Activity
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7 actions
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| Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.23 | EPAS1 |
Ivone Leong Tag Q2_21_rating was removed from gene: EPAS1. Tag Q2_21_phenotype was removed from gene: EPAS1. Tag Q2_21_NHS_review was removed from gene: EPAS1. |
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| Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.23 | EPAS1 | Ivone Leong commented on gene: EPAS1: Submitted on behalf of NHS GMS "No - Think the EPAS1 mutations associated with PCC are generally somatic not germline. https://pubmed.ncbi.nlm.nih.gov/33300499/ describes some germline variants but describes them as hypomorphic so not sure its ready to be elevated amber gene" | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.23 | EPAS1 | Ivone Leong commented on gene: EPAS1: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.15 | EPAS1 |
Ivone Leong Tag Q2_21_rating tag was added to gene: EPAS1. Tag Q2_21_NHS_review tag was added to gene: EPAS1. |
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| Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.15 | EPAS1 | Ivone Leong Classified gene: EPAS1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.15 | EPAS1 | Ivone Leong Gene: epas1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.14 | EPAS1 |
Ivone Leong gene: EPAS1 was added gene: EPAS1 was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert list Q2_21_phenotype tags were added to gene: EPAS1. Mode of inheritance for gene: EPAS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EPAS1 were set to 22931260; 23418310; 33300499 Phenotypes for gene: EPAS1 were set to Erythrocytosis, familial, 4, OMIM:611783 Review for gene: EPAS1 was set to AMBER Added comment: This gene was suggested to be added and given a Green rating by Ruth Casey (Cambridge University Hospital). No other evidence was provided. This gene is associated with a phenotype in OMIM. It has been reported as somatic gain of function variants in patients who present with PPGL and sporadic tumours (PMID: 22931260, 23418310). PMID: 33300499 looked at EPAS1 germline variants in patients who has PPGL. Half of them have germline variants in EPAS1 and a known PPGL gene, other half has just EPAS1 variants. There are no details about whether these people had a family history of PPGL. Sources: Expert list |
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