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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1892",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1890",
"results": [
{
"created": "2020-03-30T07:37:00.439465+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.25",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID 29300372, 30924982, 24714796, 30623132; Phenotypes: Cardiomyopathy, dilated, 1S 613426, Cardiomyopathy, hypertrophic, 1 192600, Laing distal myopathy 160500, Left ventricular noncompaction 5 613426, Myopathy, myosin storage, autosomal dominant 608358, Myopathy, myosin storage, autosomal recessive 255160, Scapuloperoneal syndrome, myopathic type 181430; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2020-03-30T07:32:19.612171+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1842",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: DLG3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID 28777483; Phenotypes: Mental retardation, X-linked 90; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "DLG3",
"entity_type": "gene"
},
{
"created": "2020-03-30T07:27:28.517304+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1842",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID 19473076, 11068201; Phenotypes: Contractural arachnodactyly, congenital 121050, Macular degeneration, early-onset 616118; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "FBN2",
"entity_type": "gene"
},
{
"created": "2020-03-29T14:22:14.703886+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.25",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: ADGRG6: Rating: GREEN; Mode of pathogenicity: None; Publications: 26004201; Phenotypes: Lethal congenital contracture syndrome 9 (MIM#616503); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADGRG6",
"entity_type": "gene"
},
{
"created": "2020-03-28T17:38:33.743432+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "LAS1L",
"entity_type": "gene"
},
{
"created": "2020-03-28T17:37:52.605569+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "IGHMBP2",
"entity_type": "gene"
},
{
"created": "2020-03-28T17:37:11.666779+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "EXOSC8",
"entity_type": "gene"
},
{
"created": "2020-03-28T17:33:30.121418+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "DCTN1",
"entity_type": "gene"
},
{
"created": "2020-03-28T17:17:13.245448+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CCNF as Green List (high evidence)",
"entity_name": "CCNF",
"entity_type": "gene"
},
{
"created": "2020-03-28T17:17:13.232399+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ccnf has been classified as Green List (High Evidence).",
"entity_name": "CCNF",
"entity_type": "gene"
},
{
"created": "2020-03-28T17:16:41.601098+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CCNF was added\ngene: CCNF was added to Incidentalome. Sources: Expert list\nMode of inheritance for gene: CCNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CCNF were set to 27080313; 31577344\nPhenotypes for gene: CCNF were set to amyotrophic lateral sclerosis with/without frontotemporal dementia\nReview for gene: CCNF was set to GREEN\nAdded comment: >3 families/cases and supporting functional evidence \nSources: Expert list",
"entity_name": "CCNF",
"entity_type": "gene"
},
{
"created": "2020-03-28T16:53:04.254794+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CCNF as ready",
"entity_name": "CCNF",
"entity_type": "gene"
},
{
"created": "2020-03-28T16:53:04.245069+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ccnf has been classified as Green List (High Evidence).",
"entity_name": "CCNF",
"entity_type": "gene"
},
{
"created": "2020-03-28T16:52:57.468644+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CCNF as Green List (high evidence)",
"entity_name": "CCNF",
"entity_type": "gene"
},
{
"created": "2020-03-28T16:52:57.455450+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ccnf has been classified as Green List (High Evidence).",
"entity_name": "CCNF",
"entity_type": "gene"
},
{
"created": "2020-03-28T16:51:20.594046+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.43",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CCNF was added\ngene: CCNF was added to Early-onset Dementia. Sources: Expert list\nMode of inheritance for gene: CCNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CCNF were set to 27080313\nPhenotypes for gene: CCNF were set to amyotrophic lateral sclerosis with/without frontotemporal dementia\nReview for gene: CCNF was set to GREEN\nAdded comment: Four cases, within three families with FTD with/without ALS. \nSources: Expert list",
"entity_name": "CCNF",
"entity_type": "gene"
},
{
"created": "2020-03-28T16:22:01.364386+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CCNF as ready",
"entity_name": "CCNF",
"entity_type": "gene"
},
{
"created": "2020-03-28T16:22:01.355679+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ccnf has been classified as Green List (High Evidence).",
"entity_name": "CCNF",
"entity_type": "gene"
},
{
"created": "2020-03-28T16:21:48.357059+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CCNF as Green List (high evidence)",
"entity_name": "CCNF",
"entity_type": "gene"
},
{
"created": "2020-03-28T16:21:48.348285+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ccnf has been classified as Green List (High Evidence).",
"entity_name": "CCNF",
