Activity

Filter

Cancel
Date Panel Item Activity
23 actions
Primary immunodeficiency or monogenic inflammatory bowel disease v2.468 B2M Eleanor Williams Added comment: Comment on mode of inheritance: Biallelic mode of inheritance is correct for Immunodeficiency 43. OMIM also has an entry for ?Amyloidosis, familial visceral, OMIM:105200 - Autosomal dominant but this phenotype is not relevant to this panel.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.468 B2M Eleanor Williams Mode of inheritance for gene: B2M was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.223 B2M Eleanor Williams Classified gene: B2M as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.223 B2M 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 v2.223 B2M Eleanor Williams Gene: b2m has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 B2M Eleanor Williams Source Other was added to B2M.
Publications for gene B2M were updated from 4186801; 25702838 to 25702838; 4186801
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 B2M Eleanor Williams reviewed gene: B2M: Rating: ; Mode of pathogenicity: ; Publications: 4186801, 25702838; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 B2M Louise Daugherty commented on gene: B2M: 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 B2M Louise Daugherty commented on gene: B2M: 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 B2M Kimberly Gilmour reviewed gene: B2M: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 B2M Tracy Briggs reviewed gene: B2M: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 B2M Louise Daugherty Source NHS GMS was added to B2M.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 B2M Louise Daugherty Source North West GLH was added to B2M.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 B2M Louise Daugherty Source London North GLH was added to B2M.
Primary immunodeficiency or monogenic inflammatory bowel disease B2M Louise Daugherty edited their review of gene: B2M
Primary immunodeficiency or monogenic inflammatory bowel disease B2M Louise Daugherty marked gene: B2M as ready
Primary immunodeficiency or monogenic inflammatory bowel disease B2M Louise Daugherty classified B2M as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease B2M Sophie Hambleton reviewed gene: B2M
Primary immunodeficiency or monogenic inflammatory bowel disease B2M Louise Daugherty edited their review of B2M
Primary immunodeficiency or monogenic inflammatory bowel disease B2M Louise Daugherty commented on B2M
Primary immunodeficiency or monogenic inflammatory bowel disease B2M Louise Daugherty reviewed B2M
Primary immunodeficiency or monogenic inflammatory bowel disease B2M Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease B2M Louise Daugherty Added gene to panel