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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1665",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1663",
"results": [
{
"created": "2020-08-20T19:10:05.814893+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAX3 as ready",
"entity_name": "PAX3",
"entity_type": "gene"
},
{
"created": "2020-08-20T19:10:05.804227+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pax3 has been classified as Green List (High Evidence).",
"entity_name": "PAX3",
"entity_type": "gene"
},
{
"created": "2020-08-20T19:09:59.368474+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAX3 were changed from to Craniofacial-deafness-hand syndrome (MIM#122880), AD 2; Waardenburg syndrome, type 1 (MIM#193500), AD; Waardenburg syndrome, type 3 (MIM#148820), AD, AR",
"entity_name": "PAX3",
"entity_type": "gene"
},
{
"created": "2020-08-20T19:09:17.280134+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3855",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PAX3 were set to ",
"entity_name": "PAX3",
"entity_type": "gene"
},
{
"created": "2020-08-20T19:09:00.443828+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PAX3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PAX3",
"entity_type": "gene"
},
{
"created": "2020-08-20T19:08:08.080132+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2846",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KANSL1 as ready",
"entity_name": "KANSL1",
"entity_type": "gene"
},
{
"created": "2020-08-20T19:08:08.071440+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2846",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kansl1 has been classified as Green List (High Evidence).",
"entity_name": "KANSL1",
"entity_type": "gene"
},
{
"created": "2020-08-20T19:08:04.375668+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2846",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KANSL1 were changed from to Koolen-De Vries syndrome (MIM#610443)",
"entity_name": "KANSL1",
"entity_type": "gene"
},
{
"created": "2020-08-20T19:07:34.813760+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2845",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KANSL1 were set to ",
"entity_name": "KANSL1",
"entity_type": "gene"
},
{
"created": "2020-08-20T19:07:10.978660+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KANSL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KANSL1",
"entity_type": "gene"
},
{
"created": "2020-08-20T19:06:39.919470+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2843",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KANSL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22544363; Phenotypes: Koolen-De Vries syndrome (MIM#610443); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KANSL1",
"entity_type": "gene"
},
{
"created": "2020-08-20T19:05:21.463726+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KANSL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22544363; Phenotypes: Koolen-De Vries syndrome (MIM#610443); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KANSL1",
"entity_type": "gene"
},
{
"created": "2020-08-20T19:04:18.169848+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: KANSL1.",
"entity_name": "KANSL1",
"entity_type": "gene"
},
{
"created": "2020-08-20T19:04:03.379869+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KANSL1 were set to ",
"entity_name": "KANSL1",
"entity_type": "gene"
},
{
"created": "2020-08-20T19:03:16.984096+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3852",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KANSL1 were changed from to Koolen-De Vries syndrome (MIM#610443)",
"entity_name": "KANSL1",
"entity_type": "gene"
},
{
"created": "2020-08-20T19:03:05.049586+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KANSL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KANSL1",
"entity_type": "gene"
},
{
"created": "2020-08-20T18:56:49.940212+10:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel name changed from Brain channelopathy to Brain Channelopathies",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-08-20T18:49:59.190084+10:00",
"panel_name": "Skeletal Muscle Channelopathies",
"panel_id": 302,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CASQ1 as ready",
"entity_name": "CASQ1",
"entity_type": "gene"
},
{
"created": "2020-08-20T18:49:59.178659+10:00",
"panel_name": "Skeletal Muscle Channelopathies",
"panel_id": 302,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: casq1 has been classified as Red List (Low Evidence).",
"entity_name": "CASQ1",
"entity_type": "gene"
},
{
"created": "2020-08-20T18:49:52.287399+10:00",
"panel_name": "Skeletal Muscle Channelopathies",
"panel_id": 302,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CASQ1 were changed from Myopathy, vacuolar, with casq1 aggregates to Myopathy, vacuolar, with CASQ1 aggregates, MIM# 616231",
"entity_name": "CASQ1",
"entity_type": "gene"
},
{
"created": "2020-08-20T18:49:30.610030+10:00",
"panel_name": "Skeletal Muscle Channelopathies",
"panel_id": 302,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CASQ1 as Red List (low evidence)",
"entity_name": "CASQ1",
"entity_type": "gene"
},
{
"created": "2020-08-20T18:49:30.599197+10:00",
"panel_name": "Skeletal Muscle Channelopathies",
"panel_id": 302,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: casq1 has been classified as Red List (Low Evidence).",
