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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=655",
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"results": [
{
"created": "2022-12-27T19:38:12.040927+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag endocrine tag was added to gene: DUOX2.",
"entity_name": "DUOX2",
"entity_type": "gene"
},
{
"created": "2022-12-27T19:37:49.103685+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: DPAGT1.\nTag neurological tag was added to gene: DPAGT1.",
"entity_name": "DPAGT1",
"entity_type": "gene"
},
{
"created": "2022-12-27T19:37:19.008086+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag neurological tag was added to gene: DOK7.",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2022-12-27T19:36:59.484100+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag immunological tag was added to gene: DOCK8.",
"entity_name": "DOCK8",
"entity_type": "gene"
},
{
"created": "2022-12-27T19:27:18.934734+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag immunological tag was added to gene: DNMT3B.",
"entity_name": "DNMT3B",
"entity_type": "gene"
},
{
"created": "2022-12-27T19:26:49.820193+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DNAJB6 as Red List (low evidence)",
"entity_name": "DNAJB6",
"entity_type": "gene"
},
{
"created": "2022-12-27T19:26:49.807652+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnajb6 has been classified as Red List (Low Evidence).",
"entity_name": "DNAJB6",
"entity_type": "gene"
},
{
"created": "2022-12-27T19:26:37.167723+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DNAJB6: Changed rating: RED",
"entity_name": "DNAJB6",
"entity_type": "gene"
},
{
"created": "2022-12-27T19:26:06.599798+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: DMP1.\nTag skeletal tag was added to gene: DMP1.",
"entity_name": "DMP1",
"entity_type": "gene"
},
{
"created": "2022-12-27T19:25:24.548057+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag metabolic tag was added to gene: DHCR7.",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2022-12-27T19:25:02.162366+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag gastrointestinal tag was added to gene: DGAT1.",
"entity_name": "DGAT1",
"entity_type": "gene"
},
{
"created": "2022-12-27T19:24:36.214750+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag deafness tag was added to gene: DFNB59.",
"entity_name": "DFNB59",
"entity_type": "gene"
},
{
"created": "2022-12-27T19:24:01.943150+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag metabolic tag was added to gene: DDC.",
"entity_name": "DDC",
"entity_type": "gene"
},
{
"created": "2022-12-27T19:23:34.536944+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag immunological tag was added to gene: DCLRE1C.",
"entity_name": "DCLRE1C",
"entity_type": "gene"
},
{
"created": "2022-12-27T19:23:08.476312+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag metabolic tag was added to gene: DBT.",
"entity_name": "DBT",
"entity_type": "gene"
},
{
"created": "2022-12-27T12:19:32.120208+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag endocrine tag was added to gene: CYP27B1.",
"entity_name": "CYP27B1",
"entity_type": "gene"
},
{
"created": "2022-12-27T12:19:10.956458+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag endocrine tag was added to gene: CYP17A1.",
"entity_name": "CYP17A1",
"entity_type": "gene"
},
{
"created": "2022-12-27T12:18:48.317642+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag endocrine tag was added to gene: CYP11B2.",
"entity_name": "CYP11B2",
"entity_type": "gene"
},
{
"created": "2022-12-27T12:18:20.971310+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag endocrine tag was added to gene: CYP11B1.",
"entity_name": "CYP11B1",
"entity_type": "gene"
},
{
"created": "2022-12-27T12:18:02.527847+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag endocrine tag was added to gene: CYP11A1.",
"entity_name": "CYP11A1",
"entity_type": "gene"
},
{
"created": "2022-12-27T12:17:41.572884+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag immunological tag was added to gene: CYBB.",
"entity_name": "CYBB",
"entity_type": "gene"
},
{
"created": "2022-12-27T12:17:10.723817+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag immunological tag was added to gene: CYBA.",
"entity_name": "CYBA",
"entity_type": "gene"
},
{
"created": "2022-12-27T12:16:47.500294+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag immunological tag was added to gene: CXCR4.",
"entity_name": "CXCR4",
"entity_type": "gene"
},
{
"created": "2022-12-27T12:16:23.107113+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag haematological tag was added to gene: CUBN.",
"entity_name": "CUBN",
"entity_type": "gene"
},
{
"created": "2022-12-27T12:15:57.357206+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag immunological tag was added to gene: CTPS1.",
"entity_name": "CTPS1",
"entity_type": "gene"
},
{
"created": "2022-12-27T12:15:34.856556+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag renal tag was added to gene: CTNS.",
"entity_name": "CTNS",
"entity_type": "gene"
},
{
