{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=265","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=263","results":[{"created":"2025-04-23T08:43:29.814351+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.87","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: brip1 has been classified as Green List (High Evidence).","entity_name":"BRIP1","entity_type":"gene"},{"created":"2025-04-23T08:43:26.423559+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.87","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BRIP1 as Green List (high evidence)","entity_name":"BRIP1","entity_type":"gene"},{"created":"2025-04-23T08:43:26.416648+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.87","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: brip1 has been classified as Green List (High Evidence).","entity_name":"BRIP1","entity_type":"gene"},{"created":"2025-04-23T08:43:18.648833+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.86","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BRIP1 was added\ngene: BRIP1 was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: BRIP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BRIP1 were set to Fanconi anaemia, complementation group J, MIM# 609054\nReview for gene: BRIP1 was set to GREEN\nAdded comment: 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. \nSources: Expert list","entity_name":"BRIP1","entity_type":"gene"},{"created":"2025-04-23T08:41:50.405468+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.85","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FANCG as ready","entity_name":"FANCG","entity_type":"gene"},{"created":"2025-04-23T08:41:50.399293+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.85","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fancg has been classified as Green List (High Evidence).","entity_name":"FANCG","entity_type":"gene"},{"created":"2025-04-23T08:41:47.041966+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.85","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FANCG as Green List (high evidence)","entity_name":"FANCG","entity_type":"gene"},{"created":"2025-04-23T08:41:47.035343+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.85","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fancg has been classified as Green List (High Evidence).","entity_name":"FANCG","entity_type":"gene"},{"created":"2025-04-23T08:41:39.841281+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.84","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FANCG was added\ngene: FANCG was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FANCG were set to Fanconi anaemia, complementation group G, MIM# 614082\nReview for gene: FANCG was set to GREEN\nAdded comment: MODERATE actionability by ClinGen.\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":"FANCG","entity_type":"gene"},{"created":"2025-04-23T08:40:12.876389+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.83","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FANCA as ready","entity_name":"FANCA","entity_type":"gene"},{"created":"2025-04-23T08:40:12.866529+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.83","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fanca has been classified as Green List (High Evidence).","entity_name":"FANCA","entity_type":"gene"},{"created":"2025-04-23T08:40:08.977722+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.83","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FANCA as Green List (high evidence)","entity_name":"FANCA","entity_type":"gene"},{"created":"2025-04-23T08:40:08.968488+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.83","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fanca has been classified as Green List (High Evidence).","entity_name":"FANCA","entity_type":"gene"},{"created":"2025-04-23T08:40:02.399851+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.82","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FANCA was added\ngene: FANCA was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FANCA were set to Fanconi anaemia, complementation group A, MIM# 227650\nReview for gene: FANCA 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":"FANCA","entity_type":"gene"},{"created":"2025-04-23T08:38:29.390775+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.81","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BRCA2 were changed from Breast-ovarian cancer, familial, 2, MIM#612555 to Breast-ovarian cancer, familial, 2, MIM#612555; Fanconi anaemia, complementation group D1, MIM# 605724","entity_name":"BRCA2","entity_type":"gene"},{"created":"2025-04-23T08:38:18.915707+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.80","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BRCA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"BRCA2","entity_type":"gene"},{"created":"2025-04-23T08:38:08.619108+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.79","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: BRCA2: Added comment: Association between biallelic variants and FA: MODERATE actionability by ClinGen.