{"count":220694,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=119","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=117","results":[{"created":"2025-11-24T16:53:02.105861+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.53","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: asic5 has been classified as Red List (Low Evidence).","entity_name":"ASIC5","entity_type":"gene"},{"created":"2025-11-24T16:52:54.590042+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.53","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ASIC5 as Red List (low evidence)","entity_name":"ASIC5","entity_type":"gene"},{"created":"2025-11-24T16:52:54.582409+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.53","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: asic5 has been classified as Red List (Low Evidence).","entity_name":"ASIC5","entity_type":"gene"},{"created":"2025-11-24T16:52:46.805669+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.52","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ASIC5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"ASIC5","entity_type":"gene"},{"created":"2025-11-24T16:49:24.686334+11:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"1.39","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: A4GALT as ready","entity_name":"A4GALT","entity_type":"gene"},{"created":"2025-11-24T16:49:24.678597+11:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"1.39","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: a4galt has been classified as Green List (High Evidence).","entity_name":"A4GALT","entity_type":"gene"},{"created":"2025-11-24T16:49:15.400995+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.79","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: A4GALT as ready","entity_name":"A4GALT","entity_type":"gene"},{"created":"2025-11-24T16:49:15.393730+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.79","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: a4galt has been classified as Green List (High Evidence).","entity_name":"A4GALT","entity_type":"gene"},{"created":"2025-11-24T16:48:56.859466+11:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"1.39","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene A4GALT from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-11-24T16:48:56.788227+11:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"1.39","user_name":"Zornitza Stark","item_type":"entity","text":"gene: A4GALT was added\ngene: A4GALT was added to Red cell disorders. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: A4GALT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: A4GALT were set to 12823750; 15142124; 10747952; 10993874; 11896312; 27612185\nPhenotypes for gene: A4GALT were set to A4GALT-congenital disorder of glycosylation MONDO:0100587","entity_name":"A4GALT","entity_type":"gene"},{"created":"2025-11-24T16:48:56.492470+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.79","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene A4GALT from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-11-24T16:48:56.205567+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.79","user_name":"Zornitza Stark","item_type":"entity","text":"gene: A4GALT was added\ngene: A4GALT was added to Congenital Disorders of Glycosylation. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: A4GALT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: A4GALT were set to 12823750; 15142124; 10747952; 10993874; 11896312; 27612185\nPhenotypes for gene: A4GALT were set to A4GALT-congenital disorder of glycosylation MONDO:0100587","entity_name":"A4GALT","entity_type":"gene"},{"created":"2025-11-24T16:47:41.515897+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3646","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: A4GALT were changed from [Blood group, P1Pk system, p phenotype], MIM# 111400 to A4GALT-congenital disorder of glycosylation MONDO:0100587","entity_name":"A4GALT","entity_type":"gene"},{"created":"2025-11-24T16:47:24.887689+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3645","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: A4GALT were set to ","entity_name":"A4GALT","entity_type":"gene"},{"created":"2025-11-24T16:46:52.155962+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3644","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: A4GALT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"A4GALT","entity_type":"gene"},{"created":"2025-11-24T16:46:38.837152+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3643","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: A4GALT as Green List (high evidence)","entity_name":"A4GALT","entity_type":"gene"},{"created":"2025-11-24T16:46:38.826491+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3643","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: a4galt has been classified as Green List (High Evidence).","entity_name":"A4GALT","entity_type":"gene"},{"created":"2025-11-24T15:41:39.520236+11:00","panel_name":"Cardiac conduction disease","panel_id":4422,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TRPM4 were set to 19726882; 26820365; 21887725; 32681584; 20562447; 25531103; 27207958; 29568272; 29748318; 36352534; 35205305","entity_name":"TRPM4","entity_type":"gene"},{"created":"2025-11-24T15:41:22.948667+11:00","panel_name":"Cardiac conduction disease","panel_id":4422,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TRPM4: Rating: AMBER; Mode of pathogenicity: None; Publications: 41195386; Phenotypes: progressive familial heart block type IB