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Primary immunodeficiency or monogenic inflammatory bowel disease v7.26 SAMD9 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SAMD9.
Tag Q3_24_NHS_review was removed from gene: SAMD9.
Primary immunodeficiency or monogenic inflammatory bowel disease v7.26 SAMD9 Achchuthan Shanmugasundram commented on gene: SAMD9: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v7.25 SAMD9 Achchuthan Shanmugasundram Source NHS GMS was added to SAMD9.
Source Expert Review Green was added to SAMD9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v6.8 SAMD9 Achchuthan Shanmugasundram Classified gene: SAMD9 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v6.8 SAMD9 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Nour Elkhateeb, there is sufficient evidence available for the association of SAMD9 gene with immunodeficiency and auto-inflammation. Hence, this gene should be promoted to green rating in the next GMS update.
Primary immunodeficiency or monogenic inflammatory bowel disease v6.8 SAMD9 Achchuthan Shanmugasundram Gene: samd9 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v6.7 SAMD9 Achchuthan Shanmugasundram Phenotypes for gene: SAMD9 were changed from ataxia-thrombocytopenia syndrome; IUGR with gonadal abnormalities, adrenal failure, MDS with chromosome 7 aberrations, predisposition to infections, enteropathy, absent spleen; MIRAGE syndrome (Myelodysplasia, Infection, Restriction of growth, Adrenal insufficiency, Genital phenotypes, and Enteropathy); Bone marrow failure; Combined immunodeficiencies with associated or syndromic features to MIRAGE syndrome, OMIM:617053
Primary immunodeficiency or monogenic inflammatory bowel disease v6.6 SAMD9 Achchuthan Shanmugasundram Publications for gene: SAMD9 were set to 28487541; 29535429; 32048120; 29266745; 29175836; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v6.5 SAMD9 Achchuthan Shanmugasundram Mode of inheritance for gene: SAMD9 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v6.4 SAMD9 Achchuthan Shanmugasundram Tag Q3_24_NHS_review tag was added to gene: SAMD9.
Primary immunodeficiency or monogenic inflammatory bowel disease v6.4 SAMD9 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SAMD9.
Primary immunodeficiency or monogenic inflammatory bowel disease v6.4 SAMD9 Achchuthan Shanmugasundram changed review comment from: PMID:27182967 reported 11 patients from 10 unrelated families with a syndromic adrenal hypoplasia, which was named as MIRAGE syndrome (myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy, MIM #617053). These patients were identified with eight different monoallelic variants in SAMD9 gene and 10 patients were reported with recurrent invasive infections.

PMID:31620126 reported a patient presenting with prominent gastrointestinal tract involvement and immunodeficiency, but without any sign of adrenal insufficiency typical for MIRAGE syndrome. This patient was identified with a novel SAMD9 variant (p.Arg824Gln).

PMID:33423168 presented the evidence of immunodeficiency and auto-inflammation in 10 patients genetically diagnosed with MIRAGE syndrome.

This gene has been associated with relevant phenotypes in both OMIM (MIM #617053) and Gene2Phenotype ('definitive' rating on the DD panel); to: PMID:27182967 reported 11 patients from 10 unrelated families with a syndromic adrenal hypoplasia, which was named as MIRAGE syndrome (myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy, MIM #617053). These patients were identified with eight different monoallelic variants in SAMD9 gene and 10 patients were reported with recurrent invasive infections.

PMID:31620126 reported a patient presenting with prominent gastrointestinal tract involvement and immunodeficiency, but without any sign of adrenal insufficiency typical for MIRAGE syndrome. This patient was identified with a novel SAMD9 variant (p.Arg824Gln).

PMID:33423168 presented the evidence of immunodeficiency and auto-inflammation in 10 patients genetically diagnosed with MIRAGE syndrome.

This gene has been associated with relevant phenotypes in both OMIM (MIM #617053) and Gene2Phenotype ('definitive' rating on the DD panel).
Primary immunodeficiency or monogenic inflammatory bowel disease v6.4 SAMD9 Achchuthan Shanmugasundram reviewed gene: SAMD9: Rating: GREEN; Mode of pathogenicity: None; Publications: 27182967, 31620126, 33423168; Phenotypes: MIRAGE syndrome, OMIM:617053; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v6.4 SAMD9 Nour Elkhateeb changed review comment from: Evidence in literature of immunodeficiency in several individuals with SAMD9-related MIRAGE syndrome. (PMID: 31620126, 31620126, 28202457, 33423168).; to: Evidence in literature of immunodeficiency in several individuals with SAMD9-related MIRAGE syndrome. (PMID: 31620126, 31620126, 28202457, 33423168).
Primary immunodeficiency or monogenic inflammatory bowel disease v6.4 SAMD9 Nour Elkhateeb reviewed gene: SAMD9: Rating: ; Mode of pathogenicity: None; Publications: PMID: 31620126, 31620126, 28202457, 33423168; Phenotypes: Immunodeficiency, Recurrent infections, Mild decrease in natural killer cell activity, Low CD4-to-CD8 ratio, Mild decrease in neutrophil phagocytic activity; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 SAMD9L Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: SAMD9L.
Tag Q4_23_NHS_review was removed from gene: SAMD9L.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 SAMD9L Sarah Leigh reviewed gene: SAMD9L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 SAMD9L Achchuthan Shanmugasundram Source Expert Review Green was added to SAMD9L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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