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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=670",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=668",
"results": [
{
"created": "2022-12-12T16:00:53.600156+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1331",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc35d1 has been classified as Red List (Low Evidence).",
"entity_name": "SLC35D1",
"entity_type": "gene"
},
{
"created": "2022-12-12T16:00:46.363387+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1331",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SLC35D1 were changed from Schneckenbecken dysplasia to Schneckenbecken dysplasia 269250, MONDO:0010013",
"entity_name": "SLC35D1",
"entity_type": "gene"
},
{
"created": "2022-12-12T16:00:37.797412+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1330",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SLC35D1 as Red List (low evidence)",
"entity_name": "SLC35D1",
"entity_type": "gene"
},
{
"created": "2022-12-12T16:00:37.781634+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1330",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc35d1 has been classified as Red List (Low Evidence).",
"entity_name": "SLC35D1",
"entity_type": "gene"
},
{
"created": "2022-12-12T16:00:24.389996+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1329",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SLC35D1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Schneckenbecken dysplasia 269250, MONDO:0010013; Mode of inheritance: None",
"entity_name": "SLC35D1",
"entity_type": "gene"
},
{
"created": "2022-12-12T15:58:19.537026+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1329",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SLC34A2 as ready",
"entity_name": "SLC34A2",
"entity_type": "gene"
},
{
"created": "2022-12-12T15:58:19.504831+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1329",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc34a2 has been classified as Red List (Low Evidence).",
"entity_name": "SLC34A2",
"entity_type": "gene"
},
{
"created": "2022-12-12T15:58:14.136878+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1329",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SLC34A2 were changed from Pulmonary alveolar microlithiasis to Pulmonary alveolar microlithiasis, MIM# 265100",
"entity_name": "SLC34A2",
"entity_type": "gene"
},
{
"created": "2022-12-12T15:58:03.031196+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1328",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SLC34A2 as Red List (low evidence)",
"entity_name": "SLC34A2",
"entity_type": "gene"
},
{
"created": "2022-12-12T15:58:03.011924+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1328",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc34a2 has been classified as Red List (Low Evidence).",
"entity_name": "SLC34A2",
"entity_type": "gene"
},
{
"created": "2022-12-12T15:57:49.775829+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1327",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SLC34A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary alveolar microlithiasis, MIM# 265100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC34A2",
"entity_type": "gene"
},
{
"created": "2022-12-12T15:43:34.840183+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1327",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SLC2A10 as ready",
"entity_name": "SLC2A10",
"entity_type": "gene"
},
{
"created": "2022-12-12T15:43:34.825315+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1327",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc2a10 has been classified as Red List (Low Evidence).",
"entity_name": "SLC2A10",
"entity_type": "gene"
},
{
"created": "2022-12-12T15:43:28.804778+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1327",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SLC2A10 were changed from Arterial tortuosity syndrome to Arterial tortuosity syndrome MIM#208050",
"entity_name": "SLC2A10",
"entity_type": "gene"
},
{
"created": "2022-12-12T15:43:14.723066+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1326",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SLC2A10 as Red List (low evidence)",
"entity_name": "SLC2A10",
"entity_type": "gene"
},
{
"created": "2022-12-12T15:43:14.709893+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1326",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc2a10 has been classified as Red List (Low Evidence).",
"entity_name": "SLC2A10",
"entity_type": "gene"
},
{
"created": "2022-12-12T15:42:58.395575+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1325",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SLC2A10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arterial tortuosity syndrome MIM#208050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC2A10",
"entity_type": "gene"
},
{
"created": "2022-12-12T15:36:06.585438+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1325",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SLC2A1 as ready",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2022-12-12T15:36:06.571907+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1325",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc2a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2022-12-12T15:35:52.547991+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1325",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Review if bi-allelic form is indeed relevant for NBS",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2022-12-12T15:35:52.526149+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1325",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC2A1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2022-12-12T15:35:12.441046+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1324",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC2A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2022-12-12T15:34:36.145768+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1323",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: GLUT1 deficiency syndrome 1, infantile onset, severe, MIM#606777, Dystonia 9, MIM#601042, GLUT1 deficiency syndrome 2, childhood onset, MIM#612126; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2022-12-12T15:22:45.521061+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1323",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SLC27A4 as ready",
