{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=653","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=651","results":[{"created":"2022-12-29T13:50:53.457336+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"Zornitza Stark","item_type":"entity","text":"Tag haematological tag was added to gene: MYSM1.","entity_name":"MYSM1","entity_type":"gene"},{"created":"2022-12-29T13:50:35.522038+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"Zornitza Stark","item_type":"entity","text":"Tag deafness tag was added to gene: MYO7A.","entity_name":"MYO7A","entity_type":"gene"},{"created":"2022-12-29T13:50:16.495521+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"Zornitza Stark","item_type":"entity","text":"Tag deafness tag was added to gene: MYO6.","entity_name":"MYO6","entity_type":"gene"},{"created":"2022-12-29T13:49:58.413840+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"Zornitza Stark","item_type":"entity","text":"Tag deafness tag was added to gene: MYO15A.","entity_name":"MYO15A","entity_type":"gene"},{"created":"2022-12-29T13:49:38.131786+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"Zornitza Stark","item_type":"entity","text":"Tag metabolic tag was added to gene: MVK.","entity_name":"MVK","entity_type":"gene"},{"created":"2022-12-29T13:49:17.382976+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"Zornitza Stark","item_type":"entity","text":"Tag metabolic tag was added to gene: MUT.","entity_name":"MUT","entity_type":"gene"},{"created":"2022-12-29T13:48:56.477865+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"Zornitza Stark","item_type":"entity","text":"Tag neurological tag was added to gene: MUSK.","entity_name":"MUSK","entity_type":"gene"},{"created":"2022-12-29T13:47:18.499111+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"Zornitza Stark","item_type":"entity","text":"Tag metabolic tag was added to gene: MTTP.","entity_name":"MTTP","entity_type":"gene"},{"created":"2022-12-29T13:46:48.081816+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: MTRR.\nTag metabolic tag was added to gene: MTRR.","entity_name":"MTRR","entity_type":"gene"},{"created":"2022-12-29T13:46:26.276013+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: MTR.\nTag haematological tag was added to gene: MTR.","entity_name":"MTR","entity_type":"gene"},{"created":"2022-12-29T13:45:59.516371+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"Zornitza Stark","item_type":"entity","text":"Tag endocrine tag was added to gene: MRAP.","entity_name":"MRAP","entity_type":"gene"},{"created":"2022-12-29T13:45:31.161737+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"Zornitza Stark","item_type":"entity","text":"Tag haematological tag was added to gene: MPL.","entity_name":"MPL","entity_type":"gene"},{"created":"2022-12-29T13:44:58.436090+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"Zornitza Stark","item_type":"entity","text":"Tag metabolic tag was added to gene: MPI.","entity_name":"MPI","entity_type":"gene"},{"created":"2022-12-29T13:44:25.944863+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"Zornitza Stark","item_type":"entity","text":"Tag metabolic tag was added to gene: MOCS1.","entity_name":"MOCS1","entity_type":"gene"},{"created":"2022-12-29T13:44:00.535184+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MMADHC as ready","entity_name":"MMADHC","entity_type":"gene"},{"created":"2022-12-29T13:44:00.522804+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mmadhc has been classified as Green List (High Evidence).","entity_name":"MMADHC","entity_type":"gene"},{"created":"2022-12-29T13:43:54.679840+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"Zornitza Stark","item_type":"entity","text":"Tag metabolic tag was added to gene: MMADHC.","entity_name":"MMADHC","entity_type":"gene"},{"created":"2022-12-29T13:43:26.433540+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"Zornitza Stark","item_type":"entity","text":"Tag metabolic tag was added to gene: MMACHC.","entity_name":"MMACHC","entity_type":"gene"},{"created":"2022-12-29T13:43:05.208792+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"Zornitza Stark","item_type":"entity","text":"Tag metabolic tag was added to gene: MMAB.","entity_name":"MMAB","entity_type":"gene"},{"created":"2022-12-29T13:42:41.443648+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"Zornitza Stark","item_type":"entity","text":"Tag metabolic tag was added to gene: MMAA.","entity_name":"MMAA","entity_type":"gene"},{"created":"2022-12-29T13:42:19.525359+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"Zornitza Stark","item_type":"entity","text":"Tag