{"count":221415,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=392","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=390","results":[{"created":"2024-09-12T16:05:30.196208+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.14","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: VHL as Green List (high evidence)","entity_name":"VHL","entity_type":"gene"},{"created":"2024-09-12T16:05:30.178337+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.14","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":"2024-09-12T16:05:24.270298+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.13","user_name":"Chirag Patel","item_type":"entity","text":"gene: VHL was added\ngene: VHL was added to Kidney Cancer. 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 Renal carcinoma, MONDO:0005206; 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. Renal carcinoma reported in condition. \nSources: Expert list, Expert Review","entity_name":"VHL","entity_type":"gene"},{"created":"2024-09-12T16:05:20.161355+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.12","user_name":"Chirag Patel","item_type":"entity","text":"gene: TSC2 was added\ngene: TSC2 was added to Kidney Cancer. Sources: Expert list,Expert Review\nMode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TSC2 were set to Renal carcinoma, MONDO:0005206; Tuberous sclerosis 2, MONDO:0013199; Tuberous sclerosis-2, MIM#613254\nReview for gene: TSC2 was set to GREEN\nAdded comment: ClinGen definitive. Renal carcinoma reported in condition. \nSources: Expert list, Expert Review","entity_name":"TSC2","entity_type":"gene"},{"created":"2024-09-12T16:05:14.689590+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.11","user_name":"Chirag Patel","item_type":"entity","text":"gene: TSC1 was added\ngene: TSC1 was added to Kidney Cancer. Sources: Expert list,Expert Review\nMode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TSC1 were set to Renal carcinoma, MONDO:0005206; Tuberous sclerosis 1, MONDO:0008612; Tuberous sclerosis-1, MIM#191100\nReview for gene: TSC1 was set to GREEN\nAdded comment: ClinGen definitive. Renal carcinoma reported in condition. \nSources: Expert list, Expert Review","entity_name":"TSC1","entity_type":"gene"},{"created":"2024-09-12T16:03:29.409030+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.10","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: SDHD as Green List (high evidence)","entity_name":"SDHD","entity_type":"gene"},{"created":"2024-09-12T16:03:29.389259+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.10","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":"2024-09-12T16:03:24.894566+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.9","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: SDHC as Green List (high evidence)","entity_name":"SDHC","entity_type":"gene"},{"created":"2024-09-12T16:03:24.877677+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.9","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":"2024-09-12T16:03:18.439849+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.8","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: SDHB as Green List (high evidence)","entity_name":"SDHB","entity_type":"gene"},{"created":"2024-09-12T16:03:18.412094+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.8","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":"2024-09-12T16:03:12.154354+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.7","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: SDHAF2 as Green List (high evidence)","entity_name":"SDHAF2","entity_type":"gene"},{"created":"2024-09-12T16:03:12.141400+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.7","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":"2024-09-12T16:03:07.343678+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.6","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: SDHA as Green List (high evidence)","entity_name":"SDHA","entity_type":"gene"},{"created":"2024-09-12T16:03:07.311663+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.6","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":"2024-09-12T16:02:53.237259+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.5","user_name":"Chirag Patel","item_type":"entity","text":"gene: SDHA was added\ngene: SDHA was added to Kidney Cancer. 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 Renal carcinoma, MONDO:0005206; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 5, MIM#614165\nReview for gene: SDHA was set to GREEN\nAdded comment: ClinGen definitive. Renal carcinoma reported in condition. \nSources: Expert list, Expert Review","entity_name":"SDHA","entity_type":"gene"},{"created":"2024-09-12T16:02:50.737659+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.4","user_name":"Chirag Patel","item_type":"entity","text":"gene: SDHAF2 was added\ngene: SDHAF2 was added to Kidney Cancer. 