{"count":220497,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=88","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=86","results":[{"created":"2025-12-16T13:17:54.759254+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.503","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37418-Loss was added\nRegion: ISCA-37418-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,ClinGen,NHS GMS\nMode of inheritance for Region: ISCA-37418-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for Region: ISCA-37418-Loss were set to Potocki-Lupski syndrome; Smith-Magenis syndrome; moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems; 182290; Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance; hypotonia, failure to thrive, mental retardation, pervasive developmental disorders, congenital anomalies; Dental abnormalities; hypotonia, poor feeding, failure to thrive, developmental delay particularly cognitive and language deficity, mild-moderate intellectual deficit, and neuropsychiatric disorders","entity_name":"ISCA-37418-Loss","entity_type":"region"},{"created":"2025-12-16T13:17:14.514160+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.145","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37418-Loss from panel Skeletal dysplasia","entity_name":null,"entity_type":null},{"created":"2025-12-16T13:17:14.471219+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.145","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37418-Loss was added\nRegion: ISCA-37418-Loss was added to Common deletion and duplication syndromes. Sources: Expert Review Green,ClinGen,NHS GMS\nMode of inheritance for Region: ISCA-37418-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for Region: ISCA-37418-Loss were set to Potocki-Lupski syndrome; Smith-Magenis syndrome; moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems; 182290; Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance; hypotonia, failure to thrive, mental retardation, pervasive developmental disorders, congenital anomalies; Dental abnormalities; hypotonia, poor feeding, failure to thrive, developmental delay particularly cognitive and language deficity, mild-moderate intellectual deficit, and neuropsychiatric disorders","entity_name":"ISCA-37418-Loss","entity_type":"region"},{"created":"2025-12-16T13:16:54.114918+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.364","user_name":"Sarah Milton","item_type":"entity","text":"reviewed Region: ISCA-37418-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301487, 37628566; Phenotypes: Smith-Magenis syndrome, MIM#182290; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ISCA-37418-Loss","entity_type":"region"},{"created":"2025-12-16T13:13:29.289583+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.502","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37418-Gain from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2025-12-16T13:13:26.182842+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.502","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37418-Gain was added\nRegion: ISCA-37418-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37418-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-37418-Gain were set to Potocki-Lupski syndrome, MIM#\t610883; intellectual disability; hypotonia; congenital anomalies","entity_name":"ISCA-37418-Gain","entity_type":"region"},{"created":"2025-12-16T13:12:44.471249+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.511","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37418-Gain from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2025-12-16T13:12:44.306237+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.511","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37418-Gain was added\nRegion: ISCA-37418-Gain was added to Congenital Heart Defect. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37418-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-37418-Gain were set to Potocki-Lupski syndrome, MIM#\t610883; intellectual disability; hypotonia; congenital anomalies","entity_name":"ISCA-37418-Gain","entity_type":"region"},{"created":"2025-12-16T13:09:56.290289+11:00","panel_name":"Ichthyosis and Porokeratosis","panel_id":124,"panel_version":"1.23","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37417-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2025-12-16T13:09:56.145382+11:00","panel_name":"Ichthyosis and Porokeratosis","panel_id":124,"panel_version":"1.23","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37417-Loss was added\nRegion: ISCA-37417-Loss was added to Ichthyosis and Porokeratosis. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37417-Loss was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for Region: ISCA-37417-Loss were set to Ichthyosis, X-linked, MIM#\t308100","entity_name":"ISCA-37417-Loss","entity_type":"region"},{"created":"2025-12-16T13:06:46.127248+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.501","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37415-Gain from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2025-12-16T13:06:45.797083+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.501","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37415-Gain was added\nRegion: ISCA-37415-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37415-Gain.