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Primary immunodeficiency or monogenic inflammatory bowel disease v2.536 GUCY2C Arina Puzriakova reviewed gene: GUCY2C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.535 GUCY2C Arina Puzriakova Source Expert Review Green was added to GUCY2C.
Mode of inheritance for gene GUCY2C was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Diarrhea 6, OMIM:614616 for gene: GUCY2C
Publications for gene: GUCY2C were updated from to 22436048; 31157858
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 GUCY2C Louise Daugherty commented on gene: GUCY2C: AD: diarrhoea 6, relatively mild with potential IBD association one family ?GOF, vs AR: meconium ileus, one family. ?Phenotypic relevance and also amber on association
Primary immunodeficiency or monogenic inflammatory bowel disease v1.119 GUCY2C Louise Daugherty Classified gene: GUCY2C as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.119 GUCY2C Louise Daugherty Added comment: Comment on list classification: Changed rating from Red to Amber to reflect the agreed rating agreed by the GMS Immunology Specialist Test Group
Primary immunodeficiency or monogenic inflammatory bowel disease v1.119 GUCY2C Louise Daugherty Gene: gucy2c has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v1.118 GUCY2C Louise Daugherty Phenotypes for gene: GUCY2C were changed from Diarrhea 6, 614616; meconium ileus to Diarrhea 6, 614616; meconium ileus, 614665
Primary immunodeficiency or monogenic inflammatory bowel disease v1.116 GUCY2C Louise Daugherty commented on gene: GUCY2C: 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 only enough evidence to rate this gene Amber.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.116 GUCY2C Louise Daugherty edited their review of gene: GUCY2C: Added comment: 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 only enough evidence to rate this gene Amber; Changed rating: AMBER
Primary immunodeficiency or monogenic inflammatory bowel disease v1.115 GUCY2C Kimberly Gilmour reviewed gene: GUCY2C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.114 GUCY2C Tracy Briggs reviewed gene: GUCY2C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 GUCY2C Louise Daugherty MBL2 was changed to GUCY2C
Primary immunodeficiency or monogenic inflammatory bowel disease v1.63 GUCY2C Louise Daugherty Source North West GLH was added to GUCY2C.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.62 GUCY2C Louise Daugherty Source London North GLH was added to GUCY2C.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.61 GUCY2C Louise Daugherty Source NHS GMS was added to GUCY2C.
Primary immunodeficiency or monogenic inflammatory bowel disease GUCY2C Louise Daugherty marked gene: GUCY2C as ready
Primary immunodeficiency or monogenic inflammatory bowel disease GUCY2C Sophie Hambleton reviewed gene: GUCY2C
Primary immunodeficiency or monogenic inflammatory bowel disease GUCY2C Louise Daugherty classified GUCY2C as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease GUCY2C Louise Daugherty edited their review of gene: GUCY2C
Primary immunodeficiency or monogenic inflammatory bowel disease GUCY2C Louise Daugherty reviewed GUCY2C
Primary immunodeficiency or monogenic inflammatory bowel disease GUCY2C Louise Daugherty Added gene to panel