Activity

Filter

Cancel
Date Panel Item Activity
35 actions
Primary immunodeficiency or monogenic inflammatory bowel disease v7.26 CASP10 Achchuthan Shanmugasundram Tag Q3_24_expert_review was removed from gene: CASP10.
Tag Q3_24_demote_amber was removed from gene: CASP10.
Tag Q3_24_MOI was removed from gene: CASP10.
Primary immunodeficiency or monogenic inflammatory bowel disease v7.26 CASP10 Achchuthan Shanmugasundram reviewed gene: CASP10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v7.25 CASP10 Achchuthan Shanmugasundram Source Expert Review Amber was added to CASP10.
Mode of inheritance for gene CASP10 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v6.4 CASP10 Sarah Leigh Added comment: Comment on mode of inheritance: Both monoallelic and biallelic variant have been reported (PMID: 38704374).
Primary immunodeficiency or monogenic inflammatory bowel disease v6.4 CASP10 Sarah Leigh Mode of inheritance for gene: CASP10 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary immunodeficiency or monogenic inflammatory bowel disease v6.3 CASP10 Sarah Leigh Tag Q3_24_MOI tag was added to gene: CASP10.
Primary immunodeficiency or monogenic inflammatory bowel disease v6.3 CASP10 Sarah Leigh edited their review of gene: CASP10: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v6.3 CASP10 Sarah Leigh Tag Q3_24_expert_review tag was added to gene: CASP10.
Tag Q3_24_demote_amber tag was added to gene: CASP10.
Primary immunodeficiency or monogenic inflammatory bowel disease v6.3 CASP10 Sarah Leigh Publications for gene: CASP10 were set to 25663566; 16446975; 16611303; 10412980; 21447005; 27378136; 9028957
Primary immunodeficiency or monogenic inflammatory bowel disease v6.2 CASP10 Sarah Leigh edited their review of gene: CASP10: Added comment: PMID: 38704374, aimed to assess the impact of CASP10 variants on autoimmune lymphoproliferative syndrome (ALPS) pathogenesis, by assessing the effect of CASP10 variants within the Imagine Institute's genetic platform (INSERM UMR 1163, Paris, France). Using this large dataset, the authors were able to confirm that the missense variants p.V410I and p.Y446C, are present in the general population at a high frequency. Furthermore, these variants do not affect the CASP10 catalytic domain and no difference was observed in CASP10 protein expression or FAS-mediated apoptosis between healthy controls and subjects bearing these variants in both homozygous and heterozygous states. Two patient had the CASP10 variant p.C401LfsX15, which is lies within QACQG catalytic site in the CASP10 catalytic domain. The patient S2 was homozygous for this variant, resulting in a lack of Caspase-10 RNA and protein. However, the authors report that "FAS-mediated apoptosis was surprisingly comparable to healthy controls in each of the tested cell lines suspected to have a role in ALPS". In patient S1, who was heterozygous p.C401LfsX15, the authors report that although the levels of CASP10 protein expression was reduced, there was normal FAS-mediated apoptosis compared to healthy controls. From these results, the authors conclude that it appears that "Caspase-10 is dispensable for FAS-mediated apoptosis: an undetectable CASP10 protein expression has no impact on lymphocyte apoptosis and on individuals’ clinical and laboratory phenotype". Although they do comment, that post-translational or epigenetic mechanisms may play a role, as yet unidentified.; Changed rating: AMBER; Changed publications to: 38704374
Primary immunodeficiency or monogenic inflammatory bowel disease v6.2 CASP10 Sarah Leigh Added comment: Comment on phenotypes: Autoimmune lymphoproliferative syndrome (ALPS); Adenopathies, splenomegaly, autoimmunity; Diseases of Immune Dysregulation
Primary immunodeficiency or monogenic inflammatory bowel disease v6.2 CASP10 Sarah Leigh Phenotypes for gene: CASP10 were changed from Autoimmune lymphoproliferative syndrome, type II, 603909; Autoimmune lymphoproliferative syndrome (ALPS); Adenopathies, splenomegaly, autoimmunity; Diseases of Immune Dysregulation to Autoimmune lymphoproliferative syndrome, type II, OMIM:603909; autoimmune lymphoproliferative syndrome type 2A, MONDO:0011383
Primary immunodeficiency or monogenic inflammatory bowel disease v2.228 CASP10 Eleanor Williams Classified gene: CASP10 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.228 CASP10 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green 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 v2.228 CASP10 Eleanor Williams Gene: casp10 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 CASP10 Eleanor Williams Source Other was added to CASP10.
Publications for gene CASP10 were updated from 25663566; 21447005; 10412980; 16446975; 9028957; 16611303 to 25663566; 16446975; 16611303; 10412980; 21447005; 27378136; 9028957
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 CASP10 Eleanor Williams reviewed gene: CASP10: Rating: ; Mode of pathogenicity: ; Publications: 16446975, 27378136; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CASP10 Louise Daugherty commented on gene: CASP10: 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 enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CASP10 Louise Daugherty commented on gene: CASP10: 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 enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CASP10 Kimberly Gilmour reviewed gene: CASP10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CASP10 Tracy Briggs reviewed gene: CASP10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CASP10 Louise Daugherty Source NHS GMS was added to CASP10.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CASP10 Louise Daugherty Source North West GLH was added to CASP10.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CASP10 Louise Daugherty Source London North GLH was added to CASP10.
Primary immunodeficiency or monogenic inflammatory bowel disease CASP10 Louise Daugherty commented on gene: CASP10
Primary immunodeficiency or monogenic inflammatory bowel disease CASP10 Louise Daugherty marked gene: CASP10 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CASP10 Sophie Hambleton reviewed gene: CASP10
Primary immunodeficiency or monogenic inflammatory bowel disease CASP10 Louise Daugherty classified CASP10 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease CASP10 Louise Daugherty commented on CASP10
Primary immunodeficiency or monogenic inflammatory bowel disease CASP10 Louise Daugherty edited their review of CASP10
Primary immunodeficiency or monogenic inflammatory bowel disease CASP10 Louise Daugherty commented on CASP10
Primary immunodeficiency or monogenic inflammatory bowel disease CASP10 Louise Daugherty commented on CASP10
Primary immunodeficiency or monogenic inflammatory bowel disease CASP10 Louise Daugherty commented on CASP10
Primary immunodeficiency or monogenic inflammatory bowel disease CASP10 Louise Daugherty reviewed CASP10
Primary immunodeficiency or monogenic inflammatory bowel disease CASP10 Louise Daugherty Added gene to panel