metabolic tag was added to gene: MLYCD.","entity_name":"MLYCD","entity_type":"gene"},{"created":"2022-12-29T13:41:54.753672+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"Zornitza Stark","item_type":"entity","text":"Tag deafness tag was added to gene: MITF.","entity_name":"MITF","entity_type":"gene"},{"created":"2022-12-29T13:41:32.427281+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"Zornitza Stark","item_type":"entity","text":"Tag haematological tag was added to gene: MEFV.","entity_name":"MEFV","entity_type":"gene"},{"created":"2022-12-29T13:41:01.947407+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"Zornitza Stark","item_type":"entity","text":"Tag haematological tag was added to gene: MCFD2.","entity_name":"MCFD2","entity_type":"gene"},{"created":"2022-12-29T13:40:34.447708+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"Zornitza Stark","item_type":"entity","text":"Tag endocrine tag was added to gene: MC2R.","entity_name":"MC2R","entity_type":"gene"},{"created":"2022-12-29T13:40:14.072789+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"Zornitza Stark","item_type":"entity","text":"Tag deafness tag was added to gene: MARVELD2.","entity_name":"MARVELD2","entity_type":"gene"},{"created":"2022-12-29T13:39:53.554374+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"Zornitza Stark","item_type":"entity","text":"Tag metabolic tag was added to gene: MAN2B1.","entity_name":"MAN2B1","entity_type":"gene"},{"created":"2022-12-29T13:16:38.663261+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"David Amor","item_type":"entity","text":"reviewed gene: TFAP2B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: MIM 169100 Char syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TFAP2B","entity_type":"gene"},{"created":"2022-12-29T13:12:28.879456+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"David Amor","item_type":"entity","text":"reviewed gene: TFAP2A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: MIM 107580 Branchiooculofacial syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TFAP2A","entity_type":"gene"},{"created":"2022-12-29T13:05:50.968867+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"David Amor","item_type":"entity","text":"changed review comment from: Gene-disease association: strong but rare, prbably <1% of Sticller syndrome; Van Camp et al. (2006) described a consanguineous Moroccan family in which 4 of 10 sibs had features characteristic of Stickler syndrome, including moderate to severe sensorineural hearing loss, moderate to high myopia with vitreoretinopathy, and epiphyseal dysplasia. Nikopoulos et al. (2011) reported 2 sisters in a Turkish family and 1 boy in a Moroccan family with features of autosomal recessive Stickler syndrome. All 3 individuals had myopia, vitreous changes, sensorineural hearing loss, and epiphyseal dysplasia. They also had exudative rhegmatogenous retinal detachment.\r\n\r\nSeverity: moderate-severe\r\n\r\nAge of onset: congenital\r\n\r\nNon-molecular confirmatory testing: Affected individuals have moderate-to-severe sensorineural hearing loss, moderate-to-high myopia with vitreoretinopathy, cataracts, and epiphyseal dysplasia\r\n\r\nTreatment: as per other Stickler syndrome; to: Gene-disease association: strong but rare, prbably <1% of Sticller syndrome; Van Camp et al. (2006) described a consanguineous Moroccan family in which 4 of 10 sibs had features characteristic of Stickler syndrome, including moderate to severe sensorineural hearing loss, moderate to high myopia with vitreoretinopathy, and epiphyseal dysplasia. Nikopoulos et al. (2011) reported 2 sisters in a Turkish family and 1 boy in a Moroccan family with features of autosomal recessive Stickler syndrome. All 3 individuals had myopia, vitreous changes, sensorineural hearing loss, and epiphyseal dysplasia. They also had exudative rhegmatogenous retinal detachment.\r\n\r\nSeverity: moderate-severe\r\n\r\nAge of onset: congenital\r\n\r\nNon-molecular confirmatory testing: Affected individuals have moderate-to-severe sensorineural hearing loss, moderate-to-high myopia with vitreoretinopathy, cataracts, and epiphyseal dysplasia\r\n\r\nTreatment: as per other Stickler syndrome","entity_name":"COL9A1","entity_type":"gene"},{"created":"2022-12-29T13:05:18.922596+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"David Amor","item_type":"entity","text":"reviewed gene: COL9A2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: MIM 614284 ?Stickler syndrome, type V; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"COL9A2","entity_type":"gene"},{"created":"2022-12-29T13:02:32.750052+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"David Amor","item_type":"entity","text":"reviewed gene: COL9A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: MIM 120210 Stickler syndrome, type IV; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"COL9A1","entity_type":"gene"},{"created":"2022-12-29T12:55:19.601594+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"David Amor","item_type":"entity","text":"reviewed gene: ABCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: MIM 256450 Hyperinsulinemic hypoglycemia, familial, 1, MIM 618857 Diabetes mellitus, permanent neonatal 3, with or without neurologic features; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ABCC8","entity_type":"gene"},{"created":"2022-12-29T12:54:33.304934+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"David Amor","item_type":"entity","text":"Deleted their review","entity_name":"ABCC8","entity_type":"gene"},{"created":"2022-12-29T12:54:23.435160+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"David Amor","item_type":"entity","text":"Deleted their comment","entity_name":"ABCC8","entity_type":"gene"},{"created":"2022-12-29T12:53:47.384549+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"David Amor","item_type":"entity","text":"Deleted their comment","entity_name":"ABCC8","entity_type":"gene"},{"created":"2022-12-29T12:53:30.519620+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"David Amor","item_type":"entity","text":"commented on gene: ABCC8: Gene-disease association: strong. Note sporadic cases of Familial hyperinsulinemic hypoglycemiawith focal adenomatous hyperplasia due to paternally inherited variants focal loss of maternal allele.\r\n\r\nABCC8 associated permanent neonatal diabetes mellitus typically due to GoF missense variants. Fathers are at increased risk of T2DM also.\r\n\r\nSeverity: severe\r\n\r\nAge of onset: congenital\r\n\r\nNon-molecular confirmatory testing: yes\r\nFor hyperinsulinaemic hypoglycaemia: glucose, insulin, free fatty acid levels\r\nFor neonatal diabetes: glucose tolerance test, hemoglobin A1C, insulin level, glucose level\r\n\r\nTreatment: as per rx-genes\r\nFor hyperinsulinaemic hypoglycaemia: Diazoxide, somatostatin analogs, nifedipine, glucagon, IGF-1, glucocorticoids, growth hormone, pancreatic resection, mTOR inhibitors, GLP-1 receptor antagonists, sirolimus\r\n\r\nFor neonatal diabetes: Insulin, glibenclamide, oral pancreatic enzymes","entity_name":"ABCC8","entity_type":"gene"},{"created":"2022-12-29T12:53:06.611164+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"David Amor","item_type":"entity","text":"edited their review of gene: ABCC8: Changed phenotypes: MIM 256450 Hyperinsulinemic hypoglycemia, familial, 1, MIM 618857 Diabetes mellitus, permanent neonatal 3, with or without neurologic features","entity_name":"ABCC8","entity_type":"gene"},{"created":"2022-12-29T12:51:40.199957+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"David Amor","item_type":"entity","text":"Deleted their comment","entity_name":"ABCC8","entity_type":"gene"},{"created":"2022-12-29T12:51:15.725073+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"David Amor","item_type":"entity","text":"commented on gene: ABCC8: Gene-disease association: strong. Note sporadic cases of Familial hyperinsulinemic hypoglycemiawith focal adenomatous hyperplasia due to paternally inherited variants focal loss of maternal allele.\r\n\r\nABCC8 associated permanent neonatal diabetes mellitus typically due to GoF missense variants. Fathers are at increased risk of T2DM also.\r\n\r\nSeverity: severe\r\n\r\nAge of onset: congenital\r\n\r\nNon-molecular confirmatory testing: yes\r\nFor hyperinsulinaemic hypoglycaemia: glucose, insulin, free fatty acid levels\r\nFor neonatal diabetes: glucose tolerance test, hemoglobin A1C, insulin level, glucose level\r\n\r\nTreatment: as per rx-genes\r\nFor hyperinsulinaemic hypoglycaemia: Diazoxide, somatostatin analogs, nifedipine, glucagon, IGF-1, glucocorticoids, growth hormone, pancreatic resection, mTOR inhibitors, GLP-1 receptor antagonists, sirolimus\r\n\r\nFor neonatal diabetes: Insulin, glibenclamide, oral pancreatic enzymes","entity_name":"ABCC8","entity_type":"gene"},{"created":"2022-12-29T12:48:40.093711+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"David Amor","item_type":"entity","text":"changed review comment from: Gene-disease association: strong.  Note sporadic cases of Familial hyperinsulinemic hypoglycemiawith focal adenomatous hyperplasia due to paternally inherited variants focal loss of maternal allele.