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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=658",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=656",
"results": [
{
"created": "2022-12-23T14:12:41.286890+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PROS1 as Red List (low evidence)",
"entity_name": "PROS1",
"entity_type": "gene"
},
{
"created": "2022-12-23T14:12:41.269019+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pros1 has been classified as Red List (Low Evidence).",
"entity_name": "PROS1",
"entity_type": "gene"
},
{
"created": "2022-12-23T14:12:28.760124+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PROS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombophilia 5 due to protein S deficiency, autosomal dominant, MIM# 612336, Thrombophilia 5 due to protein S deficiency, autosomal recessive, MIM# 614514; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PROS1",
"entity_type": "gene"
},
{
"created": "2022-12-23T14:10:24.028737+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PROP1 as ready",
"entity_name": "PROP1",
"entity_type": "gene"
},
{
"created": "2022-12-23T14:10:24.000414+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prop1 has been classified as Green List (High Evidence).",
"entity_name": "PROP1",
"entity_type": "gene"
},
{
"created": "2022-12-23T14:10:17.747064+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: PROP1.\nTag endocrine tag was added to gene: PROP1.",
"entity_name": "PROP1",
"entity_type": "gene"
},
{
"created": "2022-12-23T14:10:04.327355+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PROP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 2 (MIM#262600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PROP1",
"entity_type": "gene"
},
{
"created": "2022-12-23T14:08:23.746204+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PROKR2 as ready",
"entity_name": "PROKR2",
"entity_type": "gene"
},
{
"created": "2022-12-23T14:08:23.734516+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prokr2 has been classified as Red List (Low Evidence).",
"entity_name": "PROKR2",
"entity_type": "gene"
},
{
"created": "2022-12-23T14:08:19.736156+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PROKR2 were changed from Hypogonadotropic hypogonadism to Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200",
"entity_name": "PROKR2",
"entity_type": "gene"
},
{
"created": "2022-12-23T14:08:03.822174+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PROKR2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PROKR2",
"entity_type": "gene"
},
{
"created": "2022-12-23T14:07:53.500670+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PROKR2 as Red List (low evidence)",
"entity_name": "PROKR2",
"entity_type": "gene"
},
{
"created": "2022-12-23T14:07:53.489502+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prokr2 has been classified as Red List (Low Evidence).",
"entity_name": "PROKR2",
"entity_type": "gene"
},
{
"created": "2022-12-23T14:07:40.725258+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PROKR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PROKR2",
"entity_type": "gene"
},
{
"created": "2022-12-23T14:05:39.912878+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PROC as ready",
"entity_name": "PROC",
"entity_type": "gene"
},
{
"created": "2022-12-23T14:05:39.900454+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: proc has been classified as Red List (Low Evidence).",
"entity_name": "PROC",
"entity_type": "gene"
},
{
"created": "2022-12-23T14:05:36.072525+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PROC were changed from Thrombophilia due to protein C deficiency to Thrombophilia due to protein C deficiency, autosomal dominant (176860); Thrombophilia due to protein C deficiency, autosomal recessive (612304)",
"entity_name": "PROC",
"entity_type": "gene"
},
{
"created": "2022-12-23T14:05:23.326452+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PROC was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PROC",
"entity_type": "gene"
},
{
"created": "2022-12-23T14:05:13.837439+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1624",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PROC as Red List (low evidence)",
"entity_name": "PROC",
"entity_type": "gene"
},
{
"created": "2022-12-23T14:05:13.826632+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1624",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: proc has been classified as Red List (Low Evidence).",
"entity_name": "PROC",
"entity_type": "gene"
},
{
"created": "2022-12-23T14:05:00.303188+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PROC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombophilia due to protein C deficiency, autosomal dominant (176860), Thrombophilia due to protein C deficiency, autosomal recessive (612304); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PROC",
"entity_type": "gene"
},
{
"created": "2022-12-23T14:02:59.387898+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRKDC as ready",
"entity_name": "PRKDC",
"entity_type": "gene"
},
{
"created": "2022-12-23T14:02:59.373962+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prkdc has been classified as Green List (High Evidence).",
"entity_name": "PRKDC",
"entity_type": "gene"
},
{
"created": "2022-12-23T14:02:51.586763+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: PRKDC.\nTag immunological tag was added to gene: PRKDC.",
"entity_name": "PRKDC",
"entity_type": "gene"
},
{
"created": "2022-12-23T14:02:40.155094+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRKDC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 26, with or without neurologic abnormalities MIM# 615966; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRKDC",
"entity_type": "gene"
},
{
"created": "2022-12-23T14:00:49.015136+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRKAR1A as ready",
"entity_name": "PRKAR1A",
"entity_type": "gene"
},
{
"created": "2022-12-23T14:00:49.003796+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prkar1a has been classified as Red List (Low Evidence).",
"entity_name": "PRKAR1A",
"entity_type": "gene"
},
{
"created": "2022-12-23T14:00:44.577672+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRKAR1A were changed from Carney complex to Acrodysostosis 1, with or without hormone resistance, MIM# 101800; Carney complex, type 1, MIM# 160980; Myxoma, intracardiac, MIM# 255960; Pigmented nodular adrenocortical disease, primary, 1, MIM# 610489",
"entity_name": "PRKAR1A",
"entity_type": "gene"
},
{
"created": "2022-12-23T14:00:32.898654+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRKAR1A as Red List (low evidence)",
"entity_name": "PRKAR1A",
"entity_type": "gene"
},
{
"created": "2022-12-23T14:00:32.886153+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prkar1a has been classified as Red List (Low Evidence).",
"entity_name": "PRKAR1A",
"entity_type": "gene"
},
{
"created": "2022-12-23T14:00:20.794949+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRKAR1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Acrodysostosis 1, with or without hormone resistance, MIM# 101800, Carney complex, type 1, MIM# 160980, Myxoma, intracardiac, MIM# 255960, Pigmented nodular adrenocortical disease, primary, 1, MIM# 610489; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRKAR1A",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:57:50.180830+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRF1 as ready",
"entity_name": "PRF1",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:57:50.167363+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prf1 has been classified as Green List (High Evidence).",
"entity_name": "PRF1",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:57:39.681235+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: PRF1.\nTag immunological tag was added to gene: PRF1.",