"entity_type": "gene"
},
{
"created": "2020-03-28T16:16:25.745704+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CCNF was added\ngene: CCNF was added to Motor Neuron Disease. Sources: Expert list\nMode of inheritance for gene: CCNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CCNF were set to 29102476; 31577344; 27080313; 28105640; 31445393; 28852778\nPhenotypes for gene: CCNF were set to amyotrophic lateral sclerosis with/without frontotemporal dementia\nReview for gene: CCNF was set to GREEN\nAdded comment: >3 cases/families and supporting functional evidence \nSources: Expert list",
"entity_name": "CCNF",
"entity_type": "gene"
},
{
"created": "2020-03-28T15:06:02.453860+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ANXA11 as Green List (high evidence)",
"entity_name": "ANXA11",
"entity_type": "gene"
},
{
"created": "2020-03-28T15:06:02.444793+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: anxa11 has been classified as Green List (High Evidence).",
"entity_name": "ANXA11",
"entity_type": "gene"
},
{
"created": "2020-03-28T15:05:04.838697+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "ASCC1",
"entity_type": "gene"
},
{
"created": "2020-03-28T15:04:24.672319+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ANXA11 was added\ngene: ANXA11 was added to Incidentalome. Sources: Expert list\nMode of inheritance for gene: ANXA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ANXA11 were set to 28469040; 29845112; 30109997\nPhenotypes for gene: ANXA11 were set to Amytrophic lateral sclerosis 23 MIM#617839\nReview for gene: ANXA11 was set to GREEN\nAdded comment: 4 different missense variants in 10 patients from 7 unrelated families with amyotrophic lateral sclerosis and functional assays supporting association. \nSources: Expert list",
"entity_name": "ANXA11",
"entity_type": "gene"
},
{
"created": "2020-03-28T14:35:46.640860+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ANXA11 as Green List (high evidence)",
"entity_name": "ANXA11",
"entity_type": "gene"
},
{
"created": "2020-03-28T14:35:46.627253+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: anxa11 has been classified as Green List (High Evidence).",
"entity_name": "ANXA11",
"entity_type": "gene"
},
{
"created": "2020-03-28T14:29:07.014578+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.27",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel name changed from Early onset Parkinson disease to Early-onset Parkinson disease\nPanel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Royal Melbourne Hospital",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-03-28T14:21:39.091979+11:00",
"panel_name": "Early onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: VPS13C as ready",
"entity_name": "VPS13C",
"entity_type": "gene"
},
{
"created": "2020-03-28T14:21:39.078844+11:00",
"panel_name": "Early onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: vps13c has been classified as Green List (High Evidence).",
"entity_name": "VPS13C",
"entity_type": "gene"
},
{
"created": "2020-03-28T14:21:34.821033+11:00",
"panel_name": "Early onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: VPS13C as Green List (high evidence)",
"entity_name": "VPS13C",
"entity_type": "gene"
},
{
"created": "2020-03-28T14:21:34.811407+11:00",
"panel_name": "Early onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: vps13c has been classified as Green List (High Evidence).",
"entity_name": "VPS13C",
"entity_type": "gene"
},
{
"created": "2020-03-28T14:20:45.831062+11:00",
"panel_name": "Early onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: VPS13C was added\ngene: VPS13C was added to Early onset Parkinson disease. Sources: Expert list\nMode of inheritance for gene: VPS13C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VPS13C were set to 26942284; 30452786; 28862745\nPhenotypes for gene: VPS13C were set to Parkinson disease 23, autosomal recessive, early onset MIM#616840\nReview for gene: VPS13C was set to GREEN\nAdded comment: >3 cases with biallelic variants. \nSources: Expert list",
"entity_name": "VPS13C",
"entity_type": "gene"
},
{
"created": "2020-03-28T14:05:19.462297+11:00",
"panel_name": "Early onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: TWNK was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2020-03-28T14:04:49.681589+11:00",
"panel_name": "Early onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TWNK as ready",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2020-03-28T14:04:49.668020+11:00",
"panel_name": "Early onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: twnk has been classified as Green List (High Evidence).",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2020-03-28T14:04:12.783527+11:00",
"panel_name": "Early onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: None; Publications: 24076137, 22949510, 22580846, 19353676; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MIM#609286; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2020-03-28T09:17:43.346126+11:00",
"panel_name": "Lymphoedema_syndromic",
"panel_id": 3098,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHD7 as ready",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2020-03-28T09:17:43.337591+11:00",
"panel_name": "Lymphoedema_syndromic",
"panel_id": 3098,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd7 has been classified as Red List (Low Evidence).",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2020-03-28T09:17:38.968964+11:00",
