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Primary immunodeficiency or monogenic inflammatory bowel disease v4.57 | MCTS1 |
Boaz Palterer gene: MCTS1 was added gene: MCTS1 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: MCTS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MCTS1 were set to MSMD; non tubercular mycobacteria infection; BCGtis; BCG infection Penetrance for gene: MCTS1 were set to Complete Review for gene: MCTS1 was set to GREEN Added comment: Human MCTS1-dependent translation of JAK2 is essential for IFN-γ immunity to mycobacteria https://doi.org/10.1016/j.cell.2023.09.024 Bohlen et al. identified 6 male subjects from 5 kindreds with LOF MCTS-1 variants with MSMD. Extensive ex-vivo functional validation and mouse model. Sources: Literature |
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Primary immunodeficiency or monogenic inflammatory bowel disease v2.221 | AK2 | Eleanor Williams Classified gene: AK2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.221 | AK2 | 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 v2.221 | AK2 | Eleanor Williams Gene: ak2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 | AK2 |
Eleanor Williams Source Other was added to AK2. Publications for gene AK2 were updated from 19043416; 19043417 to 19043416; 19043417 Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 | AK2 | Eleanor Williams reviewed gene: AK2: Rating: ; Mode of pathogenicity: ; Publications: 19043417; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 | AK2 | Louise Daugherty commented on gene: AK2: 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 | AK2 | Louise Daugherty commented on gene: AK2: 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 | AK2 | Kimberly Gilmour commented on gene: AK2: agree with green gene | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 | AK2 | Tracy Briggs reviewed gene: AK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 | AK2 | Louise Daugherty Source NHS GMS was added to AK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 | AK2 | Louise Daugherty Source North West GLH was added to AK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 | AK2 | Louise Daugherty Source London North GLH was added to AK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | AK2 | Louise Daugherty commented on gene: AK2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | AK2 | Louise Daugherty marked gene: AK2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | AK2 | Louise Daugherty commented on AK2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | AK2 | Louise Daugherty commented on AK2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | AK2 | Louise Daugherty reviewed AK2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | AK2 | Louise Daugherty Added gene to panel |