{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=264","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=262","results":[{"created":"2025-04-23T17:54:38.651474+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.63","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IFT140: Added comment: Four unrelated families reported with biallelic variants and a cranioectrodermal dysplasia phenotype, part of the ciliopathy spectrum.; Changed publications: 22503633, 23418020, 28288023, 28724397, 26216056, 26968735, 34890546, 32007091, 35873489, 37628605; Changed phenotypes: Cystic Kidney Disease, MONDO: 0002473, IFT140-associated, dominant, Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920, Retinitis pigmentosa 80, MIM# 617781, Cranioectodermal dysplasia 5, MIM# 621180","entity_name":"IFT140","entity_type":"gene"},{"created":"2025-04-23T10:45:01.942961+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.126","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: USP25: Rating: AMBER; Mode of pathogenicity: Other; Publications: 38875478; Phenotypes: USP25-related epilepsy (epilepsy MONDO:0005027); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"USP25","entity_type":"gene"},{"created":"2025-04-23T10:44:59.688828+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2479","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"edited their review of gene: USP25: Added comment: This gene-disease association has been DISPUTED by ClinGen Epilepsy GCEP on 01/04/2025 - https://search.clinicalgenome.org/CCID:008786\r\n\r\nClinGen's reason for disuputed classification - \"Case-level data was not considered strong enough to score. Functional data was not consistent among the variants and was difficult to interpret in relationship to a seizure phenotype. The knock-out mouse model did not exhibit spontaneous seizures so was not scored.\"\r\n\r\nDowngrade to Amber due to the uncertainty was agreed within the user group.; Changed rating: AMBER; Changed phenotypes: USP25-related epilepsy (epilepsy MONDO:0005027)","entity_name":"USP25","entity_type":"gene"},{"created":"2025-04-23T09:51:12.154247+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.127","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MEFV as ready","entity_name":"MEFV","entity_type":"gene"},{"created":"2025-04-23T09:51:12.147969+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.127","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mefv has been classified as Green List (High Evidence).","entity_name":"MEFV","entity_type":"gene"},{"created":"2025-04-23T09:51:08.670070+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.127","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MEFV as Green List (high evidence)","entity_name":"MEFV","entity_type":"gene"},{"created":"2025-04-23T09:51:08.660172+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.127","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mefv has been classified as Green List (High Evidence).","entity_name":"MEFV","entity_type":"gene"},{"created":"2025-04-23T09:51:01.005976+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.126","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MEFV was added\ngene: MEFV was added to Additional findings_Adult. Sources: Expert Review\nMode of inheritance for gene: MEFV was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: MEFV were set to Familial Mediterranean fever MIM#134610; Familial Mediterranean fever MIM#249100\nReview for gene: MEFV was set to GREEN\nAdded comment: Diagnosis can be delayed. Treatment with colchicine. Inheritance is generally recessive but a defined list of variants have been shown to cause dominant disease (list available). \nSources: Expert Review","entity_name":"MEFV","entity_type":"gene"},{"created":"2025-04-23T09:47:23.727513+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.125","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FLCN as ready","entity_name":"FLCN","entity_type":"gene"},{"created":"2025-04-23T09:47:23.721452+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.125","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: flcn has been classified as Green List (High Evidence).","entity_name":"FLCN","entity_type":"gene"},{"created":"2025-04-23T09:44:22.186946+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.125","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: JUP as ready","entity_name":"JUP","entity_type":"gene"},{"created":"2025-04-23T09:44:22.177863+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.125","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: jup has been classified as Green List (High Evidence).","entity_name":"JUP","entity_type":"gene"},{"created":"2025-04-23T09:44:16.685246+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.125","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: JUP as Green List (high evidence)","entity_name":"JUP","entity_type":"gene"},{"created":"2025-04-23T09:44:16.678102+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.125","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: jup has been classified as Green List (High Evidence).","entity_name":"JUP","entity_type":"gene"},{"created":"2025-04-23T09:44:08.253662+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.124","user_name":"Zornitza Stark","item_type":"entity","text":"gene: JUP was added\ngene: JUP was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: JUP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: JUP were set to Arrhythmogenic right ventricular dysplasia 12 MIM# 611528; Naxos disease MIM# 601214\nReview for gene: JUP was set to GREEN\nAdded comment: MODERATE actionability by ClinGen.