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Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 | ERCC2 | Louise Daugherty commented on gene: ERCC2: Trichothiodystrophy / XP: DNA repair - short, microcephaly, delay, ectodermal features and recurrent infections - green association, probably a relevant phenotype?) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 | ERCC2 |
Louise Daugherty Source North West GLH was added to ERCC2. Source NHS GMS was added to ERCC2. Source London North GLH was added to ERCC2. |
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Primary immunodeficiency or monogenic inflammatory bowel disease v1.128 | ERCC2 |
Louise Daugherty Source Expert Review Red was added to ERCC2. Source Victorian Clinical Genetics Services was added to ERCC2. |
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Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 | ERCC2 |
Louise Daugherty changed review comment from: 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; to: 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 Genes with discrepant ratings (PID 100K vs sumbmitted LNGLH submitted Immunology lists)--agreed rating in webex call 28 March 2019 |
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Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 | ERCC2 | Louise Daugherty commented on gene: ERCC2: 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 | ERCC2 | Louise Daugherty commented on gene: ERCC2: 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 v1.112 | ERCC2 | Ellen McDonagh Publications for gene: ERCC2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.109 | ERCC2 | Louise Daugherty Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.109 | ERCC2 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.109 | ERCC2 |
Louise Daugherty gene: ERCC2 was added gene: ERCC2 was added to Primary immunodeficiency. Sources: Other Mode of inheritance for gene: ERCC2 was set to Unknown Phenotypes for gene: ERCC2 were set to Combined immunodeficiency (CID) in a child affected by trichothiodystrophy (TTD); CD4 + lymphopenia Review for gene: ERCC2 was set to RED Added comment: Sources: Other |
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Primary immunodeficiency or monogenic inflammatory bowel disease v1.108 | Louise Daugherty removed gene:ERCC2 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.77 | ERCC2 | Louise Daugherty reviewed gene: ERCC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.72 | ERCC2 | Louise Daugherty Publications for gene: ERCC2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.71 | ERCC2 | Louise Daugherty Phenotypes for gene: ERCC2 were changed from to Combined immunodeficiency (CID) in a child affected by trichothiodystrophy (TTD); CD4 + lymphopenia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.67 | ERCC2 | Louise Daugherty Source London North GLH was added to ERCC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.66 | ERCC2 | Louise Daugherty Source NHS GMS was added to ERCC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.65 | ERCC2 |
Louise Daugherty gene: ERCC2 was added gene: ERCC2 was added to Primary immunodeficiency. Sources: North West GLH Mode of inheritance for gene: ERCC2 was set to |
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Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 | AP1S3 | Louise Daugherty ERCC2 was changed to AP1S3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 | ERCC2 | Louise Daugherty Source North West GLH was added to ERCC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ERCC2 | Louise Daugherty marked gene: ERCC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ERCC2 | Louise Daugherty classified ERCC2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ERCC2 | Louise Daugherty commented on gene: ERCC2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ERCC2 | Sophie Hambleton reviewed gene: ERCC2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ERCC2 | Louise Daugherty classified ERCC2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | ERCC2 | Louise Daugherty Added gene to panel |