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 Renal carcinoma, MONDO:0005206; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 2, MIM#601650\nReview for gene: SDHAF2 was set to GREEN\nAdded comment: ClinGen definitive. Renal carcinoma reported in condition. \nSources: Expert list, Expert Review","entity_name":"SDHAF2","entity_type":"gene"},{"created":"2024-09-12T16:02:47.425623+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.3","user_name":"Chirag Patel","item_type":"entity","text":"gene: SDHB was added\ngene: SDHB was added to Kidney Cancer. 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 Renal carcinoma, MONDO:0005206; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 4, MIM#115310\nReview for gene: SDHB was set to GREEN\nAdded comment: ClinGen definitive. Renal carcinoma reported in condition. \nSources: Expert list, Expert Review","entity_name":"SDHB","entity_type":"gene"},{"created":"2024-09-12T16:02:44.624252+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.2","user_name":"Chirag Patel","item_type":"entity","text":"gene: SDHC was added\ngene: SDHC was added to Kidney Cancer. 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 Renal carcinoma, MONDO:0005206; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 3, MIM#605373\nReview for gene: SDHC was set to GREEN\nAdded comment: ClinGen definitive. Renal carcinoma reported in condition. \nSources: Expert list, Expert Review","entity_name":"SDHC","entity_type":"gene"},{"created":"2024-09-12T16:02:42.531582+10:00","panel_name":"Kidney Cancer","panel_id":4367,"panel_version":"0.1","user_name":"Chirag Patel","item_type":"entity","text":"gene: SDHD was added\ngene: SDHD was added to Kidney Cancer. 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 Renal carcinoma, MONDO:0005206; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 1, MIM#168000\nReview for gene: SDHD was set to GREEN\nAdded comment: ClinGen definitive. Renal carcinoma reported in condition. \nSources: Expert list, Expert Review","entity_name":"SDHD","entity_type":"gene"},{"created":"2024-09-12T15:44:26.298543+10:00","panel_name":"Thyroid Neoplasm","panel_id":4362,"panel_version":"0.12","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: APC as Green List (high evidence)","entity_name":"APC","entity_type":"gene"},{"created":"2024-09-12T15:44:26.279937+10:00","panel_name":"Thyroid Neoplasm","panel_id":4362,"panel_version":"0.12","user_name":"Chirag Patel","item_type":"entity","text":"Gene: apc has been classified as Green List (High Evidence).","entity_name":"APC","entity_type":"gene"},{"created":"2024-09-12T15:44:20.637287+10:00","panel_name":"Thyroid Neoplasm","panel_id":4362,"panel_version":"0.11","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: CDKN1B as Green List (high evidence)","entity_name":"CDKN1B","entity_type":"gene"},{"created":"2024-09-12T15:44:20.617711+10:00","panel_name":"Thyroid Neoplasm","panel_id":4362,"panel_version":"0.11","user_name":"Chirag Patel","item_type":"entity","text":"Gene: cdkn1b has been classified as Green List (High Evidence).","entity_name":"CDKN1B","entity_type":"gene"},{"created":"2024-09-12T15:44:15.764005+10:00","panel_name":"Thyroid Neoplasm","panel_id":4362,"panel_version":"0.10","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: DICER1 as Green List (high evidence)","entity_name":"DICER1","entity_type":"gene"},{"created":"2024-09-12T15:44:15.735466+10:00","panel_name":"Thyroid Neoplasm","panel_id":4362,"panel_version":"0.10","user_name":"Chirag Patel","item_type":"entity","text":"Gene: dicer1 has been classified as Green List (High Evidence).","entity_name":"DICER1","entity_type":"gene"},{"created":"2024-09-12T15:44:07.991787+10:00","panel_name":"Thyroid Neoplasm","panel_id":4362,"panel_version":"0.9","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: PRKAR1A as Green List (high evidence)","entity_name":"PRKAR1A","entity_type":"gene"},{"created":"2024-09-12T15:44:07.975016+10:00","panel_name":"Thyroid Neoplasm","panel_id":4362,"panel_version":"0.9","user_name":"Chirag Patel","item_type":"entity","text":"Gene: prkar1a has been classified as Green List (High Evidence).","entity_name":"PRKAR1A","entity_type":"gene"},{"created":"2024-09-12T15:43:57.484447+10:00","panel_name":"Thyroid Neoplasm","panel_id":4362,"panel_version":"0.8","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: PTEN as Green List (high evidence)","entity_name":"PTEN","entity_type":"gene"},{"created":"2024-09-12T15:43:57.452803+10:00","panel_name":"Thyroid Neoplasm","panel_id":4362,"panel_version":"0.8","user_name":"Chirag Patel","item_type":"entity","text":"Gene: pten has been classified as Green List (High Evidence).","entity_name":"PTEN","entity_type":"gene"},{"created":"2024-09-12T15:43:51.938405+10:00","panel_name":"Thyroid Neoplasm","panel_id":4362,"panel_version":"0.7","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: RET as