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| Cytopenia - NOT Fanconi anaemia v0.66 | NBN | Louise Daugherty changed review comment from: Discrepant reviews for NBN:Rated as Green by WWMGLH, NWGLH - Amber rating by YNEGLH, LSGLH. To be discussed at July workshop to agree rating.; to: Discrepant reviews for NBN:Rated as Green by WWMGLH, NWGLH - Amber rating by YNEGLH, LSGLH. To be discussed at July workshop to agree rating. As noted by LSGLH -not sure if this should be in Cytopenia panel – would this not be picked up on chromosome breakage? Then better to go for the single gene test R259. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.66 | NBN | Louise Daugherty Classified gene: NBN as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.66 | NBN | Louise Daugherty Added comment: Comment on list classification: Downgraded from Green to Amber. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene Amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.66 | NBN | Louise Daugherty Gene: nbn has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.65 | NBN | Louise Daugherty commented on gene: NBN: Discrepant reviews for NBN:Rated as Green by WWMGLH, NWGLH - Amber rating by YNEGLH, LSGLH. To be discussed at July workshop to agree rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.18 | NBN | Louise Daugherty commented on gene: NBN: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NBN; Suggested initial gene rating: not submitted ; Are variants in this gene part of your current diagnostic practice? info not submitted; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 251260 Nijmegen breakage syndrome; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.17 | NBN | Mandy nesbitt reviewed gene: NBN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 251260 Nijmegen breakage syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.16 | NBN | Louise Daugherty Added phenotypes 251260 Nijmegen breakage syndrome for gene: NBN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.14 | NBN | Louise Daugherty Source Yorkshire and North East GLH was added to NBN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.6 | NBN | Louise Daugherty reviewed gene: NBN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.5 | NBN | Carl Fratter reviewed gene: NBN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.4 | NBN | Louise Daugherty Source NHS GMS was added to NBN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.3 | NBN |
Louise Daugherty Source Expert Review Green was added to NBN. Mode of inheritance for gene NBN was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Aplastic anemia, 609135; Leukemia, acute lymphoblastic, 613065; Nijmegen breakage syndrome, 251260 for gene: NBN Publications for gene NBN were changed from to 15338273; 11325820 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Cytopenia - NOT Fanconi anaemia v0.2 | NBN |
Louise Daugherty gene: NBN was added gene: NBN was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: NBN was set to |
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