{"count":221416,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=514","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=512","results":[{"created":"2023-12-01T13:34:30.709909+11:00","panel_name":"Osteogenesis Imperfecta and Osteoporosis","panel_id":147,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PHLDB1 were changed from osteogenesis imperfecta, MONDO:0019019 to Osteogenesis imperfecta, type XXIII, MIM# 620639","entity_name":"PHLDB1","entity_type":"gene"},{"created":"2023-12-01T13:34:00.196988+11:00","panel_name":"Osteogenesis Imperfecta and Osteoporosis","panel_id":147,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PHLDB1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteogenesis imperfecta, type XXIII, MIM# 620639; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PHLDB1","entity_type":"gene"},{"created":"2023-12-01T13:33:40.044650+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1386","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PHLDB1 were changed from osteogenesis imperfecta, MONDO:0019019 to Osteogenesis imperfecta, type XXIII, MIM# 620639","entity_name":"PHLDB1","entity_type":"gene"},{"created":"2023-12-01T13:33:16.695645+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1385","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PHLDB1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteogenesis imperfecta, type XXIII, MIM# 620639; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PHLDB1","entity_type":"gene"},{"created":"2023-12-01T12:03:53.845776+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1947","user_name":"John Coleman","item_type":"entity","text":"changed review comment from: 11 individuals from 6 families with loss of function, bi-allelic variants in ABHD16A. 2 unrelated families (1 French-Canadian, 1 Armenian) with different homozygous variants have seizures reported. 1 patient with myoclonic seizure type reported. No direct phenotype for other patient. Immunoblot from the fibroblasts demonstrated recued ABHD16A for these families. Strong neurodevelopmental phenotype. Other paper with Homozygotes family 1 of 4 individuals presenting with febrile convulsions. ABHD16A is a phospholipase that converts PS to Lyso PS. It is present in all cell types but most abundant in neurological tissue and involved in a key process of neurophysiology. Present in callosome, intellectual disability and HSP panels. \r\nSources: Literature; to: 11 individuals from 6 families with loss of function, bi-allelic variants in ABHD16A. 2 unrelated families (1 French-Canadian, 1 Armenian) with different homozygous variants have seizures reported. 1 patient with myoclonic seizure type reported. No direct phenotype for other patient. Immunoblot from the fibroblasts demonstrated recued ABHD16A for these families. Strong neurodevelopmental phenotype. Other paper with Homozygotes family 1 of 4 individuals presenting with febrile convulsions. ABHD16A is a phospholipase that converts PS to Lyso PS. It is present in all cell types but most abundant in neurological tissue and involved in a key process of neurophysiology. Present in callosome, intellectual disability and HSP panels. ?Moderate \r\nSources: Literature","entity_name":"ABHD16A","entity_type":"gene"},{"created":"2023-12-01T12:02:19.719421+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1947","user_name":"John Coleman","item_type":"entity","text":"changed review comment from: 11 individuals from 6 families with loss of function, bi-allelic variants in ABHD16A. 2 unrelated families (1 French-Canadian, 1 Armenian) with different homozygous variants have seizures reported. 1 patient with myoclonic seizure type reported. No direct phenotype for other patient. Immunoblot from the fibroblasts demonstrated recued ABHD16A for these families. Strong neurodevelopmental phenotype. Other paper with Homozygotes family 1 of 4 individuals presenting with febrile convulsions ABHD16A is a phospholipase that converts PS to Lyso PS. It is present in all cell types but most abundant in neurological tissue and involved in a key process of neurophysiology. Present in callosome, intellectual disability and HSP panels. \nSources: Literature; to: 11 individuals from 6 families with loss of function, bi-allelic variants in ABHD16A. 2 unrelated families (1 French-Canadian, 1 Armenian) with different homozygous variants have seizures reported. 1 patient with myoclonic seizure type reported. No direct phenotype for other patient. Immunoblot from the fibroblasts demonstrated recued ABHD16A for these families. Strong neurodevelopmental phenotype. Other paper with Homozygotes family 1 of 4 individuals presenting with febrile convulsions. ABHD16A is a phospholipase that converts PS to Lyso PS. It is present in all cell types but most abundant in neurological tissue and involved in a key process of neurophysiology. Present in callosome, intellectual disability and HSP panels. \r\nSources: Literature","entity_name":"ABHD16A","entity_type":"gene"},{"created":"2023-12-01T12:01:34.746391+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1947","user_name":"John Coleman","item_type":"entity","text":"gene: ABHD16A was added\ngene: ABHD16A was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: ABHD16A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ABHD16A were set to (PMID: 34587489,34489854; 32462874)\nPhenotypes for gene: ABHD16A were set to seizures; myoclonic seizures; developmental delay\nPenetrance for gene: ABHD16A were set to Incomplete\nReview for gene: ABHD16A was set to RED\nAdded comment: 11 individuals from 6 families with loss of function, bi-allelic variants in ABHD16A. 2 unrelated families (1 French-Canadian, 1 Armenian) with different homozygous variants have seizures reported. 