"entity_name": "PRF1",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:57:20.287950+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Treatment: Emapalumab, bone marrow transplant; to: Well established gene-disease association.\r\n\r\nOnset is generally in infancy or early childhood.\r\n\r\nTreatment: Emapalumab, bone marrow transplant.\r\n\r\nNon-genetic confirmatory tests: natural killer cell activity, cytotoxic T lymphocyte activity",
"entity_name": "PRF1",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:56:09.775746+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PRF1: Changed phenotypes: Hemophagocytic lymphohistiocytosis, familial, 2 603553",
"entity_name": "PRF1",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:55:45.984023+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRF1",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:51:02.419585+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PNPO as ready",
"entity_name": "PNPO",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:51:02.402689+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnpo has been classified as Green List (High Evidence).",
"entity_name": "PNPO",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:50:57.065569+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PNPO were set to ",
"entity_name": "PNPO",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:50:41.498772+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PNPO were changed from Epileptic encephalopathy, neonatal, MIM#610090 to Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090",
"entity_name": "PNPO",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:50:29.267506+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: PNPO.\nTag metabolic tag was added to gene: PNPO.",
"entity_name": "PNPO",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:49:40.966364+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPT1 as ready",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:49:40.954740+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppt1 has been classified as Red List (Low Evidence).",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:49:36.576880+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PPT1 were set to ",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:49:30.516255+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPT1 were changed from Neuronal ceroid lipofuscinosis to Ceroid lipofuscinosis, neuronal, 1, MIM# 256730",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:49:18.473640+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPT1 as Red List (low evidence)",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:49:18.461128+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppt1 has been classified as Red List (Low Evidence).",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:47:55.903509+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POU4F3 as ready",
"entity_name": "POU4F3",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:47:55.891766+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pou4f3 has been classified as Red List (Low Evidence).",
"entity_name": "POU4F3",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:47:52.330912+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POU4F3 were changed from Deafness, autosomal dominant to Deafness, autosomal dominant 15, MIM# 602459",
"entity_name": "POU4F3",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:47:39.787355+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POU4F3 as Red List (low evidence)",
"entity_name": "POU4F3",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:47:39.776028+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pou4f3 has been classified as Red List (Low Evidence).",
"entity_name": "POU4F3",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:47:28.566490+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1614",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POU4F3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 15, MIM# 602459; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "POU4F3",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:45:37.026586+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1614",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POU3F4 as ready",
"entity_name": "POU3F4",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:45:37.009963+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1614",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pou3f4 has been classified as Red List (Low Evidence).",
"entity_name": "POU3F4",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:45:32.901637+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1614",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POU3F4 were changed from Deafness, X-linked to Deafness, X-linked 2, MIM#304400",
"entity_name": "POU3F4",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:45:19.453644+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1613",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POU3F4 as Red List (low evidence)",
"entity_name": "POU3F4",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:45:19.440471+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1613",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pou3f4 has been classified as Red List (Low Evidence).",
"entity_name": "POU3F4",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:45:08.790807+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1612",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "edited their review of gene: PYGL: Changed rating: GREEN",
"entity_name": "PYGL",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:45:07.024997+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1612",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POU3F4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, X-linked 2, MIM#304400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "POU3F4",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:44:52.459522+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1612",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "edited their review of gene: PYGL: Changed publications: PMID: 30659246, PMID: 35725468, PMID: 20301760; Changed phenotypes: hepatomegaly, hypoglycaemia, cardiomyopathy, short stature",
"entity_name": "PYGL",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:43:05.528513+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1612",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POU1F1 as ready",
"entity_name": "POU1F1",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:43:05.515109+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1612",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pou1f1 has been classified as Green List (High Evidence).",
"entity_name": "POU1F1",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:42:57.392152+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1612",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POU1F1 were changed from Pituitary hormone deficiency, MIM#613038 to Pituitary hormone deficiency, combined, 1 MIM# 613038",
"entity_name": "POU1F1",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:42:44.412777+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POU1F1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "POU1F1",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:42:33.497583+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: POU1F1.\nTag endocrine tag was added to gene: POU1F1.",
