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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=660",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=658",
"results": [
{
"created": "2022-12-23T09:42:11.840769+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PKLR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "PKLR",
"entity_type": "gene"
},
{
"created": "2022-12-23T09:40:17.362513+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PKHD1 as ready",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2022-12-23T09:40:17.350733+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pkhd1 has been classified as Red List (Low Evidence).",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2022-12-23T09:39:36.176987+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PKHD1 were changed from Polycystic kidney and hepatic disease to Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2022-12-23T09:39:20.461028+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PKHD1 as Red List (low evidence)",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2022-12-23T09:39:20.446662+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pkhd1 has been classified as Red List (Low Evidence).",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2022-12-23T09:39:07.855870+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PKHD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2022-12-23T09:34:48.986607+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PKD2 as ready",
"entity_name": "PKD2",
"entity_type": "gene"
},
{
"created": "2022-12-23T09:34:48.972374+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pkd2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PKD2",
"entity_type": "gene"
},
{
"created": "2022-12-23T09:34:45.444855+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PKD2 were changed from Polycystic kidney disease to Polycystic kidney disease 2, MIM# 613095",
"entity_name": "PKD2",
"entity_type": "gene"
},
{
"created": "2022-12-23T09:34:31.968168+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PKD2 as Amber List (moderate evidence)",
"entity_name": "PKD2",
"entity_type": "gene"
},
{
"created": "2022-12-23T09:34:31.955490+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pkd2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PKD2",
"entity_type": "gene"
},
{
"created": "2022-12-23T09:34:21.478058+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: PKD2.\nTag treatable tag was added to gene: PKD2.\nTag renal tag was added to gene: PKD2.",
"entity_name": "PKD2",
"entity_type": "gene"
},
{
"created": "2022-12-23T09:34:07.913178+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.\r\n\r\nOnset of renal failure is generally in adulthood, though cysts are apparent earlier.\r\n\r\nTreatment: Tolvaptan; to: Well established gene-disease association.\r\n\r\nOnset of renal failure is generally in late adulthood, though cysts are apparent earlier.\r\n\r\nTreatment: Tolvaptan",
"entity_name": "PKD2",
"entity_type": "gene"
},
{
"created": "2022-12-23T09:32:42.504203+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PKD2: Changed phenotypes: Polycystic kidney disease 2, MIM# 613095",
"entity_name": "PKD2",
"entity_type": "gene"
},
{
"created": "2022-12-23T09:32:27.333459+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PKD2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PKD2",
"entity_type": "gene"
},
{
"created": "2022-12-23T09:28:00.107121+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PKD1 as ready",
"entity_name": "PKD1",
"entity_type": "gene"
},
{
"created": "2022-12-23T09:28:00.095074+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pkd1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PKD1",
"entity_type": "gene"
},
{
"created": "2022-12-23T09:27:56.112706+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PKD1 were changed from Polycystic kidney disease to Polycystic kidney disease 1, MIM# 173900",
"entity_name": "PKD1",
"entity_type": "gene"
},
{
"created": "2022-12-23T09:27:41.478098+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PKD1 as Amber List (moderate evidence)",
"entity_name": "PKD1",
"entity_type": "gene"
},
{
"created": "2022-12-23T09:27:41.466121+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pkd1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PKD1",
"entity_type": "gene"
},
{
"created": "2022-12-23T09:27:09.265615+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: PKD1.\nTag treatable tag was added to gene: PKD1.\nTag renal tag was added to gene: PKD1.",
"entity_name": "PKD1",
"entity_type": "gene"
},
{
"created": "2022-12-23T09:26:45.695940+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PKD1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 1, MIM# 173900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PKD1",
"entity_type": "gene"
},
{
"created": "2022-12-23T09:14:40.748294+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C3orf52 were changed from Localized hypotrichosis to Hypotrichosis-15, MIM#620177",
"entity_name": "C3orf52",
"entity_type": "gene"
},
{
"created": "2022-12-23T09:14:27.802440+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: C3orf52: Changed phenotypes: Hypotrichosis-15, MIM#620177",
"entity_name": "C3orf52",
"entity_type": "gene"
},
{
"created": "2022-12-23T09:14:08.044159+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C3orf52 were changed from Localized hypotrichosis to Hypotrichosis-15, MIM#620177",
"entity_name": "C3orf52",
"entity_type": "gene"
},
{