"panel_name": "Lymphoedema_syndromic",
"panel_id": 3098,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHD7 as Red List (low evidence)",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2020-03-28T09:17:38.945451+11:00",
"panel_name": "Lymphoedema_syndromic",
"panel_id": 3098,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd7 has been classified as Red List (Low Evidence).",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2020-03-28T09:17:29.176222+11:00",
"panel_name": "Lymphoedema_syndromic",
"panel_id": 3098,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHD7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: CHARGE syndrome, MIM# 214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2020-03-27T09:07:06.875071+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2490",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: NAA15: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31127942; Phenotypes: Mental retardation, autosomal dominant 50, 617787 (3), NAA15-related syndrome (PMID: 31127942); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "NAA15",
"entity_type": "gene"
},
{
"created": "2020-03-27T08:39:35.456940+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2490",
"user_name": "Sue White",
"item_type": "entity",
"text": "Classified gene: NR2F2 as Amber List (moderate evidence)",
"entity_name": "NR2F2",
"entity_type": "gene"
},
{
"created": "2020-03-27T08:39:35.448620+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2490",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: nr2f2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NR2F2",
"entity_type": "gene"
},
{
"created": "2020-03-27T08:38:32.660883+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2489",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: NR2F2 was added\ngene: NR2F2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: NR2F2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NR2F2 were set to 29478779; 29663647\nPhenotypes for gene: NR2F2 were set to mild intellectual disability; congenital heart disease; disorder of sexual differentiation; dysmorphic features\nPenetrance for gene: NR2F2 were set to Complete\nReview for gene: NR2F2 was set to AMBER\nAdded comment: Established gene for congenital heart disease and DSD and emerging gene for ID. 2 unrelated individuals published with mild or borderline ID, dysmorphism and de novo truncating/missense variants. \nSources: Literature",
"entity_name": "NR2F2",
"entity_type": "gene"
},
{
"created": "2020-03-26T21:09:59.402473+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF2AK2 as ready",
"entity_name": "EIF2AK2",
"entity_type": "gene"
},
{
"created": "2020-03-26T21:09:59.393780+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2ak2 has been classified as Green List (High Evidence).",
"entity_name": "EIF2AK2",
"entity_type": "gene"
},
{
"created": "2020-03-26T21:09:55.733161+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EIF2AK2 as Green List (high evidence)",
"entity_name": "EIF2AK2",
"entity_type": "gene"
},
{
"created": "2020-03-26T21:09:55.723487+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2ak2 has been classified as Green List (High Evidence).",
"entity_name": "EIF2AK2",
"entity_type": "gene"
},
{
"created": "2020-03-26T21:09:26.870551+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EIF2AK2 was added\ngene: EIF2AK2 was added to Regression. Sources: Literature\nMode of inheritance for gene: EIF2AK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EIF2AK2 were set to 32197074\nPhenotypes for gene: EIF2AK2 were set to Intellectual disability; white matter abnormalities; ataxia; regression with febrile illness\nReview for gene: EIF2AK2 was set to GREEN\nAdded comment: Eight individuals with de novo variants and complex neurodevelopmental phenotype. \nSources: Literature",
"entity_name": "EIF2AK2",
"entity_type": "gene"
},
{
"created": "2020-03-26T21:08:15.133095+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-03-26T21:07:22.447069+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1842",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF2AK2 as ready",
"entity_name": "EIF2AK2",
"entity_type": "gene"
},
{
"created": "2020-03-26T21:07:22.437932+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1842",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2ak2 has been classified as Green List (High Evidence).",
"entity_name": "EIF2AK2",
"entity_type": "gene"
},
{
"created": "2020-03-26T21:07:12.927969+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1842",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EIF2AK2 as Green List (high evidence)",
"entity_name": "EIF2AK2",
"entity_type": "gene"
},
{
"created": "2020-03-26T21:07:12.914377+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1842",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2ak2 has been classified as Green List (High Evidence).",
"entity_name": "EIF2AK2",
"entity_type": "gene"
},
{
"created": "2020-03-26T21:06:54.661264+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1841",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EIF2AK2 was added\ngene: EIF2AK2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: EIF2AK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EIF2AK2 were set to 32197074\nPhenotypes for gene: EIF2AK2 were set to Intellectual disability; white matter abnormalities; ataxia; regression with febrile illness\nReview for gene: EIF2AK2 was set to GREEN\nAdded comment: Eight individuals with de novo variants and complex neurodevelopmental phenotype. \nSources: Literature",