Green List (high evidence)","entity_name":"RET","entity_type":"gene"},{"created":"2024-09-12T15:43:51.909034+10:00","panel_name":"Thyroid Neoplasm","panel_id":4362,"panel_version":"0.7","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":"2024-09-12T15:43:43.142993+10:00","panel_name":"Thyroid Neoplasm","panel_id":4362,"panel_version":"0.6","user_name":"Chirag Patel","item_type":"entity","text":"gene: APC was added\ngene: APC was added to Thyroid Neoplasm. Sources: Expert list,Expert Review\nMode of inheritance for gene: APC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: APC were set to Thyroid cancer, MONDO:0002108; Thyroid gland papillary carcinoma, MONDO:0005075; Familial adenomatous polyposis 1, MONDO:0021056; Adenomatous polyposis coli, MIM#175100\nReview for gene: APC was set to GREEN\nAdded comment: ClinGen definitive. Papillary thyroid cancer reported in condition. \nSources: Expert list, Expert Review","entity_name":"APC","entity_type":"gene"},{"created":"2024-09-12T15:43:16.404559+10:00","panel_name":"Thyroid Neoplasm","panel_id":4362,"panel_version":"0.5","user_name":"Chirag Patel","item_type":"entity","text":"gene: CDKN1B was added\ngene: CDKN1B was added to Thyroid Neoplasm. Sources: Expert list,Expert Review\nMode of inheritance for gene: CDKN1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CDKN1B were set to Thyroid cancer, MONDO:0002108; Thyroid gland papillary carcinoma, MONDO:0005075; Multiple endocrine neoplasia type 4, MONDO:0012552; Multiple endocrine neoplasia, type 4, MIM#610755\nReview for gene: CDKN1B was set to GREEN\nAdded comment: ClinGen definitive. Papillary thyroid cancer reported in condition. \nSources: Expert list, Expert Review","entity_name":"CDKN1B","entity_type":"gene"},{"created":"2024-09-12T15:42:53.644888+10:00","panel_name":"Thyroid Neoplasm","panel_id":4362,"panel_version":"0.4","user_name":"Chirag Patel","item_type":"entity","text":"gene: DICER1 was added\ngene: DICER1 was added to Thyroid Neoplasm. Sources: Expert list,Expert Review\nMode of inheritance for gene: DICER1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DICER1 were set to Thyroid cancer, MONDO:0002108; Thyroid gland papillary carcinoma, MONDO:0005075; DICER1-related tumor predisposition, MONDO:0100216; DICER1 syndrome, MIM#601200\nReview for gene: DICER1 was set to GREEN\nAdded comment: ClinGen definitive. Papillary thyroid cancer reported in condition. \nSources: Expert list, Expert Review","entity_name":"DICER1","entity_type":"gene"},{"created":"2024-09-12T15:42:18.102227+10:00","panel_name":"Thyroid Neoplasm","panel_id":4362,"panel_version":"0.3","user_name":"Chirag Patel","item_type":"entity","text":"changed review comment from: ClinGen definitive. GOF variants. \r\nSources: Expert list, Expert Review; to: ClinGen definitive. Medullary thyroid cancer reported in condition. GOF variants. \r\nSources: Expert list, Expert Review","entity_name":"RET","entity_type":"gene"},{"created":"2024-09-12T15:42:08.930573+10:00","panel_name":"Thyroid Neoplasm","panel_id":4362,"panel_version":"0.3","user_name":"Chirag Patel","item_type":"entity","text":"gene: PRKAR1A was added\ngene: PRKAR1A was added to Thyroid Neoplasm. Sources: Expert list,Expert Review\nMode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PRKAR1A were set to Thyroid cancer, MONDO:0002108; Thyroid gland follicular carcinoma, MONDO:0005034; Carney complex type 1, MONDO:0008057; Carney complex, type 1, MIM#160980\nReview for gene: PRKAR1A was set to GREEN\nAdded comment: ClinGen definitive. Follicular thyroid cancer reported in condition. \nSources: Expert list, Expert Review","entity_name":"PRKAR1A","entity_type":"gene"},{"created":"2024-09-12T15:41:35.381099+10:00","panel_name":"Thyroid Neoplasm","panel_id":4362,"panel_version":"0.2","user_name":"Chirag Patel","item_type":"entity","text":"gene: PTEN was added\ngene: PTEN was added to Thyroid Neoplasm. Sources: Expert list,Expert Review\nMode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PTEN were set to Thyroid cancer, MONDO:0002108; Thyroid gland follicular carcinoma, MONDO:0005034; PTEN hamartoma tumor syndrome, MONDO:0017623; PTEN hamartoma tumour syndromes, MIM#158350\nReview for gene: PTEN was set to GREEN\nAdded comment: ClinGen definitive. Follicular thyroid cancer reported in condition. \nSources: Expert list, Expert Review","entity_name":"PTEN","entity_type":"gene"},{"created":"2024-09-12T15:40:37.417049+10:00","panel_name":"Thyroid Neoplasm","panel_id":4362,"panel_version":"0.1","user_name":"Chirag Patel","item_type":"entity","text":"changed review comment from: ClinGen definitive. Thyroid cancer reported in condition. GOF variants. \nSources: Expert list, Expert Review; to: ClinGen definitive. GOF variants. \r\nSources: Expert list, Expert Review","entity_name":"RET","entity_type":"gene"},{"created":"2024-09-12T15:40:22.331227+10:00","panel_name":"Thyroid Neoplasm","panel_id":4362,"panel_version":"0.1","user_name":"Chirag Patel","item_type":"entity","text":"gene: RET was added\ngene: RET was added to Thyroid Neoplasm. 