\r\n\r\nIn the absence of congenital anomalies can present with BMF in adulthood and surveillance by haematologist is warranted to optimise timing of BMT.; Changed phenotypes: Breast-ovarian cancer, familial, 2, MIM#612555, Fanconi anaemia, complementation group D1, MIM# 605724; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"BRCA2","entity_type":"gene"},{"created":"2025-04-23T04:18:19.294481+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2479","user_name":"Achchuthan Shanmugasundram","item_type":"entity","text":"gene: FOXM1 was added\ngene: FOXM1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FOXM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: FOXM1 were set to 38969938\nPhenotypes for gene: FOXM1 were set to Moyamoya disease, MONDO:0016820\nReview for gene: FOXM1 was set to AMBER\nAdded comment: PMID:38969938 reported a 60-year-old father and 31-year-old daughter with unilateral Moyamoya Disease and with c.1205 C > A variant in FOXM1 gene (p.(Ala402Glu). There is also functional evidence available for the identified variant from the publication. This gene should be rated amber with current evidence. \nSources: Literature","entity_name":"FOXM1","entity_type":"gene"},{"created":"2025-04-22T20:15:07.076005+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.79","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ITGA2B as ready","entity_name":"ITGA2B","entity_type":"gene"},{"created":"2025-04-22T20:15:07.066740+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.79","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: itga2b has been classified as Green List (High Evidence).","entity_name":"ITGA2B","entity_type":"gene"},{"created":"2025-04-22T20:15:03.523444+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.79","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ITGA2B as Green List (high evidence)","entity_name":"ITGA2B","entity_type":"gene"},{"created":"2025-04-22T20:15:03.513744+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.79","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: itga2b has been classified as Green List (High Evidence).","entity_name":"ITGA2B","entity_type":"gene"},{"created":"2025-04-22T20:14:55.561256+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.78","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ITGA2B was added\ngene: ITGA2B was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: ITGA2B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ITGA2B were set to Glanzmann thrombasthaenia 1, MIM# 273800\nReview for gene: ITGA2B was set to GREEN\nAdded comment: STRONG actionability by ClinGen.\r\n\r\nGT is a moderate to severe haemorrhagic disorder characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma or surgical procedures due to defective platelet aggregation. Purpura, easy bruising, epistaxis, gingival bleeding and menorrhagia are the most common clinical features. Presentation is typically in infancy but severity can be variable.\r\n\r\nA range of treatments available depending on severity as guided by specialist haematological services. \nSources: Expert list","entity_name":"ITGA2B","entity_type":"gene"},{"created":"2025-04-22T20:13:45.409802+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.77","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ITGB3 as ready","entity_name":"ITGB3","entity_type":"gene"},{"created":"2025-04-22T20:13:45.400168+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.77","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: itgb3 has been classified as Green List (High Evidence).","entity_name":"ITGB3","entity_type":"gene"},{"created":"2025-04-22T20:13:42.903174+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.77","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ITGB3 as Green List (high evidence)","entity_name":"ITGB3","entity_type":"gene"},{"created":"2025-04-22T20:13:42.896472+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.77","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: itgb3 has been classified as Green List (High Evidence).","entity_name":"ITGB3","entity_type":"gene"},{"created":"2025-04-22T20:13:34.562966+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.76","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ITGB3 was added\ngene: ITGB3 was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: ITGB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ITGB3 were set to Bleeding disorder, platelet-type, 24, MIM#619271\nReview for gene: ITGB3 was set to GREEN\nAdded comment: STRONG actionability by ClinGen.\r\n\r\nGT is a moderate to severe haemorrhagic disorder characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma or surgical procedures due to defective platelet aggregation. Purpura, easy bruising, epistaxis, gingival bleeding and menorrhagia are the most common clinical features. Presentation is typically in infancy but severity can be variable.