{"count":221415,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=386","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=384","results":[{"created":"2024-09-19T09:07:00.195282+10:00","panel_name":"Prostate Cancer","panel_id":4372,"panel_version":"0.24","user_name":"Chirag Patel","item_type":"entity","text":"Gene: hoxb13 has been classified as Green List (High Evidence).","entity_name":"HOXB13","entity_type":"gene"},{"created":"2024-09-19T09:06:50.334559+10:00","panel_name":"Prostate Cancer","panel_id":4372,"panel_version":"0.23","user_name":"Chirag Patel","item_type":"entity","text":"gene: HOXB13 was added\ngene: HOXB13 was added to Prostate Cancer. Sources: Expert list,Expert Review,Literature\nMode of inheritance for gene: HOXB13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HOXB13 were set to PMID: 22236224, 30730552, 38766261\nPhenotypes for gene: HOXB13 were set to Prostate cancer, MONDO:0008315; Prostate cancer, susceptibility to, MIM#610997\nReview for gene: HOXB13 was set to GREEN\nAdded comment: Established gene-disease association (particularly G84E variant). \r\n\r\nSeveral studies demonstrating the association of the HOXB13 G84E variant with prostate cancer, including a European study that showed an increased frequency of the HOXB13 G84E variant in patients with prostate cancer at 1.4% compared to those without prostate cancer at 0.1%. \nSources: Expert list, Expert Review, Literature","entity_name":"HOXB13","entity_type":"gene"},{"created":"2024-09-19T09:04:31.916880+10:00","panel_name":"Prostate Cancer","panel_id":4372,"panel_version":"0.22","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: CHEK2 as Green List (high evidence)","entity_name":"CHEK2","entity_type":"gene"},{"created":"2024-09-19T09:04:31.906615+10:00","panel_name":"Prostate Cancer","panel_id":4372,"panel_version":"0.22","user_name":"Chirag Patel","item_type":"entity","text":"Gene: chek2 has been classified as Green List (High Evidence).","entity_name":"CHEK2","entity_type":"gene"},{"created":"2024-09-19T09:04:27.861056+10:00","panel_name":"Prostate Cancer","panel_id":4372,"panel_version":"0.21","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: TP53 as Green List (high evidence)","entity_name":"TP53","entity_type":"gene"},{"created":"2024-09-19T09:04:27.841913+10:00","panel_name":"Prostate Cancer","panel_id":4372,"panel_version":"0.21","user_name":"Chirag Patel","item_type":"entity","text":"Gene: tp53 has been classified as Green List (High Evidence).","entity_name":"TP53","entity_type":"gene"},{"created":"2024-09-19T09:04:21.823891+10:00","panel_name":"Prostate Cancer","panel_id":4372,"panel_version":"0.20","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: PALB2 as Green List (high evidence)","entity_name":"PALB2","entity_type":"gene"},{"created":"2024-09-19T09:04:21.814093+10:00","panel_name":"Prostate Cancer","panel_id":4372,"panel_version":"0.20","user_name":"Chirag Patel","item_type":"entity","text":"Gene: palb2 has been classified as Green List (High Evidence).","entity_name":"PALB2","entity_type":"gene"},{"created":"2024-09-19T09:04:17.614697+10:00","panel_name":"Prostate Cancer","panel_id":4372,"panel_version":"0.19","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: EPCAM as Green List (high evidence)","entity_name":"EPCAM","entity_type":"gene"},{"created":"2024-09-19T09:04:17.597076+10:00","panel_name":"Prostate Cancer","panel_id":4372,"panel_version":"0.19","user_name":"Chirag Patel","item_type":"entity","text":"Gene: epcam has been classified as Green List (High Evidence).","entity_name":"EPCAM","entity_type":"gene"},{"created":"2024-09-19T09:04:11.827777+10:00","panel_name":"Prostate Cancer","panel_id":4372,"panel_version":"0.18","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: BRCA2 as Green List (high evidence)","entity_name":"BRCA2","entity_type":"gene"},{"created":"2024-09-19T09:04:11.811745+10:00","panel_name":"Prostate Cancer","panel_id":4372,"panel_version":"0.18","user_name":"Chirag Patel","item_type":"entity","text":"Gene: brca2 has been classified as Green List (High Evidence).","entity_name":"BRCA2","entity_type":"gene"},{"created":"2024-09-19T09:04:06.490428+10:00","panel_name":"Prostate Cancer","panel_id":4372,"panel_version":"0.17","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: BRCA1 as Green List (high evidence)","entity_name":"BRCA1","entity_type":"gene"},{"created":"2024-09-19T09:04:06.475217+10:00","panel_name":"Prostate Cancer","panel_id":4372,"panel_version":"0.17","user_name":"Chirag Patel","item_type":"entity","text":"Gene: brca1 has been classified as Green List (High Evidence).","entity_name":"BRCA1","entity_type":"gene"},{"created":"2024-09-19T09:04:02.372364+10:00","panel_name":"Prostate Cancer","panel_id":4372,"panel_version":"0.16","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ATM as Green List (high evidence)","entity_name":"ATM","entity_type":"gene"},{"created":"2024-09-19T09:04:02.330665+10:00","panel_name":"Prostate Cancer","panel_id":4372,"panel_version":"0.16","user_name":"Chirag Patel","item_type":"entity","text":"Gene: atm has been classified as Green List (High Evidence).","entity_name":"ATM","entity_type":"gene"},{"created":"2024-09-19T09:03:51.221670+10:00","panel_name":"Prostate Cancer","panel_id":4372,"panel_version":"0.15","user_name":"Chirag Patel","item_type":"entity","text":"gene: CHEK2 was added\ngene: CHEK2 was added to Prostate Cancer. Sources: Expert list,Expert Review,Literature\nMode of inheritance for gene: CHEK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CHEK2 were set to PMID: 33322746, 36529447\nPhenotypes for gene: CHEK2 were set to Prostate cancer, MONDO:0008315; CHEK2-related cancer predisposition, MONDO:0700271; Breast/prostate cancer, susceptibility to, MIM#609265\nReview for gene: CHEK2 was set to GREEN\nAdded comment: Established gene-disease association. Prostate cancers reported in condition. \r\n\r\nConsider possibility that an identified variant could represent ACE (aberrant clonal expansion), which can be due to clonal haematopoiesis