{"count":220497,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=87","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=85","results":[{"created":"2025-12-16T16:20:12.593874+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.130","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NHP2: Added comment: LIMITED by ClinGen Interstitial Lung Disease panel but note two further reports in 2025.; Changed publications: 18523010, 31985013, 40352450, 40073202","entity_name":"NHP2","entity_type":"gene"},{"created":"2025-12-16T16:15:28.946518+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.175","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NHP2 as ready","entity_name":"NHP2","entity_type":"gene"},{"created":"2025-12-16T16:15:28.935187+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.175","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nhp2 has been classified as Red List (Low Evidence).","entity_name":"NHP2","entity_type":"gene"},{"created":"2025-12-16T16:14:52.685134+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.175","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TERT as ready","entity_name":"TERT","entity_type":"gene"},{"created":"2025-12-16T16:14:52.675076+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.175","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tert has been classified as Green List (High Evidence).","entity_name":"TERT","entity_type":"gene"},{"created":"2025-12-16T16:14:45.401311+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.175","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TERT were changed from  to Dyskeratosis congenita, MIM# 613989; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, MIM# 614742","entity_name":"TERT","entity_type":"gene"},{"created":"2025-12-16T16:14:17.431127+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.174","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TERT were set to ","entity_name":"TERT","entity_type":"gene"},{"created":"2025-12-16T16:13:47.201285+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TERT was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TERT","entity_type":"gene"},{"created":"2025-12-16T16:12:48.943171+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.172","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMPD1 as ready","entity_name":"SMPD1","entity_type":"gene"},{"created":"2025-12-16T16:12:48.933136+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.172","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smpd1 has been classified as Green List (High Evidence).","entity_name":"SMPD1","entity_type":"gene"},{"created":"2025-12-16T16:12:44.585877+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.172","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SMPD1 were changed from  to Niemann-Pick disease, type A, MIM# 257200; MONDO:0009756; Niemann-Pick disease, type B, MIM# 607616; MONDO:0011871","entity_name":"SMPD1","entity_type":"gene"},{"created":"2025-12-16T16:12:16.662053+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SMPD1 were set to ","entity_name":"SMPD1","entity_type":"gene"},{"created":"2025-12-16T16:11:45.957585+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.170","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SMPD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SMPD1","entity_type":"gene"},{"created":"2025-12-16T16:10:48.227283+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.169","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC7A7 as ready","entity_name":"SLC7A7","entity_type":"gene"},{"created":"2025-12-16T16:10:48.216704+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.169","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc7a7 has been classified as Green List (High Evidence).","entity_name":"SLC7A7","entity_type":"gene"},{"created":"2025-12-16T16:10:46.272852+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.169","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC7A7 were changed from  to Lysinuric protein intolerance, MIM# 222700","entity_name":"SLC7A7","entity_type":"gene"},{"created":"2025-12-16T16:10:14.936300+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.168","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC7A7 were set to ","entity_name":"SLC7A7","entity_type":"gene"},{"created":"2025-12-16T16:09:43.985102+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.167","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC7A7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC7A7","entity_type":"gene"},{"created":"2025-12-16T16:08:53.593343+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC34A2 as ready","entity_name":"SLC34A2","entity_type":"gene"},{"created":"2025-12-16T16:08:53.583096+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc34a2 has been classified as Green List (High Evidence).","entity_name":"SLC34A2","entity_type":"gene"},{"created":"2025-12-16T16:08:51.019820+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC34A2 were changed from  to Pulmonary alveolar microlithiasis, MIM# 265100","entity_name":"SLC34A2","entity_type":"gene"},{"created":"2025-12-16T16:07:50.207865+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.165","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC34A2 were set to ","entity_name":"SLC34A2","entity_type":"gene"},{"created":"2025-12-16T16:04:37.139353+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.164","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC34A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC34A2","entity_type":"gene"},{"created":"2025-12-16T16:03:52.292630+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.163","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SFTPC as ready","entity_name":"SFTPC","entity_type":"gene"},{"created":"2025-12-16T16:03:52.283018+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.163","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sftpc has been classified as Green List (High Evidence).","entity_name":"SFTPC","entity_type":"gene"},{"created":"2025-12-16T16:03:50.233011+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.163","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SFTPC were changed from  to Surfactant metabolism