"created": "2022-12-23T09:13:41.341307+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: C3orf52: Changed phenotypes: Hypotrichosis-15, MIM#620177",
"entity_name": "C3orf52",
"entity_type": "gene"
},
{
"created": "2022-12-22T10:35:57.145833+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIK3CA as ready",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2022-12-22T10:35:57.133038+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3ca has been classified as Amber List (Moderate Evidence).",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2022-12-22T10:35:51.428657+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIK3CA as Amber List (moderate evidence)",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2022-12-22T10:35:51.415147+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3ca has been classified as Amber List (Moderate Evidence).",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2022-12-22T10:34:44.109308+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: PIK3CA.",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2022-12-22T10:34:31.432279+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIK3CA was added\ngene: PIK3CA was added to gNBS. Sources: Expert list\nMode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PIK3CA were set to 33392635; 33639990\nPhenotypes for gene: PIK3CA were set to PIK3CA related overgrowth spectrum\nReview for gene: PIK3CA was set to AMBER\nAdded comment: Established association with a range of overgrowth phenotypes.\r\n\r\nNote variants are SOMATIC and may not be detectable reliably.\r\n\r\nTreatment: alpelisib, miransertib. Unsure if these are available. \nSources: Expert list",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2022-12-22T10:31:25.405445+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1560",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PINK1 as ready",
"entity_name": "PINK1",
"entity_type": "gene"
},
{
"created": "2022-12-22T10:31:25.392834+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1560",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pink1 has been classified as Red List (Low Evidence).",
"entity_name": "PINK1",
"entity_type": "gene"
},
{
"created": "2022-12-22T10:31:21.535960+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1560",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PINK1 were changed from Parkinson disease 6, early onset to Parkinson disease 6, early onset, MIM#605909",
"entity_name": "PINK1",
"entity_type": "gene"
},
{
"created": "2022-12-22T10:31:00.490515+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PINK1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PINK1",
"entity_type": "gene"
},
{
"created": "2022-12-22T10:30:42.957602+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PINK1 as Red List (low evidence)",
"entity_name": "PINK1",
"entity_type": "gene"
},
{
"created": "2022-12-22T10:30:42.945349+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pink1 has been classified as Red List (Low Evidence).",
"entity_name": "PINK1",
"entity_type": "gene"
},
{
"created": "2022-12-22T10:30:32.120920+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PINK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Parkinson disease 6, early onset, MIM#605909; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PINK1",
"entity_type": "gene"
},
{
"created": "2022-12-22T10:28:56.114046+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIK3R1 as ready",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2022-12-22T10:28:56.102701+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3r1 has been classified as Green List (High Evidence).",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2022-12-22T10:28:41.745811+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIK3R1 were set to ",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2022-12-22T10:28:29.078583+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: PIK3R1.\nTag immunological tag was added to gene: PIK3R1.",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2022-12-22T10:28:16.790911+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIK3R1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31111319, 33401995, 34033842; Phenotypes: Immunodeficiency 36, MIM# 616005, Agammaglobulinemia 7, autosomal recessive , MIM# 615214; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2022-12-22T10:20:34.235922+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PIK3CD: Changed publications: 30040974, 30336224, 29180244, 16984281, 24136356, 24165795, 24610295, 30911953, 31111319, 34033842",
"entity_name": "PIK3CD",
"entity_type": "gene"
},
{
"created": "2022-12-22T10:20:20.678091+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIK3CD as ready",
"entity_name": "PIK3CD",
"entity_type": "gene"
},
{
"created": "2022-12-22T10:20:20.661227+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3cd has been classified as Green List (High Evidence).",
"entity_name": "PIK3CD",
"entity_type": "gene"
},
{
"created": "2022-12-22T10:20:07.881477+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIK3CD were changed from Immunodeficiency 14, MIM # 615513 to Immunodeficiency 14B, autosomal recessive, MIM# 619281; Immunodeficiency 14A, autosomal dominant, MIM# 615513",
"entity_name": "PIK3CD",
"entity_type": "gene"
},
{
"created": "2022-12-22T10:19:56.293631+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIK3CD were set to ",
"entity_name": "PIK3CD",
"entity_type": "gene"
},
{
"created": "2022-12-22T10:18:30.374952+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PIK3CD was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PIK3CD",