\r\n\r\nABCC8 associated permanent neonatal diabetes mellitus typically due to GoF missense variants.  Fathers are at increased risk of T2DM also.\r\n\r\n\r\n\r\nSeverity: severe\r\n\r\nAge of onset: congenital\r\n\r\nNon-molecular confirmatory testing: yes\r\nFor hyperinsulinaemic hypoglycaemia: glucose, insulin, free fatty acid levels\r\nFor neonatal diabetes: glucose tolerance test, hemoglobin A1C, insulin level, glucose level\r\n\r\nTreatment: as per rx-genes\r\nFor hyperinsulinaemic hypoglycaemia: Diazoxide, somatostatin analogs, nifedipine, glucagon, IGF-1, glucocorticoids, growth hormone, pancreatic resection, mTOR inhibitors, GLP-1 receptor antagonists, sirolimus\r\n\r\nFor neonatal diabetes: Insulin, glibenclamide, oral pancreatic enzymes\r\n; to: Gene-disease association: strong.  Note sporadic cases of Familial hyperinsulinemic hypoglycemiawith focal adenomatous hyperplasia due to paternally inherited variants focal loss of maternal allele.\r\n\r\nABCC8 associated permanent neonatal diabetes mellitus typically due to GoF missense variants.  Fathers are at increased risk of T2DM also.\r\n\r\nSeverity: severe\r\n\r\nAge of onset: congenital\r\n\r\nNon-molecular confirmatory testing: yes\r\nFor hyperinsulinaemic hypoglycaemia: glucose, insulin, free fatty acid levels\r\nFor neonatal diabetes: glucose tolerance test, hemoglobin A1C, insulin level, glucose level\r\n\r\nTreatment: as per rx-genes\r\nFor hyperinsulinaemic hypoglycaemia: Diazoxide, somatostatin analogs, nifedipine, glucagon, IGF-1, glucocorticoids, growth hormone, pancreatic resection, mTOR inhibitors, GLP-1 receptor antagonists, sirolimus\r\n\r\nFor neonatal diabetes: Insulin, glibenclamide, oral pancreatic enzymes\r\n","entity_name":"ABCC8","entity_type":"gene"},{"created":"2022-12-29T12:48:24.480943+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"David Amor","item_type":"entity","text":"changed review comment from: Gene-disease association: strong.  Note sporadic cases with focal adenomatous hyperplasia due to paternally inherited variants focal loss of maternal allele \r\n\r\nSeverity: severe\r\n\r\nAge of onset: congenital\r\n\r\nNon-molecular confirmatory testing: yes, glucose, insulin, free fatty acid levels\r\n\r\nTreatment: as per rx-genes, Diazoxide, somatostatin analogs, nifedipine, glucagon, IGF-1, glucocorticoids, growth hormone, pancreatic resection, mTOR inhibitors, GLP-1 receptor antagonists, sirolimus; to: Gene-disease association: strong.  Note sporadic cases of Familial hyperinsulinemic hypoglycemiawith focal adenomatous hyperplasia due to paternally inherited variants focal loss of maternal allele.\r\n\r\nABCC8 associated permanent neonatal diabetes mellitus typically due to GoF missense variants.  Fathers are at increased risk of T2DM also.\r\n\r\n\r\n\r\nSeverity: severe\r\n\r\nAge of onset: congenital\r\n\r\nNon-molecular confirmatory testing: yes\r\nFor hyperinsulinaemic hypoglycaemia: glucose, insulin, free fatty acid levels\r\nFor neonatal diabetes: glucose tolerance test, hemoglobin A1C, insulin level, glucose level\r\n\r\nTreatment: as per rx-genes\r\nFor hyperinsulinaemic hypoglycaemia: Diazoxide, somatostatin analogs, nifedipine, glucagon, IGF-1, glucocorticoids, growth hormone, pancreatic resection, mTOR inhibitors, GLP-1 receptor antagonists, sirolimus\r\n\r\nFor neonatal diabetes: Insulin, glibenclamide, oral pancreatic enzymes\r\n","entity_name":"ABCC8","entity_type":"gene"},{"created":"2022-12-29T12:43:05.561586+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"David Amor","item_type":"entity","text":"reviewed gene: ABCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: MIM 256450 Hyperinsulinemic hypoglycemia, familial, 1; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ABCC8","entity_type":"gene"},{"created":"2022-12-29T12:30:38.818412+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"David Amor","item_type":"entity","text":"reviewed gene: TECTA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 21, Deafness, autosomal dominant 8/12; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TECTA","entity_type":"gene"},{"created":"2022-12-29T11:24:19.916349+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"Zornitza Stark","item_type":"entity","text":"Tag immunological tag was added to gene: LYST.","entity_name":"LYST","entity_type":"gene"},{"created":"2022-12-29T11:23:37.806077+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"Zornitza Stark","item_type":"entity","text":"Tag deafness tag was added to gene: LRTOMT.","entity_name":"LRTOMT","entity_type":"gene"},{"created":"2022-12-29T11:23:17.472049+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: LRP5.