1 patient with myoclonic seizure type reported. No direct phenotype for other patient. Immunoblot from the fibroblasts demonstrated recued ABHD16A for these families. Strong neurodevelopmental phenotype. Other paper with Homozygotes family 1 of 4 individuals presenting with febrile convulsions ABHD16A is a phospholipase that converts PS to Lyso PS. It is present in all cell types but most abundant in neurological tissue and involved in a key process of neurophysiology. Present in callosome, intellectual disability and HSP panels. \nSources: Literature","entity_name":"ABHD16A","entity_type":"gene"},{"created":"2023-11-30T12:52:22.905572+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1385","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FLII were changed from Dilated cardiomyopathy MONDO:0005021 to Cardiomyopathy, dilated, 2J, MIM# 620635","entity_name":"FLII","entity_type":"gene"},{"created":"2023-11-30T12:52:03.277547+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1384","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FLII: Changed phenotypes: Cardiomyopathy, dilated, 2J, MIM# 620635","entity_name":"FLII","entity_type":"gene"},{"created":"2023-11-30T12:51:45.645910+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.174","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FLII were changed from Dilated cardiomyopathy to Cardiomyopathy, dilated, 2J, MIM# 620635","entity_name":"FLII","entity_type":"gene"},{"created":"2023-11-30T12:51:29.788746+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FLII: Changed phenotypes: Cardiomyopathy, dilated, 2J, MIM# 620635","entity_name":"FLII","entity_type":"gene"},{"created":"2023-11-30T12:50:05.279134+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"1.30","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RNF31 as ready","entity_name":"RNF31","entity_type":"gene"},{"created":"2023-11-30T12:50:05.255910+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"1.30","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnf31 has been classified as Amber List (Moderate Evidence).","entity_name":"RNF31","entity_type":"gene"},{"created":"2023-11-30T12:49:08.984662+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"1.30","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RNF31 as Amber List (moderate evidence)","entity_name":"RNF31","entity_type":"gene"},{"created":"2023-11-30T12:49:08.970665+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"1.30","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnf31 has been classified as Amber List (Moderate Evidence).","entity_name":"RNF31","entity_type":"gene"},{"created":"2023-11-30T12:48:38.869696+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"1.29","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RNF31 was added\ngene: RNF31 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert Review\nMode of inheritance for gene: RNF31 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNF31 were set to 26008899; 30936877\nPhenotypes for gene: RNF31 were set to Immunodeficiency 115 with autoinflammation, MIM# 620632\nReview for gene: RNF31 was set to AMBER\nAdded comment: Two unrelated individuals reported. \nSources: Expert Review","entity_name":"RNF31","entity_type":"gene"},{"created":"2023-11-30T12:47:13.304719+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.52","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RNF31 were changed from Immune deficiency; Autoinflammation to Immunodeficiency 115 with autoinflammation, MIM# 620632","entity_name":"RNF31","entity_type":"gene"},{"created":"2023-11-30T12:46:41.749153+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.51","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RNF31: Changed phenotypes: Immunodeficiency 115 with autoinflammation, MIM# 620632","entity_name":"RNF31","entity_type":"gene"},{"created":"2023-11-30T12:46:21.785161+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1384","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RNF31 were changed from Immune deficiency; Autoinflammation to Immunodeficiency 115 with autoinflammation, MIM# 620632","entity_name":"RNF31","entity_type":"gene"},{"created":"2023-11-30T12:45:57.989107+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1383","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RNF31: Changed phenotypes: Immunodeficiency 115 with autoinflammation, MIM# 620632","entity_name":"RNF31","entity_type":"gene"},{"created":"2023-11-30T09:16:30.839773+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.895","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TANGO2 as ready","entity_name":"TANGO2","entity_type":"gene"},{"created":"2023-11-30T09:16:30.826352+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.895","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tango2 has been classified as Green List (High Evidence).","entity_name":"TANGO2","entity_type":"gene"},{"created":"2023-11-30T09:16:13.324187+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.895","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TANGO2 as Green List (high evidence)","entity_name":"TANGO2","entity_type":"gene"},{"created":"2023-11-30T09:16:13.309570+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.895","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tango2 