"entity_name": "CASQ1",
"entity_type": "gene"
},
{
"created": "2020-08-20T18:49:21.287021+10:00",
"panel_name": "Skeletal Muscle Channelopathies",
"panel_id": 302,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CASQ1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, vacuolar, with CASQ1 aggregates, MIM# 616231; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CASQ1",
"entity_type": "gene"
},
{
"created": "2020-08-20T18:40:58.620964+10:00",
"panel_name": "Skeletal Muscle Channelopathies",
"panel_id": 302,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP1A2 as ready",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2020-08-20T18:40:58.611964+10:00",
"panel_name": "Skeletal Muscle Channelopathies",
"panel_id": 302,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp1a2 has been classified as Red List (Low Evidence).",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2020-08-20T18:40:51.008098+10:00",
"panel_name": "Skeletal Muscle Channelopathies",
"panel_id": 302,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP1A2 was added\ngene: ATP1A2 was added to Skeletal Muscle Channelopathies. Sources: Expert list\nMode of inheritance for gene: ATP1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP1A2 were set to 30423015\nPhenotypes for gene: ATP1A2 were set to Hypokalaemic periodic paralysis\nReview for gene: ATP1A2 was set to RED\nAdded comment: Gene is classically associated with brain phenotypes such as alternating hemiplegia, but single report of hypokalaemia periodic paralysis with supporting functional data. \nSources: Expert list",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2020-08-20T18:25:06.854228+10:00",
"panel_name": "Brain channelopathy",
"panel_id": 74,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel name changed from Channelopathy to Brain channelopathy",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-08-20T18:17:42.993245+10:00",
"panel_name": "Channelopathy",
"panel_id": 74,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:SCN4A from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-08-20T18:17:10.825100+10:00",
"panel_name": "Skeletal Muscle Channelopathies",
"panel_id": 302,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN4A as ready",
"entity_name": "SCN4A",
"entity_type": "gene"
},
{
"created": "2020-08-20T18:17:10.813261+10:00",
"panel_name": "Skeletal Muscle Channelopathies",
"panel_id": 302,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn4a has been classified as Green List (High Evidence).",
"entity_name": "SCN4A",
"entity_type": "gene"
},
{
"created": "2020-08-20T18:17:07.571057+10:00",
"panel_name": "Skeletal Muscle Channelopathies",
"panel_id": 302,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCN4A were set to ",
"entity_name": "SCN4A",
"entity_type": "gene"
},
{
"created": "2020-08-20T18:16:55.848505+10:00",
"panel_name": "Skeletal Muscle Channelopathies",
"panel_id": 302,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 8385748, 11591859; Phenotypes: Hyperkalemic periodic paralysis, type 2, MIM# 170500, Hypokalemic periodic paralysis, type 2, MIM# 613345; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN4A",
"entity_type": "gene"
},
{
"created": "2020-08-20T18:15:46.196794+10:00",
"panel_name": "Channelopathy",
"panel_id": 74,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN4A as ready",
"entity_name": "SCN4A",
"entity_type": "gene"
},
{
"created": "2020-08-20T18:15:46.181012+10:00",
"panel_name": "Channelopathy",
"panel_id": 74,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn4a has been classified as Green List (High Evidence).",
"entity_name": "SCN4A",
"entity_type": "gene"
},
{
"created": "2020-08-20T18:14:41.007700+10:00",
"panel_name": "Channelopathy",
"panel_id": 74,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCN4A were changed from to Hyperkalemic periodic paralysis, type 2, MIM# 170500; Hypokalemic periodic paralysis, type 2, MIM# 613345",
"entity_name": "SCN4A",
"entity_type": "gene"
},
{
"created": "2020-08-20T18:14:25.065400+10:00",
"panel_name": "Channelopathy",
"panel_id": 74,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCN4A were set to ",
"entity_name": "SCN4A",
"entity_type": "gene"
},
{
"created": "2020-08-20T18:13:54.623828+10:00",
"panel_name": "Channelopathy",
"panel_id": 74,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCN4A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN4A",
"entity_type": "gene"
},
{
"created": "2020-08-20T18:13:30.996882+10:00",
"panel_name": "Channelopathy",
"panel_id": 74,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 8385748, 11591859; Phenotypes: Hyperkalemic periodic paralysis, type 2, MIM# 170500, Hypokalemic periodic paralysis, type 2, MIM# 613345; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN4A",
"entity_type": "gene"
},
{
"created": "2020-08-20T18:11:13.562951+10:00",
"panel_name": "Channelopathy",
"panel_id": 74,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN8A as ready",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2020-08-20T18:11:13.552079+10:00",
"panel_name": "Channelopathy",
"panel_id": 74,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn8a has been classified as Green List (High Evidence).",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2020-08-20T18:11:09.973355+10:00",
