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Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 ERCC3 Louise Daugherty commented on gene: ERCC3: Trichothiodystrophy / XP: DNA repair - short, microcephaly, delay, ectodermal features with photosensitivity. Omim 2 sibs in a consang family Jan 17 - amber association, relevant phenotype?)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.128 ERCC3 Louise Daugherty Source Expert Review Red was added to ERCC3.
Source Victorian Clinical Genetics Services was added to ERCC3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 ERCC3 Louise Daugherty commented on gene: ERCC3: 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 Red
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 ERCC3 Louise Daugherty commented on gene: ERCC3: 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 Red
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 ERCC3 Louise Daugherty commented on gene: ERCC3: Genes with discrepant ratings (PID 100K vs sumbmitted LNGLH submitted Immunology lists)--agreed rating in webex call 28 March 2019
Primary immunodeficiency or monogenic inflammatory bowel disease v1.109 ERCC3 Louise Daugherty Deleted their review
Primary immunodeficiency or monogenic inflammatory bowel disease v1.77 ERCC3 Louise Daugherty reviewed gene: ERCC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.77 ERCC3 Louise Daugherty Phenotypes for gene: ERCC3 were changed from MASP2 deficiency 613791; Mannan-binding lectin serine protease (MASP) deficiency; Pyogenic infections, inflammatory lung disease, autoimmunity; Complement Deficiencies to none
Primary immunodeficiency or monogenic inflammatory bowel disease v1.76 ERCC3 Louise Daugherty Publications for gene: ERCC3 were set to 24658431
Primary immunodeficiency or monogenic inflammatory bowel disease v1.75 ERCC3 Louise Daugherty Publications for gene: ERCC3 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.74 ERCC3 Louise Daugherty Phenotypes for gene: ERCC3 were changed from to MASP2 deficiency 613791; Mannan-binding lectin serine protease (MASP) deficiency; Pyogenic infections, inflammatory lung disease, autoimmunity; Complement Deficiencies
Primary immunodeficiency or monogenic inflammatory bowel disease v1.73 ERCC3 Louise Daugherty Mode of inheritance for gene: ERCC3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v1.67 ERCC3 Louise Daugherty Source London North GLH was added to ERCC3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.66 ERCC3 Louise Daugherty Source NHS GMS was added to ERCC3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.65 ERCC3 Louise Daugherty gene: ERCC3 was added
gene: ERCC3 was added to Primary immunodeficiency. Sources: North West GLH
Mode of inheritance for gene: ERCC3 was set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 CFHR5 Louise Daugherty ERCC3 was changed to CFHR5
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 ERCC3 Louise Daugherty Source North West GLH was added to ERCC3.
Primary immunodeficiency or monogenic inflammatory bowel disease ERCC3 Louise Daugherty marked gene: ERCC3 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease ERCC3 Louise Daugherty classified ERCC3 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease ERCC3 Sophie Hambleton reviewed gene: ERCC3
Primary immunodeficiency or monogenic inflammatory bowel disease ERCC3 Louise Daugherty classified ERCC3 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease ERCC3 Louise Daugherty Added gene to panel