has been classified as Green List (High Evidence).","entity_name":"TANGO2","entity_type":"gene"},{"created":"2023-11-30T09:15:33.419584+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.894","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TANGO2 was added\ngene: TANGO2 was added to Mitochondrial disease. Sources: Expert Review\nMode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM#\t616878\nReview for gene: TANGO2 was set to GREEN\nAdded comment: Large phenotypic overlap with mitochondrial disease. \nSources: Expert Review","entity_name":"TANGO2","entity_type":"gene"},{"created":"2023-11-27T20:01:35.135724+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.409","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GATA4 as ready","entity_name":"GATA4","entity_type":"gene"},{"created":"2023-11-27T20:01:35.122153+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.409","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gata4 has been classified as Green List (High Evidence).","entity_name":"GATA4","entity_type":"gene"},{"created":"2023-11-27T20:01:31.612140+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.409","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GATA4 were changed from  to 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":"2023-11-27T19:58:41.606460+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.408","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GATA4 were set to ","entity_name":"GATA4","entity_type":"gene"},{"created":"2023-11-27T19:58:08.993038+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.407","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GATA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GATA4","entity_type":"gene"},{"created":"2023-11-27T19:57:35.575738+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.406","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GATA4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrial septal defect 2 MIM#607941, Atrioventricular septal defect 4 MIM#614430, Ventricular septal defect 1 MIM#614429; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GATA4","entity_type":"gene"},{"created":"2023-11-27T15:13:27.132805+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5618","user_name":"Elena Savva","item_type":"entity","text":"Mode of inheritance for gene: WDR11 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"WDR11","entity_type":"gene"},{"created":"2023-11-26T13:59:34.962530+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.406","user_name":"Sharyn Stockmyer","item_type":"entity","text":"reviewed gene: GATA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 15810002, 12845333, 22101736, 18672102, 24000169, 29377543, 28991257; Phenotypes: Congenital heart disease - multiple types; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GATA4","entity_type":"gene"},{"created":"2023-11-24T18:35:59.343475+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.406","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EVC2 as ready","entity_name":"EVC2","entity_type":"gene"},{"created":"2023-11-24T18:35:59.310398+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.406","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: evc2 has been classified as Green List (High Evidence).","entity_name":"EVC2","entity_type":"gene"},{"created":"2023-11-24T18:35:52.511141+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.406","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EVC2 were changed from  to Ellis-van Creveld syndrome (MIM#225500)","entity_name":"EVC2","entity_type":"gene"},{"created":"2023-11-24T18:35:23.322338+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.405","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EVC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"EVC2","entity_type":"gene"},{"created":"2023-11-24T18:34:51.483712+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.404","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EVC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ellis-van Creveld syndrome (MIM#225500); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"EVC2","entity_type":"gene"},{"created":"2023-11-24T18:34:11.534569+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.404","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EVC as ready","entity_name":"EVC","entity_type":"gene"},{"created":"2023-11-24T18:34:11.519988+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.404","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: evc has been classified as Green List (High Evidence).","entity_name":"EVC","entity_type":"gene"},{"created":"2023-11-24T18:34:03.118500+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.404","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EVC were changed from  to Ellis-van Creveld syndrome, MIM# 225500","entity_name":"EVC","entity_type":"gene"},{"created":"2023-11-24T18:33:34.848702+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.403","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EVC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"EVC","entity_type":"gene"},{"created":"2023-11-24T18:32:58.619813+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.402","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EVC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ellis-van Creveld syndrome, MIM# 