of indeterminate potential (CHIP) or an occult hematologic malignancy, especially in older patients who have undergone prior chemotherapy (PMID: 36040522). \nSources: Expert list, Expert Review, Literature","entity_name":"CHEK2","entity_type":"gene"},{"created":"2024-09-19T09:02:05.941324+10:00","panel_name":"Prostate Cancer","panel_id":4372,"panel_version":"0.14","user_name":"Chirag Patel","item_type":"entity","text":"gene: TP53 was added\ngene: TP53 was added to Prostate Cancer. Sources: Expert list,Expert Review\nMode of inheritance for gene: TP53 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TP53 were set to Prostate cancer, MONDO:0008315; Li-Fraumeni syndrome, MONDO:0018875; Li-Fraumeni syndrome, MIM#151623\nReview for gene: TP53 was set to GREEN\nAdded comment: ClinGen definitive. Prostate cancers reported in condition. \r\n\r\nConsider possibility that an identified variant could represent ACE (aberrant clonal expansion), which can be due to clonal haematopoiesis of indeterminate potential (CHIP) or an occult hematologic malignancy, especially in older patients who have undergone prior chemotherapy (PMID: 36040522). \nSources: Expert list, Expert Review","entity_name":"TP53","entity_type":"gene"},{"created":"2024-09-19T09:01:46.114615+10:00","panel_name":"Prostate Cancer","panel_id":4372,"panel_version":"0.13","user_name":"Chirag Patel","item_type":"entity","text":"gene: PALB2 was added\ngene: PALB2 was added to Prostate Cancer. Sources: Expert list,Expert Review\nMode of inheritance for gene: PALB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PALB2 were set to Prostate cancer, MONDO:0008315; PALB2-related cancer predisposition, MONDO:0700272; Breast-ovarian cancer, familial, susceptibility to, 5, MIM#620442; Pancreatic cancer, susceptibility to, 3, MIM#613348\nReview for gene: PALB2 was set to GREEN\nAdded comment: ClinGen definitive. Prostate cancers reported in condition. \nSources: Expert list, Expert Review","entity_name":"PALB2","entity_type":"gene"},{"created":"2024-09-19T09:01:18.218973+10:00","panel_name":"Prostate Cancer","panel_id":4372,"panel_version":"0.12","user_name":"Chirag Patel","item_type":"entity","text":"gene: EPCAM was added\ngene: EPCAM was added to Prostate Cancer. Sources: Expert list,Expert Review\nMode of inheritance for gene: EPCAM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: EPCAM were set to Prostate cancer, MONDO:0008315; Lynch syndrome 8, MONDO:0013196; Lynch syndrome 8, MIM#613244\nReview for gene: EPCAM was set to GREEN\nAdded comment: ClinGen definitive. Prostate cancers reported in condition. \r\n\r\nDeletion of 3’end of EPCAM gene leading to epigenetic silencing of adjacent downstream MSH2 gene. \nSources: Expert list, Expert Review","entity_name":"EPCAM","entity_type":"gene"},{"created":"2024-09-19T09:00:48.919612+10:00","panel_name":"Prostate Cancer","panel_id":4372,"panel_version":"0.11","user_name":"Chirag Patel","item_type":"entity","text":"gene: BRCA2 was added\ngene: BRCA2 was added to Prostate Cancer. Sources: Expert list,Expert Review\nMode of inheritance for gene: BRCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: BRCA2 were set to Prostate cancer, MONDO:0008315; BRCA2-related cancer predisposition, MONDO:0700269; Breast-ovarian cancer, familial, 2, MIM#612555\nReview for gene: BRCA2 was set to GREEN\nAdded comment: ClinGen definitive. Prostate cancers reported in condition. \nSources: Expert list, Expert Review","entity_name":"BRCA2","entity_type":"gene"},{"created":"2024-09-19T09:00:36.589761+10:00","panel_name":"Prostate Cancer","panel_id":4372,"panel_version":"0.10","user_name":"Chirag Patel","item_type":"entity","text":"gene: BRCA1 was added\ngene: BRCA1 was added to Prostate Cancer. Sources: Expert list,Expert Review\nMode of inheritance for gene: BRCA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: BRCA1 were set to Prostate cancer, MONDO:0008315; BRCA1-related cancer predisposition, MONDO:0700268; Breast-ovarian cancer, familial, 1, MIM#604370\nReview for gene: BRCA1 was set to GREEN\nAdded comment: ClinGen definitive. Prostate cancers reported in condition. \nSources: Expert list, Expert Review","entity_name":"BRCA1","entity_type":"gene"},{"created":"2024-09-19T09:00:19.152313+10:00","panel_name":"Prostate Cancer","panel_id":4372,"panel_version":"0.9","user_name":"Chirag Patel","item_type":"entity","text":"gene: ATM was added\ngene: ATM was added to Prostate Cancer. Sources: Expert list,Expert Review\nMode of inheritance for gene: ATM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ATM were set to Prostate cancer, MONDO:0008315; ATM-related cancer predisposition, MONDO:0700270; Breast cancer, susceptibility to, MIM#114480\nReview for gene: ATM was set to GREEN\nAdded comment: ClinGen definitive. Prostate cancers reported in condition. \r\n\r\nConsider possibility that an identified variant could represent ACE (aberrant clonal expansion), which can be due to clonal haematopoiesis of indeterminate potential (CHIP) or an occult hematologic malignancy, especially in older patients who have undergone prior chemotherapy (PMID: 36040522). \nSources: Expert list, Expert Review","entity_name":"ATM","entity_type":"gene"},{"created":"2024-09-19T08:58:23.499454+10:00","panel_name":"Prostate Cancer","panel_id":4372,"panel_version":"0.8","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: MLH1 as Green List (high evidence)","entity_name":"MLH1","entity_type":"gene"},{"created":"2024-09-19T08:58:23.467792+10:00","panel_name":"Prostate Cancer","panel_id":4372,"panel_version":"0.8","user_name":"Chirag Patel","item_type":"entity","text":"Gene: mlh1 has been classified as Green List (High Evidence).","entity_name":"MLH1","entity_type":"gene"},{"created":"2024-09-19T08:58:19.271148+10:00","panel_name":"Prostate Cancer","panel_id":4372,"panel_version":"0.7","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: MSH2 as Green List (high evidence)","entity_name":"MSH2","entity_type":"gene"},{"created":"2024-09-19T08:58:19.247998+10:00","panel_name":"Prostate