\r\n\r\nA range of treatments available depending on severity as guided by specialist haematological services. \nSources: Expert list","entity_name":"ITGB3","entity_type":"gene"},{"created":"2025-04-22T20:09:38.668909+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.75","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OAT as ready","entity_name":"OAT","entity_type":"gene"},{"created":"2025-04-22T20:09:38.663003+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.75","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: oat has been classified as Green List (High Evidence).","entity_name":"OAT","entity_type":"gene"},{"created":"2025-04-22T20:09:35.454196+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.75","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: OAT as Green List (high evidence)","entity_name":"OAT","entity_type":"gene"},{"created":"2025-04-22T20:09:35.447364+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.75","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: oat has been classified as Green List (High Evidence).","entity_name":"OAT","entity_type":"gene"},{"created":"2025-04-22T20:09:28.174368+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.74","user_name":"Zornitza Stark","item_type":"entity","text":"gene: OAT was added\ngene: OAT was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: OAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OAT were set to Gyrate atrophy of choroid and retina with or without ornithinemia MIM#258870\nReview for gene: OAT was set to GREEN\nAdded comment: MODERATE actionability by ClinGen.\r\n\r\nThe condition is characterized by the development of chorioretinal atrophic patches that start in the mid-peripheral retina in the first decade of life. Myopia, night blindness, changes in the macula (including cystic changes), and visual field affection usually start in the first or second decade. Most patients with GA have posterior subcapsular cataracts by the end of the second decade. Irreversible loss of vision and blindness generally occurs between 40 and 55 years of age but is highly variable. \r\n\r\nTreatment of GA consists mainly of dietary modifications to help lower elevated systemic ornithine levels. Restriction of dietary arginine, a precursor of ornithine, appears to have therapeutic value. \nSources: Expert list","entity_name":"OAT","entity_type":"gene"},{"created":"2025-04-22T20:07:06.556048+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.73","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PHYH as ready","entity_name":"PHYH","entity_type":"gene"},{"created":"2025-04-22T20:07:06.549611+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.73","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: phyh has been classified as Green List (High Evidence).","entity_name":"PHYH","entity_type":"gene"},{"created":"2025-04-22T20:07:02.920303+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.73","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PHYH as Green List (high evidence)","entity_name":"PHYH","entity_type":"gene"},{"created":"2025-04-22T20:07:02.913716+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.73","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: phyh has been classified as Green List (High Evidence).","entity_name":"PHYH","entity_type":"gene"},{"created":"2025-04-22T20:06:55.148603+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.72","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PHYH was added\ngene: PHYH was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PHYH were set to Refsum disease, MIM# 266500\nReview for gene: PHYH was set to GREEN\nAdded comment: MODERATE actionability by ClinGen.\r\n\r\nAdult forms described. RD is clinically characterized by anosmia (absence of smell) and early-onset retinitis pigmentosa (RP), which are both universal findings with variable combinations of peripheral neuropathy, cerebellar ataxia, deafness, ichthyosis, and short metatarsals and metacarpals. \r\n\r\nTreatment for many manifestations of RD are supportive: hydrating creams for ichthyosis, drugs for cardiac arrhythmias and cardiomyopathy, cataract surgery, and implantation of cochlear implants.\r\n\r\nThe standard therapy for prevention of primary manifestations is to lower plasma phytanic acid (PA) levels by dietary restriction of PA. For acute care or when diet is not sufficient, PA may be eliminated by plasmapheresis or lipid apheresis. These therapies have been found to reduce plasma PA concentrations by 50-70%, and possibly stabilize or improve symptoms of ichthyosis, sensory neuropathy, ataxia, improve cardiac arrhythmia, and extreme weakness. It is uncertain whether either treatment affects the progression of the anosmia, deafness, or RP and other ocular outcomes. \nSources: Expert list","entity_name":"PHYH","entity_type":"gene"},{"created":"2025-04-22T20:03:35.379324+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.71","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIK3R1 as ready","entity_name":"PIK3R1","entity_type":"gene"},{"created":"2025-04-22T20:03:35.372677+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.71","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pik3r1 has been classified as Green List (High Evidence).","entity_name":"PIK3R1","entity_type":"gene"},{"created":"2025-04-22T20:02:52.722201+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.71","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PIK3R1 as Green List (high evidence)","entity_name":"PIK3R1","entity_type":"gene"},{"created":"2025-04-22T20:02:52.715046+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.71","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pik3r1 has been classified as Green List (High Evidence).","entity_name":"PIK3R1","entity_type":"gene"},{"created":"2025-04-22T20:02:39.029522+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.70","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PIK3R1 was added\ngene: PIK3R1 was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: PIK3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PIK3R1 were set to SHORT syndrome, MIM# 269880\nReview for gene: PIK3R1 was set to GREEN\nAdded comment: MODERATE actionability in adults by ClinGen.