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Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 DNASE1L3 Arina Puzriakova Tag for-review was removed from gene: DNASE1L3.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 DNASE1L3 Arina Puzriakova commented on gene: DNASE1L3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 DNASE1L3 Arina Puzriakova Source Expert Review Green was added to DNASE1L3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.348 DNASE1L3 Arina Puzriakova Classified gene: DNASE1L3 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.348 DNASE1L3 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 v2.348 DNASE1L3 Arina Puzriakova Gene: dnase1l3 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.347 DNASE1L3 Arina Puzriakova Tag for-review tag was added to gene: DNASE1L3.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.133 DNASE1L3 Catherine Snow Classified gene: DNASE1L3 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.133 DNASE1L3 Catherine Snow Added comment: Comment on list classification: Identified by expert review as Green. PMID: 30008451 reports a SLE patient with (c.289_290delAC/p.Thr97Ilefs*2) in DNASE1L3 in 1 patient. This variant had previously been reported in PMID: 23666765 for Hypocomplementemic Urticarial Vasculitis (HUVs) - Systemic lupus erythematosus (SLE) develops in >50% of patients with HUVS
Primary immunodeficiency or monogenic inflammatory bowel disease v2.133 DNASE1L3 Catherine Snow Gene: dnase1l3 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 DNASE1L3 Zornitza Stark reviewed gene: DNASE1L3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22019780, 30008451; Phenotypes: Systemic lupus erythematosus 16, MIM# 614420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 DNASE1L3 Louise Daugherty edited their review of gene: DNASE1L3: Added comment: Added publication referenced by IUIS december 2019 update; Changed publications: 22019780, 23666765, 27821515
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 DNASE1L3 Louise Daugherty Publications for gene DNASE1L3 were updated from 32048120; 22019780; 32086639 to 27821515; 23666765; 22019780; 32086639; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 DNASE1L3 Louise Daugherty Source IUIS Classification December 2019 was added to DNASE1L3.
Added phenotypes Systemic lupus erythematosus, lupus nephritis, hypocomplementemic urticarial vasculitis; Autoinflammatory Disorders for gene: DNASE1L3
Publications for gene DNASE1L3 were updated from 22019780 to 32048120; 22019780; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 DNASE1L3 Louise Daugherty commented on gene: DNASE1L3: SLE in Arab families (6 but consistent with founder effect)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.116 DNASE1L3 Louise Daugherty commented on gene: DNASE1L3: 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 only enough evidence to rate this gene Amber.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.116 DNASE1L3 Louise Daugherty edited their review of gene: DNASE1L3: Added comment: 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 only enough evidence to rate this gene Amber; Changed rating: AMBER
Primary immunodeficiency or monogenic inflammatory bowel disease v1.115 DNASE1L3 Kimberly Gilmour reviewed gene: DNASE1L3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.114 DNASE1L3 Tracy Briggs reviewed gene: DNASE1L3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 DNASE1L3 Louise Daugherty MASP2 was changed to DNASE1L3
Primary immunodeficiency or monogenic inflammatory bowel disease v1.63 DNASE1L3 Louise Daugherty Source North West GLH was added to DNASE1L3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.62 DNASE1L3 Louise Daugherty Source London North GLH was added to DNASE1L3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.61 DNASE1L3 Louise Daugherty Source NHS GMS was added to DNASE1L3.
Primary immunodeficiency or monogenic inflammatory bowel disease DNASE1L3 Louise Daugherty marked gene: DNASE1L3 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease DNASE1L3 Louise Daugherty classified DNASE1L3 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease DNASE1L3 Louise Daugherty commented on gene: DNASE1L3
Primary immunodeficiency or monogenic inflammatory bowel disease DNASE1L3 Louise Daugherty classified DNASE1L3 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease DNASE1L3 Louise Daugherty commented on gene: DNASE1L3
Primary immunodeficiency or monogenic inflammatory bowel disease DNASE1L3 Louise Daugherty commented on gene: DNASE1L3
Primary immunodeficiency or monogenic inflammatory bowel disease DNASE1L3 Louise Daugherty commented on gene: DNASE1L3
Primary immunodeficiency or monogenic inflammatory bowel disease DNASE1L3 Louise Daugherty reviewed gene: DNASE1L3
Primary immunodeficiency or monogenic inflammatory bowel disease DNASE1L3 Sophie Hambleton reviewed gene: DNASE1L3
Primary immunodeficiency or monogenic inflammatory bowel disease DNASE1L3 Louise Daugherty Added gene to panel