\nTag skeletal tag was added to gene: LRP5.","entity_name":"LRP5","entity_type":"gene"},{"created":"2022-12-29T11:22:45.960927+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"Zornitza Stark","item_type":"entity","text":"Tag deafness tag was added to gene: LOXHD1.","entity_name":"LOXHD1","entity_type":"gene"},{"created":"2022-12-29T11:22:23.977042+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"Zornitza Stark","item_type":"entity","text":"Tag metabolic tag was added to gene: LMBRD1.","entity_name":"LMBRD1","entity_type":"gene"},{"created":"2022-12-29T11:22:03.144164+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"Zornitza Stark","item_type":"entity","text":"Tag metabolic tag was added to gene: LIPA.","entity_name":"LIPA","entity_type":"gene"},{"created":"2022-12-29T11:21:39.125576+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: LIG4.\nTag immunological tag was added to gene: LIG4.","entity_name":"LIG4","entity_type":"gene"},{"created":"2022-12-29T11:19:24.623020+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"Zornitza Stark","item_type":"entity","text":"Tag endocrine tag was added to gene: LHX4.","entity_name":"LHX4","entity_type":"gene"},{"created":"2022-12-29T11:19:03.911878+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"Zornitza Stark","item_type":"entity","text":"Tag endocrine tag was added to gene: LHX3.","entity_name":"LHX3","entity_type":"gene"},{"created":"2022-12-29T11:17:16.800751+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"Zornitza Stark","item_type":"entity","text":"Tag deafness tag was added to gene: LHFPL5.","entity_name":"LHFPL5","entity_type":"gene"},{"created":"2022-12-29T11:16:44.564727+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"Zornitza Stark","item_type":"entity","text":"Tag endocrine tag was added to gene: LEPR.","entity_name":"LEPR","entity_type":"gene"},{"created":"2022-12-29T11:16:21.412312+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: LDLR.\nTag treatable tag was added to gene: LDLR.\nTag metabolic tag was added to gene: LDLR.","entity_name":"LDLR","entity_type":"gene"},{"created":"2022-12-29T10:47:16.455916+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.31","user_name":"Peter McNaughton","item_type":"entity","text":"gene: LCP2 was added\ngene: LCP2 was added to Combined Immunodeficiency. Sources: Literature\nMode of inheritance for gene: LCP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LCP2 were set to PMID: 36474126; PMID: 33231617\nReview for gene: LCP2 was set to GREEN\nAdded comment: 3-year-old child who was born to first-cousins parents and presented with recurrent infections, failure to thrive, and severe EBV-related infection and lymphoproliferation.  \r\nFunctional testing linking gene with impaired t cell signalling.\r\nPrevious unrelated patient reported in PMID: 33231617 with SCID phenotype. \nSources: Literature","entity_name":"LCP2","entity_type":"gene"},{"created":"2022-12-28T18:29:18.141436+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: L1CAM as ready","entity_name":"L1CAM","entity_type":"gene"},{"created":"2022-12-28T18:29:18.128581+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: l1cam has been classified as Red List (Low Evidence).","entity_name":"L1CAM","entity_type":"gene"},{"created":"2022-12-28T18:29:14.720058+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1710","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: L1CAM were changed from X-linked hydrocephalus syndrome to Hydrocephalus due to aqueductal stenosis, MIM# 307000","entity_name":"L1CAM","entity_type":"gene"},{"created":"2022-12-28T18:29:01.391098+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1709","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: L1CAM as Red List (low evidence)","entity_name":"L1CAM","entity_type":"gene"},{"created":"2022-12-28T18:29:01.377620+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1709","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: l1cam has been classified as Red List (Low Evidence).","entity_name":"L1CAM","entity_type":"gene"},{"created":"2022-12-28T18:28:14.163787+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1708","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Association with hyperinsulinism is well established.\r\n\r\nOnset is congenital.\r\n\r\nTreatment: Diazoxide, somatostatin analogs, nifedipine, glucagon, IGF-1, glucocorticoids, growth hormone, pancreatic resection, mTOR inhibitors, GLP-1 receptor antagonists, sirolimus\r\n\r\nAssociation with neonatal diabetes is also well established.