"created": "2022-12-27T12:15:11.801486+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag immunological tag was added to gene: CSF3R.",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2022-12-27T12:14:39.360870+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CRTAP.\nTag skeletal tag was added to gene: CRTAP.",
"entity_name": "CRTAP",
"entity_type": "gene"
},
{
"created": "2022-12-27T12:14:13.764711+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag metabolic tag was added to gene: CPT2.",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2022-12-27T12:13:51.233859+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag metabolic tag was added to gene: CPT1A.",
"entity_name": "CPT1A",
"entity_type": "gene"
},
{
"created": "2022-12-27T12:13:25.034106+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag metabolic tag was added to gene: CPS1.",
"entity_name": "CPS1",
"entity_type": "gene"
},
{
"created": "2022-12-27T12:12:49.180451+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag metabolic tag was added to gene: COQ8A.",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2022-12-27T12:12:27.361532+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag metabolic tag was added to gene: COQ4.",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2022-12-27T12:12:02.471713+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag neurological tag was added to gene: COLQ.",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2022-12-27T11:53:07.150156+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CASR as ready",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2022-12-27T11:53:07.137798+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: casr has been classified as Green List (High Evidence).",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2022-12-27T11:53:03.422938+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CASR were changed from Hyperparathyroidism, neonatal, MIM#\t239200 to Hypocalcemia, autosomal dominant MIM#601198; Hyperparathyroidism, neonatal MIM#239200",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2022-12-27T11:52:50.133321+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1686",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CASR was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2022-12-27T11:52:36.593352+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1685",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: AD hypoCa: Established gene-disease association.\r\n\r\nCongenital onset.\r\n\r\nTreatment: Thiazide diuretics, calcium, calcitriol.\r\n\r\nNon-genetic confirmatory testing: parathyroid hormone level, urinary calcium excretion, serum calcium.; to: AD hypoCa: Established gene-disease association.\r\n\r\nCongenital onset.\r\n\r\nTreatment: Thiazide diuretics, calcium, calcitriol.\r\n\r\nNon-genetic confirmatory testing: parathyroid hormone level, urinary calcium excretion, serum calcium.\r\n\r\nAD/AR hyperparathyroidism: established gene-disease association.\r\n\r\nCongenital onset.\r\n\r\nTreatment: bisphosphonate, parathyroidectomy, cinacalcet\r\n\r\nNon-genetic confirmatory testing: Ca, PTH.",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2022-12-27T11:51:37.659240+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1685",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Established gene-disease association.\r\n\r\nCongenital onset.\r\n\r\nTreatment: Thiazide diuretics, calcium, calcitriol.\r\n\r\nNon-genetic confirmatory testing: parathyroid hormone level, urinary calcium excretion, serum calcium.; to: AD hypoCa: Established gene-disease association.\r\n\r\nCongenital onset.\r\n\r\nTreatment: Thiazide diuretics, calcium, calcitriol.\r\n\r\nNon-genetic confirmatory testing: parathyroid hormone level, urinary calcium excretion, serum calcium.",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2022-12-27T11:51:16.839994+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1685",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CASR: Changed phenotypes: Hypocalcemia, autosomal dominant MIM#601198, Hyperparathyroidism, neonatal MIM#239200",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2022-12-27T11:50:52.857929+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1685",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CASR: Changed phenotypes: Hypocalciuric hypercalcemia, type I, MIM# 145980, Hyperparathyroidism, neonatal MIM#239200",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2022-12-27T11:50:18.552696+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1685",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CASR: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2022-12-27T11:49:49.177955+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1685",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CASR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2022-12-27T11:49:36.339525+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Treatment: Thiazide diuretics, calcium, calcitriol; to: Established gene-disease association.\r\n\r\nCongenital onset.\r\n\r\nTreatment: Thiazide diuretics, calcium, calcitriol.\r\n\r\nNon-genetic confirmatory testing: parathyroid hormone level, urinary calcium excretion, serum calcium.",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2022-12-27T11:49:03.578406+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CASR: Changed phenotypes: Hypocalciuric hypercalcemia, type I, MIM# 145980",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2022-12-27T11:48:43.502921+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CASR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2022-12-27T11:47:17.229334+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL4A3 as ready",