\r\n\r\nMany features manifest in infancy/childhood but diagnosis may be delayed. Insulin resistance has a highly variable age at diagnosis ranging from 7-49 years. Though insulin resistance may be evident in mid-childhood or adolescence, diabetes mellitus typically does not develop until early adulthood. \nSources: Expert list","entity_name":"PIK3R1","entity_type":"gene"},{"created":"2025-04-22T19:59:11.522114+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.69","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CPT2 as ready","entity_name":"CPT2","entity_type":"gene"},{"created":"2025-04-22T19:59:11.515875+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.69","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cpt2 has been classified as Green List (High Evidence).","entity_name":"CPT2","entity_type":"gene"},{"created":"2025-04-22T19:59:07.900059+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.69","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CPT2 as Green List (high evidence)","entity_name":"CPT2","entity_type":"gene"},{"created":"2025-04-22T19:59:07.893479+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.69","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cpt2 has been classified as Green List (High Evidence).","entity_name":"CPT2","entity_type":"gene"},{"created":"2025-04-22T19:58:59.685691+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.68","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CPT2 was added\ngene: CPT2 was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CPT2 were set to CPT II deficiency, myopathic, stress-induced, MIM# 255110\nReview for gene: CPT2 was set to GREEN\nAdded comment: Variable age of onset and severity. Adult form tends to be myopathic.\r\n\r\nThe recommendation for treatment of CPT II deficiency is to follow current treatment for long-chain FAO disorders:\r\n- Reduce the amount of long-chain dietary fat (<20%) while covering the need for essential fatty acids\r\n- Provide carnitine to convert potentially toxic long-chain acyl-CoAs to acylcarnitines\r\n- Provide a large fraction of calories as carbohydrates (70%) to reduce body fat utilization and prevent hypoglycaemia\r\n- Provide approximately one third of calories as even-chain medium chain triglycerides (MCT) \nSources: Expert list","entity_name":"CPT2","entity_type":"gene"},{"created":"2025-04-22T19:55:05.037605+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.67","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: F7 as ready","entity_name":"F7","entity_type":"gene"},{"created":"2025-04-22T19:55:05.030751+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.67","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: f7 has been classified as Green List (High Evidence).","entity_name":"F7","entity_type":"gene"},{"created":"2025-04-22T19:55:01.292098+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.67","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: F7 as Green List (high evidence)","entity_name":"F7","entity_type":"gene"},{"created":"2025-04-22T19:55:01.284781+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.67","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: f7 has been classified as Green List (High Evidence).","entity_name":"F7","entity_type":"gene"},{"created":"2025-04-22T19:54:53.878609+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.66","user_name":"Zornitza Stark","item_type":"entity","text":"gene: F7 was added\ngene: F7 was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: F7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: F7 were set to Factor VII deficiency, MIM# 227500\nReview for gene: F7 was set to GREEN\nAdded comment: STRONG actionability by ClinGen.