"entity_name": "POU1F1",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:42:19.378037+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POU1F1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 1 MIM# 613038; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "POU1F1",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:41:17.435490+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1610",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "commented on gene: PYGL: Generally a mild disorder - presenting in early childhood with hepatomegaly due to glycogen storage\r\n\r\nsome at risk of hypoglycaemia; some may develop muscle cramps or cardiomyopathy\r\n\r\nrisk of hepatic adenomas - ultrasound surveillance recommended from 5 yrs\r\n\r\ntreatment cornstarch and high protein diet - growth improves and hypoglycaemia is no longer problem",
"entity_name": "PYGL",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:41:16.803938+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1610",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: PYGL: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: hepatomegaly, hypoglycaemia, cardiomyo; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PYGL",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:40:29.222432+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PORCN as ready",
"entity_name": "PORCN",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:40:29.198334+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: porcn has been classified as Red List (Low Evidence).",
"entity_name": "PORCN",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:40:24.671031+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PORCN were changed from Focal dermal hypoplasia to Focal dermal hypoplasia, MIM#305600",
"entity_name": "PORCN",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:40:11.709594+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1609",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PORCN 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": "PORCN",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:39:51.816392+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PORCN as Red List (low evidence)",
"entity_name": "PORCN",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:39:51.803808+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: porcn has been classified as Red List (Low Evidence).",
"entity_name": "PORCN",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:39:40.136675+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1607",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PORCN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Focal dermal hypoplasia, MIM#305600; 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": "PORCN",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:34:07.575786+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1607",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: PSPH: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 29899766; Phenotypes: microcephaly, seizures, hypertonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PSPH",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:31:43.498358+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1607",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POR as ready",
"entity_name": "POR",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:31:43.472387+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1607",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: por has been classified as Green List (High Evidence).",
"entity_name": "POR",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:31:21.084764+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1607",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POR were changed from Disordered steroidogenesis with and without Antley-Bixler syndrome, MIM#201750 to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750; Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM# 613571",
"entity_name": "POR",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:31:02.548422+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: POR.\nTag endocrine tag was added to gene: POR.",
"entity_name": "POR",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:30:47.281478+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: POR: Changed rating: GREEN",
"entity_name": "POR",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:30:39.998436+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POR: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750, Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM# 613571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POR",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:25:33.676859+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1606",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: PPT1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 21990111; Phenotypes: neurodegeneration, seizures, ataxia, optic atrophy, retinal abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:20:49.668507+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POMT2 as ready",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:20:49.655812+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomt2 has been classified as Red List (Low Evidence).",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:20:46.072535+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POMT2 were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 MIM# 613158",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:20:28.542896+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1605",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POMT2 as Red List (low evidence)",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:20:28.530026+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1605",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomt2 has been classified as Red List (Low Evidence).",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:20:15.380824+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1604",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POMT2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:18:58.277442+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1604",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POMGNT1 as ready",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:18:58.249869+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1604",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomgnt1 has been classified as Red List (Low Evidence).",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:18:46.383324+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1604",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POMGNT1 were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 MIM#614830; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 MIM#618135; Retinitis pigmentosa 76, MIM# 617123",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:18:27.897460+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1603",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POMGNT1 as Red List (low evidence)",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:18:27.884710+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1603",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomgnt1 has been classified as Red List (Low Evidence).",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:18:14.349205+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POMGNT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 MIM#614830, Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 MIM#618135, Retinitis pigmentosa 76 617123; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:15:06.724028+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLH as ready",
"entity_name": "POLH",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:15:06.707084+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polh has been classified as Red List (Low Evidence).",
"entity_name": "POLH",
"entity_type": "gene"
},
{
"created": "2022-12-23T13:15:02.604746+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLH were changed from Xeroderma pigmentosum to Xeroderma pigmentosum, variant type, MIM# 278750",
"entity_name": "POLH",
"entity_type": "gene"
}
]
}