"entity_name": "COL4A3",
"entity_type": "gene"
},
{
"created": "2022-12-27T11:47:17.216932+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a3 has been classified as Green List (High Evidence).",
"entity_name": "COL4A3",
"entity_type": "gene"
},
{
"created": "2022-12-27T11:47:08.705457+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A3 were changed from Alport syndrome to Alport syndrome 2, autosomal recessive, MIM# 203780",
"entity_name": "COL4A3",
"entity_type": "gene"
},
{
"created": "2022-12-27T11:46:50.527662+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1683",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL4A3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL4A3",
"entity_type": "gene"
},
{
"created": "2022-12-27T11:46:38.609236+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1682",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: COL4A3.\nTag renal tag was added to gene: COL4A3.",
"entity_name": "COL4A3",
"entity_type": "gene"
},
{
"created": "2022-12-27T11:46:26.513738+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1682",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL4A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alport syndrome 2, autosomal recessive, MIM# 203780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL4A3",
"entity_type": "gene"
},
{
"created": "2022-12-27T11:43:25.818306+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1682",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL4A4 as ready",
"entity_name": "COL4A4",
"entity_type": "gene"
},
{
"created": "2022-12-27T11:43:25.805432+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1682",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a4 has been classified as Green List (High Evidence).",
"entity_name": "COL4A4",
"entity_type": "gene"
},
{
"created": "2022-12-27T11:43:19.217188+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1682",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A4 were changed from Alport syndrome to Alport syndrome 2, autosomal recessive MIM#203780",
"entity_name": "COL4A4",
"entity_type": "gene"
},
{
"created": "2022-12-27T11:42:10.402663+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: COL4A4.\nTag renal tag was added to gene: COL4A4.",
"entity_name": "COL4A4",
"entity_type": "gene"
},
{
"created": "2022-12-27T11:41:46.260187+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Assessed as 'strongly actionable' in paediatric patients by ClinGen.\r\n\r\nTreatment: ACE inhibitors alter long-term outcomes.\r\n\r\nIndividuals with AR AS are recommended to be treated with ACEi at diagnosis (if older than 12-24 months), even before the onset of proteinuria.; to: Well established gene-disease association.\r\n\r\nAssessed as 'strongly actionable' in paediatric patients by ClinGen.\r\n\r\nTreatment: ACE inhibitors alter long-term outcomes.\r\n\r\nIndividuals with AR AS are recommended to be treated with ACEi at diagnosis (if older than 12-24 months), even before the onset of proteinuria.",
"entity_name": "COL4A4",
"entity_type": "gene"
},
{
"created": "2022-12-27T11:41:15.753431+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Assessed as 'strongly actionable' in paediatric patients by ClinGen.\r\n\r\nTreatment: ACE inhibitors alter long-term outcomes.\r\n\r\nMales with XLAS are recommended to be treated with ACEi at diagnosis (if older than 12-24 months), even before the onset of proteinuria. Guidelines differ slightly for the initiation of treatment in females with XLAS; one guideline recommends initiation of treatment at onset of microalbuminuria while a second recommends initiation at onset of microalbuminuria, hypertension, or renal impairment.; to: Assessed as 'strongly actionable' in paediatric patients by ClinGen.\r\n\r\nTreatment: ACE inhibitors alter long-term outcomes.\r\n\r\nIndividuals with AR AS are recommended to be treated with ACEi at diagnosis (if older than 12-24 months), even before the onset of proteinuria.",
"entity_name": "COL4A4",
"entity_type": "gene"
},
{
"created": "2022-12-27T11:40:55.726227+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COL4A4: Changed rating: GREEN; Changed phenotypes: Alport syndrome 2, autosomal recessive MIM#203780; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL4A4",
"entity_type": "gene"
},
{
"created": "2022-12-27T11:39:32.911610+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: COL4A4",
"entity_name": "COL4A4",
"entity_type": "gene"
},
{