\r\n\r\nMeasurement of Factor VII levels available and guide management. Therapeutic options include administration of recombinant activated factor VII (rFVIIa), or plasma derived FVII concentrate (if rFVIIa is not available) and through use of antifibrinolytic agents (such as tranexamic acid). \nSources: Expert list","entity_name":"F7","entity_type":"gene"},{"created":"2025-04-22T19:51:42.540428+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.65","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RUNX1 as ready","entity_name":"RUNX1","entity_type":"gene"},{"created":"2025-04-22T19:51:42.533792+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.65","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: runx1 has been classified as Green List (High Evidence).","entity_name":"RUNX1","entity_type":"gene"},{"created":"2025-04-22T19:51:38.598357+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.65","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RUNX1 as Green List (high evidence)","entity_name":"RUNX1","entity_type":"gene"},{"created":"2025-04-22T19:51:38.588968+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.65","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: runx1 has been classified as Green List (High Evidence).","entity_name":"RUNX1","entity_type":"gene"},{"created":"2025-04-22T19:51:29.779738+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.64","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RUNX1 was added\ngene: RUNX1 was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: RUNX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RUNX1 were set to Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399\nReview for gene: RUNX1 was set to GREEN\nAdded comment: MODERATE actionability in adults by ClinGen.\r\n\r\nBleeding tendency and haematological malignancies with variable age of onset. Mostly based on expert opinion, regular evaluation of haematological indices by a haematologist is recommended, with consideration given to optimal timing of BMT. \nSources: Expert list","entity_name":"RUNX1","entity_type":"gene"},{"created":"2025-04-22T19:03:09.328029+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.63","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SDHA as ready","entity_name":"SDHA","entity_type":"gene"},{"created":"2025-04-22T19:03:09.318725+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.63","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sdha has been classified as Green List (High Evidence).","entity_name":"SDHA","entity_type":"gene"},{"created":"2025-04-22T19:03:06.233768+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.63","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SDHA as Green List (high evidence)","entity_name":"SDHA","entity_type":"gene"},{"created":"2025-04-22T19:03:06.219875+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.63","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sdha has been classified as Green List (High Evidence).","entity_name":"SDHA","entity_type":"gene"},{"created":"2025-04-22T19:02:59.783542+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.62","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SDHA was added\ngene: SDHA was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: SDHA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SDHA were set to Paragangliomas 5 , MIM#614165\nReview for gene: SDHA was set to GREEN\nAdded comment: MODERATE actionability by ClinGen.\r\n\r\nLifelong biochemical and clinical surveillance for paragangliomas recommended. \nSources: Expert list","entity_name":"SDHA","entity_type":"gene"},{"created":"2025-04-22T18:58:50.380861+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.61","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CP as ready","entity_name":"CP","entity_type":"gene"},{"created":"2025-04-22T18:58:50.373655+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.61","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cp has been classified as Green List (High Evidence).","entity_name":"CP","entity_type":"gene"},{"created":"2025-04-22T18:58:20.565316+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.61","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CP as Green List (high evidence)","entity_name":"CP","entity_type":"gene"},{"created":"2025-04-22T18:58:20.559050+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.61","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cp has been classified as Green List (High Evidence).","entity_name":"CP","entity_type":"gene"},{"created":"2025-04-22T18:58:11.082912+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.60","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CP was added\ngene: CP was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CP were set to Aceruloplasminaemia, MIM#604290\nReview for gene: CP was set to GREEN\nAdded comment: Progressive disorder of iron accumulation in the brain and viscera. Potentially amenable to treatment with iron chelating agents.\r\n\r\nMODERATE actionability by ClinGen. \nSources: Expert list","entity_name":"CP","entity_type":"gene"},{"created":"2025-04-22T18:50:22.075534+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.59","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COL4A4 as ready","entity_name":"COL4A4","entity_type":"gene"},{"created":"2025-04-22T18:50:22.069142+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.59","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col4a4 has been classified as Green List (High Evidence).","entity_name":"COL4A4","entity_type":"gene"},{"created":"2025-04-22T18:50:01.289243+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.59","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: COL4A4 as Green List (high evidence)","entity_name":"COL4A4","entity_type":"gene"},{"created":"2025-04-22T18:50:01.279115+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.59","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col4a4 has been classified as Green List (High Evidence).","entity_name":"COL4A4","entity_type":"gene"},{"created":"2025-04-22T18:49:52.895641+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.58","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL4A4 was added\ngene: COL4A4 was added to Additional findings_Adult. Sources: Literature\nMode of inheritance for gene: COL4A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL4A4 were set to Alport syndrome 2, autosomal recessive, MIM#203780\nReview for gene: COL4A4 was set to GREEN\nAdded comment: STRONG actionability by ClinGen.