\nMode of inheritance for Region: ISCA-37415-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37415-Gain were set to 30287593\nPhenotypes for Region: ISCA-37415-Gain were set to 16p13.11 microduplication syndrome; intellectual disability; autism; aortopathy","entity_name":"ISCA-37415-Gain","entity_type":"region"},{"created":"2025-12-16T13:05:08.872272+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.500","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37411-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2025-12-16T13:05:08.434259+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.500","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37411-Loss was added\nRegion: ISCA-37411-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37411-Loss.\nMode of inheritance for Region: ISCA-37411-Loss was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for Region: ISCA-37411-Loss were set to 19372089; 20979196\nPhenotypes for Region: ISCA-37411-Loss were set to Chromosome 15q13.3 microdeletion syndrome, MIM#\t612001; intellectual disability; epilepsy","entity_name":"ISCA-37411-Loss","entity_type":"region"},{"created":"2025-12-16T13:04:25.091670+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.309","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37411-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2025-12-16T13:04:24.713682+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.309","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37411-Loss was added\nRegion: ISCA-37411-Loss was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37411-Loss.\nMode of inheritance for Region: ISCA-37411-Loss was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for Region: ISCA-37411-Loss were set to 19372089; 20979196\nPhenotypes for Region: ISCA-37411-Loss were set to Chromosome 15q13.3 microdeletion syndrome, MIM#\t612001; intellectual disability; epilepsy","entity_name":"ISCA-37411-Loss","entity_type":"region"},{"created":"2025-12-16T12:58:21.989617+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.376","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37406-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2025-12-16T12:58:21.837354+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.376","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37406-Loss was added\nRegion: ISCA-37406-Loss was added to Microcephaly. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37406-Loss.\nMode of inheritance for Region: ISCA-37406-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37406-Loss were set to 20101707; 17473832; 16783566\nPhenotypes for Region: ISCA-37406-Loss were set to Chromosome 16p13.3 deletion syndrome, Rubinstein-Taybi deletion syndrome","entity_name":"ISCA-37406-Loss","entity_type":"region"},{"created":"2025-12-16T12:57:41.130287+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.499","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37406-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2025-12-16T12:57:40.778655+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.499","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37406-Loss was added\nRegion: ISCA-37406-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37406-Loss.\nMode of inheritance for Region: ISCA-37406-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37406-Loss were set to 20101707; 17473832; 16783566\nPhenotypes for Region: ISCA-37406-Loss were set to Chromosome 16p13.3 deletion syndrome, Rubinstein-Taybi deletion syndrome","entity_name":"ISCA-37406-Loss","entity_type":"region"},{"created":"2025-12-16T12:57:04.386717+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.235","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37405-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2025-12-16T12:57:04.322686+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.235","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37405-Loss was added\nRegion: ISCA-37405-Loss was added to Syndromic Retinopathy. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37405-Loss.\nMode of inheritance for Region: ISCA-37405-Loss was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for Region: ISCA-37405-Loss were set to 29146700\nPhenotypes for Region: ISCA-37405-Loss were set to Nephronophthisis 1, juvenile, MIM#\t256100; Joubert syndrome 4, MIM#\t609583; Senior-Loken syndrome 1, MIM#\t266900","entity_name":"ISCA-37405-Loss","entity_type":"region"},{"created":"2025-12-16T12:57:02.868215+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.46","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37405-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2025-12-16T12:57:02.588601+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.46","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37405-Loss was added\nRegion: ISCA-37405-Loss was added to Renal Ciliopathies and Nephronophthisis. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37405-Loss.