"entity_name": "SLC27A4",
"entity_type": "gene"
},
{
"created": "2022-12-12T15:22:45.508956+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1323",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc27a4 has been classified as Red List (Low Evidence).",
"entity_name": "SLC27A4",
"entity_type": "gene"
},
{
"created": "2022-12-12T15:22:27.848409+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1323",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SLC27A4 were changed from Ichthyosis prematurity syndrome to Ichthyosis prematurity syndrome, MIM#608649",
"entity_name": "SLC27A4",
"entity_type": "gene"
},
{
"created": "2022-12-12T15:21:42.107650+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1322",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: SLC27A4 were set to ",
"entity_name": "SLC27A4",
"entity_type": "gene"
},
{
"created": "2022-12-12T15:21:29.297652+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1321",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SLC27A4 as Red List (low evidence)",
"entity_name": "SLC27A4",
"entity_type": "gene"
},
{
"created": "2022-12-12T15:21:29.286748+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1321",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc27a4 has been classified as Red List (Low Evidence).",
"entity_name": "SLC27A4",
"entity_type": "gene"
},
{
"created": "2022-12-12T15:21:10.618116+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1320",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SLC27A4: Rating: RED; Mode of pathogenicity: None; Publications: 20301593; Phenotypes: Ichthyosis prematurity syndrome, MIM#608649; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC27A4",
"entity_type": "gene"
},
{
"created": "2022-12-12T15:13:41.095036+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1320",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SLC26A4 as ready",
"entity_name": "SLC26A4",
"entity_type": "gene"
},
{
"created": "2022-12-12T15:13:41.082368+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1320",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc26a4 has been classified as Red List (Low Evidence).",
"entity_name": "SLC26A4",
"entity_type": "gene"
},
{
"created": "2022-12-12T15:13:36.731058+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1320",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SLC26A4 were changed from Pendred syndrome to Pendred syndrome, MIM #274600",
"entity_name": "SLC26A4",
"entity_type": "gene"
},
{
"created": "2022-12-12T15:13:20.999544+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1319",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: SLC26A4 were set to ",
"entity_name": "SLC26A4",
"entity_type": "gene"
},
{
"created": "2022-12-12T15:12:52.421907+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1318",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SLC26A4 as Red List (low evidence)",
"entity_name": "SLC26A4",
"entity_type": "gene"
},
{
"created": "2022-12-12T15:12:52.406442+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1318",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc26a4 has been classified as Red List (Low Evidence).",
"entity_name": "SLC26A4",
"entity_type": "gene"
},
{
"created": "2022-12-12T15:12:26.045567+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1317",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Tag for review tag was added to gene: SLC26A4.",
"entity_name": "SLC26A4",
"entity_type": "gene"
},
{
"created": "2022-12-12T15:11:57.678582+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1317",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SLC26A4: Rating: RED; Mode of pathogenicity: None; Publications: 20301640; Phenotypes: Pendred syndrome, MIM#274600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC26A4",
"entity_type": "gene"
},
{
"created": "2022-12-12T15:00:43.908437+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1317",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SLC39A7 as ready",
"entity_name": "SLC39A7",
"entity_type": "gene"
},
{
"created": "2022-12-12T15:00:43.894544+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1317",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc39a7 has been classified as Green List (High Evidence).",
"entity_name": "SLC39A7",
"entity_type": "gene"
},
{
"created": "2022-12-12T15:00:38.319561+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1317",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Tag for review tag was added to gene: SLC39A7.",
"entity_name": "SLC39A7",
"entity_type": "gene"
},
{
"created": "2022-12-12T15:00:31.243932+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1317",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SLC39A7 as Green List (high evidence)",
"entity_name": "SLC39A7",
"entity_type": "gene"
},
{
"created": "2022-12-12T15:00:31.230760+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1317",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc39a7 has been classified as Green List (High Evidence).",
"entity_name": "SLC39A7",
"entity_type": "gene"
},
{
