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Primary immunodeficiency or monogenic inflammatory bowel disease v2.434 IKZF3 Boaz Palterer gene: IKZF3 was added
gene: IKZF3 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: IKZF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: IKZF3 were set to B cell deficiency; EBV inefctions suspectibility; hypogammaglobulinemia
Penetrance for gene: IKZF3 were set to unknown
Review for gene: IKZF3 was set to RED
Added comment: Motoi Yamashita et al. ( https://www.nature.com/articles/s41590-021-00951-z ) identified 3 patients from a kindred harboring the missense G159R variant in AIOLOS, encoded by the IKZF3 gene. They demonstrated that the variant acts as a dominant-negative mutation through heterodimeric interference by disrupting IKAROS (IKZF1) function.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 IKZF1 Louise Daugherty edited their review of gene: IKZF1: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 29889099
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 IKZF1 Louise Daugherty Publications for gene IKZF1 were updated from 21548011; 26981933 to 29889099; 21548011; 26981933
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IKZF1 Louise Daugherty commented on gene: IKZF1: 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 IKZF1 Louise Daugherty commented on gene: IKZF1: 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 IKZF1 Kimberly Gilmour reviewed gene: IKZF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IKZF1 Tracy Briggs reviewed gene: IKZF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IKZF1 Louise Daugherty Source NHS GMS was added to IKZF1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IKZF1 Louise Daugherty Source North West GLH was added to IKZF1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IKZF1 Louise Daugherty Source London North GLH was added to IKZF1.
Primary immunodeficiency or monogenic inflammatory bowel disease IKZF1 Louise Daugherty commented on gene: IKZF1
Primary immunodeficiency or monogenic inflammatory bowel disease IKZF1 Louise Daugherty marked gene: IKZF1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease IKZF1 Louise Daugherty commented on IKZF1
Primary immunodeficiency or monogenic inflammatory bowel disease IKZF1 Louise Daugherty commented on IKZF1
Primary immunodeficiency or monogenic inflammatory bowel disease IKZF1 Louise Daugherty reviewed IKZF1
Primary immunodeficiency or monogenic inflammatory bowel disease IKZF1 Louise Daugherty Added gene to panel