| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Sarcoma susceptibility v1.73 | FANCC |
Arina Puzriakova Tag Q3_22_rating was removed from gene: FANCC. Tag Q3_22_expert_review was removed from gene: FANCC. |
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| Sarcoma susceptibility v1.73 | FANCC | Arina Puzriakova commented on gene: FANCC: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber. Expert review indicated that there is not sufficient evidence for this gene-disease association at this time. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v1.72 | FANCC | Eleanor Williams commented on gene: FANCC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v1.72 | FANCC | Eleanor Williams Tag Q3_22_rating tag was added to gene: FANCC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v1.72 | FANCC | Arina Puzriakova Tag Q3_22_expert_review tag was added to gene: FANCC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v1.72 | FANCC | Arina Puzriakova Publications for gene: FANCC were set to PMID: 35512711 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v1.71 | FANCC | Arina Puzriakova Classified gene: FANCC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v1.71 | FANCC |
Arina Puzriakova Added comment: Comment on list classification: Rating Amber but will flag this gene for GMS review to determine whether there is enough evidence supporting contribution of germline variants in FANCC to sarcoma pathogenesis. Gillani et al., (2022) reported statistically significant enrichment for predicted pathogenic germline variants in the FANCC gene in a cohort of European Ewing sarcoma patients. However, variants have reduced penetrance and the overall frequency of these variants was low (1.5% in discovery cohort, 0.8% in validation cohort). Chan etl al., (2017) also identified another likely pathogenic frameshift deletion in FANCC in an individual with epitheloid sarcoma |
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| Sarcoma susceptibility v1.71 | FANCC | Arina Puzriakova Gene: fancc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v1.70 | FANCC | Arina Puzriakova Phenotypes for gene: FANCC were changed from Ewing Sarcome to Ewing sarcoma, MONDO:0012817 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v1.69 | FANCC |
Dmitrijs Rots gene: FANCC was added gene: FANCC was added to Sarcoma susceptibility. Sources: Literature Mode of inheritance for gene: FANCC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FANCC were set to PMID: 35512711 Phenotypes for gene: FANCC were set to Ewing Sarcome Penetrance for gene: FANCC were set to unknown Review for gene: FANCC was set to GREEN Added comment: At least 6 individuals in PMID: 35512711 with significant enrichment (OR=12 and 7 in discovery and validation cohorts, respectively) Sources: Literature |
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