dysfunction, pulmonary, 2, MIM# 610913","entity_name":"SFTPC","entity_type":"gene"},{"created":"2025-12-16T16:03:05.206528+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.162","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SFTPC were set to ","entity_name":"SFTPC","entity_type":"gene"},{"created":"2025-12-16T16:02:35.984507+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.161","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SFTPC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SFTPC","entity_type":"gene"},{"created":"2025-12-16T16:01:55.752444+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.160","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SFTPB as ready","entity_name":"SFTPB","entity_type":"gene"},{"created":"2025-12-16T16:01:55.742734+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.160","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sftpb has been classified as Green List (High Evidence).","entity_name":"SFTPB","entity_type":"gene"},{"created":"2025-12-16T16:00:43.989883+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.160","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SFTPB were changed from  to Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120","entity_name":"SFTPB","entity_type":"gene"},{"created":"2025-12-16T15:59:58.961821+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.159","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SFTPB were set to ","entity_name":"SFTPB","entity_type":"gene"},{"created":"2025-12-16T15:59:13.155237+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.158","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SFTPB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SFTPB","entity_type":"gene"},{"created":"2025-12-16T15:58:20.425037+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.157","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SFTPA2 as ready","entity_name":"SFTPA2","entity_type":"gene"},{"created":"2025-12-16T15:58:20.403095+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.157","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sftpa2 has been classified as Green List (High Evidence).","entity_name":"SFTPA2","entity_type":"gene"},{"created":"2025-12-16T15:57:31.302217+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.157","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SFTPA2 were changed from  to Pulmonary fibrosis, idiopathic, MIM# 178500","entity_name":"SFTPA2","entity_type":"gene"},{"created":"2025-12-16T15:56:59.224424+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.156","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SFTPA2 were set to ","entity_name":"SFTPA2","entity_type":"gene"},{"created":"2025-12-16T15:56:32.086754+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.155","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SFTPA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SFTPA2","entity_type":"gene"},{"created":"2025-12-16T15:55:50.787598+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.154","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PARN as ready","entity_name":"PARN","entity_type":"gene"},{"created":"2025-12-16T15:55:50.778004+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.154","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: parn has been classified as Green List (High Evidence).","entity_name":"PARN","entity_type":"gene"},{"created":"2025-12-16T15:55:47.073558+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.154","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PARN were changed from  to Dyskeratosis congenita, autosomal recessive 6, MIM# 616353; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, MIM# 616371","entity_name":"PARN","entity_type":"gene"},{"created":"2025-12-16T15:55:05.532031+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.153","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PARN were set to ","entity_name":"PARN","entity_type":"gene"},{"created":"2025-12-16T15:54:33.713865+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.152","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PARN was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PARN","entity_type":"gene"},{"created":"2025-12-16T15:54:07.647478+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.151","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PARN was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PARN","entity_type":"gene"},{"created":"2025-12-16T15:53:01.688952+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.150","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HPS4 as ready","entity_name":"HPS4","entity_type":"gene"},{"created":"2025-12-16T15:53:01.664768+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.150","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hps4 has been classified as Green List (High Evidence).","entity_name":"HPS4","entity_type":"gene"},{"created":"2025-12-16T15:52:55.395186+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.150","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HPS4 were changed from  to Hermansky-Pudlak syndrome 4, MIM# 614073; MONDO:0013556","entity_name":"HPS4","entity_type":"gene"},{"created":"2025-12-16T15:51:33.885061+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HPS4 were set to ","entity_name":"HPS4","entity_type":"gene"},{"created":"2025-12-16T15:51:08.401422+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.148","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HPS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HPS4","entity_type":"gene"},{"created":"2025-12-16T15:50:36.982188+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.147","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes. Well established gene-disease association.; to: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes. Well established gene-disease association.