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Primary immunodeficiency or monogenic inflammatory bowel disease v4.11 BLM Arina Puzriakova Phenotypes for gene: BLM were changed from Bloom syndrome, 210900; Immunodeficiency; Short stature, dysmorphic facies, sun-sensitive erythema, marrow failure, leukemia, lymphoma, chromosomal instability; Combined immunodeficiencies with associated or syndromic features to Bloom syndrome, OMIM:210900; Immunodeficiency; Short stature, dysmorphic facies, sun-sensitive erythema, marrow failure, leukemia, lymphoma, chromosomal instability; Combined immunodeficiencies with associated or syndromic features
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 BLM Louise Daugherty commented on gene: BLM: 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 BLM Louise Daugherty commented on gene: BLM: 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 BLM Kimberly Gilmour reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 BLM Tracy Briggs reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 BLM Louise Daugherty Source NHS GMS was added to BLM.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 BLM Louise Daugherty Source North West GLH was added to BLM.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 BLM Louise Daugherty Source London North GLH was added to BLM.
Primary immunodeficiency or monogenic inflammatory bowel disease BLM Louise Daugherty commented on gene: BLM
Primary immunodeficiency or monogenic inflammatory bowel disease BLM Louise Daugherty marked gene: BLM as ready
Primary immunodeficiency or monogenic inflammatory bowel disease BLM Sophie Hambleton reviewed gene: BLM
Primary immunodeficiency or monogenic inflammatory bowel disease BLM Louise Daugherty commented on BLM
Primary immunodeficiency or monogenic inflammatory bowel disease BLM Louise Daugherty classified BLM as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease BLM Louise Daugherty edited their review of BLM
Primary immunodeficiency or monogenic inflammatory bowel disease BLM Louise Daugherty commented on BLM
Primary immunodeficiency or monogenic inflammatory bowel disease BLM Louise Daugherty commented on BLM
Primary immunodeficiency or monogenic inflammatory bowel disease BLM Louise Daugherty commented on BLM
Primary immunodeficiency or monogenic inflammatory bowel disease BLM Louise Daugherty reviewed BLM
Primary immunodeficiency or monogenic inflammatory bowel disease BLM Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease BLM Louise Daugherty Added gene to panel