{"count":220790,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=738","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=736","results":[{"created":"2022-09-30T08:15:14.905683+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.270","user_name":"David Amor","item_type":"entity","text":"reviewed gene: MEN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple endocrine neoplasia 1 (MEN1); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MEN1","entity_type":"gene"},{"created":"2022-09-30T08:07:58.508860+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.270","user_name":"David Amor","item_type":"entity","text":"reviewed gene: MEGF10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MEGF10","entity_type":"gene"},{"created":"2022-09-30T08:04:16.189504+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.270","user_name":"David Amor","item_type":"entity","text":"reviewed gene: MEFV: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Familial mediteranean fever; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MEFV","entity_type":"gene"},{"created":"2022-09-30T07:59:32.374960+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.270","user_name":"David Amor","item_type":"entity","text":"reviewed gene: MED25: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Basel-Vanagaite-Smirin-Yosef Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MED25","entity_type":"gene"},{"created":"2022-09-30T07:54:24.879960+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.270","user_name":"David Amor","item_type":"entity","text":"reviewed gene: MED12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: FG syndrome, intellectual disability, Lujan syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"MED12","entity_type":"gene"},{"created":"2022-09-30T07:51:28.051422+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.270","user_name":"David Amor","item_type":"entity","text":"reviewed gene: MECP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Rett syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"MECP2","entity_type":"gene"},{"created":"2022-09-30T07:49:08.443231+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.270","user_name":"David Amor","item_type":"entity","text":"reviewed gene: MCPH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: autosomal recessive microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MCPH1","entity_type":"gene"},{"created":"2022-09-29T21:39:33.483352+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: IVD.","entity_name":"IVD","entity_type":"gene"},{"created":"2022-09-29T21:39:07.079978+10:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: IVD.","entity_name":"IVD","entity_type":"gene"},{"created":"2022-09-29T21:38:42.505396+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4953","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: IVD.","entity_name":"IVD","entity_type":"gene"},{"created":"2022-09-29T21:38:21.749847+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.505","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: IVD.","entity_name":"IVD","entity_type":"gene"},{"created":"2022-09-29T21:36:55.510531+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.343","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: IVD.","entity_name":"IVD","entity_type":"gene"},{"created":"2022-09-29T20:59:22.504534+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.270","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: IVD.","entity_name":"IVD","entity_type":"gene"},{"created":"2022-09-29T20:59:10.869142+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.270","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IVD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Isovaleric acidaemia, MIM# 243500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IVD","entity_type":"gene"},{"created":"2022-09-29T20:56:38.249798+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.270","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association.\r\n\r\nVariable severity and age of presentation, predominantly with cutaneous and neurologic abnormalities\r\n\r\nTreatment: biotin\r\n\r\nNon-genetic confirmatory testing: biotinidase enzyme activity in serum or plasma; to: Well established gene-disease association.\r\n\r\nVariable severity and age of presentation, predominantly with cutaneous and neurologic abnormalities. Phenotype can be difficult to predict from genotype, however note currently included in tNBS.\r\n\r\nTreatment: biotin\r\n\r\nNon-genetic confirmatory testing: biotinidase enzyme activity in serum or plasma","entity_name":"BTD","entity_type":"gene"},{"created":"2022-09-29T20:55:40.588919+10:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.23","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: BTD.","entity_name":"BTD","entity_type":"gene"},{"created":"2022-09-29T20:55:12.165388+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4953","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: BTD.","entity_name":"BTD","entity_type":"gene"},{"created":"2022-09-29T20:54:29.773847+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.505","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: BTD.","entity_name":"BTD","entity_type":"gene"},{"created":"2022-09-29T20:54:12.351908+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1672","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: BTD.","entity_name":"BTD","entity_type":"gene"},{"created":"2022-09-29T20:53:43.524729+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.343","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: BTD.","entity_name":"BTD","entity_type":"gene"},{"created":"2022-09-29T20:53:29.894481+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.270","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BTD as ready","entity_name":"BTD","entity_type":"gene"},{"created":"2022-09-29T20:53:29.886591+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.270","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: btd has been classified as Green List (High Evidence).","entity_name":"BTD","entity_type":"gene"},{"created":"2022-09-29T20:53:14.887173+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.270","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: BTD.","entity_name":"BTD","entity_type":"gene"},{"created":"2022-09-29T20:53:03.619683+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.270","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BTD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Biotinidase deficiency, MIM 253260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BTD","entity_type":"gene"},{"created":"2022-09-29T20:50:15.388761+10:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: HLCS.","entity_name":"HLCS","entity_type":"gene"},{"created":"2022-09-29T20:49:48.205191+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4953","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: HLCS.","entity_name":"HLCS","entity_type":"gene"},{"created":"2022-09-29T20:49:29.592148+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.505","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: HLCS.","entity_name":"HLCS","entity_type":"gene"},{"created":"2022-09-29T20:49:12.118773+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.836","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: HLCS.","entity_name":"HLCS","entity_type":"gene"},{"created":"2022-09-29T20:48:29.300598+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1672","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: HLCS.","entity_name":"HLCS","entity_type":"gene"},{"created":"2022-09-29T20:47:51.091699+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.343","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: HLCS.","entity_name":"HLCS","entity_type":"gene"},{"created":"2022-09-29T20:47:26.161238+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.270","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HLCS as ready","entity_name":"HLCS","entity_type":"gene"},{"created":"2022-09-29T20:47:26.149561+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.270","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hlcs has been classified as Green List (High Evidence).","entity_name":"HLCS","entity_type":"gene"},{"created":"2022-09-29T20:47:17.641034+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.270","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: HLCS.","entity_name":"HLCS","entity_type":"gene"},{"created":"2022-09-29T20:47:04.687877+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.270","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HLCS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Holocarboxylase synthetase deficiency, MIM# 253270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HLCS","entity_type":"gene"},{"created":"2022-09-29T20:44:25.332809+10:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.23","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: GCDH.","entity_name":"GCDH","entity_type":"gene"},{"created":"2022-09-29T20:44:02.931905+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.217","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: GCDH.","entity_name":"GCDH","entity_type":"gene"},{"created":"2022-09-29T20:43:41.778347+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4953","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: GCDH.","entity_name":"GCDH","entity_type":"gene"},{"created":"2022-09-29T20:43:19.985915+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.472","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GCDH as ready","entity_name":"GCDH","entity_type":"gene"},{"created":"2022-09-29T20:43:19.977183+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.472","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gcdh has been classified as Red List (Low Evidence).","entity_name":"GCDH","entity_type":"gene"},{"created":"2022-09-29T20:43:16.595949+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.472","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GCDH were changed from  to Glutaric aciduria, type I MIM#231670","entity_name":"GCDH","entity_type":"gene"},{"created":"2022-09-29T20:42:51.955619+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.505","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: GCDH.","entity_name":"GCDH","entity_type":"gene"},{"created":"2022-09-29T20:42:40.989486+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.471","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GCDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GCDH","entity_type":"gene"},{"created":"2022-09-29T20:42:08.841854+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.470","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GCDH as Red List (low evidence)","entity_name":"GCDH","entity_type":"gene"},{"created":"2022-09-29T20:42:08.833705+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.470","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gcdh has been classified as Red List (Low Evidence).","entity_name":"GCDH","entity_type":"gene"},{"created":"2022-09-29T20:41:42.665784+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.469","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GCDH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric aciduria, type I MIM#231670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GCDH","entity_type":"gene"},{"created":"2022-09-29T20:39:38.508244+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.343","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: GCDH.","entity_name":"GCDH","entity_type":"gene"},{"created":"2022-09-29T20:38:58.612247+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.270","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GCDH as ready","entity_name":"GCDH","entity_type":"gene"},{"created":"2022-09-29T20:38:58.601607+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.270","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gcdh has been classified as Green List (High Evidence).","entity_name":"GCDH","entity_type":"gene"},{"created":"2022-09-29T17:28:22.513760+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.270","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: GCDH.","entity_name":"GCDH","entity_type":"gene"},{"created":"2022-09-29T17:27:51.509936+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.270","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GCDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 33069577; Phenotypes: Glutaric aciduria, type I MIM#231670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GCDH","entity_type":"gene"},{"created":"2022-09-29T17:19:29.190010+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.270","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: CBS.","entity_name":"CBS","entity_type":"gene"},{"created":"2022-09-29T17:19:15.953854+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.270","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association.\r\n\r\nMulti-system disorder, onset in infancy.