"created": "2022-12-27T11:39:11.960665+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.\r\n\r\nNatural history: In males, truncating variants in COL4A5 are associated with an earlier age at onset of kidney failure; risk of ESRD before age 30 is estimated as 90% for large rearrangements and pathogenic nonsense and frameshift variants, 70% for splice variants, and 50% for missense variants. In males, progressive SNHL is usually present by late childhood or early adolescence, and interior lenticous typically becomes apparent in late adolescence or early adulthood. In females, renal disease ranges from asymptomatic disease to lifelong microhematuria to renal failure at a young age. In females, progressive SNHL is typically later in life, lenticonus may not occur, and central retinopathy is rare.\r\n\r\nAssessed as 'strongly actionable' in paediatric patients by ClinGen.\r\n\r\nTreatment: ACE inhibitors alter long-term outcomes.\r\n\r\nMales with XLAS are recommended to be treated with ACEi at diagnosis (if older than 12-24 months), even before the onset of proteinuria. Guidelines differ slightly for the initiation of treatment in females with XLAS; one guideline recommends initiation of treatment at onset of microalbuminuria while a second recommends initiation at onset of microalbuminuria, hypertension, or renal impairment.\r\n\r\nFor review: screen both males and females?; to: Well established gene-disease association.\r\n\r\nNatural history: In males, truncating variants in COL4A5 are associated with an earlier age at onset of kidney failure; risk of ESRD before age 30 is estimated as 90% for large rearrangements and pathogenic nonsense and frameshift variants, 70% for splice variants, and 50% for missense variants. In males, progressive SNHL is usually present by late childhood or early adolescence, and interior lenticous typically becomes apparent in late adolescence or early adulthood. In females, renal disease ranges from asymptomatic disease to lifelong microhematuria to renal failure at a young age. In females, progressive SNHL is typically later in life, lenticonus may not occur, and central retinopathy is rare.\r\n\r\nAssessed as 'strongly actionable' in paediatric patients by ClinGen.\r\n\r\nTreatment: ACE inhibitors alter long-term outcomes.\r\n\r\nMales with XLAS are recommended to be treated with ACEi at diagnosis (if older than 12-24 months), even before the onset of proteinuria. Guidelines differ slightly for the initiation of treatment in females with XLAS; one guideline recommends initiation of treatment at onset of microalbuminuria while a second recommends initiation at onset of microalbuminuria, hypertension, or renal impairment.\r\n",
"entity_name": "COL4A5",
"entity_type": "gene"
},
{
"created": "2022-12-27T11:38:14.369150+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag renal tag was added to gene: COL4A5.",
"entity_name": "COL4A5",
"entity_type": "gene"
},
{
"created": "2022-12-27T11:37:04.411381+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL3A1 as ready",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2022-12-27T11:37:04.397842+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col3a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2022-12-27T11:37:01.003791+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL3A1 were changed from Ehlers-Danlos syndrome, type IV to Ehlers-Danlos syndrome, vascular type, MIM# 130050",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2022-12-27T11:36:48.134986+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1680",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL3A1 as Amber List (moderate evidence)",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2022-12-27T11:36:48.120731+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1680",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col3a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2022-12-27T11:32:28.410956+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BUB1 were changed from Neurodevelopmental disorder, BUB1-related MONDO:0700092; Intellectual disability and microcephaly to Primary microcephaly-30 (MCPH30), MIM#620183",
"entity_name": "BUB1",
"entity_type": "gene"
},
{
"created": "2022-12-27T11:31:45.242925+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BUB1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary microcephaly-30 (MCPH30), MIM#620183; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BUB1",
"entity_type": "gene"
},
{
"created": "2022-12-27T11:31:26.502529+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BUB1 were changed from Neurodevelopmental disorder, BUB1-related MONDO:0700092; Intellectual disability and microcephaly to Primary microcephaly-30 (MCPH30), MIM#620183",
"entity_name": "BUB1",
"entity_type": "gene"
},
{
"created": "2022-12-27T11:30:50.372586+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BUB1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary microcephaly-30 (MCPH30), MIM#620183; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BUB1",
"entity_type": "gene"
},
{
"created": "2022-12-27T11:30:17.319023+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BUB1 were changed from Neurodevelopmental disorder, BUB1-related MONDO:0700092 to Primary microcephaly-30 (MCPH30), MIM#620183",
"entity_name": "BUB1",
"entity_type": "gene"
},
{
