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Primary immunodeficiency or monogenic inflammatory bowel disease v4.50 CD8A Hannah Knight changed review comment from: PMID: 26563160 reported a third patient with this disorder. From consanguineous Portuguese family, with same homozygous variant as previously reported. Not sure whether this is enough to push gene into green category (as same variant, and Portuguese vs Spanish Gypsy heritage); to: PMID: 26563160 reported a third patient with this disorder. From consanguineous Portuguese family, with same homozygous variant as previously reported. Not sure whether this is enough to push gene into green category (as same variant, and Portuguese vs Spanish Gypsy heritage)
PMID mentioned below, but not sure if taken into account as no reference to contents of paper
Primary immunodeficiency or monogenic inflammatory bowel disease v4.50 CD8A Hannah Knight reviewed gene: CD8A: Rating: AMBER; Mode of pathogenicity: None; Publications: 26563160; Phenotypes: CD8 deficiency familial, 608957; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.211 CD8A Eleanor Williams Classified gene: CD8A as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.211 CD8A 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 v2.211 CD8A Eleanor Williams Gene: cd8a has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 CD8A Eleanor Williams Source Other was added to CD8A.
Publications for gene CD8A were updated from 32048120; 17658607; 11435463; 32086639 to 32048120; 32086639; 26563160; 17658607; 11435463
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 CD8A Eleanor Williams reviewed gene: CD8A: Rating: ; Mode of pathogenicity: ; Publications: 17658607, 26563160, 11435463; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 CD8A Louise Daugherty Source IUIS Classification December 2019 was added to CD8A.
Added phenotypes Recurrent infections, may be asymptomatic; Immunodeficiencies affecting cellular and humoral immunity for gene: CD8A
Publications for gene CD8A were updated from 11435463; 17658607 to 32048120; 17658607; 11435463; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease CD8A Louise Daugherty commented on gene: CD8A
Primary immunodeficiency or monogenic inflammatory bowel disease CD8A Louise Daugherty marked gene: CD8A as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CD8A Louise Daugherty commented on gene: CD8A
Primary immunodeficiency or monogenic inflammatory bowel disease CD8A Sophie Hambleton reviewed gene: CD8A
Primary immunodeficiency or monogenic inflammatory bowel disease CD8A Sophie Hambleton reviewed gene: CD8A
Primary immunodeficiency or monogenic inflammatory bowel disease CD8A Louise Daugherty marked gene: CD8A as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CD8A Louise Daugherty commented on gene: CD8A
Primary immunodeficiency or monogenic inflammatory bowel disease CD8A Louise Daugherty commented on gene: CD8A
Primary immunodeficiency or monogenic inflammatory bowel disease CD8A Louise Daugherty commented on gene: CD8A
Primary immunodeficiency or monogenic inflammatory bowel disease CD8A Louise Daugherty commented on CD8A
Primary immunodeficiency or monogenic inflammatory bowel disease CD8A Louise Daugherty commented on CD8A
Primary immunodeficiency or monogenic inflammatory bowel disease CD8A Louise Daugherty commented on CD8A
Primary immunodeficiency or monogenic inflammatory bowel disease CD8A Louise Daugherty reviewed CD8A
Primary immunodeficiency or monogenic inflammatory bowel disease CD8A Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease CD8A Louise Daugherty Added gene to panel