"entity_type": "gene"
},
{
"created": "2022-12-22T10:18:18.346501+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: PIK3CD.\nTag immunological tag was added to gene: PIK3CD.",
"entity_name": "PIK3CD",
"entity_type": "gene"
},
{
"created": "2022-12-22T10:18:05.627541+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIK3CD: Rating: GREEN; Mode of pathogenicity: None; Publications: 30040974, 30336224, 29180244, 16984281, 24136356, 24165795, 24610295; Phenotypes: Immunodeficiency 14B, autosomal recessive, MIM# 619281, Immunodeficiency 14A, autosomal dominant, MIM# 615513; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PIK3CD",
"entity_type": "gene"
},
{
"created": "2022-12-22T10:14:47.001118+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIEZO2 as ready",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2022-12-22T10:14:46.987541+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: piezo2 has been classified as Red List (Low Evidence).",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2022-12-22T10:14:42.917244+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIEZO2 were changed from Arthrogryposis, distal, type 5 to Marden-Walker syndrome (MIM#248700); Arthrogryposis, distal, type 3 (MIM#114300); Arthrogryposis, distal, type 5 (MIM#108145); Arthrogryposis, distal, with impaired proprioception and touch, MIM# 617146",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2022-12-22T10:14:30.994962+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PIEZO2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2022-12-22T10:14:20.932728+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIEZO2 as Red List (low evidence)",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2022-12-22T10:14:20.920734+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: piezo2 has been classified as Red List (Low Evidence).",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2022-12-22T10:14:08.614171+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIEZO2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Marden-Walker syndrome (MIM#248700), Arthrogryposis, distal, type 3 (MIM#114300), Arthrogryposis, distal, type 5 (MIM#108145), Arthrogryposis, distal, with impaired proprioception and touch, MIM# 617146; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2022-12-22T10:12:19.123701+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDZD7 as ready",
"entity_name": "PDZD7",
"entity_type": "gene"
},
{
"created": "2022-12-22T10:12:19.110403+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdzd7 has been classified as Green List (High Evidence).",
"entity_name": "PDZD7",
"entity_type": "gene"
},
{
"created": "2022-12-22T10:12:15.149613+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDZD7 were changed from Usher syndrome to Deafness, autosomal recessive 57, MIM# 618003; Usher syndrome, type IIC, GPR98/PDZD7 digenic, MIM# 605472",
"entity_name": "PDZD7",
"entity_type": "gene"
},
{
"created": "2022-12-22T10:11:57.654207+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PDZD7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 57, MIM# 618003, Usher syndrome, type IIC, GPR98/PDZD7 digenic, MIM# 605472; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDZD7",
"entity_type": "gene"
},
{
"created": "2022-12-22T10:03:42.118869+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PHF6 as ready",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2022-12-22T10:03:42.106328+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phf6 has been classified as Red List (Low Evidence).",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2022-12-22T10:03:34.804510+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PHF6: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2022-12-22T10:03:22.749370+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PHF6 were changed from Borjeson-Forssman-Lehmann syndrome to Borjeson-Forssman-Lehmann syndrome, MIM# 301900",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2022-12-22T10:03:08.703190+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PHF6 as Red List (low evidence)",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2022-12-22T10:03:08.691489+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phf6 has been classified as Red List (Low Evidence).",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2022-12-22T10:02:56.799619+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PHF6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Borjeson-Forssman-Lehmann syndrome, MIM# 301900; 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": "PHF6",
"entity_type": "gene"
},
{
"created": "2022-12-22T09:58:40.897077+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PHEX as ready",
"entity_name": "PHEX",
"entity_type": "gene"
},
{
"created": "2022-12-22T09:58:40.884698+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phex has been classified as Green List (High Evidence).",
"entity_name": "PHEX",
"entity_type": "gene"
},
{
"created": "2022-12-22T09:58:34.546835+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PHEX were set to ",
"entity_name": "PHEX",
"entity_type": "gene"
},
{
"created": "2022-12-22T09:58:17.984777+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PHEX was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "PHEX",
"entity_type": "gene"
},
{
"created": "2022-12-22T09:58:07.718304+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: PHEX.\nTag skeletal tag was added to gene: PHEX.",
