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Primary immunodeficiency or monogenic inflammatory bowel disease v2.518 RBCK1 Arina Puzriakova Phenotypes for gene: RBCK1 were changed from Polyglucosan body myopathy, early-onset, with or without immunodeficiency 615895; Other autoinflammatory diseases with known genetic defect; HOIL1 deficiency; Bacterial infections, autoinflammation, amylopectinosis; Combined immunodeficiencies with associated or syndromic features to Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895; Bacterial infections, autoinflammation, amylopectinosis; Combined immunodeficiencies with associated or syndromic features
Primary immunodeficiency or monogenic inflammatory bowel disease v2.304 RBCK1 Eleanor Williams Classified gene: RBCK1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.304 RBCK1 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 v2.304 RBCK1 Eleanor Williams Gene: rbck1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 RBCK1 Eleanor Williams Source Other was added to RBCK1.
Publications for gene RBCK1 were updated from 23104095; 29260357 to 23798481; 610924; 29260357; 23104095
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 RBCK1 Eleanor Williams reviewed gene: RBCK1: Rating: ; Mode of pathogenicity: ; Publications: 23798481, 610924; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RBCK1 Louise Daugherty commented on gene: RBCK1: 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 RBCK1 Louise Daugherty commented on gene: RBCK1: 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 RBCK1 Kimberly Gilmour reviewed gene: RBCK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RBCK1 Tracy Briggs reviewed gene: RBCK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 RBCK1 Louise Daugherty Source NHS GMS was added to RBCK1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 RBCK1 Louise Daugherty Source North West GLH was added to RBCK1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 RBCK1 Louise Daugherty Source London North GLH was added to RBCK1.
Primary immunodeficiency or monogenic inflammatory bowel disease RBCK1 Louise Daugherty edited their review of gene: RBCK1
Primary immunodeficiency or monogenic inflammatory bowel disease RBCK1 Louise Daugherty marked gene: RBCK1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease RBCK1 Louise Daugherty classified RBCK1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease RBCK1 Louise Daugherty commented on gene: RBCK1
Primary immunodeficiency or monogenic inflammatory bowel disease RBCK1 Louise Daugherty commented on gene: RBCK1
Primary immunodeficiency or monogenic inflammatory bowel disease RBCK1 Sophie Hambleton reviewed gene: RBCK1
Primary immunodeficiency or monogenic inflammatory bowel disease RBCK1 Sarah Leigh classified RBCK1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease RBCK1 Louise Daugherty commented on RBCK1
Primary immunodeficiency or monogenic inflammatory bowel disease RBCK1 Louise Daugherty commented on RBCK1
Primary immunodeficiency or monogenic inflammatory bowel disease RBCK1 Louise Daugherty commented on RBCK1
Primary immunodeficiency or monogenic inflammatory bowel disease RBCK1 Louise Daugherty reviewed RBCK1
Primary immunodeficiency or monogenic inflammatory bowel disease RBCK1 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease RBCK1 Louise Daugherty Added gene to panel