\r\n\r\nTreatment: Insulin, glibenclamide, oral pancreatic enzymes.\r\n\r\nPhenotypes are expected to be distinguishable clinically.; to: Association with hyperinsulinism is well established, mono-allelic variants.\r\n\r\nOnset is congenital.\r\n\r\nTreatment: Diazoxide, somatostatin analogs, nifedipine, glucagon, IGF-1, glucocorticoids, growth hormone, pancreatic resection, mTOR inhibitors, GLP-1 receptor antagonists, sirolimus\r\n\r\nAssociation with neonatal diabetes is also well established, bi-allelic variants.\r\n\r\nTreatment: Insulin, glibenclamide, oral pancreatic enzymes.\r\n\r\nPhenotypes are expected to be distinguishable clinically.","entity_name":"KCNJ11","entity_type":"gene"},{"created":"2022-12-28T18:27:53.793781+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1708","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNJ11 as ready","entity_name":"KCNJ11","entity_type":"gene"},{"created":"2022-12-28T18:27:53.778853+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1708","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnj11 has been classified as Green List (High Evidence).","entity_name":"KCNJ11","entity_type":"gene"},{"created":"2022-12-28T18:27:50.180534+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1708","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCNJ11 were changed from Hyperinsulinemic hypoglycemia, familial, MIM#601820 to Diabetes mellitus, transient neonatal, 3 610582; Diabetes, permanent neonatal, with or without neurologic features 606176; Hyperinsulinemic hypoglycemia, familial, 2 601820","entity_name":"KCNJ11","entity_type":"gene"},{"created":"2022-12-28T18:27:30.550083+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1707","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KCNJ11 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"KCNJ11","entity_type":"gene"},{"created":"2022-12-28T18:27:19.522475+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1706","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: KCNJ11.\nTag endocrine tag was added to gene: KCNJ11.","entity_name":"KCNJ11","entity_type":"gene"},{"created":"2022-12-28T18:27:06.566562+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1706","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KCNJ11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes mellitus, transient neonatal, 3 610582, Diabetes, permanent neonatal, with or without neurologic features 606176, Hyperinsulinemic hypoglycemia, familial, 2 601820; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"KCNJ11","entity_type":"gene"},{"created":"2022-12-28T18:24:06.319357+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1706","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: KCNJ1.\nTag renal tag was added to gene: KCNJ1.","entity_name":"KCNJ1","entity_type":"gene"},{"created":"2022-12-28T18:23:39.932526+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1706","user_name":"Zornitza Stark","item_type":"entity","text":"Tag metabolic tag was added to gene: IVD.","entity_name":"IVD","entity_type":"gene"},{"created":"2022-12-28T18:23:14.511665+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1706","user_name":"Zornitza Stark","item_type":"entity","text":"Tag deafness tag was added to gene: ILDR1.","entity_name":"ILDR1","entity_type":"gene"},{"created":"2022-12-28T18:22:43.222584+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1706","user_name":"Zornitza Stark","item_type":"entity","text":"Tag metabolic tag was added to gene: HMGCL.","entity_name":"HMGCL","entity_type":"gene"},{"created":"2022-12-28T18:22:24.138337+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1706","user_name":"Zornitza Stark","item_type":"entity","text":"Tag metabolic tag was added to gene: HLCS.","entity_name":"HLCS","entity_type":"gene"},{"created":"2022-12-28T18:21:57.682762+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1706","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: HK1.