"entity_name": "PHEX",
"entity_type": "gene"
},
{
"created": "2022-12-22T09:57:43.692014+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PHEX: Rating: GREEN; Mode of pathogenicity: None; Publications: 29791829; Phenotypes: Hypophosphatemic rickets, MIM#307800; 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": "PHEX",
"entity_type": "gene"
},
{
"created": "2022-12-22T09:53:22.104995+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PGM3 as ready",
"entity_name": "PGM3",
"entity_type": "gene"
},
{
"created": "2022-12-22T09:53:22.083887+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pgm3 has been classified as Green List (High Evidence).",
"entity_name": "PGM3",
"entity_type": "gene"
},
{
"created": "2022-12-22T09:53:12.877841+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: PGM3.\nTag immunological tag was added to gene: PGM3.",
"entity_name": "PGM3",
"entity_type": "gene"
},
{
"created": "2022-12-22T09:52:59.994728+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PGM3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 23, MIM# 615816; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PGM3",
"entity_type": "gene"
},
{
"created": "2022-12-22T09:47:43.109920+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSPEAR as ready",
"entity_name": "TSPEAR",
"entity_type": "gene"
},
{
"created": "2022-12-22T09:47:43.096818+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tspear has been classified as Green List (High Evidence).",
"entity_name": "TSPEAR",
"entity_type": "gene"
},
{
"created": "2022-12-22T09:47:40.497599+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TSPEAR were set to ",
"entity_name": "TSPEAR",
"entity_type": "gene"
},
{
"created": "2022-12-22T09:47:03.289483+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TSPEAR were changed from Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, MIM#618180 to Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, MIM#618180; Selective tooth agenesis-10 (STHAG10), MIM#620173",
"entity_name": "TSPEAR",
"entity_type": "gene"
},
{
"created": "2022-12-22T09:46:26.707490+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TSPEAR were set to 27736875; 30046887",
"entity_name": "TSPEAR",
"entity_type": "gene"
},
{
"created": "2022-12-22T09:45:56.984315+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TSPEAR: Added comment: More than 5 individuals reported with selective tooth agenesis.; Changed rating: GREEN; Changed publications: 30046887, 32112661, 34042254; Changed phenotypes: Selective tooth agenesis-10 (STHAG10), MIM#620173; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TSPEAR",
"entity_type": "gene"
},
{
"created": "2022-12-22T09:30:35.803615+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDK5 were set to 25560765",
"entity_name": "CDK5",
"entity_type": "gene"
},
{
"created": "2022-12-22T09:30:22.328512+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDK5 as Amber List (moderate evidence)",
"entity_name": "CDK5",
"entity_type": "gene"
},
{
"created": "2022-12-22T09:30:22.316578+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CDK5",
"entity_type": "gene"
},
{
"created": "2022-12-22T09:30:09.339904+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDK5: Rating: AMBER; Mode of pathogenicity: None; Publications: 25560765, 32273484, 32097629, 28854363, 7490100; Phenotypes: Lissencephaly 7 with cerebellar hypoplasia, MIM# 616342; Mode of inheritance: None",
"entity_name": "CDK5",
"entity_type": "gene"
},
{
"created": "2022-12-22T09:29:11.042263+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDK5 were set to 25560765",
"entity_name": "CDK5",
"entity_type": "gene"
},
{
"created": "2022-12-22T09:28:49.186394+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDK5 as Amber List (moderate evidence)",
"entity_name": "CDK5",
"entity_type": "gene"
},
{
"created": "2022-12-22T09:28:49.174727+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CDK5",
"entity_type": "gene"
},
{
"created": "2022-12-22T09:28:30.059800+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CDK5: Added comment: Upgraded to Amber following GenCC discrepancy resolution: single family with four affected individuals but extensive supportive experimental evidence including mouse models.; Changed rating: AMBER; Changed publications: 25560765, 32273484, 32097629, 28854363, 7490100",
"entity_name": "CDK5",
"entity_type": "gene"
},
{
"created": "2022-12-22T09:27:53.235573+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDK5 were set to 25560765",
"entity_name": "CDK5",
"entity_type": "gene"
},
{
"created": "2022-12-22T09:27:22.402016+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDK5 as Amber List (moderate evidence)",
"entity_name": "CDK5",
"entity_type": "gene"
},
{
"created": "2022-12-22T09:27:22.389741+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CDK5",
"entity_type": "gene"
},
{
"created": "2022-12-22T09:26:53.989325+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDK5 were set to 25560765",
"entity_name": "CDK5",
"entity_type": "gene"
},
{
"created": "2022-12-22T09:26:48.688397+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CDK5: Added comment: Upgraded to Amber following GenCC discrepancy resolution: single family with four affected individuals but extensive supportive experimental evidence including mouse models.; Changed rating: AMBER; Changed publications: 25560765, 32273484, 32097629, 28854363, 7490100; Changed phenotypes: Lissencephaly 7 with cerebellar hypoplasia, MIM# 616342",
"entity_name": "CDK5",
"entity_type": "gene"
}
]
}