MONDO:0011474; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TRPM4","entity_type":"gene"},{"created":"2025-11-24T14:06:40.931053+11:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.31","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZNF334 as ready","entity_name":"ZNF334","entity_type":"gene"},{"created":"2025-11-24T14:06:40.921138+11:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.31","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: znf334 has been classified as Red List (Low Evidence).","entity_name":"ZNF334","entity_type":"gene"},{"created":"2025-11-24T14:06:30.227080+11:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.31","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene ZNF334 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-11-24T14:06:29.974824+11:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.31","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZNF334 was added\ngene: ZNF334 was added to Autoinflammatory Disorders. Sources: Expert Review Red,Literature\nMode of inheritance for gene: ZNF334 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZNF334 were set to PIMD: 41168503\nPhenotypes for gene: ZNF334 were set to Familial cold autoinflammatory syndrome, MONDO:0018768, ZNF334-related","entity_name":"ZNF334","entity_type":"gene"},{"created":"2025-11-24T14:05:36.589459+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3642","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZNF334 as ready","entity_name":"ZNF334","entity_type":"gene"},{"created":"2025-11-24T14:05:36.581135+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3642","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: znf334 has been classified as Red List (Low Evidence).","entity_name":"ZNF334","entity_type":"gene"},{"created":"2025-11-24T11:35:21.728174+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"1.32","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: SUFU were changed from Joubert syndrome 32, MIM#617757; SUFU-related neurodevelopmental disorder, Joubert-like to Joubert syndrome 32, MIM#617757; Neurodevelopmental disorder, MONDO:0700092, SUFU-related","entity_name":"SUFU","entity_type":"gene"},{"created":"2025-11-24T11:33:53.624136+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.64","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: SUFU were changed from congenital ocular motor apraxia (forme fruste of Joubert syndrome) to Joubert syndrome 32, MIM#617757; Neurodevelopmental disorder, MONDO:0700092, SUFU-related","entity_name":"SUFU","entity_type":"gene"},{"created":"2025-11-24T11:32:29.765165+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.436","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: SUFU were changed from Joubert syndrome 32, MIM#617757; SUFU-related neurodevelopmental syndrome to Joubert syndrome 32, MIM#617757; Neurodevelopmental disorder, MONDO:0700092, SUFU-related","entity_name":"SUFU","entity_type":"gene"},{"created":"2025-11-24T10:47:23.764362+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.281","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NCKAP1 as ready","entity_name":"NCKAP1","entity_type":"gene"},{"created":"2025-11-24T10:47:23.753626+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.281","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nckap1 has been classified as Green List (High Evidence).","entity_name":"NCKAP1","entity_type":"gene"},{"created":"2025-11-24T10:47:15.079422+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.281","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: NCKAP1: 7/17 individuals reported as having seizures.","entity_name":"NCKAP1","entity_type":"gene"},{"created":"2025-11-24T10:41:53.021327+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.281","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene NCKAP1 from panel Intellectual disability syndromic and non-syndromic","entity_name":null,"entity_type":null},{"created":"2025-11-24T10:41:52.713841+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.281","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NCKAP1 was added\ngene: NCKAP1 was added to Genetic Epilepsy. Sources: Expert Review Green,Genetic Health Queensland\nMode of inheritance for gene: NCKAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NCKAP1 were set to 33157009\nPhenotypes for gene: NCKAP1 were set to Neurodevelopmental disorder (MONDO#0700092)​​​​​​​, NCKAP1-related","entity_name":"NCKAP1","entity_type":"gene"},{"created":"2025-11-24T10:29:01.816186+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.472","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GPKOW were set to 28612833; 40221893","entity_name":"GPKOW","entity_type":"gene"},{"created":"2025-11-24T10:28:40.975832+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.364","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GPKOW were set to PMID: 40221893, 28612833","entity_name":"GPKOW","entity_type":"gene"},{"created":"2025-11-24T10:28:19.573109+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.363","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GPKOW was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"GPKOW","entity_type":"gene"},{"created":"2025-11-24T10:27:44.537602+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3642","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GPKOW were set to 28612833; 40221893","entity_name":"GPKOW","entity_type":"gene"},{"created":"2025-11-24T10:26:24.366083+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.362","user_name":"Zornitza Stark","item_type":"panel","text":"Added reviews for gene GPKOW from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-11-24T10:25:44.094269+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.471","user_name":"Zornitza Stark","item_type":"panel","text":"Added reviews for gene GPKOW from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-11-24T10:22:33.610970+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3641","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Possible additional report in PMID 32426895, adult proband, extreme short stature and microcephaly, severe ID. De novo missense p.Gly427Arg.; to: Possible additional report in PMID 32426895, adult proband, extreme short stature and microcephaly, severe ID. De novo missense p.Gly427Arg.