Cancer","panel_id":4372,"panel_version":"0.7","user_name":"Chirag Patel","item_type":"entity","text":"Gene: msh2 has been classified as Green List (High Evidence).","entity_name":"MSH2","entity_type":"gene"},{"created":"2024-09-19T08:58:14.715183+10:00","panel_name":"Prostate Cancer","panel_id":4372,"panel_version":"0.6","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: MSH6 as Green List (high evidence)","entity_name":"MSH6","entity_type":"gene"},{"created":"2024-09-19T08:58:14.689547+10:00","panel_name":"Prostate Cancer","panel_id":4372,"panel_version":"0.6","user_name":"Chirag Patel","item_type":"entity","text":"Gene: msh6 has been classified as Green List (High Evidence).","entity_name":"MSH6","entity_type":"gene"},{"created":"2024-09-19T08:58:10.736322+10:00","panel_name":"Prostate Cancer","panel_id":4372,"panel_version":"0.5","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: PMS2 as Green List (high evidence)","entity_name":"PMS2","entity_type":"gene"},{"created":"2024-09-19T08:58:10.715667+10:00","panel_name":"Prostate Cancer","panel_id":4372,"panel_version":"0.5","user_name":"Chirag Patel","item_type":"entity","text":"Gene: pms2 has been classified as Green List (High Evidence).","entity_name":"PMS2","entity_type":"gene"},{"created":"2024-09-19T08:58:03.662616+10:00","panel_name":"Prostate Cancer","panel_id":4372,"panel_version":"0.4","user_name":"Chirag Patel","item_type":"entity","text":"gene: PMS2 was added\ngene: PMS2 was added to Prostate Cancer. Sources: Expert list,Expert Review\nMode of inheritance for gene: PMS2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPhenotypes for gene: PMS2 were set to Prostate cancer, MONDO:0008315; Lynch syndrome 4, MONDO:0013699; Mismatch repair cancer syndrome 4, MONDO:0030843; Lynch syndrome 4, MIM#614337; Mismatch repair cancer syndrome 4, MIM#619101\nReview for gene: PMS2 was set to GREEN\nAdded comment: ClinGen definitive. Prostate cancers reported in condition.\r\n\r\nNote: there is a high level of homology between PMS2 and pseudogenes. \nSources: Expert list, Expert Review","entity_name":"PMS2","entity_type":"gene"},{"created":"2024-09-19T08:57:38.402578+10:00","panel_name":"Prostate Cancer","panel_id":4372,"panel_version":"0.3","user_name":"Chirag Patel","item_type":"entity","text":"gene: MSH6 was added\ngene: MSH6 was added to Prostate Cancer. Sources: Expert list,Expert Review\nMode of inheritance for gene: MSH6 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPhenotypes for gene: MSH6 were set to Prostate cancer, MONDO:0008315; Lynch syndrome 5, MONDO:0013710; Mismatch repair cancer syndrome 3, MONDO:0030841; Lynch syndrome 5, MIM#614350; Mismatch repair cancer syndrome 3, MIM#619097\nReview for gene: MSH6 was set to GREEN\nAdded comment: ClinGen definitive. Prostate cancers reported in condition. \nSources: Expert list, Expert Review","entity_name":"MSH6","entity_type":"gene"},{"created":"2024-09-19T08:57:28.417914+10:00","panel_name":"Prostate Cancer","panel_id":4372,"panel_version":"0.2","user_name":"Chirag Patel","item_type":"entity","text":"gene: MSH2 was added\ngene: MSH2 was added to Prostate Cancer. Sources: Expert list,Expert Review\nMode of inheritance for gene: MSH2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPhenotypes for gene: MSH2 were set to Prostate cancer, MONDO:0008315; Lynch syndrome 1, MONDO:0007356; Mismatch repair cancer syndrome 2, MONDO:0030840; Lynch syndrome 1, MIM#120435; Mismatch repair cancer syndrome 2, MIM#619096\nReview for gene: MSH2 was set to GREEN\nAdded comment: ClinGen definitive. Prostate cancers reported in condition. \nSources: Expert list, Expert Review","entity_name":"MSH2","entity_type":"gene"},{"created":"2024-09-19T08:57:15.602227+10:00","panel_name":"Prostate Cancer","panel_id":4372,"panel_version":"0.1","user_name":"Chirag Patel","item_type":"entity","text":"gene: MLH1 was added\ngene: MLH1 was added to Prostate Cancer. Sources: Expert list,Expert Review\nMode of inheritance for gene: MLH1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPhenotypes for gene: MLH1 were set to Prostate cancer, MONDO:0008315; Lynch syndrome 2, MONDO:0012249; Mismatch repair cancer syndrome 1, MONDO:0010159; Lynch syndrome 2, MIM#609310; Mismatch repair cancer syndrome 1, MIM#276300\nReview for gene: MLH1 was set to GREEN\nAdded comment: ClinGen definitive. Prostate cancers reported in condition. \nSources: Expert list, Expert Review","entity_name":"MLH1","entity_type":"gene"},{"created":"2024-09-19T08:20:02.445218+10:00","panel_name":"Paraganglioma_phaeochromocytoma","panel_id":4365,"panel_version":"0.30","user_name":"Chirag Patel","item_type":"entity","text":"gene: EGLN1 was added\ngene: EGLN1 was added to Paraganglioma_phaeochromocytoma. Sources: Expert list,Literature,Expert Review\nMode of inheritance for gene: EGLN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EGLN1 were set to PMID: 19092153, 36013579\nPhenotypes for gene: EGLN1 were set to Paraganglioma, MONDO:0000448; Pheochromocytoma, MONDO:0008233; Pheochromocytoma/paraganglioma, susceptibility to, no MIM#; Erythrocytosis, familial, 3, MIM#609820\nReview for gene: EGLN1 was set to RED\nAdded comment: PMID: 19092153\r\n1 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. \r\n\r\nPMID: 36013579\r\n1 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. \nSources: Expert list, Literature, Expert Review","entity_name":"EGLN1","entity_type":"gene"},{"created":"2024-09-19T08:06:58.336316+10:00","panel_name":"Paraganglioma_phaeochromocytoma","panel_id":4365,"panel_version":"0.29","user_name":"Chirag Patel","item_type":"entity","text":"gene: EPAS1 was added\ngene: EPAS1 was added to Paraganglioma_phaeochromocytoma. Sources: Expert list,Expert Review,Literature\nMode of inheritance for gene: EPAS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EPAS1 were set to PMID: 22931260, 23418310, 33300499\nPhenotypes for gene: EPAS1 were set to Paraganglioma, MONDO:0000448; Pheochromocytoma, MONDO:0008233; Pheochromocytoma/paraganglioma, susceptibility to, no MIM#; Erythrocytosis, familial, 4, MIM#611783\nReview for gene: EPAS1 was set to RED\nAdded comment: PMID: 22931260\r\n2 somatic gain-of-function variants in EPAS1 gene encoding hypoxia-inducible factor 2α (HIF2A) in two patients (1 x paraganglioma, 1 x paraganglioma + somatostatinoma). Both patients had polycythemia (congenital erythrocytosis). The two variants were associated with increased HIF-2α activity and increased protein half-life.