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Primary immunodeficiency or monogenic inflammatory bowel disease v4.123 IL21R Arina Puzriakova Phenotypes for gene: IL21R were changed from Immunodeficiency 56, 615207; Immunodeficiency, primary, autosomal recessive, IL21R-related; Atypical Severe Combined Immunodeficiency (Atypical SCID); Combined immunodeficiency; Omenn syndrome; Severe combined immunodeficiency (SCID); IL-21R deficiency; Recurrent infections, Pneumocystis jiroveci, Cryptosporidium infections and liver disease; Immunodeficiencies affecting cellular and humoral immunity to Immunodeficiency 56, OMIM:615207
Primary immunodeficiency or monogenic inflammatory bowel disease v2.533 IL21 Arina Puzriakova commented on gene: IL21
Primary immunodeficiency or monogenic inflammatory bowel disease v2.533 IL21 Arina Puzriakova Phenotypes for gene: IL21 were changed from Severe early onset colitis, recurrent sinopulmonary infections; Immunodeficiency, common variable, 11, 615767; Immunodeficiencies affecting cellular and humoral immunity to Immunodeficiency, common variable, 11 , OMIM:615767; Severe early onset colitis, recurrent sinopulmonary infections; Immunodeficiencies affecting cellular and humoral immunity
Primary immunodeficiency or monogenic inflammatory bowel disease v2.261 IL21R Eleanor Williams Classified gene: IL21R as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.261 IL21R Eleanor Williams Gene: il21r has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.212 IL21 Eleanor Williams Classified gene: IL21 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.212 IL21 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Amber. This gene was rated as Amber 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 v2.212 IL21 Eleanor Williams Gene: il21 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 IL21 Eleanor Williams Source Other was added to IL21.
Publications for gene IL21 were updated from 32048120; 24746753; 32086639 to 32086639; 24746753; 32048120
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 IL21R Eleanor Williams Source Other was added to IL21R.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 IL21R Eleanor Williams reviewed gene: IL21R: Rating: ; Mode of pathogenicity: ; Publications: 23440042, 12700598; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 IL21 Eleanor Williams reviewed gene: IL21: Rating: ; Mode of pathogenicity: ; Publications: 24746753; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 IL21 Louise Daugherty Source IUIS Classification December 2019 was added to IL21.
Added phenotypes Severe early onset colitis, recurrent sinopulmonary infections; Immunodeficiencies affecting cellular and humoral immunity for gene: IL21
Publications for gene IL21 were updated from 24746753 to 32048120; 24746753; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL21R Louise Daugherty commented on gene: IL21R: 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 IL21R Louise Daugherty commented on gene: IL21R: 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 IL21R Kimberly Gilmour reviewed gene: IL21R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL21R Tracy Briggs reviewed gene: IL21R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IL21R Louise Daugherty Source NHS GMS was added to IL21R.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IL21R Louise Daugherty Source North West GLH was added to IL21R.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IL21R Louise Daugherty Source London North GLH was added to IL21R.
Primary immunodeficiency or monogenic inflammatory bowel disease IL21R Louise Daugherty edited their review of gene: IL21R
Primary immunodeficiency or monogenic inflammatory bowel disease IL21 Louise Daugherty commented on gene: IL21
Primary immunodeficiency or monogenic inflammatory bowel disease IL21R Louise Daugherty marked gene: IL21R as ready
Primary immunodeficiency or monogenic inflammatory bowel disease IL21R Louise Daugherty classified IL21R as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease IL21 Louise Daugherty marked gene: IL21 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease IL21 Louise Daugherty commented on gene: IL21
Primary immunodeficiency or monogenic inflammatory bowel disease IL21 Louise Daugherty commented on gene: IL21
Primary immunodeficiency or monogenic inflammatory bowel disease IL21R Sophie Hambleton reviewed gene: IL21R
Primary immunodeficiency or monogenic inflammatory bowel disease IL21 Sophie Hambleton reviewed gene: IL21
Primary immunodeficiency or monogenic inflammatory bowel disease IL21R Louise Daugherty commented on IL21R
Primary immunodeficiency or monogenic inflammatory bowel disease IL21 Louise Daugherty commented on IL21
Primary immunodeficiency or monogenic inflammatory bowel disease IL21R Louise Daugherty commented on IL21R
Primary immunodeficiency or monogenic inflammatory bowel disease IL21R Louise Daugherty commented on IL21R
Primary immunodeficiency or monogenic inflammatory bowel disease IL21R Louise Daugherty reviewed IL21R
Primary immunodeficiency or monogenic inflammatory bowel disease IL21 Louise Daugherty reviewed IL21
Primary immunodeficiency or monogenic inflammatory bowel disease IL21 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease IL21 Louise Daugherty Added gene to panel