\r\n\r\nAlthough heterozygous variants can cause disease, this is typically milder, later-onset and of variable penetrance/expressivity so less suited to population screening.\r\n\r\nScreen for biallelic disease only at the moment. Referrals to renal, ophthalmology and audiology recommended. \nSources: Literature","entity_name":"COL4A4","entity_type":"gene"},{"created":"2025-04-22T18:48:47.785685+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.57","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COL4A3 as ready","entity_name":"COL4A3","entity_type":"gene"},{"created":"2025-04-22T18:48:47.778771+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.57","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col4a3 has been classified as Green List (High Evidence).","entity_name":"COL4A3","entity_type":"gene"},{"created":"2025-04-22T18:48:40.093290+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.57","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: COL4A3 as Green List (high evidence)","entity_name":"COL4A3","entity_type":"gene"},{"created":"2025-04-22T18:48:40.086066+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.57","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col4a3 has been classified as Green List (High Evidence).","entity_name":"COL4A3","entity_type":"gene"},{"created":"2025-04-22T18:48:32.362999+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.56","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL4A3 was added\ngene: COL4A3 was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: COL4A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL4A3 were set to Alport syndrome 2, autosomal recessive, MIM# 203780\nReview for gene: COL4A3 was set to GREEN\nAdded comment: STRONG actionability by ClinGen.\r\n\r\nAlthough heterozygous variants can cause disease, this is typically milder, later-onset and of variable penetrance/expressivity so less suited to population screening.\r\n\r\nScreen for biallelic disease only at the moment. Referrals to renal, ophthalmology and audiology recommended. \nSources: Expert list","entity_name":"COL4A3","entity_type":"gene"},{"created":"2025-04-22T18:46:09.470988+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.55","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COL4A5 as ready","entity_name":"COL4A5","entity_type":"gene"},{"created":"2025-04-22T18:46:09.465023+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.55","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col4a5 has been classified as Green List (High Evidence).","entity_name":"COL4A5","entity_type":"gene"},{"created":"2025-04-22T18:46:05.712500+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.55","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: COL4A5 as Green List (high evidence)","entity_name":"COL4A5","entity_type":"gene"},{"created":"2025-04-22T18:46:05.706578+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.55","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col4a5 has been classified as Green List (High Evidence).","entity_name":"COL4A5","entity_type":"gene"},{"created":"2025-04-22T18:45:56.738882+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.54","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL4A5 was added\ngene: COL4A5 was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: COL4A5 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: COL4A5 were set to Alport syndrome 1, X-linked, MIM# 301050\nReview for gene: COL4A5 was set to GREEN\nAdded comment: STRONG actionability by ClinGen.\r\n\r\nBoth males and females can be affected, though females show variable expressivity. Genotype-phenotype correlation available with truncating/frameshift variants typically resulting in more severe disease. Referrals to renal, ophthalmology and audiology for surveillance. \nSources: Expert list","entity_name":"COL4A5","entity_type":"gene"},{"created":"2025-04-22T18:40:33.510251+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.53","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC22A5 as ready","entity_name":"SLC22A5","entity_type":"gene"},{"created":"2025-04-22T18:40:33.503853+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.53","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc22a5 has been classified as Green List (High Evidence).","entity_name":"SLC22A5","entity_type":"gene"},{"created":"2025-04-22T18:40:30.842521+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.53","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC22A5 as Green List (high evidence)","entity_name":"SLC22A5","entity_type":"gene"},{"created":"2025-04-22T18:40:30.835631+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.53","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc22a5 has been classified as Green List (High Evidence).","entity_name":"SLC22A5","entity_type":"gene"},{"created":"2025-04-22T18:40:21.632614+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.52","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC22A5 was added\ngene: SLC22A5 was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary, MIM# 212140\nReview for gene: SLC22A5 was set to GREEN\nAdded comment: MODERATE actionability in adults by ClinGen.