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Primary immunodeficiency or monogenic inflammatory bowel disease v4.77 SAMD9L Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: SAMD9L.
Tag Q4_23_NHS_review tag was added to gene: SAMD9L.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.77 SAMD9L Achchuthan Shanmugasundram Classified gene: SAMD9L as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.77 SAMD9L Achchuthan Shanmugasundram Gene: samd9l has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.76 SAMD9L Achchuthan Shanmugasundram Mode of inheritance for gene: SAMD9L was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.75 SAMD9L Achchuthan Shanmugasundram reviewed gene: SAMD9L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: autoinflammatory syndrome, MONDO:0019751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.75 SAMD9L Achchuthan Shanmugasundram Publications for gene: SAMD9L were set to 32048120; 28202457; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v4.41 SAMD9L Hannah Knight reviewed gene: SAMD9L: Rating: GREEN; Mode of pathogenicity: None; Publications: 31874111, 36969289; Phenotypes: SAMD9L-associated autoinflammatory disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 SAMD9L Louise Daugherty Source IUIS Classification December 2019 was added to SAMD9L.
Added phenotypes Bone marrow failure; MDS, neurological features for gene: SAMD9L
Publications for gene SAMD9L were updated from 28202457 to 32048120; 28202457; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 SAMD9 Louise Daugherty Source IUIS Classification December 2019 was added to SAMD9.
Mode of inheritance for gene SAMD9 was changed from Other - please specifiy in evaluation comments to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes IUGR with gonadal abnormalities, adrenal failure, MDS with chromosome 7 aberrations, predisposition to infections, enteropathy, absent spleen; Bone marrow failure for gene: SAMD9
Publications for gene SAMD9 were updated from 28487541; 29175836; 29266745; 29535429 to 28487541; 29535429; 32048120; 29266745; 29175836; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 SAMD9L Sophie Hambleton commented on gene: SAMD9L
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 SAMD9L Louise Daugherty commented on gene: SAMD9L: Ataxia pancytopaenia syndrome - 2 unrelated families, no functional work - amber association, is there an immunological phenotype?
Primary immunodeficiency or monogenic inflammatory bowel disease v1.123 SAMD9L Louise Daugherty Classified gene: SAMD9L as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.123 SAMD9L Louise Daugherty Gene: samd9l has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v1.116 SAMD9L Louise Daugherty commented on gene: SAMD9L: 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 SAMD9L Louise Daugherty edited their review of gene: SAMD9L: 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 SAMD9L Kimberly Gilmour reviewed gene: SAMD9L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.114 SAMD9L Tracy Briggs reviewed gene: SAMD9L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.63 SAMD9L Louise Daugherty Source North West GLH was added to SAMD9L.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.62 SAMD9L Louise Daugherty Source London North GLH was added to SAMD9L.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.61 SAMD9L Louise Daugherty Source NHS GMS was added to SAMD9L.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.57 SAMD9L Louise Daugherty Added comment: Comment on publications: Added PMID: 28202457 Tesi et al, Gain of function SAMD9L muttaiosn caise a syndorme of cytopenaia, immunodefiency, MDS and neurological symptoms BLOOD, 2017, 2266-2279 suggested by Kimberly Gilmour (LNGLH) on behalf of the Specialist Test Group to support inclusion of this gene on the panel and a Amber rating.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.57 SAMD9L Louise Daugherty Publications for gene: SAMD9L were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.38 SAMD9L Louise Daugherty Mode of inheritance for gene: SAMD9L was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary immunodeficiency or monogenic inflammatory bowel disease SAMD9L Louise Daugherty commented on gene: SAMD9L
Primary immunodeficiency or monogenic inflammatory bowel disease SAMD9 Louise Daugherty marked gene: SAMD9 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease SAMD9 Louise Daugherty classified SAMD9 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease SAMD9 Louise Daugherty commented on gene: SAMD9
Primary immunodeficiency or monogenic inflammatory bowel disease SAMD9L Louise Daugherty reviewed gene: SAMD9L
Primary immunodeficiency or monogenic inflammatory bowel disease SAMD9 Louise Daugherty reviewed gene: SAMD9
Primary immunodeficiency or monogenic inflammatory bowel disease SAMD9 Sophie Hambleton reviewed gene: SAMD9
Primary immunodeficiency or monogenic inflammatory bowel disease SAMD9 Louise Daugherty Added gene to panel