\nTag endocrine tag was added to gene: HK1.","entity_name":"HK1","entity_type":"gene"},{"created":"2022-12-28T18:21:25.873723+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1706","user_name":"Zornitza Stark","item_type":"entity","text":"Tag deafness tag was added to gene: HGF.","entity_name":"HGF","entity_type":"gene"},{"created":"2022-12-28T18:20:54.417780+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1706","user_name":"Zornitza Stark","item_type":"entity","text":"Tag metabolic tag was added to gene: HADHB.","entity_name":"HADHB","entity_type":"gene"},{"created":"2022-12-28T18:20:34.573248+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1706","user_name":"Zornitza Stark","item_type":"entity","text":"Tag metabolic tag was added to gene: HADHA.","entity_name":"HADHA","entity_type":"gene"},{"created":"2022-12-28T18:04:32.153603+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1706","user_name":"Zornitza Stark","item_type":"entity","text":"Tag deafness tag was added to gene: GRXCR1.","entity_name":"GRXCR1","entity_type":"gene"},{"created":"2022-12-28T18:04:08.639013+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1706","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GNS as ready","entity_name":"GNS","entity_type":"gene"},{"created":"2022-12-28T18:04:08.626104+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1706","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gns has been classified as Red List (Low Evidence).","entity_name":"GNS","entity_type":"gene"},{"created":"2022-12-28T18:04:05.024591+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1706","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GNS were changed from Mucopolysaccharidosis IIId to Mucopolysaccharidosis type IIID, MIM#\t252940","entity_name":"GNS","entity_type":"gene"},{"created":"2022-12-28T18:03:37.261624+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1705","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GNS were set to ","entity_name":"GNS","entity_type":"gene"},{"created":"2022-12-28T18:03:26.859878+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1704","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GNS as Red List (low evidence)","entity_name":"GNS","entity_type":"gene"},{"created":"2022-12-28T18:03:26.846816+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1704","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gns has been classified as Red List (Low Evidence).","entity_name":"GNS","entity_type":"gene"},{"created":"2022-12-28T18:01:57.987639+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1703","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GNAS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)","entity_name":"GNAS","entity_type":"gene"},{"created":"2022-12-28T18:01:43.387106+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1702","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GNAS as ready","entity_name":"GNAS","entity_type":"gene"},{"created":"2022-12-28T18:01:43.373030+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1702","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnas has been classified as Green List (High Evidence).","entity_name":"GNAS","entity_type":"gene"},{"created":"2022-12-28T18:01:32.480456+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1702","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: GNAS.\nTag endocrine tag was added to gene: GNAS.","entity_name":"GNAS","entity_type":"gene"},{"created":"2022-12-28T18:01:16.889068+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1702","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudohypoparathyroidism Ia, MIM#103580 (Hypothyroidism); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)","entity_name":"GNAS","entity_type":"gene"},{"created":"2022-12-28T17:59:11.470527+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1702","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GLRA1 as ready","entity_name":"GLRA1","entity_type":"gene"},{"created":"2022-12-28T17:59:11.451980+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1702","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: glra1 has been classified as Green List (High Evidence).","entity_name":"GLRA1","entity_type":"gene"},{"created":"2022-12-28T17:59:07.677270+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1702","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GLRA1 were set to ","entity_name":"GLRA1","entity_type":"gene"},{"created":"2022-12-28T17:58:42.405981+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1701","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: GLRA1.\nTag neurological tag was added to gene: GLRA1.","entity_name":"GLRA1","entity_type":"gene"},{"created":"2022-12-28T17:57:32.988357+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1701","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: GLA.","entity_name":"GLA","entity_type":"gene"},{"created":"2022-12-28T17:57:22.565795+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1701","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GLA: Changed rating: AMBER; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"GLA","entity_type":"gene"},{"created":"2022-12-28T17:57:11.690007+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1701","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: For review: screen only for males or include both?; to: Assessed as 'moderate actionability' in paediatric patients by ClinGen.