"panel_name": "Channelopathy",
"panel_id": 74,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCN8A were changed from to Myoclonus, familial, 2, MIM# 618364; epilepsy; paroxysmal kinesigenic dyskinesias",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2020-08-20T18:10:45.077251+10:00",
"panel_name": "Channelopathy",
"panel_id": 74,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCN8A were set to ",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2020-08-20T18:10:22.043533+10:00",
"panel_name": "Channelopathy",
"panel_id": 74,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCN8A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2020-08-20T18:09:59.269096+10:00",
"panel_name": "Channelopathy",
"panel_id": 74,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SCN8A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29726066, 27098556; Phenotypes: Myoclonus, familial, 2, MIM# 618364, epilepsy, paroxysmal kinesigenic dyskinesias; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2020-08-20T18:04:22.740473+10:00",
"panel_name": "Channelopathy",
"panel_id": 74,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNMA1 as ready",
"entity_name": "KCNMA1",
"entity_type": "gene"
},
{
"created": "2020-08-20T18:04:22.730586+10:00",
"panel_name": "Channelopathy",
"panel_id": 74,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnma1 has been classified as Green List (High Evidence).",
"entity_name": "KCNMA1",
"entity_type": "gene"
},
{
"created": "2020-08-20T18:04:20.090077+10:00",
"panel_name": "Channelopathy",
"panel_id": 74,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNMA1 were changed from to Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM# 609446",
"entity_name": "KCNMA1",
"entity_type": "gene"
},
{
"created": "2020-08-20T18:03:56.917962+10:00",
"panel_name": "Channelopathy",
"panel_id": 74,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNMA1 were set to ",
"entity_name": "KCNMA1",
"entity_type": "gene"
},
{
"created": "2020-08-20T18:03:31.265677+10:00",
"panel_name": "Channelopathy",
"panel_id": 74,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNMA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNMA1",
"entity_type": "gene"
},
{
"created": "2020-08-20T18:03:03.377616+10:00",
"panel_name": "Channelopathy",
"panel_id": 74,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNMA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15937479, 26195193; Phenotypes: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM# 609446; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNMA1",
"entity_type": "gene"
},
{
"created": "2020-08-20T17:58:18.167616+10:00",
"panel_name": "Channelopathy",
"panel_id": 74,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNJ2 as ready",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2020-08-20T17:58:18.156645+10:00",
"panel_name": "Channelopathy",
"panel_id": 74,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj2 has been classified as Green List (High Evidence).",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2020-08-20T17:58:15.408489+10:00",
"panel_name": "Channelopathy",
"panel_id": 74,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNJ2 were changed from to Andersen syndrome, MIM# 170390",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2020-08-20T17:57:51.339425+10:00",
"panel_name": "Channelopathy",
"panel_id": 74,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNJ2 were set to ",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2020-08-20T17:56:56.562073+10:00",
"panel_name": "Channelopathy",
"panel_id": 74,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNJ2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2020-08-20T17:56:04.021881+10:00",
"panel_name": "Channelopathy",
"panel_id": 74,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNJ2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16217063, 16571646, 16419128, 17324964; Phenotypes: Andersen syndrome, MIM# 170390; Mode of inheritance: None",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2020-08-20T17:33:46.891115+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3850",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: PAX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301703, 30854529; Phenotypes: Craniofacial-deafness-hand syndrome (MIM#122880), AD 2, Rhabdomyosarcoma 2, alveolar (MIM#268220), SMu, Waardenburg syndrome, type 1 (MIM#193500), AD, Waardenburg syndrome, type 3 (MIM#148820), AD, AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PAX3",
"entity_type": "gene"
},
{
"created": "2020-08-20T17:28:05.012880+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3850",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: KANSL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Koolen-De Vries syndrome (MIM#610443); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KANSL1",
"entity_type": "gene"
},
{
"created": "2020-08-20T17:00:27.581486+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ESRRB as ready",
"entity_name": "ESRRB",
"entity_type": "gene"
},
{
"created": "2020-08-20T17:00:27.569965+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: esrrb has been classified as Green List (High Evidence).",
"entity_name": "ESRRB",
"entity_type": "gene"
},
{
