daugherty commented on PSTPIP1
Primary immunodeficiency or monogenic inflammatory bowel disease PSTPIP1 Louise Daugherty commented on PSTPIP1
Primary immunodeficiency or monogenic inflammatory bowel disease PSTPIP1 Louise Daugherty reviewed PSTPIP1
Primary immunodeficiency or monogenic inflammatory bowel disease PSTPIP1 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease PSTPIP1 Louise Daugherty Added gene to panel