\r\n\r\nPMID: 23418310\r\n7 patients with somatic variants in EPAS1 gene (4 x multiple PGLs, 3 x single sporadic PCC/PGL). Gene expression analysis of EPAS1-mutated tumours revealed similar mRNA EPAS1 levels to those found in SDH-gene- and VHL-mutated cases and a significant up-regulation of two hypoxia-induced genes (PCSK6 and GNA14). Multiplex-PCR screening for small rearrangements detected a specific EPAS1 gain in another EPAS1-mutated tumour and in 3 non-EPAS1-mutated cases. \r\n\r\nPMID: 33300499\r\n6 germline missense variants in EPAS1 gene in patients with PPGL (Arg247Ser, Phe374Tyr, His194Arg, Pro785Thr, Ile789Val, Thr766Pro). In transient transfection studies, EPAS1/HIF-2α Arg247Ser, Phe374Tyr and Pro785Thr were all stable in normoxia. In co-immunoprecipitation assays, only the Arg247Ser variant showed diminished interaction with pVHL. A direct interaction between HIF-2α Arg247 and pVHL was confirmed in structural models. Transactivation was assessed by means of a HRE-containing reporter gene in transiently transfected cells, and significantly higher reporter activity was only observed with EPAS1/HIF-2α Phe374Tyr and Pro785Thr. In conclusion, three germline EPAS1 variants (c.739C>A (p.Arg247Ser), c.1121T>A (p.Phe374Tyr) and c.2353C>A (p.Pro785Thr)) all have some functional features in common with somatic activating mutations. Their findings suggest that these three germline variants are hypermorphic alleles that may act as modifiers to the expression of PPGLs. \nSources: Expert list, Expert Review, Literature","entity_name":"EPAS1","entity_type":"gene"},{"created":"2024-09-19T07:54:08.129878+10:00","panel_name":"Paraganglioma_phaeochromocytoma","panel_id":4365,"panel_version":"0.28","user_name":"Chirag Patel","item_type":"entity","text":"gene: MDH2 was added\ngene: MDH2 was added to Paraganglioma_phaeochromocytoma. Sources: Expert list,Expert Review,Literature\nMode of inheritance for gene: MDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MDH2 were set to PMID: 25766404, 30008476\nPhenotypes for gene: MDH2 were set to Paraganglioma, MONDO:0000448; Pheochromocytoma, MONDO:0008233; Pheochromocytoma/paraganglioma, susceptibility to, no MIM#; Developmental and epileptic encephalopathy 51, MIM#617339\nReview for gene: MDH2 was set to RED\nAdded comment: PMID: 25766404\r\nWES of tumour in 1 patient with multiple malignant paragangliomas identified a germline splice variant in MDH2 (c.429+1G>T)(variant confirmed in blood). Sanger sequencing of the 4 available primary tumours from the patient revealed loss of the MDH2 wild-type allele in two tumours, indicating loss of heterozygosity. MDH2 mRNA expression analysis revealed 6-14 fold lower levels of MDH2 expression in the four tumors carrying the variant compared with control patients. Substantially lower levels of MDH2 protein were detected in the MDH2-related tumours compared with control patients. Knockdown (KD) of MDH2 in HeLa cells by shRNA triggered the accumulation of both malate and fumarate, which was reversed by transient introduction of WT MDH2 cDNA. Segregation testing found the variant in 2 out of 5 asymptomatic relatives. MDH2 mRNA and protein expression in blood cells were statistically significantly lower in the two carriers compared with control patients. Subsequent clinical testing detected high levels of normetanephrine for one of the carriers, thus confirming the presence of the disease.\r\n\r\nPMID: 30008476\r\nSequencing of MDH2 in 830 patients with PPGLs (negative for the main PPGL driver genes), identified 5 germline variants with potential involvement in pathogenicity (3 x missense, 1 x in-frame deletion, 1 x splice-site). None of the variants was associated with an altered MDH2 localization, or mitochondrial quantity and morphology. LOH was not detected in any of the tumours carrying the missense variants, but was seen in the patient with the inframe deletion. \nSources: Expert list, Expert Review, Literature","entity_name":"MDH2","entity_type":"gene"},{"created":"2024-09-19T07:36:55.437741+10:00","panel_name":"Paraganglioma_phaeochromocytoma","panel_id":4365,"panel_version":"0.27","user_name":"Chirag Patel","item_type":"entity","text":"gene: PRKAR1A was added\ngene: PRKAR1A was added to Paraganglioma_phaeochromocytoma. Sources: Expert list,Expert Review,Literature\nMode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PRKAR1A were set to Paraganglioma, MONDO:0000448; Pheochromocytoma, MONDO:0008233; Carney complex, type 1, MIM#160980\nReview for gene: PRKAR1A was set to RED\nAdded comment: ClinGen definitive. BUT paragangliomas and phaeochromocytomas not classically reported in condition. \nSources: Expert list, Expert Review, Literature","entity_name":"PRKAR1A","entity_type":"gene"},{"created":"2024-09-19T07:33:39.196489+10:00","panel_name":"Paraganglioma_phaeochromocytoma","panel_id":4365,"panel_version":"0.26","user_name":"Chirag Patel","item_type":"entity","text":"gene: SLC25A11 was added\ngene: SLC25A11 was added to Paraganglioma_phaeochromocytoma. Sources: Expert list,Expert Review,Literature\nMode of inheritance for gene: SLC25A11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLC25A11 were set to PMID: 29431636\nPhenotypes for gene: SLC25A11 were set to Paragangliomas 6, MONDO:0032767; Pheochromocytoma, MONDO:0008233; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 6, MIM#618464\nReview for gene: SLC25A11 was set to RED\nAdded 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. \nSources: Expert list, Expert Review, Literature","entity_name":"SLC25A11","entity_type":"gene"},{"created":"2024-09-19T07:27:46.502377+10:00","panel_name":"Paraganglioma_phaeochromocytoma","panel_id":4365,"panel_version":"0.25","user_name":"Chirag