"created": "2020-08-20T17:00:12.274679+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ESRRB were changed from to Deafness, autosomal recessive 35, MIM#608565",
"entity_name": "ESRRB",
"entity_type": "gene"
},
{
"created": "2020-08-20T16:59:19.145739+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3849",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ESRRB were set to ",
"entity_name": "ESRRB",
"entity_type": "gene"
},
{
"created": "2020-08-20T16:59:03.304722+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ESRRB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ESRRB",
"entity_type": "gene"
},
{
"created": "2020-08-20T16:58:46.267380+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ESRRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 18179891, 31389194, 32681043; Phenotypes: Deafness, autosomal recessive 35, MIM#608565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ESRRB",
"entity_type": "gene"
},
{
"created": "2020-08-20T16:57:26.191824+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ESRRB as ready",
"entity_name": "ESRRB",
"entity_type": "gene"
},
{
"created": "2020-08-20T16:57:26.180562+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: esrrb has been classified as Green List (High Evidence).",
"entity_name": "ESRRB",
"entity_type": "gene"
},
{
"created": "2020-08-20T16:57:13.693644+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ESRRB were changed from to Deafness, autosomal recessive 35, MIM#608565",
"entity_name": "ESRRB",
"entity_type": "gene"
},
{
"created": "2020-08-20T16:56:43.492065+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.376",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ESRRB were set to ",
"entity_name": "ESRRB",
"entity_type": "gene"
},
{
"created": "2020-08-20T16:56:20.135354+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ESRRB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ESRRB",
"entity_type": "gene"
},
{
"created": "2020-08-20T16:55:51.093575+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ESRRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 18179891, 31389194, 32681043; Phenotypes: Deafness, autosomal recessive 35, MIM#608565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ESRRB",
"entity_type": "gene"
},
{
"created": "2020-08-20T16:36:56.727581+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: XLD. Listed as a cause of hydrops in a review, cannot find reported cases. \nSources: Expert list; to: XLD. Listed as a cause of hydrops in a review, but can only find a single reported case. \r\nSources: Expert list",
"entity_name": "EBP",
"entity_type": "gene"
},
{
"created": "2020-08-20T16:36:31.836886+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EBP: Changed publications: 23137060, 25754886; Changed phenotypes: Chondrodysplasia punctata, X-linked dominant, MIM# 302960",
"entity_name": "EBP",
"entity_type": "gene"
},
{
"created": "2020-08-20T16:34:19.944371+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARSE as ready",
"entity_name": "ARSE",
"entity_type": "gene"
},
{
"created": "2020-08-20T16:34:19.934163+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arse has been classified as Red List (Low Evidence).",
"entity_name": "ARSE",
"entity_type": "gene"
},
{
"created": "2020-08-20T16:32:49.737712+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARSE was added\ngene: ARSE was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ARSE were set to Chondrodysplasia punctata, X-linked recessive, MIM#\t302950\nReview for gene: ARSE was set to RED\nAdded comment: Cannot find reports linking with hydrops. \nSources: Expert list",
"entity_name": "ARSE",
"entity_type": "gene"
},
{
"created": "2020-08-20T16:10:33.442234+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARSA as ready",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2020-08-20T16:10:33.431982+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arsa has been classified as Red List (Low Evidence).",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2020-08-20T16:10:26.828808+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARSA was added\ngene: ARSA was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARSA were set to Metachromatic leukodystrophy, MIM#\t250100\nReview for gene: ARSA was set to RED\nAdded comment: MLD is a lysosomal disorder and several lysosomal disorders can present with hydrops. However symptom onset for MLD is typically 6-12 months, and I cannot find reports of hydrops associated with variants in ARSA. \nSources: Expert list",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2020-08-20T12:53:37.413864+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HNRNPA2B1 as ready",
"entity_name": "HNRNPA2B1",
"entity_type": "gene"
},
{
"created": "2020-08-20T12:53:37.405560+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnrnpa2b1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HNRNPA2B1",
"entity_type": "gene"
},
{
"created": "2020-08-20T12:53:28.721020+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HNRNPA2B1 as Amber List (moderate evidence)",
"entity_name": "HNRNPA2B1",
"entity_type": "gene"
},
{
"created": "2020-08-20T12:53:28.710318+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnrnpa2b1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HNRNPA2B1",
"entity_type": "gene"
},
{