\r\n\r\nCardiology assessment to guide decisions about medical/surgical intervention. \nSources: Expert list","entity_name":"JUP","entity_type":"gene"},{"created":"2025-04-23T09:38:29.799484+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.123","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TECRL as ready","entity_name":"TECRL","entity_type":"gene"},{"created":"2025-04-23T09:38:29.793748+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.123","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tecrl has been classified as Green List (High Evidence).","entity_name":"TECRL","entity_type":"gene"},{"created":"2025-04-23T09:38:26.003620+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.123","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TECRL as Green List (high evidence)","entity_name":"TECRL","entity_type":"gene"},{"created":"2025-04-23T09:38:25.997163+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.123","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tecrl has been classified as Green List (High Evidence).","entity_name":"TECRL","entity_type":"gene"},{"created":"2025-04-23T09:38:18.699617+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.122","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TECRL was added\ngene: TECRL was added to Additional findings_Adult. Sources: Expert Review\nMode of inheritance for gene: TECRL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TECRL were set to Ventricular tachycardia, catecholaminergic polymorphic, 3, MIM# 614021\nReview for gene: TECRL was set to GREEN\nAdded comment: STRONG actionability by ClinGen in adults.\r\n\r\nCardiology surveillance with consideration of medical and surgical treatment (beta blockers and ICD). \nSources: Expert Review","entity_name":"TECRL","entity_type":"gene"},{"created":"2025-04-23T09:32:37.734376+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.121","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CALM3 as ready","entity_name":"CALM3","entity_type":"gene"},{"created":"2025-04-23T09:32:37.726550+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.121","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: calm3 has been classified as Green List (High Evidence).","entity_name":"CALM3","entity_type":"gene"},{"created":"2025-04-23T09:31:05.474548+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.121","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CALM3 as Green List (high evidence)","entity_name":"CALM3","entity_type":"gene"},{"created":"2025-04-23T09:31:05.468583+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.121","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: calm3 has been classified as Green List (High Evidence).","entity_name":"CALM3","entity_type":"gene"},{"created":"2025-04-23T09:30:57.774519+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.120","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CALM3 was added\ngene: CALM3 was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: CALM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CALM3 were set to Ventricular tachycardia, catecholaminergic polymorphic 6, MIM# 618782; Long QT syndrome 16, MIM# 618782\nReview for gene: CALM3 was set to GREEN\nAdded comment: MODERATE actionability in adults by ClinGen.\r\n\r\nCardiology surveillance and consideration of medical and surgical treatment (beta blockers and ICD for CPVT). \nSources: Expert list","entity_name":"CALM3","entity_type":"gene"},{"created":"2025-04-23T09:29:17.347733+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.119","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CALM2 as ready","entity_name":"CALM2","entity_type":"gene"},{"created":"2025-04-23T09:29:17.341861+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.119","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: calm2 has been classified as Green List (High Evidence).","entity_name":"CALM2","entity_type":"gene"},{"created":"2025-04-23T09:29:06.507044+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.119","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CALM2 as Green List (high evidence)","entity_name":"CALM2","entity_type":"gene"},{"created":"2025-04-23T09:29:06.495373+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.119","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: calm2 has been classified as Green List (High Evidence).","entity_name":"CALM2","entity_type":"gene"},{"created":"2025-04-23T09:28:58.207082+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.118","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CALM2 was added\ngene: CALM2 was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: CALM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CALM2 were set to Catecholaminergic polymorphic ventricular tachycardia MONDO:0017990; Long QT syndrome 15 616249\nReview for gene: CALM2 was set to GREEN\nAdded comment: MODERATE actionability by ClinGen.\r\n\r\nCardiac surveillance with consideration for medical and surgical treatment (beta blockers, ICD for CPVT). \nSources: Expert list","entity_name":"CALM2","entity_type":"gene"},{"created":"2025-04-23T09:27:32.486024+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.117","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: MODERATE actionability by ClinGen in adults.\r\n\r\nCardiac surveillance recommended with consideration for medical and if required, surgical intervention (beta-blockers, ICD). \nSources: Expert list; to: MODERATE actionability by ClinGen in adults.