\r\n\r\nRestrictive lung disease and pulmonary fibrosis are a feature.","entity_name":"HPS4","entity_type":"gene"},{"created":"2025-12-16T14:47:06.456659+11:00","panel_name":"Ataxia","panel_id":271,"panel_version":"1.160","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37404-Loss as ready","entity_name":"ISCA-37404-Loss","entity_type":"region"},{"created":"2025-12-16T14:47:06.431264+11:00","panel_name":"Ataxia","panel_id":271,"panel_version":"1.160","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37404-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37404-Loss","entity_type":"region"},{"created":"2025-12-16T14:46:41.281366+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.507","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37404-Loss as ready","entity_name":"ISCA-37404-Loss","entity_type":"region"},{"created":"2025-12-16T14:46:41.271142+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.507","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37404-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37404-Loss","entity_type":"region"},{"created":"2025-12-16T14:46:24.408050+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"1.23","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37404-Loss as ready","entity_name":"ISCA-37404-Loss","entity_type":"region"},{"created":"2025-12-16T14:46:24.398676+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"1.23","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37404-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37404-Loss","entity_type":"region"},{"created":"2025-12-16T14:46:08.509086+11:00","panel_name":"Ataxia","panel_id":271,"panel_version":"1.160","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37405-Loss as ready","entity_name":"ISCA-37405-Loss","entity_type":"region"},{"created":"2025-12-16T14:46:08.497098+11:00","panel_name":"Ataxia","panel_id":271,"panel_version":"1.160","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37405-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37405-Loss","entity_type":"region"},{"created":"2025-12-16T14:45:54.098704+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.96","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37405-Loss as ready","entity_name":"ISCA-37405-Loss","entity_type":"region"},{"created":"2025-12-16T14:45:54.092062+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.96","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37405-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37405-Loss","entity_type":"region"},{"created":"2025-12-16T14:45:34.265364+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.482","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37405-Loss as ready","entity_name":"ISCA-37405-Loss","entity_type":"region"},{"created":"2025-12-16T14:45:34.255831+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.482","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37405-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37405-Loss","entity_type":"region"},{"created":"2025-12-16T14:44:41.870167+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.87","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37406-Loss as ready","entity_name":"ISCA-37406-Loss","entity_type":"region"},{"created":"2025-12-16T14:44:41.860837+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.87","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37406-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37406-Loss","entity_type":"region"},{"created":"2025-12-16T14:42:52.140823+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"1.33","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37405-Loss as ready","entity_name":"ISCA-37405-Loss","entity_type":"region"},{"created":"2025-12-16T14:42:52.132761+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"1.33","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37405-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37405-Loss","entity_type":"region"},{"created":"2025-12-16T14:42:35.494210+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.46","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37405-Loss as ready","entity_name":"ISCA-37405-Loss","entity_type":"region"},{"created":"2025-12-16T14:42:35.484779+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.46","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37405-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37405-Loss","entity_type":"region"},{"created":"2025-12-16T14:42:11.304377+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.235","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37405-Loss as ready","entity_name":"ISCA-37405-Loss","entity_type":"region"},{"created":"2025-12-16T14:42:11.297804+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.235","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37405-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37405-Loss","entity_type":"region"},{"created":"2025-12-16T14:41:45.991886+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.507","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37406-Loss as ready","entity_name":"ISCA-37406-Loss","entity_type":"region"},{"created":"2025-12-16T14:41:45.984628+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.507","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37406-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37406-Loss","entity_type":"region"},{"created":"2025-12-16T14:41:27.949687+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.376","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37406-Loss as ready","entity_name":"ISCA-37406-Loss","entity_type":"region"},{"created":"2025-12-16T14:41:27.938088+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.376","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37406-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37406-Loss","entity_type":"region"},{"created":"2025-12-16T14:41:02.506397+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.309","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37411-Loss as ready","entity_name":"ISCA-37411-Loss","entity_type":"region"},{"created":"2025-12-16T14:41:02.497069+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.309","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37411-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37411-Loss","entity_type":"region"},{"created":"2025-12-16T14:40:37.689304+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.507","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37411-Loss as