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Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 HPS4 Louise Daugherty commented on gene: HPS4: Hermansky-Pudlak - OCA, bleeding, lysosomal ceroid storage: green association, phenotype
Primary immunodeficiency or monogenic inflammatory bowel disease v1.99 HPS4 Louise Daugherty changed review comment from: Comment on list classification: Changed rating from Red to Green. There is strong evidence for gene:disease association, the query previously for this gene was the phenotype, however The Immunology Specialist Test Group during webex call 28th March 2019 recommended Green rating, the phenotype was relevant to the panel for GMS, and further confirmed in follow up email on 20th June (North West GLH) and 6th September (LNGLH).
The Specialist Test Group all agreed that there is enough evidence to rate this gene Green.; to: Comment on list classification: Changed rating from Red to Green. There is strong evidence for gene:disease association, the query previously for this gene was the phenotype, however The Immunology Specialist Test Group during webex call 28th March 2019 recommended Green rating, the phenotype was relevant to the panel for GMS, and further confirmed in follow up email on 20th June (North West GLH) and 6th September (London North GLH).
The Specialist Test Group all agreed that there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.98 HPS4 Louise Daugherty Classified gene: HPS4 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.98 HPS4 Louise Daugherty Added comment: Comment on list classification: Changed rating from Red to Green. There is strong evidence for gene:disease association, the query previously for this gene was the phenotype, however The Immunology Specialist Test Group during webex call 28th March 2019 recommended Green rating, the phenotype was relevant to the panel for GMS, and further confirmed in follow up email on 20th June (North West GLH) and 6th September (LNGLH).
The Specialist Test Group all agreed that there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.98 HPS4 Louise Daugherty Gene: hps4 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v1.97 HPS4 Louise Daugherty edited their review of gene: HPS4: Changed rating: AMBER
Primary immunodeficiency or monogenic inflammatory bowel disease v1.97 HPS4 Louise Daugherty Phenotypes for gene: HPS4 were changed from Hermansky-Pudlak syndrome 4 to Hermansky-Pudlak syndrome 4, 614073
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 HPS4 Louise Daugherty commented on gene: HPS4: 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 HPS4 Louise Daugherty edited their review of gene: HPS4: 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 HPS4 Kimberly Gilmour reviewed gene: HPS4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 HPS4 Tracy Briggs reviewed gene: HPS4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 HPS4 Louise Daugherty Source NHS GMS was added to HPS4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 HPS4 Louise Daugherty Source North West GLH was added to HPS4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 HPS4 Louise Daugherty Source London North GLH was added to HPS4.
Primary immunodeficiency or monogenic inflammatory bowel disease HPS4 Louise Daugherty marked gene: HPS4 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease HPS4 Sophie Hambleton reviewed gene: HPS4
Primary immunodeficiency or monogenic inflammatory bowel disease HPS4 Louise Daugherty classified HPS4 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease HPS4 Louise Daugherty edited their review of gene: HPS4
Primary immunodeficiency or monogenic inflammatory bowel disease HPS4 Louise Daugherty reviewed HPS4
Primary immunodeficiency or monogenic inflammatory bowel disease HPS4 Louise Daugherty Added gene to panel