"created": "2022-12-12T15:00:16.431502+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1316",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SLC39A7 was added\ngene: SLC39A7 was added to gNBS. Sources: Literature\nMode of inheritance for gene: SLC39A7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC39A7 were set to 30718914\nPhenotypes for gene: SLC39A7 were set to Agammaglobulinaemia 9, autosomal recessive, MIM# 619693\nAdded comment: Established gene-disease association.\r\n\r\nChildhood onset, primary immunodeficiency\r\n\r\nTreatment: Bone marrow transplant (hematopoietic stem cell transplantation (HSCT)), replacement immunoglobulin treatment\r\n\r\nNon-genetic confirmatory test: immunoglobulin levels, T and B Lymphocyte and Natural Killer Cell Profile \nSources: Literature",
"entity_name": "SLC39A7",
"entity_type": "gene"
},
{
"created": "2022-12-12T14:53:20.004767+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1315",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SLC35C1 as ready",
"entity_name": "SLC35C1",
"entity_type": "gene"
},
{
"created": "2022-12-12T14:53:19.981244+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1315",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc35c1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC35C1",
"entity_type": "gene"
},
{
"created": "2022-12-12T14:53:15.525199+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1315",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SLC35C1 were changed from Congenital disorder of glycosylation 2c to Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953",
"entity_name": "SLC35C1",
"entity_type": "gene"
},
{
"created": "2022-12-12T14:53:07.233200+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1314",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: SLC35C1 were set to ",
"entity_name": "SLC35C1",
"entity_type": "gene"
},
{
"created": "2022-12-12T14:52:57.698434+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1313",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SLC35C1 as Amber List (moderate evidence)",
"entity_name": "SLC35C1",
"entity_type": "gene"
},
{
"created": "2022-12-12T14:52:57.680869+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1313",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc35c1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC35C1",
"entity_type": "gene"
},
{
"created": "2022-12-12T14:52:48.863566+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1312",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Tag for review tag was added to gene: SLC35C1.",
"entity_name": "SLC35C1",
"entity_type": "gene"
},
{
"created": "2022-12-12T14:52:35.807905+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1312",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SLC35C1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29702557; Phenotypes: Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC35C1",
"entity_type": "gene"
},
{
"created": "2022-12-12T14:44:57.174668+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1312",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SLC35A2 as ready",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2022-12-12T14:44:57.158874+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1312",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc35a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2022-12-12T14:44:53.354771+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1312",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SLC35A2 were changed from Early-onset epileptic encephalopathy to Congenital disorder of glycosylation, type IIm, MIM #300896",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2022-12-12T14:44:43.609574+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1311",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: SLC35A2 were set to ",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2022-12-12T14:44:34.845858+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1310",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SLC35A2 as Green List (high evidence)",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2022-12-12T14:44:34.832902+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1310",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc35a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2022-12-12T14:44:25.357472+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1309",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Tag for review tag was added to gene: SLC35A2.",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2022-12-12T14:44:14.469674+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1309",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SLC35A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32103184; Phenotypes: Congenital disorder of glycosylation, type IIm, MIM #300896; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2022-12-12T14:35:40.345141+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1309",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SLC30A10 as ready",
"entity_name": "SLC30A10",
"entity_type": "gene"
},
{
"created": "2022-12-12T14:35:40.332131+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1309",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc30a10 has been classified as Green List (High Evidence).",
"entity_name": "SLC30A10",
"entity_type": "gene"
},
{
"created": "2022-12-12T14:35:31.648760+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1309",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SLC30A10 as Green List (high evidence)",
"entity_name": "SLC30A10",
"entity_type": "gene"
},
{
"created": "2022-12-12T14:35:31.636983+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1309",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc30a10 has been classified as Green List (High Evidence).",