\r\n\r\nCardiac surveillance recommended with consideration for medical and if required, surgical intervention (beta-blockers, ICD for CPVT). \r\nSources: Expert list","entity_name":"CALM1","entity_type":"gene"},{"created":"2025-04-23T09:27:18.145123+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.117","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CALM1 as ready","entity_name":"CALM1","entity_type":"gene"},{"created":"2025-04-23T09:27:18.139695+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.117","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: calm1 has been classified as Green List (High Evidence).","entity_name":"CALM1","entity_type":"gene"},{"created":"2025-04-23T09:27:12.201531+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.117","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CALM1 as Green List (high evidence)","entity_name":"CALM1","entity_type":"gene"},{"created":"2025-04-23T09:27:12.195357+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.117","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: calm1 has been classified as Green List (High Evidence).","entity_name":"CALM1","entity_type":"gene"},{"created":"2025-04-23T09:27:05.100258+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.116","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CALM1 was added\ngene: CALM1 was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: CALM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CALM1 were set to Ventricular tachycardia, catecholaminergic polymorphic, 4 614916; Long QT syndrome 14, MIM# 616247\nReview for gene: CALM1 was set to GREEN\nAdded comment: MODERATE actionability by ClinGen in adults.\r\n\r\nCardiac surveillance recommended with consideration for medical and if required, surgical intervention (beta-blockers, ICD). \nSources: Expert list","entity_name":"CALM1","entity_type":"gene"},{"created":"2025-04-23T09:21:03.186832+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.115","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRKAR1A as ready","entity_name":"PRKAR1A","entity_type":"gene"},{"created":"2025-04-23T09:21:03.180815+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.115","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prkar1a has been classified as Green List (High Evidence).","entity_name":"PRKAR1A","entity_type":"gene"},{"created":"2025-04-23T09:20:58.908188+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.115","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRKAR1A as Green List (high evidence)","entity_name":"PRKAR1A","entity_type":"gene"},{"created":"2025-04-23T09:20:58.901776+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.115","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prkar1a has been classified as Green List (High Evidence).","entity_name":"PRKAR1A","entity_type":"gene"},{"created":"2025-04-23T09:20:50.174848+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.114","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PRKAR1A was added\ngene: PRKAR1A was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PRKAR1A were set to Carney complex, type 1, MIM# 160980\nReview for gene: PRKAR1A was set to GREEN\nAdded comment: MODERATE actionability by ClinGen in adults.\r\n\r\nRisk of sudden death due to cardiac myxomas -- surveillance warranted to facilitate timely excision. Surveillance for testicular tumors, acromegaly, and thyroid lesions is also recommended. \nSources: Expert list","entity_name":"PRKAR1A","entity_type":"gene"},{"created":"2025-04-23T09:15:56.456053+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.113","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLX4 as ready","entity_name":"SLX4","entity_type":"gene"},{"created":"2025-04-23T09:15:56.449473+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.113","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slx4 has been classified as Green List (High Evidence).","entity_name":"SLX4","entity_type":"gene"},{"created":"2025-04-23T09:15:52.192306+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.113","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLX4 as Green List (high evidence)","entity_name":"SLX4","entity_type":"gene"},{"created":"2025-04-23T09:15:52.186247+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.113","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slx4 has been classified as Green List (High Evidence).","entity_name":"SLX4","entity_type":"gene"},{"created":"2025-04-23T09:15:39.619128+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.112","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLX4 was added\ngene: SLX4 was added to Additional findings_Adult. Sources: Expert Review\nMode of inheritance for gene: SLX4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLX4 were set to Fanconi anaemia, complementation group P, MIM# 613951\nReview for gene: SLX4 was set to GREEN\nAdded comment: Other FA genes assessed as MODERATE actionability by ClinGen, SLX4 included for completeness.\r\n\r\nIn the absence of congenital anomalies, can present in adulthood with BMF and surveillance by haematologist is warranted to optimise timing of BMT. \nSources: Expert Review","entity_name":"SLX4","entity_type":"gene"},{"created":"2025-04-23T09:12:43.320795+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.111","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RAD51C as ready","entity_name":"RAD51C","entity_type":"gene"},{"created":"2025-04-23T09:12:43.311208+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.111","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rad51c has been classified as Green List (High Evidence).","entity_name":"RAD51C","entity_type":"gene"},{"created":"2025-04-23T09:12:38.434773+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.111","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAD51C were changed from Fanconi anemia, complementation group O, MIM# 613390 to Fanconi anaemia, complementation group O, MIM# 613390","entity_name":"RAD51C","entity_type":"gene"},{"created":"2025-04-23T09:12:29.068834+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.110","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RAD51C as Green List (high evidence)","entity_name":"RAD51C","entity_type":"gene"},{"created":"2025-04-23T09:12:29.062848+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.110","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rad51c has been classified as Green List (High Evidence).","entity_name":"RAD51C","entity_type":"gene"},{"created":"2025-04-23T09:12:18.111546+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.109","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RAD51C was added\ngene: RAD51C was added to Additional findings_Adult. Sources: Expert Review\nMode of inheritance for gene: RAD51C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAD51C were set to Fanconi anemia, complementation group O, MIM# 613390\nReview for gene: RAD51C was set to GREEN\nAdded comment: Other FA genes assessed as MODERATE actionability by ClinGen, RAD51C included for completeness.