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{
"count": 220324,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1456",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1454",
"results": [
{
"created": "2020-12-31T08:48:19.094134+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a20 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2020-12-31T08:48:15.913654+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC25A20 were changed from to Carnitine-acylcarnitine translocase deficiency, MIM# 212138",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2020-12-31T08:47:48.637027+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC25A20 were set to ",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2020-12-31T08:47:15.600640+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC25A20 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2020-12-31T08:46:45.176307+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC25A20: Rating: GREEN; Mode of pathogenicity: None; Publications: 15363639, 15365988, 24088670; Phenotypes: Carnitine-acylcarnitine translocase deficiency, MIM# 212138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2020-12-31T08:39:17.129855+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TAZ: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Barth syndrome, MIM# 302060; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2020-12-30T16:57:21.618163+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SETX as ready",
"entity_name": "SETX",
"entity_type": "gene"
},
{
"created": "2020-12-30T16:57:21.610449+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: setx has been classified as Green List (High Evidence).",
"entity_name": "SETX",
"entity_type": "gene"
},
{
"created": "2020-12-30T16:57:17.799253+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SETX were changed from dHMN/dSMA; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 to dHMN/dSMA; Amyotrophic lateral sclerosis 4, juvenile MIM# 602433; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2",
"entity_name": "SETX",
"entity_type": "gene"
},
{
"created": "2020-12-30T16:56:58.946273+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SETX were set to ",
"entity_name": "SETX",
"entity_type": "gene"
},
{
"created": "2020-12-30T16:56:39.299389+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SETX was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SETX",
"entity_type": "gene"
},
{
"created": "2020-12-30T16:56:24.028208+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SETX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Amyotrophic lateral sclerosis 4, juvenile MIM# 602433, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 MIM# 606002; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SETX",
"entity_type": "gene"
},
{
"created": "2020-12-30T16:26:32.666716+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.94",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: SETX: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23129421, 16644229, 30052327; Phenotypes: Amyotrophic lateral sclerosis 4, juvenile MIM# 602433, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 MIM# 606002; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SETX",
"entity_type": "gene"
},
{
"created": "2020-12-30T12:50:35.258623+11:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-12-30T12:49:58.514313+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5879",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GABRD as ready",
"entity_name": "GABRD",
"entity_type": "gene"
},
{
"created": "2020-12-30T12:49:58.503228+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5879",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabrd has been classified as Red List (Low Evidence).",
"entity_name": "GABRD",
"entity_type": "gene"
},
{
"created": "2020-12-30T12:49:17.162039+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5879",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GABRD were changed from to Susceptibility to epilepsy, MIM#613060",
"entity_name": "GABRD",
"entity_type": "gene"
},
{
"created": "2020-12-30T12:48:59.526942+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5878",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GABRD were set to ",
"entity_name": "GABRD",
"entity_type": "gene"
},
{
"created": "2020-12-30T12:48:33.288207+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5877",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GABRD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GABRD",
"entity_type": "gene"
},
{
"created": "2020-12-30T12:48:12.512701+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GABRD as Red List (low evidence)",
"entity_name": "GABRD",
"entity_type": "gene"
},
{
"created": "2020-12-30T12:48:12.504751+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabrd has been classified as Red List (Low Evidence).",
"entity_name": "GABRD",
"entity_type": "gene"
},
{
"created": "2020-12-30T12:47:51.035070+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5875",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GABRD: Rating: RED; Mode of pathogenicity: None; Publications: 15115768; Phenotypes: Susceptibility to epilepsy, MIM#613060; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GABRD",
"entity_type": "gene"
},
{
"created": "2020-12-30T12:46:51.662610+11:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GABRD as ready",
"entity_name": "GABRD",
"entity_type": "gene"
},
{
"created": "2020-12-30T12:46:51.652202+11:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabrd has been classified as Red List (Low Evidence).",
"entity_name": "GABRD",
"entity_type": "gene"
},
{
"created": "2020-12-30T12:46:29.050400+11:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GABRD were changed from to Susceptibility to epilepsy, MIM#613060",
"entity_name": "GABRD",
"entity_type": "gene"
},
{
"created": "2020-12-30T12:45:58.749493+11:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GABRD were set to ",
"entity_name": "GABRD",
"entity_type": "gene"
},
{
"created": "2020-12-30T12:45:30.615304+11:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GABRD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GABRD",
"entity_type": "gene"
},
{
"created": "2020-12-30T12:43:26.813471+11:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GABRD as Red List (low evidence)",
"entity_name": "GABRD",
"entity_type": "gene"
},
{
"created": "2020-12-30T12:43:26.805755+11:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabrd has been classified as Red List (Low Evidence).",
"entity_name": "GABRD",
"entity_type": "gene"
},
{
"created": "2020-12-30T12:42:57.986284+11:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GABRD: Rating: RED; Mode of pathogenicity: None; Publications: 15115768; Phenotypes: Susceptibility to epilepsy, MIM#613060; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GABRD",
"entity_type": "gene"
},
{
