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| Inherited renal cancer v1.7 | FH | Arina Puzriakova Added comment: Comment on phenotypes: Biallelic variants in this gene are associated with Fumarase deficiency (MIM# 606812) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v1.7 | FH | Arina Puzriakova Phenotypes for gene: FH were changed from Uterine leiomyosarcoma (less common); Cutaneous leiomyosarcoma (less common); Renal cell carcinoma, solitary papillary type 2 (about 20% of patients) to Leiomyomatosis and renal cell cancer, OMIM:150800; Hereditary leiomyomatosis and renal cell cancer, MONDO:0007888 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v0.38 | FH | Ivone Leong commented on gene: FH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v0.21 | FH | Ivone Leong Publications for gene: FH were set to PMID: 27899189 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v0.4 | FH | Ivone Leong Classified gene: FH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v0.4 | FH | Ivone Leong Gene: fh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v0.3 | FH | Lara Hawkes reviewed gene: FH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v0.2 | FH |
Ivone Leong Source Expert List was added to FH. Rating Changed from No List (delete) to Red List (low evidence) |
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| Inherited renal cancer v0.1 | FH |
Rachel Robinson gene: FH was added gene: FH was added to Inherited renal cancer. Sources: UKGTN Mode of inheritance for gene: FH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FH were set to PMID: 27899189 Phenotypes for gene: FH were set to Uterine leiomyosarcoma (less common); Cutaneous leiomyosarcoma (less common); Renal cell carcinoma, solitary papillary type 2 (about 20% of patients) Penetrance for gene: FH were set to Incomplete Review for gene: FH was set to GREEN Added comment: Mean age of diagnosis of renal cell carcinoma is 46 years. Recessive pathogenic variants in fumarase deficiency. Sources: UKGTN |
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