\r\n\r\nMODERATE by ClinGen.","entity_name":"GPKOW","entity_type":"gene"},{"created":"2025-11-24T10:21:15.927652+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3641","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GPKOW: Rating: GREEN; Mode of pathogenicity: None; Publications: 32426895; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"GPKOW","entity_type":"gene"},{"created":"2025-11-24T10:16:14.997663+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3641","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: ARFGEF1: DEFINITIVE by ClinGen.","entity_name":"ARFGEF1","entity_type":"gene"},{"created":"2025-11-24T09:00:03.850636+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3641","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COL4A2 were changed from Cerebral Palsy MONDO#0006497, COL4A2-related; Brain small vessel disease 2 MIM# 614483 to Cerebral Palsy MONDO#0006497, COL4A2-related; Brain small vessel disease 2A, autosomal dominant MIM# 614483; Brain small vessel disease 2B, autosomal recessive, MIM# 621414","entity_name":"COL4A2","entity_type":"gene"},{"created":"2025-11-24T08:59:24.101508+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3640","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: COL4A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brain small vessel disease 2B, autosomal recessive, MIM# 621414; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"COL4A2","entity_type":"gene"},{"created":"2025-11-21T17:07:56.492788+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.435","user_name":"Zornitza Stark","item_type":"panel","text":"Added reviews for gene GLS from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-11-21T17:07:12.097493+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.280","user_name":"Zornitza Stark","item_type":"panel","text":"Added reviews for gene GLS from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-11-21T17:06:23.115208+11:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.138","user_name":"Zornitza Stark","item_type":"panel","text":"Added reviews for gene GLS from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-11-21T17:04:20.162313+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"1.22","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BSN as ready","entity_name":"BSN","entity_type":"gene"},{"created":"2025-11-21T17:04:20.152934+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"1.22","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bsn has been classified as Green List (High Evidence).","entity_name":"BSN","entity_type":"gene"},{"created":"2025-11-21T17:04:18.270920+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"1.22","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BSN were changed from Epilepsy; developmental delay; obesity to Neurodevelopmental disorder (MONDO:0700092), BSN-related","entity_name":"BSN","entity_type":"gene"},{"created":"2025-11-21T17:03:55.265082+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"1.21","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BSN as Green List (high evidence)","entity_name":"BSN","entity_type":"gene"},{"created":"2025-11-21T17:03:55.253233+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"1.21","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bsn has been classified as Green List (High Evidence).","entity_name":"BSN","entity_type":"gene"},{"created":"2025-11-21T17:02:52.843502+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3640","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GLB1 were changed from GM1 gangliosidosis MONDO:0018149; GM1-gangliosidosis, type I MIM#230500; GM1-gangliosidosis, type II MIM# 230600; GM1-gangliosidosis, type III MIM#230650; Mucopolysaccharidosis type IVB (Morquio) MIM#253010 to GM1 gangliosidosis MONDO:0018149; Mucopolysaccharidosis type IVB (Morquio) MIM#253010","entity_name":"GLB1","entity_type":"gene"},{"created":"2025-11-21T17:01:20.725493+11:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GBE1 were changed from Glycogen storage disease IV, MIM# 232500 to Glycogen storage disease due to glycogen branching enzyme deficiency MONDO:0009292","entity_name":"GBE1","entity_type":"gene"},{"created":"2025-11-21T17:00:43.300886+11:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GBE1: Changed phenotypes: Glycogen storage disease due to glycogen branching enzyme deficiency MONDO:0009292","entity_name":"GBE1","entity_type":"gene"},{"created":"2025-11-21T17:00:22.036532+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3639","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GBE1 were changed from Glycogen storage disease due to glycogen branching enzyme deficiency MONDO:0009292; Glycogen storage disease IV, MIM# 232500; Polyglucosan body disease, adult form MIM#263570 to Glycogen storage disease due to glycogen branching