"created": "2020-12-30T12:37:05.677917+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-12-30T12:35:56.216308+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5875",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPR as ready",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2020-12-30T12:35:56.209021+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5875",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spr has been classified as Green List (High Evidence).",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2020-12-30T12:35:38.509129+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5875",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPR were changed from to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2020-12-30T12:34:52.424341+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5874",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPR were set to ",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2020-12-30T12:34:30.441797+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5873",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SPR: Changed publications: 22522443, 16650784, 21431957, 28189489",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2020-12-30T12:33:56.588989+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5873",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2020-12-30T12:33:06.552633+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPR as ready",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2020-12-30T12:33:06.536514+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spr has been classified as Green List (High Evidence).",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2020-12-30T12:33:02.882221+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPR were changed from to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2020-12-30T12:32:14.377424+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPR were set to ",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2020-12-30T12:31:38.286306+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2020-12-30T12:31:06.314171+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPR: Rating: GREEN; Mode of pathogenicity: None; Publications: 22522443, 16650784, 21431957, 28189489; Phenotypes: Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2020-12-30T12:28:01.340534+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC6A5 as ready",
"entity_name": "SLC6A5",
"entity_type": "gene"
},
{
"created": "2020-12-30T12:28:01.327620+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc6a5 has been classified as Green List (High Evidence).",
"entity_name": "SLC6A5",
"entity_type": "gene"
},
{
"created": "2020-12-30T12:26:39.362234+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC6A5 were changed from to Hyperekplexia 3, MIM# 614618",
"entity_name": "SLC6A5",
"entity_type": "gene"
},
{
"created": "2020-12-30T12:26:05.991205+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC6A5 were set to ",
"entity_name": "SLC6A5",
"entity_type": "gene"
},
{
"created": "2020-12-30T12:25:23.880086+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC6A5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC6A5",
"entity_type": "gene"
},
{
"created": "2020-12-30T12:24:49.834444+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC6A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 31604777, 30847549, 29859229, 16751771; Phenotypes: Hyperekplexia 3, MIM# 614618; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC6A5",
"entity_type": "gene"
},
{
"created": "2020-12-30T10:45:04.826884+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC2A1: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2020-12-30T10:44:16.324092+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC2A1 as ready",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2020-12-30T10:44:16.315391+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc2a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2020-12-30T10:44:08.733479+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC2A1 were changed from to GLUT1-deficiency syndrome, MONDO:0000188; Dystonia 9 601042; GLUT1 deficiency syndrome 1, infantile onset, severe 606777; GLUT1 deficiency syndrome 2, childhood onset 612126; Stomatin-deficient cryohydrocytosis with neurologic defects 608885",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2020-12-30T10:43:38.214282+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC2A1 were set to ",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2020-12-30T10:43:06.050246+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC2A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2020-12-30T10:42:31.515552+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32913944; Phenotypes: GLUT1-deficiency syndrome, MONDO:0000188, Dystonia 9 601042, GLUT1 deficiency syndrome 1, infantile onset, severe 606777, GLUT1 deficiency syndrome 2, childhood onset 612126, Stomatin-deficient cryohydrocytosis with neurologic defects 608885; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2020-12-30T09:16:58.693491+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP7B as ready",
"entity_name": "ATP7B",
"entity_type": "gene"
},
{
"created": "2020-12-30T09:16:58.680376+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp7b has been classified as Green List (High Evidence).",
"entity_name": "ATP7B",
"entity_type": "gene"
},
{
"created": "2020-12-30T09:16:55.820626+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP7B were changed from to Wilson disease, MIM# 277900",
"entity_name": "ATP7B",
"entity_type": "gene"
},
{
"created": "2020-12-30T09:16:29.889577+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP7B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP7B",
"entity_type": "gene"
},
{
"created": "2020-12-30T09:15:57.529863+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP7B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wilson disease, MIM# 277900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP7B",
"entity_type": "gene"
},
{
"created": "2020-12-30T09:14:01.444948+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN1A as ready",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2020-12-30T09:14:01.423597+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn1a has been classified as Green List (High Evidence).",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2020-12-30T09:13:58.324423+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCN1A were changed from to Dravet syndrome 607208; Epilepsy, generalized, with febrile seizures plus, type 2 604403; Febrile seizures, familial, 3A 604403; Migraine, familial hemiplegic, 3 609634",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2020-12-30T09:13:24.095694+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCN1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2020-12-30T09:12:53.032633+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SCN1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dravet syndrome 607208, Epilepsy, generalized, with febrile seizures plus, type 2 604403, Febrile seizures, familial, 3A 604403, Migraine, familial hemiplegic, 3 609634; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2020-12-30T09:10:53.815771+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CACNB4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CACNB4",