\r\n\r\nIn classic FD, the first symptoms, including chronic neuropathic pain and episodic severe pain crises, emerge during childhood (typically age 3-10 years). Heterozygous females typically have a later median age of onset than males (9-13 years versus 13-23 years). Rarely, females may be relatively asymptomatic and have a normal life span or may have symptoms as severe as males with the classic phenotype. \r\n\r\nCardiac and/or cerebrovascular disease is present in most males by middle age while ESRD usually develops during the third to fifth decade. Renal and cardiac failure represent major sources of morbidity, and account for the reduced lifespan among affected males (50-58 years) and females (70-75 years) compared to the normal population.\r\n\r\nA systematic review of RCTs of ERT reported on nine studies of 351 FD patients; however, many of these studies reported only on the effect of ERT on levels of enzyme substrate. Data from 2 trials (n=39 males) found no statistically significant differences in plasma enzyme substrate and one trial (n=24 males) found no statistical differences in renal function between individuals treated with agalsidase alfa and placebo (up to 6-month follow-up). Similar results were seen for agalsidase beta. One trial of 26 male patients found a statistically significant difference in pain, favoring agalsidase alfa compared to placebo at 5-6 months after treatment. No trial reported on the effect of agalsidase alfa on mortality or cardiac/cerebrovascular disease. One trial of agalsidase beta (n=82 males and females) found no difference in mortality, renal function, or symptoms or complications of cardiac or cerebrovascular disease over 18 months. The long-term influence of ERT on risk of morbidity and mortality related to FD remains to be established.\r\n\r\nMigalastat, an oral chaperone drug, is recommended as an option for treatment for some patients with FD who are over 16 years with an amenable genetic variant who would usually be offered ERT. For non-amenable genotypes, migalastat may result in a net loss of alpha-Gal A activity, potentially worsening the disease condition.\r\n\r\nA systematic review evaluated 2 phase III RCTs that both included males and females. One RCT randomized patients to switch from ERT to migalastat (n = 36) or continue with ERT (n = 24) during an 18-month period with a 12-month extension in which all patients received migalastat. During the treatment period, the percentage of patients who had a renal, cardiac, or cerebrovascular event or died was 29% of patients on migalastat compared to 44% of patients on ERT. However, this difference was not statistically significant. A second RCT compared migalastat (n=34) with placebo (n=33) over a 6-month period, with an 18-month extension study. The primary outcome was change from baseline in interstitial capillary inclusions of the enzyme substrate globotriaosylceramide (GL-3), which was not significantly different between groups. Results from both trials indicate that migalastat does not have a significant beneficial effect on pain, health-related quality of life outcomes, or glomerular filtration rate (results were uncertain due to large confidence intervals, small sample sizes, and/or short follow-up time). Migalastat did not influence left ventricular ejection fraction but did improve left ventricular mass over 18 months.\r\n\r\nThere are a number of recommendations for surveillance and agents to avoid (amiodarone). There is no consensus as to when ERT should be started.","entity_name":"GLA","entity_type":"gene"},{"created":"2022-12-28T17:50:20.126816+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1701","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GJB2 as ready","entity_name":"GJB2","entity_type":"gene"},{"created":"2022-12-28T17:50:20.113270+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1701","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gjb2 has been classified as Green List (High Evidence).","entity_name":"GJB2","entity_type":"gene"},{"created":"2022-12-28T17:50:16.440433+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1701","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GJB2 were changed from Deafness and palmoplantar keratoderma; Deafness to Deafness, autosomal recessive 1A, MIM# 220290","entity_name":"GJB2","entity_type":"gene"}]}