enzyme deficiency MONDO:0009292","entity_name":"GBE1","entity_type":"gene"},{"created":"2025-11-21T16:59:40.255433+11:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"1.18","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GATA6 were changed from Pancreatic agenesis and congenital heart defects, MIM#\t600001 to GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes MONDO:0100540","entity_name":"GATA6","entity_type":"gene"},{"created":"2025-11-21T16:59:14.277906+11:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"1.17","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GATA6: Changed phenotypes: GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes MONDO:0100540","entity_name":"GATA6","entity_type":"gene"},{"created":"2025-11-21T16:59:01.470142+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.481","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GATA6 were changed from Pancreatic agenesis and congenital heart defects, MIM# 600001 to GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes MONDO:0100540","entity_name":"GATA6","entity_type":"gene"},{"created":"2025-11-21T16:58:33.751807+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.480","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GATA6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes MONDO:0100540; Mode of inheritance: None","entity_name":"GATA6","entity_type":"gene"},{"created":"2025-11-21T16:58:11.322799+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3638","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GATA6 were changed from GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes MONDO:0100540; Pancreatic agenesis and congenital heart defects, 600001; Atrial septal defect 9, 614475; Atrioventricular septal defect 5, 614474; Tetralogy of Fallot, 187500; Persistent truncus arteriosus, 217095 to GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes MONDO:0100540","entity_name":"GATA6","entity_type":"gene"},{"created":"2025-11-21T16:57:29.941042+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.480","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GATA4 were changed from Atrial septal defect 2 MIM#607941; Atrioventricular septal defect 4 MIM#614430; Ventricular septal defect 1 MIM#614429 to Structural congenital heart disease, multiple types - GATA4 MONDO:0100009","entity_name":"GATA4","entity_type":"gene"},{"created":"2025-11-21T16:56:58.719293+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.479","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GATA4: Changed phenotypes: Structural congenital heart disease, multiple types - GATA4 MONDO:0100009","entity_name":"GATA4","entity_type":"gene"},{"created":"2025-11-21T16:56:18.826670+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3637","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GATA4 were changed from Structural congenital heart disease, multiple types - GATA4 MONDO:0100009; Atrial septal defect 2 MIM#607941; Atrioventricular septal defect 4 MIM#614430; Ventricular septal defect 1 MIM#614429 to Structural congenital heart disease, multiple types - GATA4 MONDO:0100009","entity_name":"GATA4","entity_type":"gene"},{"created":"2025-11-21T16:55:16.379730+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.295","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GATA2 were changed from Emberger syndrome, MIM# 614038; Deafness-lymphoedema-leukaemia syndrome MONDO:0013540 to GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982","entity_name":"GATA2","entity_type":"gene"},{"created":"2025-11-21T16:54:53.928919+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.294","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GATA2: Changed phenotypes: GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982","entity_name":"GATA2","entity_type":"gene"},{"created":"2025-11-21T16:54:21.530145+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.130","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GATA2 were changed from Immunodeficiency 21, MIM# 614172; GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982; Emberger syndrome, MIM# 614038; Deafness-lymphoedema-leukaemia syndrome MONDO:0013540 to GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982","entity_name":"GATA2","entity_type":"gene"},{"created":"2025-11-21T16:53:58.001419+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.129","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GATA2: Added comment: Lumped by ClinGen.; Changed phenotypes: GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982","entity_name":"GATA2","entity_type":"gene"},{"created":"2025-11-21T16:53:30.262689+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3636","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GATA2 were changed from Immunodeficiency 21, MIM# 614172; GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982; Emberger syndrome, MIM# 614038; Deafness-lymphoedema-leukaemia syndrome MONDO:0013540 to GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982","entity_name":"GATA2","entity_type":"gene"},{"created":"2025-11-21T16:52:29.887364+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.434","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GAD1 were changed from Cerebral palsy, spastic quadriplegic, 1, MIM#603513; Developmental and epileptic encephalopathy 89, MIM# 619124 to Developmental and epileptic encephalopathy 89, MIM# 619124","entity_name":"GAD1","entity_type":"gene"},{"created":"2025-11-21T16:46:28.665555+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3635","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: GLS were changed from Epileptic encephalopathy, early infantile, 71, MIM#\t618328; Global developmental delay, progressive ataxia, and elevated glutamine, MIM#\t618412; Cataract to Epileptic encephalopathy, early infantile, 71, MIM#618328; Global developmental delay, progressive ataxia, and elevated glutamine, MIM#618412; CASGID syndrome MIM#618339","entity_name":"GLS","entity_type":"gene"},{"created":"2025-11-21T16:44:59.737401+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3634","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: GLS: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: CASGID syndrome MIM#618339; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GLS","entity_type":"gene"},{"created":"2025-11-21T16:31:37.221923+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"1.20","user_name":"Sinead OSullivan","item_type":"entity","text":"gene: BSN was added\ngene: BSN was added to Severe early-onset obesity. Sources: Literature\nMode of inheritance for gene: BSN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BSN were set to 40393460\nPhenotypes for gene: BSN were set to Epilepsy; developmental delay; obesity\nReview for gene: BSN was set to GREEN\nAdded comment: Guzman et al 2025: Described 12 additional patients with missense (3/12) and premature termination variants (9/12) which included de novo and inherited variants, suggesting incomplete penetrance.\r\n\r\nThey assessed all reported patients (n=29) which revealed common clinical characteristics including epilepsy(13/29), febrile seizures (7/29), generalised tonic-clonic seizures (5/29), and focal-onset seizures (3/29). Behavioural phenotypes were present in almost half of all individuals (14/29), which included ADHD (7/29) and autistic behaviour (5/29). Additional common features included developmental delay (11/29), obesity (10/29), and delayed speech (8/29). In adults with BSN PTVs, milder features were common, suggesting phenotypic variability, including a range of individuals without obvious neurodevelopmental features (7/29). \nSources: Literature","entity_name":"BSN","entity_type":"gene"},{"created":"2025-11-21T15:20:48.654243+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3634","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: GLI1 were changed from Polydactyly, postaxial, type A8\tMIM#618123; Polydactyly, preaxial I\tMIM#174400 to Postaxial polydactyly MONDO:0020927, GLI1-related; Polydactyly, postaxial, type A8 MIM#618123; Polydactyly, preaxial I MIM#174400","entity_name":"GLI1","entity_type":"gene"},{"created":"2025-11-21T15:19:16.608078+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3633","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: GLI1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Postaxial polydactyly MONDO:0020927, GLI1-related; Mode of inheritance: None","entity_name":"GLI1","entity_type":"gene"},{"created":"2025-11-21T15:15:49.615508+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3633","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CACNA1A were changed from Episodic ataxia, type 2 MIM#108500 to Developmental and epileptic encephalopathy 42, MIM# 617106","entity_name":"CACNA1A","entity_type":"gene"},{"created":"2025-11-21T14:56:39.891286+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3632","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: GLB1 were changed from GM1-gangliosidosis, type I MIM#230500; GM1-gangliosidosis, type II MIM# 230600; GM1-gangliosidosis, type III MIM#230650; Mucopolysaccharidosis type IVB (Morquio) MIM#253010 to GM1 gangliosidosis MONDO:0018149; GM1-gangliosidosis, type I MIM#230500; GM1-gangliosidosis, type II MIM# 230600; GM1-gangliosidosis, type III MIM#230650; Mucopolysaccharidosis type IVB (Morquio) MIM#253010","entity_name":"GLB1","entity_type":"gene"},{"created":"2025-11-21T14:56:17.221437+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3631","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: GM1 gangliosidosis MONDO:0018149; Mode of inheritance: None","entity_name":"GLB1","entity_type":"gene"},{"created":"2025-11-21T14:52:24.158104+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3631","user_name":"Lucy Spencer","item_type":"entity","text":"commented on gene: GJC2","entity_name":"GJC2","entity_type":"gene"},{"created":"2025-11-21T14:05:39.306525+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3631","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: GBE1 were changed from Glycogen storage disease IV, MIM# 232500; Polyglucosan body disease, adult form MIM#263570 to Glycogen storage disease due to glycogen branching enzyme deficiency MONDO:0009292; Glycogen storage disease IV, MIM# 232500; Polyglucosan body disease, adult form MIM#263570","entity_name":"GBE1","entity_type":"gene"},{"created":"2025-11-21T14:04:42.283542+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3630","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: GBE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease due to glycogen branching enzyme deficiency MONDO:0009292; Mode of inheritance: None","entity_name":"GBE1","entity_type":"gene"},{"created":"2025-11-21T13:58:12.856821+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3630","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: GATA6 were changed from Pancreatic agenesis and congenital heart defects, 600001; Atrial septal defect 9, 614475; Atrioventricular septal defect 5, 614474; Tetralogy of Fallot, 187500; Persistent truncus arteriosus, 217095 to GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes MONDO:0100540; Pancreatic agenesis and congenital heart defects, 600001; Atrial septal defect 9, 614475; Atrioventricular septal defect 5, 614474; Tetralogy of Fallot, 187500; Persistent truncus arteriosus, 217095","entity_name":"GATA6","entity_type":"gene"},{"created":"2025-11-21T13:57:16.787594+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3629","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: GATA6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes MONDO:0100540; Mode of inheritance: None","entity_name":"GATA6","entity_type":"gene"},{"created":"2025-11-21T13:54:01.039988+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3629","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: GATA4 were changed from Atrial septal defect 2 MIM#607941; Atrioventricular septal defect 4 MIM#614430; Ventricular septal defect 1 MIM#614429 to Structural congenital heart disease, multiple types - GATA4 MONDO:0100009; Atrial septal defect 2 MIM#607941; Atrioventricular septal defect 4 MIM#614430; Ventricular septal defect 1 MIM#614429","entity_name":"GATA4","entity_type":"gene"},{"created":"2025-11-21T13:53:02.617221+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3628","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: GATA4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Structural congenital heart disease, multiple types - GATA4 MONDO:0100009; Mode of inheritance: None","entity_name":"GATA4","entity_type":"gene"},{"created":"2025-11-21T13:48:14.553324+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3628","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: GATA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982; Mode of inheritance: None","entity_name":"GATA2","entity_type":"gene"},{"created":"2025-11-21T13:37:15.538791+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3628","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: GAD1 were changed from Cerebral palsy, spastic quadriplegic, 1, MIM#603513; Developmental and epileptic encephalopathy 89, MIM# 619124 to Developmental and epileptic encephalopathy 89, MIM# 619124","entity_name":"GAD1","entity_type":"gene"},{"created":"2025-11-21T13:35:33.969338+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3627","user_name":"Lucy Spencer","item_type":"entity","text":"commented on gene: GAD1","entity_name":"GAD1","entity_type":"gene"},{"created":"2025-11-21T11:58:36.753844+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.100","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WDR45 as ready","entity_name":"WDR45","entity_type":"gene"},{"created":"2025-11-21T11:58:36.743953+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.100","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wdr45 has been classified as Amber List (Moderate Evidence).","entity_name":"WDR45","entity_type":"gene"},{"created":"2025-11-21T11:58:29.638877+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.100","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: WDR45: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"WDR45","entity_type":"gene"},{"created":"2025-11-21T11:55:51.823710+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.100","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PSMG2 as ready","entity_name":"PSMG2","entity_type":"gene"},{"created":"2025-11-21T11:55:51.813925+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.100","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: psmg2 has been classified as Red List (Low Evidence).","entity_name":"PSMG2","entity_type":"gene"},{"created":"2025-11-21T11:55:24.412634+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.100","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C1QB as ready","entity_name":"C1QB","entity_type":"gene"},{"created":"2025-11-21T11:55:24.402692+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.100","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c1qb has been classified as Red List (Low Evidence).","entity_name":"C1QB","entity_type":"gene"},{"created":"2025-11-21T10:58:51.331078+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.110","user_name":"Sinead OSullivan","item_type":"entity","text":"gene: ALDH4A1 was added\ngene: ALDH4A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Literature\nMode of inheritance for gene: ALDH4A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALDH4A1 were set to 9700195 34037900 31884946\nReview for gene: ALDH4A1 was set to GREEN\nAdded comment: At least 5 unrelated families reported, clinical features are predominantly ID and seizures. \nSources: Literature","entity_name":"ALDH4A1","entity_type":"gene"},{"created":"2025-11-21T10:30:09.674652+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.100","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RRP12 as ready","entity_name":"RRP12","entity_type":"gene"},{"created":"2025-11-21T10:30:09.664783+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.100","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rrp12 has been classified as Amber List (Moderate Evidence).","entity_name":"RRP12","entity_type":"gene"},{"created":"2025-11-21T10:01:15.597689+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.433","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CACNA1A were set to 27476654; 33985586","entity_name":"CACNA1A","entity_type":"gene"},{"created":"2025-11-21T10:00:41.727654+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.432","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CACNA1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CACNA1A","entity_type":"gene"}]}