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Primary immunodeficiency or monogenic inflammatory bowel disease v2.477 SLC29A3 Arina Puzriakova Phenotypes for gene: SLC29A3 were changed from Histiocytosis-lymphadenopathy plus syndrome 602782; Other autoinflammatory diseases with known genetic defect; Hyperpigmentation hypertrichosis, histiocytosis-lymphadenopathy plus syndrome; Autoinflammatory Disorders to Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782; Hyperpigmentation hypertrichosis, histiocytosis-lymphadenopathy plus syndrome; Autoinflammatory Disorders
Primary immunodeficiency or monogenic inflammatory bowel disease v2.310 SLC29A3 Eleanor Williams Classified gene: SLC29A3 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.310 SLC29A3 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 v2.310 SLC29A3 Eleanor Williams Gene: slc29a3 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 SLC29A3 Eleanor Williams Source Other was added to SLC29A3.
Publications for gene SLC29A3 were updated from 16650224; 18940313; 20619369; 17461801; 19336477; 16155931; 20140240; 16118898; 21178579; 19175903; 9545394; 21888995; 23530176; 18947330; 22238637; 22653152; 22875837 to 17461801; 19336477; 23530176; 18940313; 22238637; 16118898; 22875837; 19175903; 21888995; 20140240; 16155931; 21178579; 9545394; 16650224; 22653152; 18947330; 20619369
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 SLC29A3 Eleanor Williams edited their review of gene: SLC29A3: Added comment: The following PubMed IDs were added to entity SLC29A3: 20619369;20140240. These publications have been associated with OMIM phenotype MIM#602782, which is listed for this entity, by the autoinflammation subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.; Changed publications: 20619369, 20140240
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SLC29A3 Louise Daugherty commented on gene: SLC29A3: 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 SLC29A3 Louise Daugherty commented on gene: SLC29A3: 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 SLC29A3 Kimberly Gilmour reviewed gene: SLC29A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SLC29A3 Tracy Briggs reviewed gene: SLC29A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 SLC29A3 Louise Daugherty Source NHS GMS was added to SLC29A3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 SLC29A3 Louise Daugherty Source North West GLH was added to SLC29A3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 SLC29A3 Louise Daugherty Source London North GLH was added to SLC29A3.
Primary immunodeficiency or monogenic inflammatory bowel disease SLC29A3 Louise Daugherty edited their review of gene: SLC29A3
Primary immunodeficiency or monogenic inflammatory bowel disease SLC29A3 Louise Daugherty marked gene: SLC29A3 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease SLC29A3 Sophie Hambleton reviewed gene: SLC29A3
Primary immunodeficiency or monogenic inflammatory bowel disease SLC29A3 Eleanor Williams classified SLC29A3 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease SLC29A3 Eleanor Williams commented on SLC29A3
Primary immunodeficiency or monogenic inflammatory bowel disease SLC29A3 Eleanor Williams edited their review of SLC29A3
Primary immunodeficiency or monogenic inflammatory bowel disease SLC29A3 Louise Daugherty classified SLC29A3 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease SLC29A3 Louise Daugherty commented on SLC29A3
Primary immunodeficiency or monogenic inflammatory bowel disease SLC29A3 Louise Daugherty commented on SLC29A3
Primary immunodeficiency or monogenic inflammatory bowel disease SLC29A3 Louise Daugherty commented on SLC29A3
Primary immunodeficiency or monogenic inflammatory bowel disease SLC29A3 Louise Daugherty reviewed SLC29A3
Primary immunodeficiency or monogenic inflammatory bowel disease SLC29A3 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease SLC29A3 Louise Daugherty Added gene to panel