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| Inherited renal cancer v1.24 | PRDM10 |
Achchuthan Shanmugasundram gene: PRDM10 was added gene: PRDM10 was added to Inherited renal cancer. Sources: Literature Mode of inheritance for gene: PRDM10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRDM10 were set to 36440963 Phenotypes for gene: PRDM10 were set to Fibrofolliculoma, HP:0030436; lipomatosis, MONDO:0006574; renal cell carcinoma, MONDO:0005086 Review for gene: PRDM10 was set to RED Added comment: Comment on gene rating: This gene should be rated RED as it has only been identified with a variant in this gene from one family. PMID:36440963 reported a family presenting with skin and mucosal lesions, extensive lipomatosis and renal cell carcinomas. The proband was initially diagnosed with Birt-Hogg-Dubé syndrome (BHD, MIM #135150) based on the presence of fibrofolliculomas, but no pathogenic germline variant was detected in FLCN, the gene associated with BHD. A heterozygous missense variant (p.Cys677Tyr) was identified, which co-segregated with the phenotype in the family. Functional studies show that Cys677Tyr loses affinity for a regulatory binding motif in the FLCN promoter, abrogating cellular FLCN mRNA and protein levels. Overexpressing inducible PRDM10Cys677Tyr in renal epithelial cells altered the transcription of multiple genes, showing overlap but also differences with the effects of knocking out FLCN. This gene has not yet been associated with phenotypes either in OMIM or in Gene2Phenotype. Sources: Literature |
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| Inherited renal cancer v1.8 | FLCN | Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Colorectal cancer, somatic (MIM# 114500); Pneumothorax, primary spontaneous (MIM# 173600); Renal carcinoma, chromophobe, somatic (MIM# 144700) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v1.8 | FLCN | Arina Puzriakova Phenotypes for gene: FLCN were changed from Renal carcinoma; Parotid oncocytomas; Neural tissue tumors; Lipomas; Angiolipomas to Birt-Hogg-Dube syndrome, OMIM:135150; Renal carcinoma, MONDO:0005206 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v0.42 | FLCN | Rebecca Foulger Publications for gene: FLCN were set to PMID: 27899189 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v0.38 | FLCN | Ivone Leong commented on gene: FLCN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v0.5 | FLCN | Ivone Leong Classified gene: FLCN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v0.5 | FLCN | Ivone Leong Gene: flcn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v0.3 | FLCN | Lara Hawkes reviewed gene: FLCN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited renal cancer v0.2 | FLCN |
Ivone Leong Source Expert List was added to FLCN. Rating Changed from No List (delete) to Red List (low evidence) |
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| Inherited renal cancer v0.1 | FLCN |
Rachel Robinson gene: FLCN was added gene: FLCN was added to Inherited renal cancer. Sources: UKGTN Mode of inheritance for gene: FLCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FLCN were set to PMID: 27899189 Phenotypes for gene: FLCN were set to Renal carcinoma; Parotid oncocytomas; Neural tissue tumors; Lipomas; Angiolipomas Penetrance for gene: FLCN were set to Complete Review for gene: FLCN was set to GREEN gene: FLCN was marked as current diagnostic Added comment: Sources: UKGTN |
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