\nMode of inheritance for Region: ISCA-37405-Loss was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for Region: ISCA-37405-Loss were set to 29146700\nPhenotypes for Region: ISCA-37405-Loss were set to Nephronophthisis 1, juvenile, MIM#\t256100; Joubert syndrome 4, MIM#\t609583; Senior-Loken syndrome 1, MIM#\t266900","entity_name":"ISCA-37405-Loss","entity_type":"region"},{"created":"2025-12-16T12:56:21.569604+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"1.33","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37405-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2025-12-16T12:56:21.427864+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"1.33","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37405-Loss was added\nRegion: ISCA-37405-Loss was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37405-Loss.\nMode of inheritance for Region: ISCA-37405-Loss was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for Region: ISCA-37405-Loss were set to 29146700\nPhenotypes for Region: ISCA-37405-Loss were set to Nephronophthisis 1, juvenile, MIM#\t256100; Joubert syndrome 4, MIM#\t609583; Senior-Loken syndrome 1, MIM#\t266900","entity_name":"ISCA-37405-Loss","entity_type":"region"},{"created":"2025-12-16T12:55:56.273480+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.87","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37406-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2025-12-16T12:55:56.146014+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.87","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37406-Loss was added\nRegion: ISCA-37406-Loss was added to Growth failure. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37406-Loss.\nMode of inheritance for Region: ISCA-37406-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37406-Loss were set to 20101707; 17473832; 16783566\nPhenotypes for Region: ISCA-37406-Loss were set to Chromosome 16p13.3 deletion syndrome, Rubinstein-Taybi deletion syndrome","entity_name":"ISCA-37406-Loss","entity_type":"region"},{"created":"2025-12-16T12:55:34.600546+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.499","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37405-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2025-12-16T12:55:34.238602+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.499","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37405-Loss was added\nRegion: ISCA-37405-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37405-Loss.\nMode of inheritance for Region: ISCA-37405-Loss was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for Region: ISCA-37405-Loss were set to 29146700\nPhenotypes for Region: ISCA-37405-Loss were set to Nephronophthisis 1, juvenile, MIM#\t256100; Joubert syndrome 4, MIM#\t609583; Senior-Loken syndrome 1, MIM#\t266900","entity_name":"ISCA-37405-Loss","entity_type":"region"},{"created":"2025-12-16T12:54:49.404607+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.482","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37405-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2025-12-16T12:54:49.194114+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.482","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37405-Loss was added\nRegion: ISCA-37405-Loss was added to Fetal anomalies. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37405-Loss.\nMode of inheritance for Region: ISCA-37405-Loss was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for Region: ISCA-37405-Loss were set to 29146700\nPhenotypes for Region: ISCA-37405-Loss were set to Nephronophthisis 1, juvenile, MIM#\t256100; Joubert syndrome 4, MIM#\t609583; Senior-Loken syndrome 1, MIM#\t266900","entity_name":"ISCA-37405-Loss","entity_type":"region"},{"created":"2025-12-16T12:54:45.953994+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.96","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37405-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2025-12-16T12:54:45.810762+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.96","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37405-Loss was added\nRegion: ISCA-37405-Loss was added to Ciliopathies. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37405-Loss.\nMode of inheritance for Region: ISCA-37405-Loss was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for Region: ISCA-37405-Loss were set to 29146700\nPhenotypes for Region: ISCA-37405-Loss were set to Nephronophthisis 1, juvenile, MIM#\t256100; Joubert syndrome 4, MIM#\t609583; Senior-Loken syndrome 1, MIM#\t266900","entity_name":"ISCA-37405-Loss","entity_type":"region"},{"created":"2025-12-16T12:54:09.275520+11:00","panel_name":"Ataxia","panel_id":271,"panel_version":"1.160","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37405-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2025-12-16T12:54:09.096951+11:00","panel_name":"Ataxia","panel_id":271,"panel_version":"1.160","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37405-Loss was added\nRegion: ISCA-37405-Loss was added to Ataxia. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37405-Loss.\nMode of inheritance for Region: ISCA-37405-Loss was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for Region: ISCA-37405-Loss were set to 29146700\nPhenotypes for Region: ISCA-37405-Loss were set to Nephronophthisis 1, juvenile, MIM#\t256100; Joubert syndrome 4, MIM#\t609583; Senior-Loken syndrome 1, MIM#\t266900","entity_name":"ISCA-37405-Loss","entity_type":"region"},{"created":"2025-12-16T12:53:48.625681+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"1.23","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37404-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2025-12-16T12:53:48.583482+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"1.23","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37404-Loss was added\nRegion: ISCA-37404-Loss was added to Severe early-onset obesity. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37404-Loss.\nMode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37404-Loss were set to 20301323; 20301505\nPhenotypes for Region: ISCA-37404-Loss were set to Angelman syndrome, MIM#\t105830; Prader-Willi syndrome, MIM#\t176270","entity_name":"ISCA-37404-Loss","entity_type":"region"},{"created":"2025-12-16T12:53:48.359874+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.498","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37404-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2025-12-16T12:53:48.021411+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.498","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37404-Loss was added\nRegion: ISCA-37404-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37404-Loss.\nMode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37404-Loss were set to 20301323; 20301505\nPhenotypes for Region: ISCA-37404-Loss were set to Angelman syndrome, MIM#\t105830; Prader-Willi syndrome, MIM#\t176270","entity_name":"ISCA-37404-Loss","entity_type":"region"},{"created":"2025-12-16T12:53:07.246894+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.308","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37404-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2025-12-16T12:53:06.982767+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.308","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37404-Loss was added\nRegion: ISCA-37404-Loss was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37404-Loss.\nMode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37404-Loss were set to 20301323; 20301505\nPhenotypes for Region: ISCA-37404-Loss were set to Angelman syndrome, MIM#\t105830; Prader-Willi syndrome, MIM#\t176270","entity_name":"ISCA-37404-Loss","entity_type":"region"},{"created":"2025-12-16T12:52:15.211764+11:00","panel_name":"Ataxia","panel_id":271,"panel_version":"1.159","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37404-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2025-12-16T12:52:14.965242+11:00","panel_name":"Ataxia","panel_id":271,"panel_version":"1.159","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37404-Loss was added\nRegion: ISCA-37404-Loss was added to Ataxia. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37404-Loss.\nMode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37404-Loss were set to 20301323; 20301505\nPhenotypes for Region: ISCA-37404-Loss were set to Angelman syndrome, MIM#\t105830; Prader-Willi syndrome, MIM#\t176270","entity_name":"ISCA-37404-Loss","entity_type":"region"},{"created":"2025-12-16T11:33:11.922149+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.147","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HPS1 as ready","entity_name":"HPS1","entity_type":"gene"},{"created":"2025-12-16T11:33:11.914307+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.147","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hps1 has been classified as Green List (High Evidence).","entity_name":"HPS1","entity_type":"gene"},{"created":"2025-12-16T11:33:07.287246+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.147","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HPS1 were changed from  to Hermansky-Pudlak syndrome 1, MIM# 203300; MONDO:0008748","entity_name":"HPS1","entity_type":"gene"},{"created":"2025-12-16T11:32:30.783786+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HPS1 were set to ","entity_name":"HPS1","entity_type":"gene"},{"created":"2025-12-16T11:32:03.018488+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HPS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HPS1","entity_type":"gene"},{"created":"2025-12-16T11:30:43.397372+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GBA as ready","entity_name":"GBA","entity_type":"gene"},{"created":"2025-12-16T11:30:43.386435+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gba has been classified as Green List (High Evidence).","entity_name":"GBA","entity_type":"gene"},{"created":"2025-12-16T11:30:07.034797+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GBA were changed from  to Gaucher disease, type I, MIM# 230800","entity_name":"GBA","entity_type":"gene"},{"created":"2025-12-16T11:29:39.181180+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.143","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GBA","entity_type":"gene"},{"created":"2025-12-16T11:29:09.664913+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Gaucher disease, type I, MIM# 230800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GBA","entity_type":"gene"},{"created":"2025-12-16T11:27:43.578768+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FAM111B as ready","entity_name":"FAM111B","entity_type":"gene"},{"created":"2025-12-16T11:27:43.568716+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fam111b has been classified as Green List (High Evidence).","entity_name":"FAM111B","entity_type":"gene"},{"created":"2025-12-16T11:27:41.398650+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FAM111B were changed from  to hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310","entity_name":"FAM111B","entity_type":"gene"},{"created":"2025-12-16T11:27:12.420249+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.141","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FAM111B were set to ","entity_name":"FAM111B","entity_type":"gene"},{"created":"2025-12-16T11:26:45.384776+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FAM111B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FAM111B","entity_type":"gene"},{"created":"2025-12-16T11:26:03.011595+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.139","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DKC1 as ready","entity_name":"DKC1","entity_type":"gene"},{"created":"2025-12-16T11:26:03.000929+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.139","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dkc1 has been classified as Green List (High Evidence).","entity_name":"DKC1","entity_type":"gene"},{"created":"2025-12-16T11:25:59.778609+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.139","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DKC1 were changed from  to Dyskeratosis congenita, X-linked 305000; Hoyeraal-Hreidarsson Syndrome","entity_name":"DKC1","entity_type":"gene"},{"created":"2025-12-16T11:25:27.836763+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DKC1 were set to ","entity_name":"DKC1","entity_type":"gene"},{"created":"2025-12-16T11:25:01.307493+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.137","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DKC1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"DKC1","entity_type":"gene"},{"created":"2025-12-16T11:24:23.976026+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.136","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CSF2RB as ready","entity_name":"CSF2RB","entity_type":"gene"},{"created":"2025-12-16T11:24:23.967845+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.136","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: csf2rb has been classified as Green List (High Evidence).","entity_name":"CSF2RB","entity_type":"gene"},{"created":"2025-12-16T11:24:21.336309+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.136","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CSF2RB were changed from  to Surfactant metabolism dysfunction, pulmonary, 5, MIM#614370","entity_name":"CSF2RB","entity_type":"gene"},{"created":"2025-12-16T11:23:56.066585+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.135","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CSF2RB were set to ","entity_name":"CSF2RB","entity_type":"gene"},{"created":"2025-12-16T11:23:28.636274+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.134","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CSF2RB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CSF2RB","entity_type":"gene"},{"created":"2025-12-16T11:22:43.126654+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CSF2RA as ready","entity_name":"CSF2RA","entity_type":"gene"},{"created":"2025-12-16T11:22:43.113632+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: csf2ra has been classified as Green List (High Evidence).","entity_name":"CSF2RA","entity_type":"gene"},{"created":"2025-12-16T11:22:40.412810+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CSF2RA were changed from  to Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770","entity_name":"CSF2RA","entity_type":"gene"},{"created":"2025-12-16T11:22:11.050474+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.132","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CSF2RA were set to ","entity_name":"CSF2RA","entity_type":"gene"},{"created":"2025-12-16T11:21:39.129590+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CSF2RA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CSF2RA","entity_type":"gene"},{"created":"2025-12-16T11:20:52.178982+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ASAH1 were changed from Spinal muscular atrophy with progressive myoclonic epilepsy, MIM# 159950; Farber lipogranulomatosis, MIM# 228000 to Spinal muscular atrophy with progressive myoclonic epilepsy, MIM# 159950; Farber lipogranulomatosis, MIM# 228000","entity_name":"ASAH1","entity_type":"gene"},{"created":"2025-12-16T11:20:35.102584+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ASAH1 as ready","entity_name":"ASAH1","entity_type":"gene"},{"created":"2025-12-16T11:20:35.090311+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: asah1 has been classified as Red List (Low Evidence).","entity_name":"ASAH1","entity_type":"gene"},{"created":"2025-12-16T11:20:29.334773+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ASAH1 were changed from  to Spinal muscular atrophy with progressive myoclonic epilepsy, MIM# 159950; Farber lipogranulomatosis, MIM# 228000","entity_name":"ASAH1","entity_type":"gene"},{"created":"2025-12-16T11:20:02.344464+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.128","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ASAH1 were set to ","entity_name":"ASAH1","entity_type":"gene"},{"created":"2025-12-16T11:19:00.750238+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.127","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ASAH1 as Red List (low evidence)","entity_name":"ASAH1","entity_type":"gene"},{"created":"2025-12-16T11:19:00.736480+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.127","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: asah1 has been