"created": "2022-12-27T11:29:31.093359+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BUB1: Changed phenotypes: primary microcephaly-30 (MCPH30), MIM#620183",
"entity_name": "BUB1",
"entity_type": "gene"
},
{
"created": "2022-12-24T18:06:47.451114+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: COL3A1.\nTag cardiac tag was added to gene: COL3A1.",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2022-12-24T18:06:32.166454+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL3A1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, vascular type, MIM# 130050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2022-12-24T18:01:13.872625+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: COL2A1.\nTag treatable tag was added to gene: COL2A1.\nTag ophthalmological tag was added to gene: COL2A1.",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2022-12-24T18:00:36.884273+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: COL1A2.\nTag skeletal tag was added to gene: COL1A2.",
"entity_name": "COL1A2",
"entity_type": "gene"
},
{
"created": "2022-12-24T17:56:00.388582+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag skeletal tag was added to gene: COL1A1.",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2022-12-24T17:55:23.667721+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag neurological tag was added to gene: COL13A1.",
"entity_name": "COL13A1",
"entity_type": "gene"
},
{
"created": "2022-12-24T17:54:57.228578+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag deafness tag was added to gene: COL11A2.",
"entity_name": "COL11A2",
"entity_type": "gene"
},
{
"created": "2022-12-24T17:54:33.387768+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: COL11A1.",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2022-12-24T17:54:09.637588+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag deafness tag was added to gene: COCH.",
"entity_name": "COCH",
"entity_type": "gene"
},
{
"created": "2022-12-24T17:53:07.479850+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CLPP.\nTag metabolic tag was added to gene: CLPP.",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2022-12-24T17:52:22.628157+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag deafness tag was added to gene: CLDN14.",
"entity_name": "CLDN14",
"entity_type": "gene"
},
{
"created": "2022-12-24T17:22:25.400403+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag skeletal tag was added to gene: CLCN7.",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2022-12-24T17:21:58.603634+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag deafness tag was added to gene: CIB2.",
"entity_name": "CIB2",
"entity_type": "gene"
},
{
"created": "2022-12-24T17:21:39.370694+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CHRNE.\nTag neurological tag was added to gene: CHRNE.",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2022-12-24T17:21:08.213118+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CHRND.\nTag neurological tag was added to gene: CHRND.",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2022-12-24T17:20:44.401796+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag neurological tag was added to gene: CHRNA1.",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2022-12-24T17:20:19.641782+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag neurological tag was added to gene: CHAT.",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2022-12-24T17:19:56.695660+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag respiratory tag was added to gene: CFTR.",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2022-12-24T17:19:30.174685+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CFP.\nTag immunological tag was added to gene: CFP.",
"entity_name": "CFP",
"entity_type": "gene"
},
{
"created": "2022-12-24T17:16:41.170228+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDKN1C as ready",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2022-12-24T17:16:41.157114+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdkn1c has been classified as Green List (High Evidence).",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2022-12-24T17:16:37.206918+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDKN1C were changed from Beckwith-Wiedemann syndrome, MIM#130650 to IMAGe syndrome, MIM# 614732",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2022-12-24T17:16:26.665615+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1678",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDKN1C was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2022-12-24T17:16:13.753632+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CDKN1C.\nTag endocrine tag was added to gene: CDKN1C.",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2022-12-24T17:16:02.173350+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDKN1C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: IMAGe syndrome, MIM# 614732; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2022-12-24T17:13:36.870422+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag deafness tag was added to gene: CDH23.",
"entity_name": "CDH23",
"entity_type": "gene"
}
]
}