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Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 LIG1 Arina Puzriakova Tag for-review was removed from gene: LIG1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 LIG1 Arina Puzriakova commented on gene: LIG1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 LIG1 Arina Puzriakova Source Expert Review Green was added to LIG1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.345 LIG1 Arina Puzriakova Classified gene: LIG1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.345 LIG1 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.345 LIG1 Arina Puzriakova Gene: lig1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.344 LIG1 Arina Puzriakova Tag for-review tag was added to gene: LIG1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.139 LIG1 Rebecca Foulger Classified gene: LIG1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.139 LIG1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green. Red review pre-dates paper PMID:30395541 which provides 5 patients (3 kindreds) for evidence of association with immunodeficiency. Although severity of phenotype is variable, just sufficient cases for inclusion.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.139 LIG1 Rebecca Foulger Gene: lig1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.138 LIG1 Rebecca Foulger commented on gene: LIG1
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 LIG1 Zornitza Stark reviewed gene: LIG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30395541; Phenotypes: Combined immunodeficiency, Lymphopaenia, Hypogammaglobulinaemia, Recurrent bacterial and viral infections, Growth retardation, Sun sensitivity, radiation sensitivity, Macrocytosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 LIG1 Louise Daugherty edited their review of gene: LIG1: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 30395541
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 LIG1 Louise Daugherty Publications for gene LIG1 were updated from 32048120; 1581963; 32086639 to 30395541; 1581963; 32086639; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 LIG1 Louise Daugherty Source IUIS Classification December 2019 was added to LIG1.
Added phenotypes Recurrent respiratory infections, growth retardation, sun sensitivity, lymphoma, radiation sensitivity; Combined immunodeficiencies with associated or syndromic features for gene: LIG1
Publications for gene LIG1 were updated from 1581963 to 32048120; 1581963; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease LIG1 Louise Daugherty marked gene: LIG1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease LIG1 Louise Daugherty edited their review of gene: LIG1
Primary immunodeficiency or monogenic inflammatory bowel disease LIG1 Louise Daugherty classified LIG1 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease LIG1 Louise Daugherty commented on gene: LIG1
Primary immunodeficiency or monogenic inflammatory bowel disease LIG1 Sophie Hambleton reviewed gene: LIG1
Primary immunodeficiency or monogenic inflammatory bowel disease LIG1 Louise Daugherty commented on gene: LIG1
Primary immunodeficiency or monogenic inflammatory bowel disease LIG1 Olivia Niblock classified LIG1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease LIG1 Olivia Niblock commented on LIG1
Primary immunodeficiency or monogenic inflammatory bowel disease LIG1 Olivia Niblock commented on LIG1
Primary immunodeficiency or monogenic inflammatory bowel disease LIG1 Louise Daugherty commented on LIG1
Primary immunodeficiency or monogenic inflammatory bowel disease LIG1 Louise Daugherty commented on LIG1
Primary immunodeficiency or monogenic inflammatory bowel disease LIG1 Louise Daugherty commented on LIG1
Primary immunodeficiency or monogenic inflammatory bowel disease LIG1 Louise Daugherty reviewed LIG1
Primary immunodeficiency or monogenic inflammatory bowel disease LIG1 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease LIG1 Louise Daugherty Added gene to panel