"created": "2020-08-20T12:53:12.622281+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3846",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HNRNPA2B1 was added\ngene: HNRNPA2B1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: HNRNPA2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HNRNPA2B1 were set to 23455423; 30279180; 29358076; 26744327; 23635965\nPhenotypes for gene: HNRNPA2B1 were set to Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 MIM#615422\nReview for gene: HNRNPA2B1 was set to AMBER\nAdded comment: One family reported that segregates cognitive impairment as part of the phenotype, and extensive functional analysis of protein, including a drosophila model. \nSources: Literature",
"entity_name": "HNRNPA2B1",
"entity_type": "gene"
},
{
"created": "2020-08-20T12:46:01.442938+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3845",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PSMC3 as ready",
"entity_name": "PSMC3",
"entity_type": "gene"
},
{
"created": "2020-08-20T12:46:01.432649+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3845",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psmc3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PSMC3",
"entity_type": "gene"
},
{
"created": "2020-08-20T12:45:53.056561+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3845",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PSMC3 as Amber List (moderate evidence)",
"entity_name": "PSMC3",
"entity_type": "gene"
},
{
"created": "2020-08-20T12:45:53.045068+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3845",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psmc3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PSMC3",
"entity_type": "gene"
},
{
"created": "2020-08-20T12:45:34.462112+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PSMC3 was added\ngene: PSMC3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PSMC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PSMC3 were set to 32500975\nPhenotypes for gene: PSMC3 were set to Deafness; cataract\nReview for gene: PSMC3 was set to AMBER\nAdded comment: Three affected individuals from a single consanguineous family reported with homozygous intronic variant. Animal model. \nSources: Literature",
"entity_name": "PSMC3",
"entity_type": "gene"
},
{
"created": "2020-08-20T12:43:48.546274+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PSMC3 as ready",
"entity_name": "PSMC3",
"entity_type": "gene"
},
{
"created": "2020-08-20T12:43:48.537278+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psmc3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PSMC3",
"entity_type": "gene"
},
{
"created": "2020-08-20T12:43:31.727922+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PSMC3 as Amber List (moderate evidence)",
"entity_name": "PSMC3",
"entity_type": "gene"
},
{
"created": "2020-08-20T12:43:31.719347+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psmc3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PSMC3",
"entity_type": "gene"
},
{
"created": "2020-08-20T12:43:06.575277+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PSMC3 was added\ngene: PSMC3 was added to Cataract. Sources: Literature\nMode of inheritance for gene: PSMC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PSMC3 were set to 32500975\nPhenotypes for gene: PSMC3 were set to Deafness; cataract\nReview for gene: PSMC3 was set to AMBER\nAdded comment: Three affected individuals from a single consanguineous family reported with homozygous intronic variant. Animal model. \nSources: Literature",
"entity_name": "PSMC3",
"entity_type": "gene"
},
{
"created": "2020-08-20T12:41:43.910653+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PSMC3 as ready",
"entity_name": "PSMC3",
"entity_type": "gene"
},
{
"created": "2020-08-20T12:41:43.899082+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psmc3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PSMC3",
"entity_type": "gene"
},
{
"created": "2020-08-20T12:41:35.405204+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PSMC3 as Amber List (moderate evidence)",
"entity_name": "PSMC3",
"entity_type": "gene"
},
{
"created": "2020-08-20T12:41:35.396780+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psmc3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PSMC3",
"entity_type": "gene"
},
{
"created": "2020-08-20T12:26:46.540447+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PSMC3 was added\ngene: PSMC3 was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: PSMC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PSMC3 were set to 32500975\nPhenotypes for gene: PSMC3 were set to Deafness; cataract\nReview for gene: PSMC3 was set to AMBER\nAdded comment: Three affected individuals from a single consanguineous family reported with homozygous intronic variant. Animal model. \nSources: Literature",
"entity_name": "PSMC3",
"entity_type": "gene"
},
{
"created": "2020-08-20T10:02:19.526573+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.63",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: HNRNPA2B1 as ready",
"entity_name": "HNRNPA2B1",
"entity_type": "gene"
},
{
"created": "2020-08-20T10:02:19.503980+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.63",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hnrnpa2b1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HNRNPA2B1",
"entity_type": "gene"
}
]
}