ready","entity_name":"ISCA-37411-Loss","entity_type":"region"},{"created":"2025-12-16T14:40:37.680236+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.507","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37411-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37411-Loss","entity_type":"region"},{"created":"2025-12-16T14:40:17.627531+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.507","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37415-Gain as ready","entity_name":"ISCA-37415-Gain","entity_type":"region"},{"created":"2025-12-16T14:40:17.620537+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.507","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37415-gain has been classified as Green List (High Evidence).","entity_name":"ISCA-37415-Gain","entity_type":"region"},{"created":"2025-12-16T14:40:01.376926+11:00","panel_name":"Ichthyosis and Porokeratosis","panel_id":124,"panel_version":"1.23","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37417-Loss as ready","entity_name":"ISCA-37417-Loss","entity_type":"region"},{"created":"2025-12-16T14:40:01.370673+11:00","panel_name":"Ichthyosis and Porokeratosis","panel_id":124,"panel_version":"1.23","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37417-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37417-Loss","entity_type":"region"},{"created":"2025-12-16T14:39:42.048299+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.507","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37418-Gain as ready","entity_name":"ISCA-37418-Gain","entity_type":"region"},{"created":"2025-12-16T14:39:42.039183+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.507","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37418-gain has been classified as Green List (High Evidence).","entity_name":"ISCA-37418-Gain","entity_type":"region"},{"created":"2025-12-16T14:39:38.109014+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.507","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for Region: ISCA-37418-Gain were changed from Potocki-Lupski syndrome, MIM#\t610883; intellectual disability; hypotonia; congenital anomalies to Potocki-Lupski syndrome, MIM#\t610883","entity_name":"ISCA-37418-Gain","entity_type":"region"},{"created":"2025-12-16T14:38:49.817590+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.365","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37418-Loss as ready","entity_name":"ISCA-37418-Loss","entity_type":"region"},{"created":"2025-12-16T14:38:49.808479+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.365","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37418-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37418-Loss","entity_type":"region"},{"created":"2025-12-16T14:38:46.040480+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.365","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for Region: ISCA-37418-Loss were changed from 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 to Smith-Magenis syndrome, MIM#182290","entity_name":"ISCA-37418-Loss","entity_type":"region"},{"created":"2025-12-16T14:38:02.218153+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37418-Loss as ready","entity_name":"ISCA-37418-Loss","entity_type":"region"},{"created":"2025-12-16T14:38:02.208841+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37418-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37418-Loss","entity_type":"region"},{"created":"2025-12-16T14:37:58.478928+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for Region: ISCA-37418-Loss were changed from 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 to Smith-Magenis syndrome, MIM#182290","entity_name":"ISCA-37418-Loss","entity_type":"region"},{"created":"2025-12-16T14:35:33.944149+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.506","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37418-Loss as ready","entity_name":"ISCA-37418-Loss","entity_type":"region"},{"created":"2025-12-16T14:35:33.937589+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.506","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37418-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37418-Loss","entity_type":"region"},{"created":"2025-12-16T14:34:55.507504+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.506","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for Region: ISCA-37418-Loss were changed from 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 to Smith-Magenis syndrome, MIM#182290","entity_name":"ISCA-37418-Loss","entity_type":"region"},{"created":"2025-12-16T14:34:19.916540+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.505","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for Region: ISCA-37418-Loss were set to ","entity_name":"ISCA-37418-Loss","entity_type":"region"},{"created":"2025-12-16T14:33:31.014352+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.504","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37421-Gain as ready","entity_name":"ISCA-37421-Gain","entity_type":"region"},{"created":"2025-12-16T14:33:31.005082+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.504","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37421-gain has been classified as Green List (High Evidence).","entity_name":"ISCA-37421-Gain","entity_type":"region"},{"created":"2025-12-16T13:21:29.951967+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.504","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37421-Gain from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2025-12-16T13:21:29.614475+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.504","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37421-Gain was added\nRegion: ISCA-37421-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37421-Gain.\nMode of inheritance for Region: ISCA-37421-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37421-Gain were set to 32655619\nPhenotypes for Region: ISCA-37421-Gain were set to Chromosome 1q21.1 duplication syndrome, MIM#\t612475; intellectual disability; autism; macrocephaly","entity_name":"ISCA-37421-Gain","entity_type":"region"},{"created":"2025-12-16T13:17:55.115208+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.503","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37418-Loss from panel Skeletal dysplasia","entity_name":null,"entity_type":null}]}