\r\n\r\nIn the absence of congenital anomalies, can present in adulthood with BMF and surveillance by haematologist is warranted to optimise timing of BMT. \nSources: Expert Review","entity_name":"RAD51C","entity_type":"gene"},{"created":"2025-04-23T09:08:57.318379+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.108","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FANCL as ready","entity_name":"FANCL","entity_type":"gene"},{"created":"2025-04-23T09:08:57.308900+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.108","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fancl has been classified as Green List (High Evidence).","entity_name":"FANCL","entity_type":"gene"},{"created":"2025-04-23T09:08:50.176062+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.108","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FANCL as Green List (high evidence)","entity_name":"FANCL","entity_type":"gene"},{"created":"2025-04-23T09:08:50.168677+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.108","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fancl has been classified as Green List (High Evidence).","entity_name":"FANCL","entity_type":"gene"},{"created":"2025-04-23T09:08:43.163006+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.107","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FANCL was added\ngene: FANCL was added to Additional findings_Adult. Sources: Expert Review\nMode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FANCL were set to Fanconi anaemia, complementation group L, MIM# 614083\nReview for gene: FANCL was set to GREEN\nAdded comment: Other FA genes assessed as MODERATE actionability by ClinGen, FANCL included for completeness.\r\n\r\nIn the absence of congenital anomalies, can present in adulthood with BMF and surveillance by haematologist is warranted to optimise timing of BMT. \nSources: Expert Review","entity_name":"FANCL","entity_type":"gene"},{"created":"2025-04-23T09:06:53.194541+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.106","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FANCI as ready","entity_name":"FANCI","entity_type":"gene"},{"created":"2025-04-23T09:06:53.188366+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.106","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fanci has been classified as Green List (High Evidence).","entity_name":"FANCI","entity_type":"gene"},{"created":"2025-04-23T09:06:51.594614+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.106","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FANCI were changed from Fanconi anemia, complementation group I, MIM# 609053 to Fanconi anaemia, complementation group I, MIM# 609053","entity_name":"FANCI","entity_type":"gene"},{"created":"2025-04-23T09:06:36.981993+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.105","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FANCI as Green List (high evidence)","entity_name":"FANCI","entity_type":"gene"},{"created":"2025-04-23T09:06:36.975039+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.105","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fanci has been classified as Green List (High Evidence).","entity_name":"FANCI","entity_type":"gene"},{"created":"2025-04-23T09:06:29.737935+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.104","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FANCI was added\ngene: FANCI was added to Additional findings_Adult. Sources: Expert Review\nMode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FANCI were set to Fanconi anemia, complementation group I, MIM# 609053\nReview for gene: FANCI was set to GREEN\nAdded comment: Other FA genes assessed as MODERATE actionability by ClinGen; FANCI included for completeness.\r\n\r\nIn the absence of congenital anomalies, can present in adulthood with BMF and surveillance by haematologist is warranted to optimise timing of BMT. \nSources: Expert Review","entity_name":"FANCI","entity_type":"gene"},{"created":"2025-04-23T09:01:21.221100+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.103","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FANCF as ready","entity_name":"FANCF","entity_type":"gene"},{"created":"2025-04-23T09:01:21.214968+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.103","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fancf has been classified as Green List (High Evidence).","entity_name":"FANCF","entity_type":"gene"},{"created":"2025-04-23T09:01:17.857922+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.103","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FANCF as Green List (high evidence)","entity_name":"FANCF","entity_type":"gene"},{"created":"2025-04-23T09:01:17.848248+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.103","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fancf has been classified as Green List (High Evidence).","entity_name":"FANCF","entity_type":"gene"},{"created":"2025-04-23T09:01:10.440191+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.102","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FANCF was added\ngene: FANCF was added to Additional findings_Adult. Sources: Expert Review\nMode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FANCF were set to Fanconi anaemia, complementation group F 603467\nReview for gene: FANCF was set to GREEN\nAdded comment: Other FA genes assessed as MODERATE actionability by ClinGen, FANCF included for completeness.