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 Thyroid cancer, MONDO:0002108; Medullary thyroid gland carcinoma, MONDO:0015277; 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. Thyroid cancer reported in condition. GOF variants. \nSources: Expert list, Expert Review","entity_name":"RET","entity_type":"gene"},{"created":"2024-09-12T15:24:32.473495+10:00","panel_name":"Parathyroid Neoplasm","panel_id":4363,"panel_version":"0.12","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: CASR as Green List (high evidence)","entity_name":"CASR","entity_type":"gene"},{"created":"2024-09-12T15:24:32.448831+10:00","panel_name":"Parathyroid Neoplasm","panel_id":4363,"panel_version":"0.12","user_name":"Chirag Patel","item_type":"entity","text":"Gene: casr has been classified as Green List (High Evidence).","entity_name":"CASR","entity_type":"gene"},{"created":"2024-09-12T15:24:27.407624+10:00","panel_name":"Parathyroid Neoplasm","panel_id":4363,"panel_version":"0.11","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: CDC73 as Green List (high evidence)","entity_name":"CDC73","entity_type":"gene"},{"created":"2024-09-12T15:24:27.381488+10:00","panel_name":"Parathyroid Neoplasm","panel_id":4363,"panel_version":"0.11","user_name":"Chirag Patel","item_type":"entity","text":"Gene: cdc73 has been classified as Green List (High Evidence).","entity_name":"CDC73","entity_type":"gene"},{"created":"2024-09-12T15:24:22.318205+10:00","panel_name":"Parathyroid Neoplasm","panel_id":4363,"panel_version":"0.10","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: CDKN1B as Green List (high evidence)","entity_name":"CDKN1B","entity_type":"gene"},{"created":"2024-09-12T15:24:22.301151+10:00","panel_name":"Parathyroid Neoplasm","panel_id":4363,"panel_version":"0.10","user_name":"Chirag Patel","item_type":"entity","text":"Gene: cdkn1b has been classified as Green List (High Evidence).","entity_name":"CDKN1B","entity_type":"gene"},{"created":"2024-09-12T15:24:17.475680+10:00","panel_name":"Parathyroid Neoplasm","panel_id":4363,"panel_version":"0.9","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: MEN1 as Green List (high evidence)","entity_name":"MEN1","entity_type":"gene"},{"created":"2024-09-12T15:24:17.439733+10:00","panel_name":"Parathyroid Neoplasm","panel_id":4363,"panel_version":"0.9","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":"2024-09-12T15:24:12.225349+10:00","panel_name":"Parathyroid Neoplasm","panel_id":4363,"panel_version":"0.8","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: RET as Green List (high evidence)","entity_name":"RET","entity_type":"gene"},{"created":"2024-09-12T15:24:12.210005+10:00","panel_name":"Parathyroid Neoplasm","panel_id":4363,"panel_version":"0.8","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":"2024-09-12T15:24:05.470415+10:00","panel_name":"Parathyroid Neoplasm","panel_id":4363,"panel_version":"0.7","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: GCM2 as Green List (high evidence)","entity_name":"GCM2","entity_type":"gene"},{"created":"2024-09-12T15:24:05.443976+10:00","panel_name":"Parathyroid Neoplasm","panel_id":4363,"panel_version":"0.7","user_name":"Chirag Patel","item_type":"entity","text":"Gene: gcm2 has been classified as Green List (High Evidence).","entity_name":"GCM2","entity_type":"gene"},{"created":"2024-09-12T15:23:48.550551+10:00","panel_name":"Parathyroid Neoplasm","panel_id":4363,"panel_version":"0.6","user_name":"Chirag Patel","item_type":"entity","text":"gene: CASR was added\ngene: CASR was added to Parathyroid Neoplasm. Sources: Expert list,Expert Review\nMode of inheritance for gene: CASR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CASR were set to Tumor of parathyroid gland, MONDO:0021360; Familial hypocalciuric hypercalcemia 1, MONDO:0007791; Hypocalciuric hypercalcemia, type I, MIM#145980; Hypocalcemia, autosomal dominant, MIM#601198\nReview for gene: CASR was set to GREEN\nAdded comment: ClinGen definitive. Parathyroid neoplasm reported in condition. \nSources: Expert list, Expert Review","entity_name":"CASR","entity_type":"gene"},{"created":"2024-09-12T15:23:33.393398+10:00","panel_name":"Parathyroid Neoplasm","panel_id":4363,"panel_version":"0.5","user_name":"Chirag Patel","item_type":"entity","text":"gene: CDC73 was added\ngene: CDC73 was added to Parathyroid Neoplasm. Sources: Expert list,Expert Review\nMode of inheritance for gene: CDC73 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CDC73 were set to Tumor of parathyroid gland, MONDO:0021360; Hyperparathyroidism 2 with jaw tumors, MONDO:0007768; Hyperparathyroidism-jaw tumor syndrome, MIM#145001; Hyperparathyroidism, familial primary, MIM#145000\nReview for gene: CDC73 was set to GREEN\nAdded comment: ClinGen definitive. Parathyroid neoplasm reported in condition. \nSources: Expert list, Expert Review","entity_name":"CDC73","entity_type":"gene"},{"created":"2024-09-12T15:22:40.855230+10:00","panel_name":"Parathyroid Neoplasm","panel_id":4363,"panel_version":"0.4","user_name":"Chirag Patel","item_type":"entity","text":"changed review comment from: Established gene-disease association. Numerous families reported. GOF variants. \nSources: Expert list, Expert Review, Literature; to: Established gene-disease association. Numerous families reported. \r\nParathyroid neoplasm reported in condition.