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Primary immunodeficiency or monogenic inflammatory bowel disease v2.294 POLA1 Eleanor Williams Classified gene: POLA1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.294 POLA1 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 v2.294 POLA1 Eleanor Williams Gene: pola1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 POLA1 Eleanor Williams Source Other was added to POLA1.
Publications for gene POLA1 were updated from 27019227 to 27019227; 6794369; 15804299
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 POLA1 Eleanor Williams edited their review of gene: POLA1: Added comment: The following PubMed IDs were added to entity POLA1: 15804299;6794369. These publications have been associated with OMIM phenotype MIM#301220, 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: 15804299, 6794369
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 POLA1 Louise Daugherty commented on gene: POLA1: 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 POLA1 Louise Daugherty reviewed gene: POLA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 POLA1 Kimberly Gilmour reviewed gene: POLA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 POLA1 Tracy Briggs reviewed gene: POLA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 POLA1 Louise Daugherty Source NHS GMS was added to POLA1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 POLA1 Louise Daugherty Source North West GLH was added to POLA1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 POLA1 Louise Daugherty Source London North GLH was added to POLA1.
Primary immunodeficiency or monogenic inflammatory bowel disease POLA1 Louise Daugherty marked gene: POLA1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease POLA1 Eleanor Williams classified POLA1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease POLA1 Eleanor Williams commented on gene: POLA1
Primary immunodeficiency or monogenic inflammatory bowel disease POLA1 Louise Daugherty reviewed gene: POLA1
Primary immunodeficiency or monogenic inflammatory bowel disease POLA1 Sophie Hambleton reviewed gene: POLA1
Primary immunodeficiency or monogenic inflammatory bowel disease POLA1 Louise Daugherty Added gene to panel