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| Paraganglioma_phaeochromocytoma v0.30 | FH | Zornitza Stark Marked gene: FH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paraganglioma_phaeochromocytoma v0.30 | FH | Zornitza Stark Gene: fh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paraganglioma_phaeochromocytoma v0.26 | SLC25A11 |
Chirag Patel gene: SLC25A11 was added gene: SLC25A11 was added to Paraganglioma_phaeochromocytoma. Sources: Expert list,Expert Review,Literature Mode of inheritance for gene: SLC25A11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC25A11 were set to PMID: 29431636 Phenotypes for gene: SLC25A11 were set to Paragangliomas 6, MONDO:0032767; Pheochromocytoma, MONDO:0008233; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 6, MIM#618464 Review for gene: SLC25A11 was set to RED Added comment: 7 patients with paraganglioma with germline variants in the SLC25A11 gene. The variants were missense, splice site, frameshift, and silent change. The variants were not found in dbSNP or ExAC databases. The missense variants affected highly conserved residues in the signature protein sequence or alpha matrix helix. The variants were associated with loss of heterozygosity, suggesting that SLC25A11 acts as a tumour suppressor gene. Immunohistochemical studies on the tumour tissue showed absence of the SLC25A11 protein and hypermethylation of DNA and histones compared to controls. Pseudohypoxic and hypermethylator phenotypes comparable with those described in SDHx- and FH-related tumours were observed both in tumours with mutated SLC25A11 and in Slc25a11Δ/Δ immortalized mouse chromaffin knockout cells generated by CRISPR-Cas9 technology. Sources: Expert list, Expert Review, Literature |
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| Paraganglioma_phaeochromocytoma v0.24 | FH | Chirag Patel Classified gene: FH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paraganglioma_phaeochromocytoma v0.24 | FH | Chirag Patel Gene: fh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paraganglioma_phaeochromocytoma v0.17 | FH |
Chirag Patel gene: FH was added gene: FH was added to Paraganglioma_phaeochromocytoma. Sources: Expert list,Expert Review Mode of inheritance for gene: FH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FH were set to Paraganglioma, MONDO:0000448; Pheochromocytoma, MONDO:0008233; Hereditary leiomyomatosis and renal cell cancer, MONDO:0007888; Leiomyomatosis and renal cell cancer, MIM#150800 Review for gene: FH was set to GREEN Added comment: ClinGen definitive. Paragangliomas and phaeochromocytomas reported in condition. Sources: Expert list, Expert Review |
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