\r\nGOF variants. \r\nSources: Expert list, Expert Review, Literature","entity_name":"GCM2","entity_type":"gene"},{"created":"2024-09-12T15:22:06.167616+10:00","panel_name":"Parathyroid Neoplasm","panel_id":4363,"panel_version":"0.4","user_name":"Chirag Patel","item_type":"entity","text":"gene: CDKN1B was added\ngene: CDKN1B was added to Parathyroid Neoplasm. Sources: Expert list,Expert Review\nMode of inheritance for gene: CDKN1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CDKN1B were set to Tumor of parathyroid gland, MONDO:0021360; Multiple endocrine neoplasia type 4, MONDO:0012552; Multiple endocrine neoplasia, type 4, MIM#610755\nReview for gene: CDKN1B was set to GREEN\nAdded comment: ClinGen definitive. \nSources: Expert list, Expert Review","entity_name":"CDKN1B","entity_type":"gene"},{"created":"2024-09-12T15:21:32.590570+10:00","panel_name":"Parathyroid Neoplasm","panel_id":4363,"panel_version":"0.3","user_name":"Chirag Patel","item_type":"entity","text":"gene: MEN1 was added\ngene: MEN1 was added to Parathyroid Neoplasm. 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 Tumor of parathyroid gland, MONDO:0021360; 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. \nSources: Expert list, Expert Review","entity_name":"MEN1","entity_type":"gene"},{"created":"2024-09-12T15:21:06.398742+10:00","panel_name":"Parathyroid Neoplasm","panel_id":4363,"panel_version":"0.2","user_name":"Chirag Patel","item_type":"entity","text":"gene: RET was added\ngene: RET was added to Parathyroid Neoplasm. 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 Tumor of parathyroid gland, MONDO:0021360; 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. GOF variants. \nSources: Expert list, Expert Review","entity_name":"RET","entity_type":"gene"},{"created":"2024-09-12T15:20:20.199503+10:00","panel_name":"Parathyroid Neoplasm","panel_id":4363,"panel_version":"0.1","user_name":"Chirag Patel","item_type":"entity","text":"gene: GCM2 was added\ngene: GCM2 was added to Parathyroid Neoplasm. Sources: Expert list,Expert Review,Literature\nMode of inheritance for gene: GCM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GCM2 were set to PMID: 27745835, 34967908, 33471711, 29108698\nPhenotypes for gene: GCM2 were set to Tumor of parathyroid gland, MONDO:0021360; Hyperparathyroidism 4, MONDO:0024570; Hyperparathyroidism 4, MIM#617343\nMode of pathogenicity for gene: GCM2 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: GCM2 was set to GREEN\nAdded comment: Established gene-disease association. Numerous families reported. GOF variants. \nSources: Expert list, Expert Review, Literature","entity_name":"GCM2","entity_type":"gene"},{"created":"2024-09-12T15:18:02.701876+10:00","panel_name":"Melanoma","panel_id":3279,"panel_version":"0.14","user_name":"Chirag Patel","item_type":"entity","text":"Mode of pathogenicity for gene: CDK4 was changed from  to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","entity_name":"CDK4","entity_type":"gene"},{"created":"2024-09-12T15:14:09.323965+10:00","panel_name":"Melanoma","panel_id":3279,"panel_version":"0.13","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: POT1 as Amber List (moderate evidence)","entity_name":"POT1","entity_type":"gene"},{"created":"2024-09-12T15:14:09.307038+10:00","panel_name":"Melanoma","panel_id":3279,"panel_version":"0.13","user_name":"Chirag Patel","item_type":"entity","text":"Gene: pot1 has been classified as Amber List (Moderate Evidence).","entity_name":"POT1","entity_type":"gene"},{"created":"2024-09-12T14:51:36.042672+10:00","panel_name":"Gastrointestinal Stromal Tumour","panel_id":4369,"panel_version":"0.16","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: SDHD as Green List (high evidence)","entity_name":"SDHD","entity_type":"gene"},{"created":"2024-09-12T14:51:36.029223+10:00","panel_name":"Gastrointestinal Stromal Tumour","panel_id":4369,"panel_version":"0.16","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":"2024-09-12T14:51:30.470791+10:00","panel_name":"Gastrointestinal Stromal Tumour","panel_id":4369,"panel_version":"0.15","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: SDHC as Green List (high evidence)","entity_name":"SDHC","entity_type":"gene"},{"created":"2024-09-12T14:51:30.444671+10:00","panel_name":"Gastrointestinal