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Primary immunodeficiency or monogenic inflammatory bowel disease v4.192 NHEJ1 Arina Puzriakova Added comment: Comment on phenotypes: Previous (overwritten) phenotypes: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation;Severe combined immunodeficiency with microcephaly, growth retardation and sensitivity to ionizing radiation, 611291;T-B- SCID;T-B+ SCID;Combined immunodeficiency;Cernunnos/XLF deficiency;Nl NK, radiation sensitive, microcephaly;Immunodeficiencies affecting cellular and humoral immunity
Primary immunodeficiency or monogenic inflammatory bowel disease v4.192 NHEJ1 Arina Puzriakova Phenotypes for gene: NHEJ1 were changed from Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation; Severe combined immunodeficiency with microcephaly, growth retardation and sensitivity to ionizing radiation, 611291; T-B- SCID; T-B+ SCID; Combined immunodeficiency; Cernunnos/XLF deficiency; Nl NK, radiation sensitive, microcephaly; Immunodeficiencies affecting cellular and humoral immunity to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, OMIM:611291
Primary immunodeficiency or monogenic inflammatory bowel disease v2.284 NHEJ1 Eleanor Williams Classified gene: NHEJ1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.284 NHEJ1 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 v2.284 NHEJ1 Eleanor Williams Gene: nhej1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 NHEJ1 Eleanor Williams Source Other was added to NHEJ1.
Publications for gene NHEJ1 were updated from to 16439204; 20113890
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 NHEJ1 Eleanor Williams reviewed gene: NHEJ1: Rating: ; Mode of pathogenicity: ; Publications: 20113890, 16439204; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NHEJ1 Louise Daugherty commented on gene: NHEJ1: 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 NHEJ1 Louise Daugherty commented on gene: NHEJ1: 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 NHEJ1 Kimberly Gilmour commented on gene: NHEJ1: agree with green gene
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NHEJ1 Tracy Briggs commented on gene: NHEJ1: YES- this is covered on our targeted exome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 NHEJ1 Louise Daugherty Source NHS GMS was added to NHEJ1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 NHEJ1 Louise Daugherty Source North West GLH was added to NHEJ1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 NHEJ1 Louise Daugherty Source London North GLH was added to NHEJ1.
Primary immunodeficiency or monogenic inflammatory bowel disease NHEJ1 Louise Daugherty commented on gene: NHEJ1
Primary immunodeficiency or monogenic inflammatory bowel disease NHEJ1 Louise Daugherty marked gene: NHEJ1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease NHEJ1 Louise Daugherty commented on NHEJ1
Primary immunodeficiency or monogenic inflammatory bowel disease NHEJ1 Louise Daugherty commented on NHEJ1
Primary immunodeficiency or monogenic inflammatory bowel disease NHEJ1 Louise Daugherty reviewed NHEJ1
Primary immunodeficiency or monogenic inflammatory bowel disease NHEJ1 Louise Daugherty Added gene to panel