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| Multiple monogenic benign skin tumours v2.2 | PRDM10 |
Achchuthan Shanmugasundram gene: PRDM10 was added gene: PRDM10 was added to Multiple monogenic benign skin tumours. 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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| Multiple monogenic benign skin tumours v1.7 | FLCN | Ivone Leong Phenotypes for gene: FLCN were changed from Birt-Hogg-Dub syndrome to Birt-Hogg-Dub syndrome, OMIM:135150 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple monogenic benign skin tumours v0.7 | FLCN | Rebecca Foulger commented on gene: FLCN: In addition to being on the original list (25.Jan.2019), this gene was part of a revised gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 18.Feb.2019 on behalf of the GMS Skin Specialist Test Group. The revised list more accurately matches Clinical Indication R230. Gene Symbol submitted: FLCN; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple monogenic benign skin tumours v0.5 | FLCN | Rebecca Foulger Source London North GLH was added to FLCN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple monogenic benign skin tumours v0.4 | FLCN | Rebecca Foulger reviewed gene: FLCN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple monogenic benign skin tumours v0.3 | FLCN |
Rebecca Foulger gene: FLCN was added gene: FLCN was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FLCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FLCN were set to Birt-Hogg-Dub syndrome |
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