Patel","item_type":"entity","text":"gene: DLST was added\ngene: DLST was added to Paraganglioma_phaeochromocytoma. Sources: Expert list,Expert Review,Literature\nMode of inheritance for gene: DLST was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DLST were set to PMID: 30929736, 33180916\nPhenotypes for gene: DLST were set to Paragangliomas 7, MONDO:0032771; Pheochromocytoma, MONDO:0008233; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 7, MIM#618475\nReview for gene: DLST was set to RED\nAdded comment: PMID: 30929736\r\n4 unrelated patients with pheochromocytomas and paragangliomas with the same germline heterozygous missense variant in DLST gene (G374E). Analysis of tumour tissue available from 3 of the patients showed loss of heterozygosity (LOH) for DLST due to uniparental disomy (UPD) of the paternal chromosome. None of the patients had a family history of the disorder, although 3 probands had asymptomatic family members who carried the mutation, consistent with incomplete penetrance. Knockdown of the DLST gene in human H838 cells resulted in a significant block in carbon flow in the tricarboxylic acid (TCA) cycle, which was rescued by wildtype DLST, but not by the G374E mutant. Many PPGL genes encode proteins involved in the tricarboxylic acid (TCA) cycle. In vitro functional expression studies showed that the G374E mutant had compromised catalytic activity compared to wildtype, resulting in a high alpha-KG/fumarate ratio and accumulation of the oncometabolite 2-hydroxyglutaric acid (2HG), particularly the L-2HG enantiomer. Analysis of patient tumours showed strong immunostaining for DLST as well as a hypermethylated phenotype, categorized in the non-CIMP (CpG island methylator phenotype) cluster, and a pseudohypoxic state with increased expression of HIF3A. The findings indicated that DLST can act as a tumour suppression gene. Heterozygous missense variants in DLST (R231Q, D304N, and Y422C) were found in 3 additional probands, but in vitro functional studies of these 3 other missense variants indicated that they behaved similar to wildtype DLST in the assay used. None of the patients besides those with the G374E variant showed LOH in tumour tissue. \r\n\r\nPMID: 30929736\r\n2 unrelated patients with pheochromocytomas and paragangliomas with 2 different germline heterozygous missense variants in DLST gene (Pro384Leu, Gly374Glu). Tumour testing in 1 patient identified a second somatic missense variant in DLST (Thr383Ala). They showed the p.(Pro384Leu) variant, located in the catalytic site of DLST, leads to a dramatic but not complete loss of catalytic activity. \nSources: Expert list, Expert Review, Literature","entity_name":"DLST","entity_type":"gene"},{"created":"2024-09-19T07:10:14.581281+10:00","panel_name":"Paraganglioma_phaeochromocytoma","panel_id":4365,"panel_version":"0.24","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: FH as Green List (high evidence)","entity_name":"FH","entity_type":"gene"},{"created":"2024-09-19T07:10:14.564208+10:00","panel_name":"Paraganglioma_phaeochromocytoma","panel_id":4365,"panel_version":"0.24","user_name":"Chirag Patel","item_type":"entity","text":"Gene: fh has been classified as Green List (High Evidence).","entity_name":"FH","entity_type":"gene"},{"created":"2024-09-19T07:10:10.076967+10:00","panel_name":"Paraganglioma_phaeochromocytoma","panel_id":4365,"panel_version":"0.23","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: MEN1 as Green List (high evidence)","entity_name":"MEN1","entity_type":"gene"},{"created":"2024-09-19T07:10:10.060101+10:00","panel_name":"Paraganglioma_phaeochromocytoma","panel_id":4365,"panel_version":"0.23","user_name":"Chirag Patel","item_type":"entity","text":"Gene: men1 has been classified as Green List (High Evidence).","entity_name":"MEN1","entity_type":"gene"},{"created":"2024-09-19T07:10:04.175110+10:00","panel_name":"Paraganglioma_phaeochromocytoma","panel_id":4365,"panel_version":"0.22","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: NF1 as Green List (high evidence)","entity_name":"NF1","entity_type":"gene"},{"created":"2024-09-19T07:10:04.150888+10:00","panel_name":"Paraganglioma_phaeochromocytoma","panel_id":4365,"panel_version":"0.22","user_name":"Chirag Patel","item_type":"entity","text":"Gene: nf1 has been classified as Green List (High Evidence).","entity_name":"NF1","entity_type":"gene"},{"created":"2024-09-19T07:10:00.201424+10:00","panel_name":"Paraganglioma_phaeochromocytoma","panel_id":4365,"panel_version":"0.21","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: RET as Green List (high evidence)","entity_name":"RET","entity_type":"gene"},{"created":"2024-09-19T07:10:00.182956+10:00","panel_name":"Paraganglioma_phaeochromocytoma","panel_id":4365,"panel_version":"0.21","user_name":"Chirag Patel","item_type":"entity","text":"Gene: ret has been classified as Green List (High Evidence).","entity_name":"RET","entity_type":"gene"},{"created":"2024-09-19T07:09:49.929481+10:00","panel_name":"Paraganglioma_phaeochromocytoma","panel_id":4365,"panel_version":"0.20","user_name":"Chirag Patel","item_type":"entity","text":"gene: RET was added\ngene: RET was added to Paraganglioma_phaeochromocytoma. Sources: Expert list,Expert Review\nMode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RET were set to Paraganglioma, MONDO:0000448; Pheochromocytoma, MONDO:0008233; Multiple endocrine neoplasia type 2A, MONDO:0008234; Multiple endocrine neoplasia type 2B, MONDO:0008082; Multiple endocrine neoplasia, type 2A, MIM#171400; Multiple endocrine neoplasia, type 2B, MIM#162300; Pheochromocytoma, MIM#171300; Medullary thyroid carcinoma, MIM#155240; Pheochromocytoma, susceptibility to, MIM#171300\nMode of pathogenicity for gene: RET was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: RET was set to GREEN\nAdded comment: ClinGen definitive. Paragangliomas and phaeochromocytomas reported in condition. GOF variants. \nSources: Expert list, Expert Review","entity_name":"RET","entity_type":"gene"},{"created":"2024-09-19T07:09:24.383142+10:00","panel_name":"Paraganglioma_phaeochromocytoma","panel_id":4365,"panel_version":"0.19","user_name":"Chirag Patel","item_type":"entity","text":"gene: NF1 was added\ngene: NF1 was added to Paraganglioma_phaeochromocytoma. Sources: Expert list,Expert Review\nMode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NF1 were set to Paraganglioma, MONDO:0000448; Pheochromocytoma, MONDO:0008233; Neurofibromatosis type 1, MONDO:0018975; Neurofibromatosis, type 1, MIM#162200\nReview for gene: NF1 was set to GREEN\nAdded comment: ClinGen definitive. Paragangliomas and phaeochromocytomas reported in condition.