\r\nIn general, individuals appear normal at birth but have a progressive disease course if untreated. Clinical features typically manifest in the first or second decade of life. Intellectual disability may be the first recognizable sign and may present as developmental delay after the first to second year of life. Myopia typically occurs after age one with the majority of untreated individuals developing ectopia lentis by age 8. Roughly half of patients show signs of osteoporosis by their teens. Cerebrovascular events typically manifest during young adulthood, though they have been reported earlier. Thromboembolism is the major cause of early death and morbidity. Among B₆-responsive individuals, a vascular event in adolescence or adulthood is often the presenting feature. \r\n\r\nTreatment: vitamin B6  (pyridoxine),  methionine-restricted diet, folate, vitamin B12, betaine. Management guidelines PMID 27778219.\r\n\r\nNon-genetic confirmatory testing: plasma total homocysteine and plasma amino acids\r\n\r\nPaediatric actionable gene by ClinGen.; to: Well established gene-disease association.\r\n\r\nMulti-system disorder, onset in infancy.\r\nIn general, individuals appear normal at birth but have a progressive disease course if untreated. Clinical features typically manifest in the first or second decade of life. Intellectual disability may be the first recognizable sign and may present as developmental delay after the first to second year of life. Myopia typically occurs after age one with the majority of untreated individuals developing ectopia lentis by age 8. Roughly half of patients show signs of osteoporosis by their teens. Cerebrovascular events typically manifest during young adulthood, though they have been reported earlier. Thromboembolism is the major cause of early death and morbidity. Among B₆-responsive individuals, a vascular event in adolescence or adulthood is often the presenting feature. \r\n\r\nTreatment: vitamin B6  (pyridoxine),  methionine-restricted diet, folate, vitamin B12, betaine. Management guidelines PMID 27778219.\r\n\r\nNon-genetic confirmatory testing: plasma total homocysteine and plasma amino acids\r\n\r\nPaediatric actionable gene by ClinGen.\r\n\r\nNote excluded from reproductive carrier screening tests due to poor mappability, for review.","entity_name":"CBS","entity_type":"gene"},{"created":"2022-09-29T17:18:43.098034+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.270","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CBS as ready","entity_name":"CBS","entity_type":"gene"},{"created":"2022-09-29T17:18:43.088467+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.270","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cbs has been classified as Green List (High Evidence).","entity_name":"CBS","entity_type":"gene"},{"created":"2022-09-29T17:18:01.226926+10:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.23","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CBS.","entity_name":"CBS","entity_type":"gene"},{"created":"2022-09-29T17:17:40.899762+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CBS.","entity_name":"CBS","entity_type":"gene"},{"created":"2022-09-29T17:17:18.608042+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4953","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CBS.","entity_name":"CBS","entity_type":"gene"},{"created":"2022-09-29T17:16:58.498329+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.505","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CBS.","entity_name":"CBS","entity_type":"gene"},{"created":"2022-09-29T17:16:24.060825+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.343","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CBS.","entity_name":"CBS","entity_type":"gene"},{"created":"2022-09-29T17:15:29.680089+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.72","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CBS.","entity_name":"CBS","entity_type":"gene"},{"created":"2022-09-29T17:15:19.238207+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.270","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CBS were changed from Homocystinuria, B6-responsive and nonresponsive types to Homocystinuria (MIM# 236200)","entity_name":"CBS","entity_type":"gene"},{"created":"2022-09-29T17:15:06.752882+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.269","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CBS were set to ","entity_name":"CBS","entity_type":"gene"},{"created":"2022-09-29T17:14:54.845698+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.268","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CBS.","entity_name":"CBS","entity_type":"gene"},{"created":"2022-09-29T17:14:43.750426+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.268","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CBS: Rating: GREEN; Mode of pathogenicity: None; Publications: 27778219; Phenotypes: Homocystinuria (MIM# 236200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CBS","entity_type":"gene"},{"created":"2022-09-29T17:08:48.197975+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.268","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CFTR.","entity_name":"CFTR","entity_type":"gene"},{"created":"2022-09-29T17:08:35.983308+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.268","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CFTR as ready","entity_name":"CFTR","entity_type":"gene"},{"created":"2022-09-29T17:08:35.967805+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.268","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cftr has been classified as Green List (High Evidence).","entity_name":"CFTR","entity_type":"gene"},{"created":"2022-09-29T17:08:27.038953+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.268","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association.\r\n\r\nTypically presents in infancy and early childhood.\r\n\r\nEarly treatment improves outcomes.\r\n\r\nNon-genetic confirmatory testing available.; to: Well established gene-disease association.\r\n\r\nTypically presents in infancy and early childhood.\r\n\r\nEarly treatment improves outcomes.