classified as Red List (Low Evidence).","entity_name":"ASAH1","entity_type":"gene"},{"created":"2025-12-16T11:18:18.086704+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ASAH1: Added comment: Respiratory insufficiency due to muscle weakness in Spinal muscular atrophy with progressive myoclonic epilepsy, MIM# 159950, does not fit with panel scope.; Changed rating: RED","entity_name":"ASAH1","entity_type":"gene"},{"created":"2025-12-16T11:13:41.757822+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AP3B1 as ready","entity_name":"AP3B1","entity_type":"gene"},{"created":"2025-12-16T11:13:41.747615+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap3b1 has been classified as Green List (High Evidence).","entity_name":"AP3B1","entity_type":"gene"},{"created":"2025-12-16T11:05:10.918060+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AP3B1 were changed from  to Hermansky-Pudlak syndrome 2, MIM# 608233; MONDO:0011997","entity_name":"AP3B1","entity_type":"gene"},{"created":"2025-12-16T11:04:40.641533+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.125","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AP3B1 were set to 10024875; 11809908; 14566336","entity_name":"AP3B1","entity_type":"gene"},{"created":"2025-12-16T11:04:15.142015+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AP3B1 were set to ","entity_name":"AP3B1","entity_type":"gene"},{"created":"2025-12-16T11:03:25.482471+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AP3B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"AP3B1","entity_type":"gene"},{"created":"2025-12-16T10:57:42.413008+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.370","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TNNI3 were set to 22464770; 31568572; 19590045; 20215591; 21846512; 2226790; 30681346; 15607392","entity_name":"TNNI3","entity_type":"gene"},{"created":"2025-12-16T10:57:05.811266+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.369","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TNNI3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TNNI3","entity_type":"gene"},{"created":"2025-12-16T10:56:37.123092+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.368","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TNNI3: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TNNI3","entity_type":"gene"},{"created":"2025-12-16T10:53:42.692497+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.368","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: PMID 35838873 describes 7 individuals from 5 families with biallelic loss‑of‑function variants (c.150G>A splice and c.204del truncating) causing severe neonatal cardiomyopathy requiring early transplantation.; to: PMID 35838873 describes 7 individuals from 5 families with biallelic loss‑of‑function variants causing severe neonatal cardiomyopathy requiring early transplantation. The homozygous p.Arg69Alafs*8 was observed in four of the families, raising concern about founder effect.","entity_name":"TNNI3","entity_type":"gene"},{"created":"2025-12-16T10:49:52.685359+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.368","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: DEFINITIVE by ClinGen for HCM (mono-allelic) and STRONG for DCM.; to: DEFINITIVE by ClinGen for HCM (mono-allelic, dominant negative) and STRONG for DCM.","entity_name":"TNNI3","entity_type":"gene"},{"created":"2025-12-16T10:49:11.138264+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.368","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: TNNI3: DEFINITIVE by ClinGen for HCM (mono-allelic) and STRONG for DCM.","entity_name":"TNNI3","entity_type":"gene"},{"created":"2025-12-16T10:48:02.111524+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.368","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TNNI3: Added comment: PMID 35838873 describes 7 individuals from 5 families with biallelic loss‑of‑function variants (c.150G>A splice and c.204del truncating) causing severe neonatal cardiomyopathy requiring early transplantation.; Changed publications: 22464770, 31568572, 19590045, 20215591, 21846512, 2226790, 30681346, 35838873","entity_name":"TNNI3","entity_type":"gene"},{"created":"2025-12-16T08:37:13.734419+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.50","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: HRAS as ready","entity_name":"HRAS","entity_type":"gene"},{"created":"2025-12-16T08:37:13.726912+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.50","user_name":"Chirag Patel","item_type":"entity","text":"Gene: hras has been classified as Green List (High Evidence).","entity_name":"HRAS","entity_type":"gene"},{"created":"2025-12-16T08:36:51.430738+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.50","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: NF1 as ready","entity_name":"NF1","entity_type":"gene"},{"created":"2025-12-16T08:36:51.420109+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.50","user_name":"Chirag Patel","item_type":"entity","text":"Gene: nf1 has been classified as Green List (High Evidence).","entity_name":"NF1","entity_type":"gene"},{"created":"2025-12-16T08:36:34.218812+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.50","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene NF1 from panel Interstitial Lung Disease","entity_name":null,"entity_type":null}]}