\r\n\r\nAdulthood presentation is associated with minor symptoms like fatigue and decreased stamina, but dilated cardiomyopathy and arrhythmias and sudden cardiac death have also been reported.\r\n\r\nThe main treatment for CDSP is lifelong oral levocarnitine (L-carnitine) supplementation. The benefit of treatment in asymptomatic adults is less well established, but is hoped it may prevent cardiac events and decompensations. Metabolic decompensation and hypoglycaemic episodes are treated with glucose in addition to carnitine supplementation. Referral to cardiology for cardiomyopathy assessment is recommended. \nSources: Expert list","entity_name":"SLC22A5","entity_type":"gene"},{"created":"2025-04-22T18:33:33.268316+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.51","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDKN2A as ready","entity_name":"CDKN2A","entity_type":"gene"},{"created":"2025-04-22T18:33:33.262114+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.51","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdkn2a has been classified as Green List (High Evidence).","entity_name":"CDKN2A","entity_type":"gene"},{"created":"2025-04-22T18:33:29.866290+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.51","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CDKN2A as Green List (high evidence)","entity_name":"CDKN2A","entity_type":"gene"},{"created":"2025-04-22T18:33:29.859479+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.51","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdkn2a has been classified as Green List (High Evidence).","entity_name":"CDKN2A","entity_type":"gene"},{"created":"2025-04-22T18:33:23.053865+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.50","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CDKN2A was added\ngene: CDKN2A was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: CDKN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CDKN2A were set to {Melanoma-pancreatic cancer syndrome} MIM#606719\nReview for gene: CDKN2A was set to GREEN\nAdded comment: MODERATE actionability by ClinGen.\r\n\r\nRefer to cancer genetics services, surveillance for melanoma and pancreatic cancer available. \nSources: Expert list","entity_name":"CDKN2A","entity_type":"gene"},{"created":"2025-04-22T18:00:33.239516+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.49","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Haemolytic crises can be prevented through avoidance of triggering foods, medicines and other chemicals. \nSources: Expert list; to: Haemolytic crises can be prevented through avoidance of triggering foods, medicines and other chemicals. \r\n\r\nMODERATE actionability in adults by ClinGen.\r\n\r\nSources: Expert list","entity_name":"G6PD","entity_type":"gene"},{"created":"2025-04-22T18:00:17.106506+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.49","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: G6PD as ready","entity_name":"G6PD","entity_type":"gene"},{"created":"2025-04-22T18:00:17.096509+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.49","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: g6pd has been classified as Green List (High Evidence).","entity_name":"G6PD","entity_type":"gene"},{"created":"2025-04-22T18:00:14.391986+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.49","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: G6PD as Green List (high evidence)","entity_name":"G6PD","entity_type":"gene"},{"created":"2025-04-22T18:00:14.385809+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.49","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: g6pd has been classified as Green List (High Evidence).","entity_name":"G6PD","entity_type":"gene"},{"created":"2025-04-22T18:00:05.163961+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.48","user_name":"Zornitza Stark","item_type":"entity","text":"gene: G6PD was added\ngene: G6PD was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: G6PD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: G6PD were set to Haemolytic anemia, G6PD deficient (favism), MIM# 300908\nReview for gene: G6PD was set to GREEN\nAdded comment: Haemolytic crises can be prevented through avoidance of triggering foods, medicines and other chemicals. \nSources: Expert list","entity_name":"G6PD","entity_type":"gene"},{"created":"2025-04-22T17:53:34.852625+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.47","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NAGS as ready","entity_name":"NAGS","entity_type":"gene"}]}