"entity_type": "gene"
},
{
"created": "2020-12-30T09:09:32.633119+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRRT2 as ready",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2020-12-30T09:09:32.622916+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prrt2 has been classified as Green List (High Evidence).",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2020-12-30T09:09:11.010125+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRRT2 were changed from to Convulsions, familial infantile, with paroxysmal choreoathetosis 602066; Episodic kinesigenic dyskinesia 1 128200; Seizures, benign familial infantile, 2 605751",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2020-12-30T09:08:48.437911+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRRT2 were set to ",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2020-12-30T09:08:24.508168+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRRT2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2020-12-30T09:08:03.901761+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRRT2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2020-12-30T09:07:33.119866+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRRT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33126500; Phenotypes: Convulsions, familial infantile, with paroxysmal choreoathetosis 602066, Episodic kinesigenic dyskinesia 1 128200, Seizures, benign familial infantile, 2 605751; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2020-12-30T09:06:45.778747+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5872",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRRT2 as ready",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2020-12-30T09:06:45.770280+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5872",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prrt2 has been classified as Green List (High Evidence).",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2020-12-30T09:06:35.384471+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5872",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRRT2 were changed from to Convulsions, familial infantile, with paroxysmal choreoathetosis 602066; Episodic kinesigenic dyskinesia 1 128200; Seizures, benign familial infantile, 2 605751",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2020-12-30T09:06:22.284727+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRRT2 were set to ",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2020-12-30T09:05:54.262868+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PRRT2: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2020-12-30T09:05:42.856239+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRRT2 as ready",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2020-12-30T09:05:42.846063+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prrt2 has been classified as Green List (High Evidence).",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2020-12-30T09:05:41.666825+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRRT2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2020-12-30T09:05:39.037226+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRRT2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2020-12-30T09:05:05.157611+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5869",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PRRT2: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2020-12-30T09:04:51.722304+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5869",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRRT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33126500; Phenotypes: Convulsions, familial infantile, with paroxysmal choreoathetosis 602066, Episodic kinesigenic dyskinesia 1 128200, Seizures, benign familial infantile, 2 605751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2020-12-30T09:04:44.759912+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRRT2 were changed from to Convulsions, familial infantile, with paroxysmal choreoathetosis 602066; Episodic kinesigenic dyskinesia 1 128200; Seizures, benign familial infantile, 2 605751",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2020-12-30T09:04:14.855637+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRRT2 were set to ",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2020-12-30T09:03:42.574199+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRRT2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2020-12-30T09:03:01.040705+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRRT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33126500; Phenotypes: Convulsions, familial infantile, with paroxysmal choreoathetosis 602066, Episodic kinesigenic dyskinesia 1 128200, Seizures, benign familial infantile, 2 605751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:57:36.301140+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PNKD as ready",
"entity_name": "PNKD",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:57:36.289891+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnkd has been classified as Green List (High Evidence).",
"entity_name": "PNKD",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:57:32.723101+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PNKD were changed from to Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800",
"entity_name": "PNKD",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:56:57.827185+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PNKD were set to ",
"entity_name": "PNKD",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:56:21.317696+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PNKD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PNKD",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:55:47.897898+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PNKD: Rating: GREEN; Mode of pathogenicity: None; Publications: 15496428; Phenotypes: Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PNKD",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:48:53.788891+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNQ3 as ready",
"entity_name": "KCNQ3",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:48:53.778314+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnq3 has been classified as Green List (High Evidence).",
"entity_name": "KCNQ3",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:48:34.890917+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNQ3 were changed from to Seizures, benign neonatal, 2, MIM# 121201",
"entity_name": "KCNQ3",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:48:11.213116+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNQ3 were set to ",
"entity_name": "KCNQ3",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:47:41.892557+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNQ3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNQ3",
"entity_type": "gene"
}
]
}