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Primary immunodeficiency or monogenic inflammatory bowel disease v2.440 ACD Arina Puzriakova Phenotypes for gene: ACD were changed from Dyskeratosis congenita 6, 616553; Dyskeratosis congenita 7, 616553; Hoyeraal-Hreidarsson syndrome to Dyskeratosis congenita, autosomal dominant 6, OMIM:616553; Dyskeratosis congenita, autosomal recessive 7, OMIM:616553
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ACD Louise Daugherty commented on gene: ACD: 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 ACD Louise Daugherty edited their review of gene: ACD: 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 ACD Kimberly Gilmour reviewed gene: ACD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ACD Tracy Briggs reviewed gene: ACD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 ACD Louise Daugherty Source NHS GMS was added to ACD.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 ACD Louise Daugherty Source North West GLH was added to ACD.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 ACD Louise Daugherty Source London North GLH was added to ACD.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.29 ACD Louise Daugherty Tag watchlist was removed from gene: ACD.
Primary immunodeficiency or monogenic inflammatory bowel disease ACD Louise Daugherty commented on gene: ACD
Primary immunodeficiency or monogenic inflammatory bowel disease ACD Louise Daugherty marked gene: ACD as ready
Primary immunodeficiency or monogenic inflammatory bowel disease ACD Louise Daugherty classified ACD as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease ACD Louise Daugherty commented on gene: ACD
Primary immunodeficiency or monogenic inflammatory bowel disease ACD Sophie Hambleton reviewed gene: ACD
Primary immunodeficiency or monogenic inflammatory bowel disease ACD Louise Daugherty edited their review of ACD
Primary immunodeficiency or monogenic inflammatory bowel disease ACD Louise Daugherty edited their review of ACD
Primary immunodeficiency or monogenic inflammatory bowel disease ACD Louise Daugherty commented on ACD
Primary immunodeficiency or monogenic inflammatory bowel disease ACD Louise Daugherty reviewed ACD
Primary immunodeficiency or monogenic inflammatory bowel disease ACD Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease ACD Louise Daugherty Added gene to panel