"entity_name": "SLC30A10",
"entity_type": "gene"
},
{
"created": "2022-12-12T14:35:18.772412+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1308",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SLC30A10 was added\ngene: SLC30A10 was added to gNBS. Sources: Literature\nfor review tags were added to gene: SLC30A10.\nMode of inheritance for gene: SLC30A10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC30A10 were set to 31089831\nPhenotypes for gene: SLC30A10 were set to Hypermanganesemia with dystonia 1, MIM# 613280\nReview for gene: SLC30A10 was set to GREEN\nAdded comment: Established gene-disease association.\r\n\r\nChildhood onset, usually in first decade and multiple under 5 (youngest 2). Multi-system disorder\r\n\r\nTreatment: manganese chelation therapy with EDTA-CaNa2 accepted as effective, other treatments under investigation.\r\n\r\nNon-genetic confirmatory test: Mn level \nSources: Literature",
"entity_name": "SLC30A10",
"entity_type": "gene"
},
{
"created": "2022-12-12T14:28:01.261938+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1307",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SLC39A14 as ready",
"entity_name": "SLC39A14",
"entity_type": "gene"
},
{
"created": "2022-12-12T14:28:01.229755+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1307",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc39a14 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC39A14",
"entity_type": "gene"
},
{
"created": "2022-12-12T14:27:46.218693+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1307",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Tag for review tag was added to gene: SLC39A14.",
"entity_name": "SLC39A14",
"entity_type": "gene"
},
{
"created": "2022-12-12T14:27:32.501367+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1307",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SLC39A14 as Amber List (moderate evidence)",
"entity_name": "SLC39A14",
"entity_type": "gene"
},
{
"created": "2022-12-12T14:27:32.484747+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1307",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc39a14 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC39A14",
"entity_type": "gene"
},
{
"created": "2022-12-12T14:27:19.822426+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1306",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SLC39A14 was added\ngene: SLC39A14 was added to gNBS. Sources: Literature\nMode of inheritance for gene: SLC39A14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC39A14 were set to 31089831\nPhenotypes for gene: SLC39A14 were set to Hypermanganesemia with dystonia 2, MIM# 617013\nReview for gene: SLC39A14 was set to AMBER\nAdded comment: Established gene-disease association.\r\n\r\nChildhood onset, multi-system disorder\r\n\r\nTreatment: manganese chelation therapy with EDTA-CaNa2 with strong improvements in one patient, less effective in multiple others. Age of treatment start (earlier = better) and genotype may impact outcome.\r\n\r\nNon-genetic confirmatory test: Mn level \nSources: Literature",
"entity_name": "SLC39A14",
"entity_type": "gene"
},
{
"created": "2022-12-12T14:05:55.299328+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.552",
"user_name": "Suliman Khan",
"item_type": "entity",
"text": "reviewed gene: CLDN5: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 36477332; Phenotypes: seizures, developmental delay, microcephaly, brain calcifications; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-12-12T14:03:32.386698+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.172",
"user_name": "Suliman Khan",
"item_type": "entity",
"text": "gene: CLDN5 was added\ngene: CLDN5 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: CLDN5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CLDN5 were set to PMID: 36477332\nPhenotypes for gene: CLDN5 were set to seizures; developmental delay; microcephaly; brain calcifications\nPenetrance for gene: CLDN5 were set to Complete\nMode of pathogenicity for gene: CLDN5 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: CLDN5 was set to GREEN\nAdded comment: PMID: 36477332 identified de novo heterozygous missense variants in CLDN5 in fifteen unrelated patients who presented with a shared constellation of features including developmental delay, seizures (primarily infantile onset focal epilepsy), microcephaly and a recognizable pattern of pontine atrophy and brain calcifications. \nSources: Literature",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-12-12T14:00:27.746868+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5127",
"user_name": "Suliman Khan",
"item_type": "entity",
"text": "gene: CLDN5 was added\ngene: CLDN5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CLDN5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CLDN5 were set to PMID: 36477332\nPhenotypes for gene: CLDN5 were set to seizures; developmental delay; microcephaly; brain calcifications\nPenetrance for gene: CLDN5 were set to Complete\nMode of pathogenicity for gene: CLDN5 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: CLDN5 was set to GREEN\nAdded comment: PMID: 36477332 identified de novo heterozygous missense variants in CLDN5 in fifteen unrelated patients who presented with a shared constellation of features including developmental delay, seizures (primarily infantile onset focal epilepsy), microcephaly and a recognizable pattern of pontine atrophy and brain calcifications. \nSources: Literature",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-12-12T13:58:56.043534+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1817",
"user_name": "Suliman Khan",
"item_type": "entity",
