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| Paraganglioma_phaeochromocytoma v0.30 | EGLN1 | Zornitza Stark Marked gene: EGLN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paraganglioma_phaeochromocytoma v0.30 | EGLN1 | Zornitza Stark Gene: egln1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paraganglioma_phaeochromocytoma v0.30 | EGLN1 |
Chirag Patel gene: EGLN1 was added gene: EGLN1 was added to Paraganglioma_phaeochromocytoma. Sources: Expert list,Literature,Expert Review Mode of inheritance for gene: EGLN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EGLN1 were set to PMID: 19092153, 36013579 Phenotypes for gene: EGLN1 were set to Paraganglioma, MONDO:0000448; Pheochromocytoma, MONDO:0008233; Pheochromocytoma/paraganglioma, susceptibility to, no MIM#; Erythrocytosis, familial, 3, MIM#609820 Review for gene: EGLN1 was set to RED Added comment: PMID: 19092153 1 patient with erythrocytosis and recurrent paraganglioma with a novel de novo germline EGLN1 gene (PHD2) variant (H374R). There was loss of heterozygosity of PHD2 in the tumour. Wild-type PHD2 caused the dose-related suppression of HIF-α–mediated induction of the reporter gene, whereas the response to the H374R PHD2 mutant was impaired. PMID: 36013579 1 patient with metastatic pheochromocytoma and chronic myeloid leukaemia (CML) without polycythaemia, and a novel germline EGLN1 gene variant (c.153G>A, p.W51*) inherited from unaffected father. The patient had lower expression of PHD2 and higher levels of HIF2α compared to the healthy adrenal tissues, confirming that PHD2 down-regulation results in HIF2α stabilization. Sources: Expert list, Literature, Expert Review |
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