\r\n\r\nSingle gene testing may be more appropriate if clinical features of NF1. \nSources: Expert list, Expert Review","entity_name":"NF1","entity_type":"gene"},{"created":"2024-09-19T07:09:06.324052+10:00","panel_name":"Paraganglioma_phaeochromocytoma","panel_id":4365,"panel_version":"0.18","user_name":"Chirag Patel","item_type":"entity","text":"gene: MEN1 was added\ngene: MEN1 was added to Paraganglioma_phaeochromocytoma. Sources: Expert list,Expert Review\nMode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MEN1 were set to Paraganglioma, MONDO:0000448; Pheochromocytoma, MONDO:0008233; Multiple endocrine neoplasia type 1, MONDO:0007540; Multiple endocrine neoplasia, type 1, MIM#131100\nReview for gene: MEN1 was set to GREEN\nAdded comment: ClinGen definitive. Paragangliomas and phaeochromocytomas reported in condition. \nSources: Expert list, Expert Review","entity_name":"MEN1","entity_type":"gene"},{"created":"2024-09-19T07:08:54.956855+10:00","panel_name":"Paraganglioma_phaeochromocytoma","panel_id":4365,"panel_version":"0.17","user_name":"Chirag Patel","item_type":"entity","text":"gene: FH was added\ngene: FH was added to Paraganglioma_phaeochromocytoma. Sources: Expert list,Expert Review\nMode of inheritance for gene: FH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes 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\nReview for gene: FH was set to GREEN\nAdded comment: ClinGen definitive. Paragangliomas and phaeochromocytomas reported in condition. \nSources: Expert list, Expert Review","entity_name":"FH","entity_type":"gene"},{"created":"2024-09-19T07:06:48.588257+10:00","panel_name":"Paraganglioma_phaeochromocytoma","panel_id":4365,"panel_version":"0.16","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: MAX as Green List (high evidence)","entity_name":"MAX","entity_type":"gene"},{"created":"2024-09-19T07:06:48.578208+10:00","panel_name":"Paraganglioma_phaeochromocytoma","panel_id":4365,"panel_version":"0.16","user_name":"Chirag Patel","item_type":"entity","text":"Gene: max has been classified as Green List (High Evidence).","entity_name":"MAX","entity_type":"gene"},{"created":"2024-09-19T07:06:43.466003+10:00","panel_name":"Paraganglioma_phaeochromocytoma","panel_id":4365,"panel_version":"0.15","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: SDHA as Green List (high evidence)","entity_name":"SDHA","entity_type":"gene"},{"created":"2024-09-19T07:06:43.448181+10:00","panel_name":"Paraganglioma_phaeochromocytoma","panel_id":4365,"panel_version":"0.15","user_name":"Chirag Patel","item_type":"entity","text":"Gene: sdha has been classified as Green List (High Evidence).","entity_name":"SDHA","entity_type":"gene"},{"created":"2024-09-19T07:06:37.066739+10:00","panel_name":"Paraganglioma_phaeochromocytoma","panel_id":4365,"panel_version":"0.14","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: SDHAF2 as Green List (high evidence)","entity_name":"SDHAF2","entity_type":"gene"},{"created":"2024-09-19T07:06:37.050747+10:00","panel_name":"Paraganglioma_phaeochromocytoma","panel_id":4365,"panel_version":"0.14","user_name":"Chirag Patel","item_type":"entity","text":"Gene: sdhaf2 has been classified as Green List (High Evidence).","entity_name":"SDHAF2","entity_type":"gene"},{"created":"2024-09-19T07:06:32.718072+10:00","panel_name":"Paraganglioma_phaeochromocytoma","panel_id":4365,"panel_version":"0.13","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: SDHB as Green List (high evidence)","entity_name":"SDHB","entity_type":"gene"},{"created":"2024-09-19T07:06:32.699362+10:00","panel_name":"Paraganglioma_phaeochromocytoma","panel_id":4365,"panel_version":"0.13","user_name":"Chirag Patel","item_type":"entity","text":"Gene: sdhb has been classified as Green List (High Evidence).","entity_name":"SDHB","entity_type":"gene"},{"created":"2024-09-19T07:06:28.334472+10:00","panel_name":"Paraganglioma_phaeochromocytoma","panel_id":4365,"panel_version":"0.12","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: SDHC as Green List (high evidence)","entity_name":"SDHC","entity_type":"gene"},{"created":"2024-09-19T07:06:28.313976+10:00","panel_name":"Paraganglioma_phaeochromocytoma","panel_id":4365,"panel_version":"0.12","user_name":"Chirag Patel","item_type":"entity","text":"Gene: sdhc has been classified as Green List (High Evidence).","entity_name":"SDHC","entity_type":"gene"},{"created":"2024-09-19T07:06:22.678143+10:00","panel_name":"Paraganglioma_phaeochromocytoma","panel_id":4365,"panel_version":"0.11","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: SDHD as Green List (high evidence)","entity_name":"SDHD","entity_type":"gene"},{"created":"2024-09-19T07:06:22.656839+10:00","panel_name":"Paraganglioma_phaeochromocytoma","panel_id":4365,"panel_version":"0.11","user_name":"Chirag Patel","item_type":"entity","text":"Gene: sdhd has been classified as Green List (High Evidence).","entity_name":"SDHD","entity_type":"gene"},{"created":"2024-09-19T07:06:17.722916+10:00","panel_name":"Paraganglioma_phaeochromocytoma","panel_id":4365,"panel_version":"0.10","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: TMEM127 as Green List (high evidence)","entity_name":"TMEM127","entity_type":"gene"},{"created":"2024-09-19T07:06:17.705906+10:00","panel_name":"Paraganglioma_phaeochromocytoma","panel_id":4365,"panel_version":"0.10","user_name":"Chirag Patel","item_type":"entity","text":"Gene: tmem127 has been classified as Green List (High Evidence).","entity_name":"TMEM127","entity_type":"gene"},{"created":"2024-09-19T07:06:12.769159+10:00","panel_name":"Paraganglioma_phaeochromocytoma","panel_id":4365,"panel_version":"0.9","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: VHL as Green List (high evidence)","entity_name":"VHL","entity_type":"gene"},{"created":"2024-09-19T07:06:12.752025+10:00","panel_name":"Paraganglioma_phaeochromocytoma","panel_id":4365,"panel_version":"0.9","user_name":"Chirag Patel","item_type":"entity","text":"Gene: vhl has been classified as Green List (High Evidence).","entity_name":"VHL","entity_type":"gene"},{"created":"2024-09-19T07:06:00.873530+10:00","panel_name":"Paraganglioma_phaeochromocytoma","panel_id":4365,"panel_version":"0.8","user_name":"Chirag Patel","item_type":"entity","text":"gene: VHL was added\ngene: VHL was added to Paraganglioma_phaeochromocytoma. Sources: Expert list,Expert Review\nMode of inheritance for gene: VHL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: VHL were set to Paraganglioma, MONDO:0000448; Pheochromocytoma, MONDO:0008233; Von Hippel-Lindau disease, MONDO:0008667; von Hippel-Lindau syndrome, MIM#193300; Pheochromocytoma, susceptibility to, MIM#171300\nReview for gene: VHL was set to GREEN\nAdded comment: ClinGen definitive. Paragangliomas and phaeochromocytomas reported in condition. \nSources: Expert list, Expert Review","entity_name":"VHL","entity_type":"gene"},{"created":"2024-09-19T07:05:45.732213+10:00","panel_name":"Paraganglioma_phaeochromocytoma","panel_id":4365,"panel_version":"0.7","user_name":"Chirag Patel","item_type":"entity","text":"gene: TMEM127 was added\ngene: TMEM127 was added to Paraganglioma_phaeochromocytoma. Sources: Expert list,Expert Review\nMode of inheritance for gene: TMEM127 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TMEM127 were set to Paraganglioma, MONDO:0000448; Pheochromocytoma, MONDO:0008233; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma, susceptibility to, MIM#171300\nReview for gene: TMEM127 was set to GREEN\nAdded comment: ClinGen definitive. \nSources: Expert list, Expert Review","entity_name":"TMEM127","entity_type":"gene"},{"created":"2024-09-19T07:05:05.822949+10:00","panel_name":"Paraganglioma_phaeochromocytoma","panel_id":4365,"panel_version":"0.6","user_name":"Chirag Patel","item_type":"entity","text":"gene: SDHD was added\ngene: SDHD was added to Paraganglioma_phaeochromocytoma. Sources: Expert list,Expert Review\nMode of inheritance for gene: SDHD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SDHD were set to Paragangliomas 1, MONDO:0008192; Pheochromocytoma, MONDO:0008233; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 1, MIM#168000\nReview for gene: SDHD was set to GREEN\nAdded comment: ClinGen definitive. \nSources: Expert list, Expert Review","entity_name":"SDHD","entity_type":"gene"},{"created":"2024-09-19T07:04:54.474631+10:00","panel_name":"Paraganglioma_phaeochromocytoma","panel_id":4365,"panel_version":"0.5","user_name":"Chirag Patel","item_type":"entity","text":"gene: SDHC was added\ngene: SDHC was added to Paraganglioma_phaeochromocytoma. Sources: Expert list,Expert Review\nMode of inheritance for gene: SDHC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SDHC were set to Paragangliomas 3, MONDO:0011544; Pheochromocytoma, MONDO:0008233; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 3, MIM#605373\nReview for gene: SDHC was set to GREEN\nAdded comment: ClinGen definitive. \nSources: Expert list, Expert Review","entity_name":"SDHC","entity_type":"gene"},{"created":"2024-09-19T07:04:43.653811+10:00","panel_name":"Paraganglioma_phaeochromocytoma","panel_id":4365,"panel_version":"0.4","user_name":"Chirag Patel","item_type":"entity","text":"gene: SDHB was added\ngene: SDHB was added to Paraganglioma_phaeochromocytoma. Sources: Expert list,Expert Review\nMode of inheritance for gene: SDHB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SDHB were set to Paragangliomas 4, MONDO:0007273; Pheochromocytoma, MONDO:0008233; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 4, MIM#115310\nReview for gene: SDHB was set to GREEN\nAdded comment: ClinGen definitive. \nSources: Expert list, Expert Review","entity_name":"SDHB","entity_type":"gene"},{"created":"2024-09-19T07:04:32.319636+10:00","panel_name":"Paraganglioma_phaeochromocytoma","panel_id":4365,"panel_version":"0.3","user_name":"Chirag Patel","item_type":"entity","text":"gene: SDHAF2 was added\ngene: SDHAF2 was added to Paraganglioma_phaeochromocytoma. Sources: Expert list,Expert Review\nMode of inheritance for gene: SDHAF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SDHAF2 were set to Paragangliomas 2, MONDO:0011121; Pheochromocytoma, MONDO:0008233; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 2, MIM#601650\nReview for gene: SDHAF2 was set to GREEN\nAdded comment: ClinGen definitive. \nSources: Expert list, Expert Review","entity_name":"SDHAF2","entity_type":"gene"},{"created":"2024-09-19T07:04:19.988557+10:00","panel_name":"Paraganglioma_phaeochromocytoma","panel_id":4365,"panel_version":"0.2","user_name":"Chirag Patel","item_type":"entity","text":"gene: SDHA was added\ngene: SDHA was added to Paraganglioma_phaeochromocytoma. Sources: Expert list,Expert Review\nMode of inheritance for gene: SDHA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SDHA were set to Paragangliomas 5, MONDO:0013602; Pheochromocytoma, MONDO:0008233; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 5, MIM#614165\nReview for gene: SDHA was set to GREEN\nAdded comment: ClinGen definitive. \nSources: Expert list, Expert Review","entity_name":"SDHA","entity_type":"gene"},{"created":"2024-09-19T07:04:04.263433+10:00","panel_name":"Paraganglioma_phaeochromocytoma","panel_id":4365,"panel_version":"0.1","user_name":"Chirag Patel","item_type":"entity","text":"gene: MAX was added\ngene: MAX was added to Paraganglioma_phaeochromocytoma. Sources: Expert list,Expert Review\nMode of inheritance for gene: MAX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MAX were set to Paraganglioma, MONDO:0000448; Pheochromocytoma, MONDO:0008233; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma, susceptibility to, MIM#171300\nReview for gene: MAX was set to GREEN\nAdded comment: ClinGen definitive. \nSources: Expert list, Expert Review","entity_name":"MAX","entity_type":"gene"},{"created":"2024-09-18T21:11:06.574204+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.322","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: DYNC2LI1 as ready","entity_name":"DYNC2LI1","entity_type":"gene"},{"created":"2024-09-18T21:11:06.562194+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.322","user_name":"Lilian Downie","item_type":"entity","text":"Gene: dync2li1 has been classified as Green List (High Evidence).","entity_name":"DYNC2LI1","entity_type":"gene"},{"created":"2024-09-18T21:10:57.581636+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.322","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: DYNC2LI1 were set to ","entity_name":"DYNC2LI1","entity_type":"gene"},{"created":"2024-09-18T21:10:06.295715+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.321","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: EPCAM as ready","entity_name":"EPCAM","entity_type":"gene"},{"created":"2024-09-18T21:10:06.277042+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.321","user_name":"Lilian Downie","item_type":"entity","text":"Gene: epcam has been classified as Green List (High Evidence).","entity_name":"EPCAM","entity_type":"gene"},{"created":"2024-09-18T21:09:59.009602+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.321","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: EPCAM were set to ","entity_name":"EPCAM","entity_type":"gene"},{"created":"2024-09-18T21:08:42.491751+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.320","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: EVC as ready","entity_name":"EVC","entity_type":"gene"},{"created":"2024-09-18T21:08:42.467315+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.320","user_name":"Lilian Downie","item_type":"entity","text":"Gene: evc has been classified as Green List (High Evidence).","entity_name":"EVC","entity_type":"gene"},{"created":"2024-09-18T21:08:37.524766+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.320","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: EVC were set to ","entity_name":"EVC","entity_type":"gene"},{"created":"2024-09-18T21:07:34.560990+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.319","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: ERCC2 as ready","entity_name":"ERCC2","entity_type":"gene"},{"created":"2024-09-18T21:07:34.545321+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.319","user_name":"Lilian Downie","item_type":"entity","text":"Gene: ercc2 has been classified as Green List (High Evidence).","entity_name":"ERCC2","entity_type":"gene"},{"created":"2024-09-18T21:07:30.494423+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.319","user_name":"Lilian Downie","item_type":"entity","text":"Phenotypes for gene: ERCC2 were changed from Cerebrooculofacioskeletal syndrome 2, 610756 (3) to Cerebrooculofacioskeletal syndrome 2, MIM# 610756; Trichothiodystrophy 1, photosensitive, MIM# 601675; Xeroderma pigmentosum, group D, MIM# 278730","entity_name":"ERCC2","entity_type":"gene"},{"created":"2024-09-18T21:07:01.589209+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.318","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: ERCC2 were set to ","entity_name":"ERCC2","entity_type":"gene"},{"created":"2024-09-18T21:05:58.284590+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.317","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: ABCD1 as ready","entity_name":"ABCD1","entity_type":"gene"},{"created":"2024-09-18T21:05:58.267399+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.317","user_name":"Lilian Downie","item_type":"entity","text":"Gene: abcd1 has been classified as Green List (High Evidence).","entity_name":"ABCD1","entity_type":"gene"},{"created":"2024-09-18T21:05:52.098478+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.317","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: ABCD1 were set to ","entity_name":"ABCD1","entity_type":"gene"},{"created":"2024-09-18T21:03:39.138374+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.316","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: ACOX1 as ready","entity_name":"ACOX1","entity_type":"gene"},{"created":"2024-09-18T21:03:39.121538+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.316","user_name":"Lilian Downie","item_type":"entity","text":"Gene: acox1 has been classified as Green List (High Evidence).","entity_name":"ACOX1","entity_type":"gene"},{"created":"2024-09-18T21:03:34.332588+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.316","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: ACOX1 were set to ","entity_name":"ACOX1","entity_type":"gene"},{"created":"2024-09-18T21:02:27.435839+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.315","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: ADAMTS13 as ready","entity_name":"ADAMTS13","entity_type":"gene"},{"created":"2024-09-18T21:02:27.418557+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.315","user_name":"Lilian Downie","item_type":"entity","text":"Gene: adamts13 has been classified as Green List (High Evidence).","entity_name":"ADAMTS13","entity_type":"gene"},{"created":"2024-09-18T21:02:24.043082+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.315","user_name":"Lilian Downie","item_type":"entity","text":"Phenotypes for gene: ADAMTS13 were changed from Thrombotic thrombocytopenic purpura, familial, 274150 (3) to Thrombotic thrombocytopenic purpura, hereditary, MIM#274150","entity_name":"ADAMTS13","entity_type":"gene"},{"created":"2024-09-18T21:01:32.070797+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.314","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: ADAMTS13 were set to 16796708; 34702267","entity_name":"ADAMTS13","entity_type":"gene"}]}