"text": "gene: CLDN5 was added\ngene: CLDN5 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: CLDN5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CLDN5 were set to PMID: 36477332\nPhenotypes for gene: CLDN5 were set to seizures; developmental delay; microcephaly; brain calcifications\nPenetrance for gene: CLDN5 were set to Complete\nMode of pathogenicity for gene: CLDN5 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: CLDN5 was set to GREEN\nAdded comment: PMID: 36477332 identified de novo heterozygous missense variants in CLDN5 in fifteen unrelated patients who presented with a shared constellation of features including developmental delay, seizures (primarily infantile onset focal epilepsy), microcephaly and a recognizable pattern of pontine atrophy and brain calcifications. \nSources: Literature",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-12-12T13:54:54.909058+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.18",
"user_name": "Suliman Khan",
"item_type": "entity",
"text": "reviewed gene: CLDN5: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 36477332; Phenotypes: seizures, developmental delay, microcephaly, brain calcifications; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-12-12T12:55:27.233731+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BUB1B as ready",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2022-12-12T12:55:27.219191+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bub1b has been classified as Green List (High Evidence).",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2022-12-12T12:53:14.302284+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BUB1B were changed from to Mosaic variegated aneuploidy syndrome 1, MIM# 257300",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2022-12-12T12:52:35.464451+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BUB1B were set to ",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2022-12-12T12:49:55.220826+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BUB1B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2022-12-12T12:46:55.294074+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BUB1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mosaic variegated aneuploidy syndrome 1, MIM# 257300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2022-12-12T11:24:39.330603+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5124",
"user_name": "Liyan Song",
"item_type": "entity",
"text": "reviewed gene: BUB1B: Rating: AMBER; Mode of pathogenicity: None; Publications: 21190457, 15475955, 15098245; Phenotypes: Mosaic variegated aneuploidy syndrome 1, MIM: #257300, Premature chromatid separation trait, MIM: #176430; Mode of inheritance: Other",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:35:51.982711+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: GLA: For review: screen only for males or include both?",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:35:30.153979+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLA as ready",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:35:30.141091+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gla has been classified as Green List (High Evidence).",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:35:26.224506+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLA were changed from Fabry disease to Fabry disease (MIM# 301500)",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:35:15.042237+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GLA were set to ",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:34:51.783342+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: GLA.\nTag metabolic tag was added to gene: GLA.",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:34:39.086363+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fabry disease (MIM# 301500); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:33:51.530962+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GGCX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Vitamin K-dependent clotting factors, combined deficiency of, 1 MIM# 277450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GGCX",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:33:38.524887+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GGCX as ready",
"entity_name": "GGCX",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:33:38.511607+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ggcx has been classified as Green List (High Evidence).",
"entity_name": "GGCX",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:33:31.276374+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GGCX were set to ",
"entity_name": "GGCX",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:33:10.429847+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: GGCX.\nTag haematological tag was added to gene: GGCX.",
"entity_name": "GGCX",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:31:44.364723+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNPTG as ready",
"entity_name": "GNPTG",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:31:44.345241+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnptg has been classified as Red List (Low Evidence).",
"entity_name": "GNPTG",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:31:40.879393+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNPTG were changed from Mucolipidosis III gamma to Mucolipidosis III gamma, MIM# 252605",
"entity_name": "GNPTG",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:31:27.725592+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNPTG were set to ",
"entity_name": "GNPTG",
"entity_type": "gene"
},
{
"created": "2022-12-12T09:31:16.481018+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GNPTG as Red List (low evidence)",
"entity_name": "GNPTG",
"entity_type": "gene"
}
]
}