225500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"EVC","entity_type":"gene"},{"created":"2023-11-24T18:31:58.207088+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.402","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ELN as ready","entity_name":"ELN","entity_type":"gene"},{"created":"2023-11-24T18:31:58.193816+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.402","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eln has been classified as Green List (High Evidence).","entity_name":"ELN","entity_type":"gene"},{"created":"2023-11-24T18:27:00.939165+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.402","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ELN were changed from  to Supravalvar aortic stenosis, MIM# 185500","entity_name":"ELN","entity_type":"gene"},{"created":"2023-11-24T18:26:30.126586+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.401","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ELN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ELN","entity_type":"gene"},{"created":"2023-11-24T18:26:01.122015+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.400","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ELN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Supravalvar aortic stenosis, MIM# 185500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ELN","entity_type":"gene"},{"created":"2023-11-24T18:25:23.419437+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.400","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CREBBP as ready","entity_name":"CREBBP","entity_type":"gene"},{"created":"2023-11-24T18:25:23.409431+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.400","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: crebbp has been classified as Green List (High Evidence).","entity_name":"CREBBP","entity_type":"gene"},{"created":"2023-11-24T18:25:20.212400+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.400","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CREBBP were changed from  to Rubinstein-Taybi syndrome 1 , MIM#180849","entity_name":"CREBBP","entity_type":"gene"},{"created":"2023-11-24T18:24:49.083220+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.399","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CREBBP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CREBBP","entity_type":"gene"},{"created":"2023-11-24T18:24:18.551442+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.398","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CREBBP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Rubinstein-Taybi syndrome 1 , MIM#180849; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CREBBP","entity_type":"gene"},{"created":"2023-11-24T18:22:56.977041+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.398","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BMPR2 as ready","entity_name":"BMPR2","entity_type":"gene"},{"created":"2023-11-24T18:22:56.962561+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.398","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bmpr2 has been classified as Red List (Low Evidence).","entity_name":"BMPR2","entity_type":"gene"},{"created":"2023-11-24T18:22:53.323684+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.398","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BMPR2 were changed from  to Pulmonary hypertension, familial primary, 1, with or without HHT MIM#178600 Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated MIM#178600 Pulmonary venoocclusive disease 1 MIM#265450","entity_name":"BMPR2","entity_type":"gene"},{"created":"2023-11-24T18:22:08.945048+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.397","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BMPR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"BMPR2","entity_type":"gene"},{"created":"2023-11-24T18:21:41.965541+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.396","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BMPR2 as Red List (low evidence)","entity_name":"BMPR2","entity_type":"gene"},{"created":"2023-11-24T18:21:41.949182+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.396","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bmpr2 has been classified as Red List (Low Evidence).","entity_name":"BMPR2","entity_type":"gene"},{"created":"2023-11-24T18:10:29.904149+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.395","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BMPR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary hypertension, familial primary, 1, with or without HHT MIM#178600 Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated MIM#178600 Pulmonary venoocclusive disease 1 MIM#265450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"BMPR2","entity_type":"gene"},{"created":"2023-11-24T18:08:15.547490+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.395","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: B3GAT3 as ready","entity_name":"B3GAT3","entity_type":"gene"},{"created":"2023-11-24T18:08:15.539016+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.395","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: b3gat3 has been classified as Green List (High Evidence).","entity_name":"B3GAT3","entity_type":"gene"},{"created":"2023-11-24T18:08:12.911585+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.395","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: B3GAT3 were changed from  to Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects -MIM#245600","entity_name":"B3GAT3","entity_type":"gene"},{"created":"2023-11-24T18:07:50.442260+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.394","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: B3GAT3 were set to ","entity_name":"B3GAT3","entity_type":"gene"},{"created":"2023-11-24T18:07:21.962853+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.393","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: B3GAT3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"B3GAT3","entity_type":"gene"},{"created":"2023-11-24T18:06:45.703123+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.392","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: B3GAT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26754439, 31988067, 26086840, 25893793, 21763480, 24668659; Phenotypes: Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects -MIM#245600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"B3GAT3","entity_type":"gene"},{"created":"2023-11-24T17:59:57.593457+11:00","panel_name":"Eye Anterior Segment Abnormalities","panel_id":43,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ASPH as ready","entity_name":"ASPH","entity_type":"gene"},{"created":"2023-11-24T17:59:57.580162+11:00","panel_name":"Eye Anterior Segment Abnormalities","panel_id":43,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: asph has been classified as Green List (High Evidence).","entity_name":"ASPH","entity_type":"gene"},{"created":"2023-11-24T17:59:49.460706+11:00","panel_name":"Eye Anterior Segment Abnormalities","panel_id":43,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ASPH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Traboulsi syndrome , MIM#601552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ASPH","entity_type":"gene"},{"created":"2023-11-24T17:58:09.900548+11:00","panel_name":"Eye Anterior Segment Abnormalities","panel_id":43,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LTBP2 as ready","entity_name":"LTBP2","entity_type":"gene"},{"created":"2023-11-24T17:58:09.887949+11:00","panel_name":"Eye Anterior Segment Abnormalities","panel_id":43,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ltbp2 has been classified as Green List (High Evidence).","entity_name":"LTBP2","entity_type":"gene"},{"created":"2023-11-24T17:58:05.216335+11:00","panel_name":"Eye Anterior Segment Abnormalities","panel_id":43,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LTBP2 as Green List (high evidence)","entity_name":"LTBP2","entity_type":"gene"},{"created":"2023-11-24T17:58:05.207143+11:00","panel_name":"Eye Anterior Segment Abnormalities","panel_id":43,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ltbp2 has been classified as Green List (High Evidence).","entity_name":"LTBP2","entity_type":"gene"},{"created":"2023-11-24T15:13:55.304232+11:00","panel_name":"Eye Anterior Segment Abnormalities","panel_id":43,"panel_version":"1.11","user_name":"Elena Savva","item_type":"entity","text":"gene: LTBP2 was added\ngene: LTBP2 was added to Eye Anterior Segment Abnormalities. Sources: Literature\nMode of inheritance for gene: LTBP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LTBP2 were set to Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma MIM#251750\nReview for gene: LTBP2 was set to GREEN\nAdded comment: Established gene-disease association \nSources: Literature","entity_name":"LTBP2","entity_type":"gene"},{"created":"2023-11-24T15:11:01.527819+11:00","panel_name":"Eye Anterior Segment Abnormalities","panel_id":43,"panel_version":"1.10","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: FBN1 as Green List (high evidence)","entity_name":"FBN1","entity_type":"gene"},{"created":"2023-11-24T15:11:01.490796+11:00","panel_name":"Eye Anterior Segment Abnormalities","panel_id":43,"panel_version":"1.10","user_name":"Elena Savva","item_type":"entity","text":"Gene: fbn1 has been classified as Green List (High Evidence).","entity_name":"FBN1","entity_type":"gene"},{"created":"2023-11-24T15:10:23.044328+11:00","panel_name":"Eye Anterior Segment Abnormalities","panel_id":43,"panel_version":"1.9","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: FBN1 as Green List (high evidence)","entity_name":"FBN1","entity_type":"gene"},{"created":"2023-11-24T15:10:23.027915+11:00","panel_name":"Eye Anterior Segment Abnormalities","panel_id":43,"panel_version":"1.9","user_name":"Elena Savva","item_type":"entity","text":"Gene: fbn1 has been classified as Green List (High Evidence).","entity_name":"FBN1","entity_type":"gene"},{"created":"2023-11-24T15:10:10.244034+11:00","panel_name":"Eye Anterior Segment Abnormalities","panel_id":43,"panel_version":"1.8","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: FBN1 as ready","entity_name":"FBN1","entity_type":"gene"},{"created":"2023-11-24T15:10:10.228473+11:00","panel_name":"Eye Anterior Segment Abnormalities","panel_id":43,"panel_version":"1.8","user_name":"Elena Savva","item_type":"entity","text":"Gene: fbn1 has been classified as Red List (Low Evidence).","entity_name":"FBN1","entity_type":"gene"},{"created":"2023-11-24T15:09:52.517214+11:00","panel_name":"Eye Anterior Segment Abnormalities","panel_id":43,"panel_version":"1.8","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: ADAMTSL4 as Green List (high evidence)","entity_name":"ADAMTSL4","entity_type":"gene"},{"created":"2023-11-24T15:09:52.492214+11:00","panel_name":"Eye Anterior Segment Abnormalities","panel_id":43,"panel_version":"1.8","user_name":"Elena Savva","item_type":"entity","text":"Gene: adamtsl4 has been classified as Green List (High