| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Childhood solid tumours v4.5 | FBXW7 | Arina Puzriakova Classified gene: FBXW7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v4.5 | FBXW7 |
Arina Puzriakova Added comment: Comment on list classification: Rating Amber as at present I do not think there is enough evidence to classify this as a diagnostic-grade cancer gene. There are previous reports of dn/inh germline variants in individuals (likely 7) with tumor predisposition, two had structural alternations that affected other genomic regions and the others were identified from a targeted Wilms cohort. FBXW7 heterozygous variants have also been associated with a neurodevelopmental disorder (OMIM:620012; G2P - moderate) but these individuals not shown malignancy. FBXW7 is not linked to a cancer phenotype in OMIM or G2P. Nonetheless this is a tumour suppressor gene that is worth monitoring for new evidence linking to cancer susceptibility (added watchlist tag). |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v4.5 | FBXW7 | Arina Puzriakova Gene: fbxw7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v4.4 | FBXW7 | Arina Puzriakova Phenotypes for gene: FBXW7 were changed from Developmental delay, hypotonia, and impaired language to Wilms tumor, MONDO:0006058; Rhabdoid tumor, MONDO:0002728 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v4.3 | FBXW7 | Arina Puzriakova Publications for gene: FBXW7 were set to 30885698 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v4.2 | FBXW7 | Arina Puzriakova Tag watchlist tag was added to gene: FBXW7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v4.2 | FBXW7 | Arina Puzriakova reviewed gene: FBXW7: Rating: ; Mode of pathogenicity: None; Publications: 19963109, 20332316, 26482194, 30885698; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v4.2 | FBXW7 |
Dmitrijs Rots gene: FBXW7 was added gene: FBXW7 was added to Childhood solid tumours. Sources: Literature Mode of inheritance for gene: FBXW7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FBXW7 were set to 30885698 Phenotypes for gene: FBXW7 were set to Developmental delay, hypotonia, and impaired language Penetrance for gene: FBXW7 were set to Incomplete Review for gene: FBXW7 was set to GREEN Added comment: In 30885698 five cases with de novo and truncating variants and childhood tumors are reported. Gene is intolerant to truncating variants (pLI=1). Enough evidence for green rating. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||