Stromal Tumour","panel_id":4369,"panel_version":"0.15","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":"2024-09-12T14:51:23.286014+10:00","panel_name":"Gastrointestinal Stromal Tumour","panel_id":4369,"panel_version":"0.14","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: SDHB as Green List (high evidence)","entity_name":"SDHB","entity_type":"gene"},{"created":"2024-09-12T14:51:23.270949+10:00","panel_name":"Gastrointestinal Stromal Tumour","panel_id":4369,"panel_version":"0.14","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":"2024-09-12T14:51:18.383899+10:00","panel_name":"Gastrointestinal Stromal Tumour","panel_id":4369,"panel_version":"0.13","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: SDHAF2 as Green List (high evidence)","entity_name":"SDHAF2","entity_type":"gene"},{"created":"2024-09-12T14:51:18.373398+10:00","panel_name":"Gastrointestinal Stromal Tumour","panel_id":4369,"panel_version":"0.13","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":"2024-09-12T14:51:12.832281+10:00","panel_name":"Gastrointestinal Stromal Tumour","panel_id":4369,"panel_version":"0.12","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: SDHA as Green List (high evidence)","entity_name":"SDHA","entity_type":"gene"},{"created":"2024-09-12T14:51:12.818792+10:00","panel_name":"Gastrointestinal Stromal Tumour","panel_id":4369,"panel_version":"0.12","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":"2024-09-12T14:51:05.871783+10:00","panel_name":"Gastrointestinal Stromal Tumour","panel_id":4369,"panel_version":"0.11","user_name":"Chirag Patel","item_type":"entity","text":"gene: SDHD was added\ngene: SDHD was added to Gastrointestinal Stromal Tumour. 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 Gastrointestinal stromal tumor, MONDO:0011719; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 1, MIM#168000\nReview for gene: SDHD was set to GREEN\nAdded comment: ClinGen definitive. GIST reported in condition. \nSources: Expert list, Expert Review","entity_name":"SDHD","entity_type":"gene"},{"created":"2024-09-12T14:51:02.844883+10:00","panel_name":"Gastrointestinal Stromal Tumour","panel_id":4369,"panel_version":"0.10","user_name":"Chirag Patel","item_type":"entity","text":"gene: SDHC was added\ngene: SDHC was added to Gastrointestinal Stromal Tumour. 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 Gastrointestinal stromal tumor, MONDO:0011719; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 3, MIM#605373\nReview for gene: SDHC was set to GREEN\nAdded comment: ClinGen definitive. GIST reported in condition. \nSources: Expert list, Expert Review","entity_name":"SDHC","entity_type":"gene"},{"created":"2024-09-12T14:50:59.756598+10:00","panel_name":"Gastrointestinal Stromal Tumour","panel_id":4369,"panel_version":"0.9","user_name":"Chirag Patel","item_type":"entity","text":"gene: SDHB was added\ngene: SDHB was added to Gastrointestinal Stromal Tumour. 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 Gastrointestinal stromal tumor, MONDO:0011719; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 4, MIM#115310\nReview for gene: SDHB was set to GREEN\nAdded comment: ClinGen definitive. GIST reported in condition. \nSources: Expert list, Expert Review","entity_name":"SDHB","entity_type":"gene"},{"created":"2024-09-12T14:50:55.070498+10:00","panel_name":"Gastrointestinal Stromal Tumour","panel_id":4369,"panel_version":"0.8","user_name":"Chirag Patel","item_type":"entity","text":"gene: SDHAF2 was added\ngene: SDHAF2 was added to Gastrointestinal Stromal Tumour. 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 Gastrointestinal stromal tumor, MONDO:0011719; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 2, MIM#601650\nReview for gene: SDHAF2 was set to GREEN\nAdded comment: ClinGen definitive. GIST reported in condition. \nSources: Expert list, Expert Review","entity_name":"SDHAF2","entity_type":"gene"},{"created":"2024-09-12T14:50:50.675113+10:00","panel_name":"Gastrointestinal Stromal Tumour","panel_id":4369,"panel_version":"0.7","user_name":"Chirag Patel","item_type":"entity","text":"gene: SDHA was added\ngene: SDHA was added to Gastrointestinal Stromal Tumour. 