Evidence).","entity_name":"ADAMTSL4","entity_type":"gene"},{"created":"2023-11-24T15:09:02.604524+11:00","panel_name":"Eye Anterior Segment Abnormalities","panel_id":43,"panel_version":"1.7","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: ADAMTSL4 as Green List (high evidence)","entity_name":"ADAMTSL4","entity_type":"gene"},{"created":"2023-11-24T15:09:02.592185+11:00","panel_name":"Eye Anterior Segment Abnormalities","panel_id":43,"panel_version":"1.7","user_name":"Elena Savva","item_type":"entity","text":"Gene: adamtsl4 has been classified as Green List (High Evidence).","entity_name":"ADAMTSL4","entity_type":"gene"},{"created":"2023-11-24T15:08:41.090847+11:00","panel_name":"Eye Anterior Segment Abnormalities","panel_id":43,"panel_version":"1.7","user_name":"Elena Savva","item_type":"entity","text":"gene: FBN1 was added\ngene: FBN1 was added to Eye Anterior Segment Abnormalities. Sources: Literature\nMode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: FBN1 were set to Ectopia lentis, familial (MIM#129600)\nReview for gene: FBN1 was set to GREEN\nAdded comment: Established gene-disease association \nSources: Literature","entity_name":"FBN1","entity_type":"gene"},{"created":"2023-11-24T15:08:35.280743+11:00","panel_name":"Eye Anterior Segment Abnormalities","panel_id":43,"panel_version":"1.6","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: ADAMTSL4 as ready","entity_name":"ADAMTSL4","entity_type":"gene"},{"created":"2023-11-24T15:08:35.267960+11:00","panel_name":"Eye Anterior Segment Abnormalities","panel_id":43,"panel_version":"1.6","user_name":"Elena Savva","item_type":"entity","text":"Gene: adamtsl4 has been classified as Red List (Low Evidence).","entity_name":"ADAMTSL4","entity_type":"gene"},{"created":"2023-11-24T15:06:40.890912+11:00","panel_name":"Eye Anterior Segment Abnormalities","panel_id":43,"panel_version":"1.6","user_name":"Elena Savva","item_type":"entity","text":"gene: ADAMTSL4 was added\ngene: ADAMTSL4 was added to Eye Anterior Segment Abnormalities. Sources: Literature\nMode of inheritance for gene: ADAMTSL4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADAMTSL4 were set to Ectopia lentis et pupillae, AR (MIM#225200); Isolated ectopia lentis, autosomal recessive, AR (MIM#225100), Craniosynostosis with ectopia lentis, AR (MONDO#0011347)\nReview for gene: ADAMTSL4 was set to GREEN\nAdded comment: Established phenotypic association to ectopia lentis \nSources: Literature","entity_name":"ADAMTSL4","entity_type":"gene"},{"created":"2023-11-24T13:27:19.780469+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.392","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMC3 as ready","entity_name":"SMC3","entity_type":"gene"},{"created":"2023-11-24T13:27:19.768029+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.392","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smc3 has been classified as Green List (High Evidence).","entity_name":"SMC3","entity_type":"gene"},{"created":"2023-11-24T13:27:17.243874+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.392","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SMC3 were changed from  to Cornelia de Lange syndrome 3, MIM# 610759","entity_name":"SMC3","entity_type":"gene"},{"created":"2023-11-24T13:26:46.962742+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.391","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SMC3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SMC3","entity_type":"gene"},{"created":"2023-11-24T13:26:16.929656+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.390","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SMC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cornelia de Lange syndrome 3, MIM# 610759; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SMC3","entity_type":"gene"},{"created":"2023-11-24T13:25:30.819860+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.390","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SOS1 as ready","entity_name":"SOS1","entity_type":"gene"},{"created":"2023-11-24T13:25:30.807596+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.390","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sos1 has been classified as Green List (High Evidence).","entity_name":"SOS1","entity_type":"gene"},{"created":"2023-11-24T13:25:28.240081+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.390","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SOS1 were changed from  to Noonan syndrome 4, MIM# 610733","entity_name":"SOS1","entity_type":"gene"},{"created":"2023-11-24T13:24:57.186722+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.389","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SOS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SOS1","entity_type":"gene"},{"created":"2023-11-24T13:24:27.899420+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.388","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SOS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome 4, MIM# 610733; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SOS1","entity_type":"gene"},{"created":"2023-11-24T13:23:41.443536+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.388","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STRA6 as ready","entity_name":"STRA6","entity_type":"gene"},{"created":"2023-11-24T13:23:41.432659+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.388","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stra6 has been classified as Green List (High Evidence).","entity_name":"STRA6","entity_type":"gene"}]}