\r\n\r\nIn the absence of congenital anomalies, can present in adulthood with BMF and surveillance by a haematologist is warranted to optimise timing of BMT. \nSources: Expert Review","entity_name":"FANCF","entity_type":"gene"},{"created":"2025-04-23T08:58:20.787529+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.101","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FANCE as ready","entity_name":"FANCE","entity_type":"gene"},{"created":"2025-04-23T08:58:20.781473+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.101","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fance has been classified as Green List (High Evidence).","entity_name":"FANCE","entity_type":"gene"},{"created":"2025-04-23T08:58:17.477987+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.101","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FANCE as Green List (high evidence)","entity_name":"FANCE","entity_type":"gene"},{"created":"2025-04-23T08:58:17.471712+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.101","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fance has been classified as Green List (High Evidence).","entity_name":"FANCE","entity_type":"gene"},{"created":"2025-04-23T08:58:07.769978+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.100","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FANCE was added\ngene: FANCE was added to Additional findings_Adult. Sources: Expert Review\nMode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FANCE were set to Fanconi anaemia, complementation group E, MIM# 600901\nReview for gene: FANCE was set to GREEN\nAdded comment: Other FA genes assessed as MODERATE actionability by ClinGen, FANCE included for completeness.\r\n\r\nIn the absence of congenital anomalies, can present in adulthood with BMF and surveillance by a haematologist is warranted to optimise timing of BMT. \nSources: Expert Review","entity_name":"FANCE","entity_type":"gene"},{"created":"2025-04-23T08:56:35.798631+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.99","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FANCD2 as ready","entity_name":"FANCD2","entity_type":"gene"},{"created":"2025-04-23T08:56:35.792479+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.99","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fancd2 has been classified as Green List (High Evidence).","entity_name":"FANCD2","entity_type":"gene"},{"created":"2025-04-23T08:56:32.778500+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.99","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FANCD2 as Green List (high evidence)","entity_name":"FANCD2","entity_type":"gene"},{"created":"2025-04-23T08:56:32.771588+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.99","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fancd2 has been classified as Green List (High Evidence).","entity_name":"FANCD2","entity_type":"gene"},{"created":"2025-04-23T08:56:25.564042+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.98","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FANCD2 was added\ngene: FANCD2 was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FANCD2 were set to Fanconi anaemia, complementation group D2, MIM# 227646\nReview for gene: FANCD2 was set to GREEN\nAdded comment: Other FA genes assessed as MODERATE actionability by ClinGen, FANCD2 included for completeness.\r\n\r\nIn the absence of congenital anomalies, can present in adulthood with BMF and surveillance by a haematologist is warranted to optimise timing of BMT. \nSources: Expert list","entity_name":"FANCD2","entity_type":"gene"},{"created":"2025-04-23T08:54:26.239902+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.97","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FANCB as ready","entity_name":"FANCB","entity_type":"gene"},{"created":"2025-04-23T08:54:26.226214+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.97","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fancb has been classified as Green List (High Evidence).","entity_name":"FANCB","entity_type":"gene"},{"created":"2025-04-23T08:54:22.560529+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.97","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FANCB as Green List (high evidence)","entity_name":"FANCB","entity_type":"gene"},{"created":"2025-04-23T08:54:22.550982+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.97","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fancb has been classified as Green List (High Evidence).","entity_name":"FANCB","entity_type":"gene"},{"created":"2025-04-23T08:54:15.118446+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.96","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FANCB was added\ngene: FANCB was added to Additional findings_Adult. Sources: Expert Review\nMode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: FANCB were set to Fanconi anaemia, complementation group B, MIM# 300514\nReview for gene: FANCB was set to GREEN\nAdded comment: Other FA genes assessed as MODERATE actionability by ClinGen, FANCB included for completeness.