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Primary immunodeficiency or monogenic inflammatory bowel disease v2.555 SLC37A4 Arina Puzriakova Phenotypes for gene: SLC37A4 were changed from Glycogen storage disease Ic; Glycogen storage disease Ib, 232220; Glycogen storage disease Ib; Glycogen storage disease type 1b (GS1b); Glycogen storage disease with or without neutropenia; Fasting hypoglycemia, lactic acidosis, hyperlipidemia, hepatomegaly; Congenital defects of phagocyte number or function to Glycogen storage disease Ib, OMIM:232220; Glycogen storage disease Ic, OMIM:232240; Fasting hypoglycemia, lactic acidosis, hyperlipidemia, hepatomegaly; Congenital defects of phagocyte number or function
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SLC37A4 Louise Daugherty commented on gene: SLC37A4: 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 SLC37A4 Louise Daugherty commented on gene: SLC37A4: 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 SLC37A4 Kimberly Gilmour reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SLC37A4 Tracy Briggs reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 SLC37A4 Louise Daugherty Source NHS GMS was added to SLC37A4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 SLC37A4 Louise Daugherty Source North West GLH was added to SLC37A4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 SLC37A4 Louise Daugherty Source London North GLH was added to SLC37A4.
Primary immunodeficiency or monogenic inflammatory bowel disease SLC37A4 Louise Daugherty commented on gene: SLC37A4
Primary immunodeficiency or monogenic inflammatory bowel disease SLC37A4 Louise Daugherty marked gene: SLC37A4 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease SLC37A4 Louise Daugherty commented on SLC37A4
Primary immunodeficiency or monogenic inflammatory bowel disease SLC37A4 Louise Daugherty commented on SLC37A4
Primary immunodeficiency or monogenic inflammatory bowel disease SLC37A4 Louise Daugherty reviewed SLC37A4
Primary immunodeficiency or monogenic inflammatory bowel disease SLC37A4 Louise Daugherty Added gene to panel