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 Gastrointestinal stromal tumor, MONDO:0011719; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 5, MIM#614165\nReview for gene: SDHA was set to GREEN\nAdded comment: ClinGen definitive. GIST reported in condition. \nSources: Expert list, Expert Review","entity_name":"SDHA","entity_type":"gene"},{"created":"2024-09-12T14:22:25.295898+10:00","panel_name":"Gastrointestinal Stromal Tumour","panel_id":4369,"panel_version":"0.6","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: NF1 as Green List (high evidence)","entity_name":"NF1","entity_type":"gene"},{"created":"2024-09-12T14:22:25.277788+10:00","panel_name":"Gastrointestinal Stromal Tumour","panel_id":4369,"panel_version":"0.6","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":"2024-09-12T14:22:19.862567+10:00","panel_name":"Gastrointestinal Stromal Tumour","panel_id":4369,"panel_version":"0.5","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: PDGFRA as Green List (high evidence)","entity_name":"PDGFRA","entity_type":"gene"},{"created":"2024-09-12T14:22:19.817416+10:00","panel_name":"Gastrointestinal Stromal Tumour","panel_id":4369,"panel_version":"0.5","user_name":"Chirag Patel","item_type":"entity","text":"Gene: pdgfra has been classified as Green List (High Evidence).","entity_name":"PDGFRA","entity_type":"gene"},{"created":"2024-09-12T14:22:13.704509+10:00","panel_name":"Gastrointestinal Stromal Tumour","panel_id":4369,"panel_version":"0.4","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: KIT as Green List (high evidence)","entity_name":"KIT","entity_type":"gene"},{"created":"2024-09-12T14:22:13.685541+10:00","panel_name":"Gastrointestinal Stromal Tumour","panel_id":4369,"panel_version":"0.4","user_name":"Chirag Patel","item_type":"entity","text":"Gene: kit has been classified as Green List (High Evidence).","entity_name":"KIT","entity_type":"gene"},{"created":"2024-09-12T14:22:07.981953+10:00","panel_name":"Gastrointestinal Stromal Tumour","panel_id":4369,"panel_version":"0.3","user_name":"Chirag Patel","item_type":"entity","text":"gene: NF1 was added\ngene: NF1 was added to Gastrointestinal Stromal Tumour. 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 Gastrointestinal stromal tumor, MONDO:0011719; Neurofibromatosis type 1, MONDO:0018975; Neurofibromatosis, type 1, MIM#162200\nReview for gene: NF1 was set to GREEN\nAdded comment: ClinGen definitive. GIST reported in condition.\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":"2024-09-12T14:19:13.108864+10:00","panel_name":"Gastrointestinal Stromal Tumour","panel_id":4369,"panel_version":"0.2","user_name":"Chirag Patel","item_type":"entity","text":"gene: PDGFRA was added\ngene: PDGFRA was added to Gastrointestinal Stromal Tumour. Sources: Expert list,Expert Review\nMode of inheritance for gene: PDGFRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PDGFRA were set to Gastrointestinal stromal tumor, MONDO:0011719; Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial, MIM#175510\nMode of pathogenicity for gene: PDGFRA 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: PDGFRA was set to GREEN\nAdded comment: ClinGen definitive. GOF variants. \nSources: Expert list, Expert Review","entity_name":"PDGFRA","entity_type":"gene"},{"created":"2024-09-12T14:18:52.774552+10:00","panel_name":"Gastrointestinal Stromal Tumour","panel_id":4369,"panel_version":"0.1","user_name":"Chirag Patel","item_type":"entity","text":"gene: KIT was added\ngene: KIT was added to Gastrointestinal Stromal Tumour. Sources: Expert list,Expert Review\nMode of inheritance for gene: KIT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KIT were set to Gastrointestinal stromal tumor, MONDO:0011719; Gastrointestinal stromal tumor, familial, MIM#606764\nMode of pathogenicity for gene: KIT 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: KIT was set to GREEN\nAdded comment: ClinGen definitive. GOF variants. \nSources: Expert list, Expert Review","entity_name":"KIT","entity_type":"gene"},{"created":"2024-09-12T14:03:54.226850+10:00","panel_name":"Diffuse Gastric Cancer","panel_id":4368,"panel_version":"0.4","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: CDH1 as Green List (high evidence)","entity_name":"CDH1","entity_type":"gene"},{"created":"2024-09-12T14:03:54.213023+10:00","panel_name":"Diffuse Gastric Cancer","panel_id":4368,"panel_version":"0.4","user_name":"Chirag Patel","item_type":"entity","text":"Gene: cdh1 has been classified as Green List (High Evidence).","entity_name":"CDH1","entity_type":"gene"},{"created":"2024-09-12T14:03:48.865896+10:00","panel_name":"Diffuse Gastric Cancer","panel_id":4368,"panel_version":"0.3","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: CTNNA1 as Green List (high evidence)","entity_name":"CTNNA1","entity_type":"gene"},{"created":"2024-09-12T14:03:48.855076+10:00","panel_name":"Diffuse Gastric Cancer","panel_id":4368,"panel_version":"0.3","user_name":"Chirag Patel","item_type":"entity","text":"Gene: ctnna1 has been classified as Green List (High Evidence).","entity_name":"CTNNA1","entity_type":"gene"},{"created":"2024-09-12T14:03:32.387569+10:00","panel_name":"Diffuse Gastric Cancer","panel_id":4368,"panel_version":"0.2","user_name":"Chirag Patel","item_type":"entity","text":"gene: CTNNA1 was added\ngene: CTNNA1 was added to Diffuse Gastric Cancer. Sources: Expert list,Expert Review\nMode of inheritance for gene: CTNNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CTNNA1 were set to Diffuse gastric cancer, MONDO:0957519; CTNNA1-related diffuse