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Primary immunodeficiency or monogenic inflammatory bowel disease v2.303 RASGRP1 Eleanor Williams Classified gene: RASGRP1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.303 RASGRP1 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 v2.303 RASGRP1 Eleanor Williams Gene: rasgrp1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 RASGRP1 Eleanor Williams Source Other was added to RASGRP1.
Publications for gene RASGRP1 were updated from 30030704; 29282224; 29155103; 28822832; 27776107 to 29155103; 28822832; 29282224; 27776107; 30030704
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 RASGRP1 Eleanor Williams reviewed gene: RASGRP1: Rating: ; Mode of pathogenicity: ; Publications: 29155103, 30030704, 27776107; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.136 RASGRP1 Louise Daugherty Phenotypes for gene: RASGRP1 were changed from Recurrent pneumonia, herpesvirus infections, EBV associated lymphoma; Diseases of Immune Dysregulation; EBV-induced lymphoma; Immunodeficiency; Immunodeficiency 64, 618534 to Recurrent pneumonia, herpesvirus infections, EBV associated lymphoma; Diseases of Immune Dysregulation; EBV-induced lymphoma; Immunodeficiency; Immunodeficiency 64, 618534; Immunodeficiency; immunde dysregulation; EBV-induced lymphoma
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 RASGRP1 Sophie Hambleton reviewed gene: RASGRP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RASGRP1 Louise Daugherty commented on gene: RASGRP1: 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 RASGRP1 Louise Daugherty edited their review of gene: RASGRP1: Added comment: 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.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RASGRP1 Kimberly Gilmour reviewed gene: RASGRP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RASGRP1 Tracy Briggs reviewed gene: RASGRP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 RASGRP1 Louise Daugherty Source NHS GMS was added to RASGRP1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 RASGRP1 Louise Daugherty Source North West GLH was added to RASGRP1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 RASGRP1 Louise Daugherty Source London North GLH was added to RASGRP1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.53 RASGRP1 Louise Daugherty Added comment: Comment on publications: added further publications to further support gene-disease association
Primary immunodeficiency or monogenic inflammatory bowel disease v1.53 RASGRP1 Louise Daugherty Publications for gene: RASGRP1 were set to 30030704; 29282224
Primary immunodeficiency or monogenic inflammatory bowel disease v1.52 RASGRP1 Louise Daugherty Added comment: Comment on phenotypes: added OMIM MIM id
Primary immunodeficiency or monogenic inflammatory bowel disease v1.52 RASGRP1 Louise Daugherty Phenotypes for gene: RASGRP1 were changed from Recurrent pneumonia, herpesvirus infections, EBV associated lymphoma; Diseases of Immune Dysregulation; EBV-induced lymphoma; Immunodeficiency, to Recurrent pneumonia, herpesvirus infections, EBV associated lymphoma; Diseases of Immune Dysregulation; EBV-induced lymphoma; Immunodeficiency; Immunodeficiency 64, 618534
Primary immunodeficiency or monogenic inflammatory bowel disease v1.13 RASGRP1 Louise Daugherty Classified gene: RASGRP1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.13 RASGRP1 Louise Daugherty Added comment: Comment on list classification: Changed status from Red to Green from external review and reference to two recent publications, Somekh I et al., PMID: 30030704 (2018) and Winter S et al., PMID: 29282224, there are more than three unrelated families described with immunodeficiency phenotype.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.13 RASGRP1 Louise Daugherty Gene: rasgrp1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v1.12 RASGRP1 Louise Daugherty Added comment: Comment on phenotypes: added phenotypes suggested by external reviewer
Primary immunodeficiency or monogenic inflammatory bowel disease v1.12 RASGRP1 Louise Daugherty Phenotypes for gene: RASGRP1 were changed from Recurrent pneumonia, herpesvirus infections, EBV associated lymphoma; Diseases of Immune Dysregulation to Recurrent pneumonia, herpesvirus infections, EBV associated lymphoma; Diseases of Immune Dysregulation; EBV-induced lymphoma; Immunodeficiency,
Primary immunodeficiency or monogenic inflammatory bowel disease v1.11 RASGRP1 Louise Daugherty Added comment: Comment on publications: Added publications suggested by external reviewer to support upgrading of the gene to Green
Primary immunodeficiency or monogenic inflammatory bowel disease v1.11 RASGRP1 Louise Daugherty Publications for gene: RASGRP1 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.10 RASGRP1 Louise Daugherty Added comment: Comment on mode of inheritance: added MOI suggested by external reviewer and from publications
Primary immunodeficiency or monogenic inflammatory bowel disease v1.10 RASGRP1 Louise Daugherty Mode of inheritance for gene: RASGRP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease RASGRP1 Zornitza Stark reviewed gene: RASGRP1
Primary immunodeficiency or monogenic inflammatory bowel disease RASGRP1 Louise Daugherty commented on gene: RASGRP1
Primary immunodeficiency or monogenic inflammatory bowel disease RASGRP1 Louise Daugherty reviewed gene: RASGRP1
Primary immunodeficiency or monogenic inflammatory bowel disease RASGRP1 Louise Daugherty Added gene to panel