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{
"count": 220497,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=87",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&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
}
]
}