gastric and lobular breast cancer syndrome, MONDO:0100256; no MIM#\nReview for gene: CTNNA1 was set to GREEN\nAdded comment: ClinGen definitive. \nSources: Expert list, Expert Review","entity_name":"CTNNA1","entity_type":"gene"},{"created":"2024-09-12T14:03:24.211876+10:00","panel_name":"Diffuse Gastric Cancer","panel_id":4368,"panel_version":"0.1","user_name":"Chirag Patel","item_type":"entity","text":"gene: CDH1 was added\ngene: CDH1 was added to Diffuse Gastric Cancer. Sources: Expert list,Expert Review\nMode of inheritance for gene: CDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CDH1 were set to Diffuse gastric cancer, MONDO:0957519; CDH1-related diffuse gastric and lobular breast cancer syndrome, MONDO:0100488; Diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate, MIM#137215\nReview for gene: CDH1 was set to GREEN\nAdded comment: ClinGen definitive. \nSources: Expert list, Expert Review","entity_name":"CDH1","entity_type":"gene"},{"created":"2024-09-12T13:45:24.966926+10:00","panel_name":"Melanoma","panel_id":3279,"panel_version":"0.12","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: POT1 as Green List (high evidence)","entity_name":"POT1","entity_type":"gene"},{"created":"2024-09-12T13:45:24.942709+10:00","panel_name":"Melanoma","panel_id":3279,"panel_version":"0.12","user_name":"Chirag Patel","item_type":"entity","text":"Gene: pot1 has been classified as Green List (High Evidence).","entity_name":"POT1","entity_type":"gene"},{"created":"2024-09-12T13:45:18.543879+10:00","panel_name":"Melanoma","panel_id":3279,"panel_version":"0.11","user_name":"Chirag Patel","item_type":"entity","text":"gene: POT1 was added\ngene: POT1 was added to Melanoma. Sources: Expert Review,Literature\nMode of inheritance for gene: POT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: POT1 were set to PMID: 24686849, 30586141, 24686846, 38724174\nPhenotypes for gene: POT1 were set to Melanoma, MONDO:0005105; Tumor predisposition syndrome 3, MONDO:0014368; Melanoma, cutaneous malignant, MIM#606478\nReview for gene: POT1 was set to GREEN\nAdded comment: Tumor predisposition syndrome-3 (TPDS3) is characterised by an increased risk for the development of various types of benign and malignant neoplasms throughout life, with age-dependent penetrance (e.g. neoplasms involving epithelial, mesenchymal, and neuronal tissues, as well as clonal hematopoietic syndromes, including lymphoid and myeloid cancers). \r\n\r\nCutaneous melanoma is the most commonly reported malignancy in individuals with POT1-Tumor predisposition syndrome (increased risk for various benign and malignant neoplasms throughout life, with age-dependent penetrance - neoplasms involving epithelial, mesenchymal, and neuronal tissues, as well as clonal hematopoietic syndromes, including lymphoid and myeloid cancers). Multiple unrelated families reported with melanoma and POT1 variant. \nSources: Expert Review, Literature","entity_name":"POT1","entity_type":"gene"},{"created":"2024-09-12T13:33:56.080400+10:00","panel_name":"Melanoma","panel_id":3279,"panel_version":"0.9","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: CDKN2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Melanoma, MONDO:0005105, Melanoma cutaneous malignant susceptibility to 2, MONDO:0007964, Melanoma-pancreatic cancer syndrome, MONDO:0011713, Melanoma and neural system tumor syndrome, MONDO:0007967, Melanoma, cutaneous malignant, 2, MIM#155601, Melanoma-pancreatic cancer syndrome, MIM#606719, Melanoma and neural system tumor syndrome, MIM#155755; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CDKN2A","entity_type":"gene"},{"created":"2024-09-12T13:33:20.318908+10:00","panel_name":"Melanoma","panel_id":3279,"panel_version":"0.9","user_name":"Chirag Patel","item_type":"entity","text":"Deleted their comment","entity_name":"CDK4","entity_type":"gene"},{"created":"2024-09-12T13:33:10.867865+10:00","panel_name":"Melanoma","panel_id":3279,"panel_version":"0.9","user_name":"Chirag Patel","item_type":"entity","text":"commented on gene: CDK4: ClinGen definitive. GOF variants.","entity_name":"CDK4","entity_type":"gene"},{"created":"2024-09-12T13:32:57.954788+10:00","panel_name":"Melanoma","panel_id":3279,"panel_version":"0.9","user_name":"Chirag Patel","item_type":"entity","text":"changed review comment from: ClinGen definitive.; to: ClinGen definitive. GOF variants.","entity_name":"CDK4","entity_type":"gene"},{"created":"2024-09-12T13:31:37.387726+10:00","panel_name":"Melanoma","panel_id":3279,"panel_version":"0.9","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: CDK4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Melanoma, MONDO:0005105, CDK4 linked melanoma, MONDO:0022623, Melanoma cutaneous malignant susceptibility to 3, MONDO:0012183, Melanoma, cutaneous malignant, 3, MIM#609048; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CDK4","entity_type":"gene"}]}