\r\n\r\nNon-genetic confirmatory testing available: sweat test.","entity_name":"CFTR","entity_type":"gene"},{"created":"2022-09-29T17:08:15.977805+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.268","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CFTR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cystic fibrosis, MIM# 219700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CFTR","entity_type":"gene"},{"created":"2022-09-29T17:07:02.298764+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.268","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CYP21A2 as ready","entity_name":"CYP21A2","entity_type":"gene"},{"created":"2022-09-29T17:07:02.290112+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.268","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cyp21a2 has been classified as Green List (High Evidence).","entity_name":"CYP21A2","entity_type":"gene"},{"created":"2022-09-29T17:06:50.417464+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.268","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: CYP21A2.","entity_name":"CYP21A2","entity_type":"gene"},{"created":"2022-09-29T17:06:34.539529+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.268","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CYP21A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CYP21A2","entity_type":"gene"},{"created":"2022-09-29T17:04:38.194945+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: MMADHC.","entity_name":"MMADHC","entity_type":"gene"},{"created":"2022-09-29T17:04:19.733998+10:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.23","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: MMADHC.","entity_name":"MMADHC","entity_type":"gene"},{"created":"2022-09-29T17:03:57.969623+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4953","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: MMADHC.","entity_name":"MMADHC","entity_type":"gene"},{"created":"2022-09-29T17:03:39.574191+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.505","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: MMADHC.","entity_name":"MMADHC","entity_type":"gene"},{"created":"2022-09-29T17:03:24.396196+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1672","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: MMADHC.","entity_name":"MMADHC","entity_type":"gene"},{"created":"2022-09-29T17:02:55.507414+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.343","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: MMADHC.","entity_name":"MMADHC","entity_type":"gene"},{"created":"2022-09-29T17:02:44.499078+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.268","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: MMADHC.","entity_name":"MMADHC","entity_type":"gene"},{"created":"2022-09-29T17:02:33.742943+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.268","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MMADHC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Homocystinuria, cblD type, variant 1 MIM#277410, Methylmalonic aciduria and homocystinuria, cblD type MIM#277410, Methylmalonic aciduria, cblD type, variant 2 MIM#277410, Disorders of cobalamin absorption, transport and metabolism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MMADHC","entity_type":"gene"},{"created":"2022-09-29T17:00:17.818302+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4953","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MMACHC as ready","entity_name":"MMACHC","entity_type":"gene"},{"created":"2022-09-29T17:00:17.809176+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4953","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mmachc has been classified as Green List (High Evidence).","entity_name":"MMACHC","entity_type":"gene"},{"created":"2022-09-29T17:00:11.322109+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4953","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MMACHC were changed from  to Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400","entity_name":"MMACHC","entity_type":"gene"},{"created":"2022-09-29T16:57:23.080721+10:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.23","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: MMACHC.","entity_name":"MMACHC","entity_type":"gene"},{"created":"2022-09-29T16:57:01.798644+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: MMACHC.","entity_name":"MMACHC","entity_type":"gene"},{"created":"2022-09-29T16:56:33.827145+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.196","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: MMACHC.","entity_name":"MMACHC","entity_type":"gene"},{"created":"2022-09-29T16:56:11.582248+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4952","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MMACHC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MMACHC","entity_type":"gene"},{"created":"2022-09-29T16:56:11.368125+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.344","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: MMACHC.","entity_name":"MMACHC","entity_type":"gene"},{"created":"2022-09-29T16:55:50.298336+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.469","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MMACHC as ready","entity_name":"MMACHC","entity_type":"gene"},{"created":"2022-09-29T16:55:50.287763+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.469","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mmachc has been classified as Red List (Low Evidence).","entity_name":"MMACHC","entity_type":"gene"},{"created":"2022-09-29T16:55:35.492291+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4951","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MMACHC","entity_type":"gene"},{"created":"2022-09-29T16:55:11.649756+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4951","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: MMACHC.","entity_name":"MMACHC","entity_type":"gene"},{"created":"2022-09-29T16:55:03.096701+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.469","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MMACHC were changed from  to Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400","entity_name":"MMACHC","entity_type":"gene"},{"created":"2022-09-29T16:54:37.729261+10:00","panel_name":"Atypical Haemolytic Uraemic Syndrome_MPGN","panel_id":211,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: MMACHC.","entity_name":"MMACHC","entity_type":"gene"},{"created":"2022-09-29T16:54:32.557700+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.468","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MMACHC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MMACHC","entity_type":"gene"},{"created":"2022-09-29T16:54:06.576656+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.467","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MMACHC as Red List (low evidence)","entity_name":"MMACHC","entity_type":"gene"},{"created":"2022-09-29T16:54:06.567562+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.467","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mmachc has been classified as Red List (Low Evidence).","entity_name":"MMACHC","entity_type":"gene"},{"created":"2022-09-29T16:53:53.235021+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.268","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MMACHC as ready","entity_name":"MMACHC","entity_type":"gene"},{"created":"2022-09-29T16:53:53.225873+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.268","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mmachc has been classified as Green List (High Evidence).","entity_name":"MMACHC","entity_type":"gene"}]}