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Primary immunodeficiency or monogenic inflammatory bowel disease v2.509 MVK Arina Puzriakova Phenotypes for gene: MVK were changed from Hyper-IgD syndrome 260920; Mevalonic aciduria 610377; Hyper IgD syndrome (MVK); Periodic fever and leukocytosis with high IgD levels; Autoinflammatory Disorders to Hyper-IgD syndrome, OMIM:260920; Mevalonic aciduria, OMIM:610377; Periodic fever and leukocytosis with high IgD levels; Autoinflammatory Disorders
Primary immunodeficiency or monogenic inflammatory bowel disease v2.281 MVK Eleanor Williams Classified gene: MVK as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.281 MVK 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 v2.281 MVK Eleanor Williams Gene: mvk has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 MVK Eleanor Williams Source Other was added to MVK.
Publications for gene MVK were updated from 10369261; 16435210 to 19011501; 16435210; 22038276; 21708801; 10369261
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 MVK Eleanor Williams reviewed gene: MVK: Rating: ; Mode of pathogenicity: ; Publications: 22038276, 21708801, 19011501; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MVK Louise Daugherty commented on gene: MVK: 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 MVK Louise Daugherty commented on gene: MVK: 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 MVK Kimberly Gilmour reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MVK Tracy Briggs reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 MVK Louise Daugherty Source NHS GMS was added to MVK.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 MVK Louise Daugherty Source North West GLH was added to MVK.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 MVK Louise Daugherty Source London North GLH was added to MVK.
Primary immunodeficiency or monogenic inflammatory bowel disease MVK Louise Daugherty edited their review of gene: MVK
Primary immunodeficiency or monogenic inflammatory bowel disease MVK Louise Daugherty marked gene: MVK as ready
Primary immunodeficiency or monogenic inflammatory bowel disease MVK Sophie Hambleton reviewed gene: MVK
Primary immunodeficiency or monogenic inflammatory bowel disease MVK Sarah Leigh classified MVK as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease MVK Sarah Leigh classified MVK as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease MVK Louise Daugherty commented on MVK
Primary immunodeficiency or monogenic inflammatory bowel disease MVK Louise Daugherty commented on MVK
Primary immunodeficiency or monogenic inflammatory bowel disease MVK Louise Daugherty commented on MVK
Primary immunodeficiency or monogenic inflammatory bowel disease MVK Louise Daugherty reviewed MVK
Primary immunodeficiency or monogenic inflammatory bowel disease MVK Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease MVK Louise Daugherty Added gene to panel