\r\n\r\nIn the absence of congenital anomalies, FA can present with BMF and surveillance by haematologist is warranted to optimise timing of BMT. \nSources: Expert Review","entity_name":"FANCB","entity_type":"gene"},{"created":"2025-04-23T08:52:30.455366+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.95","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ERCC4 as ready","entity_name":"ERCC4","entity_type":"gene"},{"created":"2025-04-23T08:52:30.448549+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.95","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ercc4 has been classified as Green List (High Evidence).","entity_name":"ERCC4","entity_type":"gene"},{"created":"2025-04-23T08:52:26.995413+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.95","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ERCC4 as Green List (high evidence)","entity_name":"ERCC4","entity_type":"gene"},{"created":"2025-04-23T08:52:26.988085+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.95","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ercc4 has been classified as Green List (High Evidence).","entity_name":"ERCC4","entity_type":"gene"},{"created":"2025-04-23T08:52:19.809721+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.94","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ERCC4 was added\ngene: ERCC4 was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ERCC4 were set to Fanconi anaemia, complementation group Q, MIM# 615272\nReview for gene: ERCC4 was set to GREEN\nAdded comment: Other FA genes assessed as MODERATE actionability by ClinGen, ERCC4 included for completeness.\r\n\r\nIn the absence of congenital anomalies, can present in adulthood with BMF and surveillance by haematologist is warranted to optimise timing of BMT. \nSources: Expert list","entity_name":"ERCC4","entity_type":"gene"},{"created":"2025-04-23T08:49:42.769942+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.93","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BRCA1 were changed from Breast-ovarian cancer, familial, 1, MIM# 604370 to Breast-ovarian cancer, familial, 1, MIM# 604370; Fanconi anaemia, complementation group S, MIM# 617883","entity_name":"BRCA1","entity_type":"gene"},{"created":"2025-04-23T08:49:33.735697+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.92","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BRCA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"BRCA1","entity_type":"gene"},{"created":"2025-04-23T08:49:24.167981+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.91","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: BRCA1: Added comment: Association between biallelic variants and FA: other FA genes assessed as MODERATE actionability by ClinGen. BRCA1 included for completeness.\r\n\r\nIn the absence of congenital anomalies, can present in adulthood with BMF and surveillance by a haematologist is warranted to optimise timing of BMT.; Changed phenotypes: Breast-ovarian cancer, familial, 1, MIM# 604370, Fanconi anaemia, complementation group S, MIM# 617883; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"BRCA1","entity_type":"gene"},{"created":"2025-04-23T08:47:11.403552+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.91","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PALB2 were changed from {Breast cancer, susceptibility to}\t114480 to {Breast cancer, susceptibility to} 114480; Fanconi anaemia, complementation group N, MIM# 610832","entity_name":"PALB2","entity_type":"gene"},{"created":"2025-04-23T08:47:02.000021+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.90","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PALB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PALB2","entity_type":"gene"},{"created":"2025-04-23T08:46:52.613357+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.89","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PALB2: Added comment: Association between biallelic variants and FA: MODERATE actionability by ClinGen.\r\n\r\nIn the absence of congenital anomalies, presentation can be in adulthood with BMF and surveillance by haematologist is warranted to optimise timing of BMT.; Changed phenotypes: {Breast cancer, susceptibility to} 114480, Fanconi anaemia, complementation group N, MIM# 610832; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PALB2","entity_type":"gene"},{"created":"2025-04-23T08:45:13.506145+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.89","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FANCC as ready","entity_name":"FANCC","entity_type":"gene"},{"created":"2025-04-23T08:45:13.494940+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.89","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fancc has been classified as Green List (High Evidence).","entity_name":"FANCC","entity_type":"gene"},{"created":"2025-04-23T08:45:10.846476+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.89","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FANCC as Green List (high evidence)","entity_name":"FANCC","entity_type":"gene"},{"created":"2025-04-23T08:45:10.840039+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.89","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fancc has been classified as Green List (High Evidence).","entity_name":"FANCC","entity_type":"gene"},{"created":"2025-04-23T08:45:04.227312+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.88","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FANCC was added\ngene: FANCC was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FANCC were set to Fanconi anemia, complementation group C, MIM# 227645\nReview for gene: FANCC was set to GREEN\nAdded comment: MODERATE actionability by ClinGen.\r\n\r\nIn the absence of congenital anomalies, presentation can be with BMF in adulthood and surveillance by haematologist is warranted to optimise timing of BMT. \nSources: Expert list","entity_name":"FANCC","entity_type":"gene"},{"created":"2025-04-23T08:43:29.821179+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.87","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BRIP1 as ready","entity_name":"BRIP1","entity_type":"gene"}]}