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| Paraganglioma_phaeochromocytoma v0.32 | SLC25A11 | Zornitza Stark Marked gene: SLC25A11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paraganglioma_phaeochromocytoma v0.32 | SLC25A11 | Zornitza Stark Gene: slc25a11 has been classified as Red List (Low 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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