"entity_name": "EIF2AK2",
"entity_type": "gene"
},
{
"created": "2020-03-26T21:06:26.543830+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EIF2AK2 as Green List (high evidence)",
"entity_name": "EIF2AK2",
"entity_type": "gene"
},
{
"created": "2020-03-26T21:06:26.530696+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2ak2 has been classified as Green List (High Evidence).",
"entity_name": "EIF2AK2",
"entity_type": "gene"
},
{
"created": "2020-03-26T21:05:27.643504+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EIF2AK2 was added\ngene: EIF2AK2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: EIF2AK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EIF2AK2 were set to 32197074\nPhenotypes for gene: EIF2AK2 were set to Intellectual disability; white matter abnormalities; ataxia; regression with febrile illness\nReview for gene: EIF2AK2 was set to GREEN\nAdded comment: Eight individuals with de novo variants and complex neurodevelopmental phenotype. \nSources: Literature",
"entity_name": "EIF2AK2",
"entity_type": "gene"
},
{
"created": "2020-03-26T21:03:16.448993+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1840",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF2AK1 as ready",
"entity_name": "EIF2AK1",
"entity_type": "gene"
},
{
"created": "2020-03-26T21:03:16.435083+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1840",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2ak1 has been classified as Red List (Low Evidence).",
"entity_name": "EIF2AK1",
"entity_type": "gene"
},
{
"created": "2020-03-26T21:02:59.153706+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1840",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EIF2AK1 was added\ngene: EIF2AK1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: EIF2AK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EIF2AK1 were set to 32197074\nPhenotypes for gene: EIF2AK1 were set to Intellectual disability; white matter abnormalities\nReview for gene: EIF2AK1 was set to RED\nAdded comment: Single individual reported with de novo variant in this gene. \nSources: Literature",
"entity_name": "EIF2AK1",
"entity_type": "gene"
},
{
"created": "2020-03-26T21:01:54.092927+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF2AK1 as ready",
"entity_name": "EIF2AK1",
"entity_type": "gene"
},
{
"created": "2020-03-26T21:01:54.084290+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2ak1 has been classified as Red List (Low Evidence).",
"entity_name": "EIF2AK1",
"entity_type": "gene"
},
{
"created": "2020-03-26T21:01:46.006194+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EIF2AK1 was added\ngene: EIF2AK1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: EIF2AK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EIF2AK1 were set to 32197074\nPhenotypes for gene: EIF2AK1 were set to Intellectual disability; white matter abnormalities\nReview for gene: EIF2AK1 was set to RED\nAdded comment: Single individual reported with de novo variant in this gene. \nSources: Literature",
"entity_name": "EIF2AK1",
"entity_type": "gene"
},
{
"created": "2020-03-26T20:58:06.186988+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NOVA2 as ready",
"entity_name": "NOVA2",
"entity_type": "gene"
},
{
"created": "2020-03-26T20:58:06.173600+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nova2 has been classified as Green List (High Evidence).",
"entity_name": "NOVA2",
"entity_type": "gene"
},
{
"created": "2020-03-26T20:57:50.288284+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NOVA2 as Green List (high evidence)",
"entity_name": "NOVA2",
"entity_type": "gene"
},
{
"created": "2020-03-26T20:57:50.279928+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nova2 has been classified as Green List (High Evidence).",
"entity_name": "NOVA2",
"entity_type": "gene"
},
{
"created": "2020-03-26T20:57:31.629883+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1838",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NOVA2 was added\ngene: NOVA2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NOVA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NOVA2 were set to 32197073\nPhenotypes for gene: NOVA2 were set to Intellectual disability; autism; hypotonia; spasticity; ataxia\nMode of pathogenicity for gene: NOVA2 was set to Other\nReview for gene: NOVA2 was set to GREEN\nAdded comment: Six individuals with de novo frameshift variants resulting in C-terminal extension suggesting partial LoF as mechanism. \nSources: Literature",
"entity_name": "NOVA2",
"entity_type": "gene"
},
{
"created": "2020-03-26T20:57:14.340411+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NOVA2 as ready",
"entity_name": "NOVA2",
"entity_type": "gene"
},
{
"created": "2020-03-26T20:57:14.327241+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nova2 has been classified as Green List (High Evidence).",
"entity_name": "NOVA2",
"entity_type": "gene"
},
{
"created": "2020-03-26T20:56:37.731024+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NOVA2 as Green List (high evidence)",
"entity_name": "NOVA2",
"entity_type": "gene"
},
{
"created": "2020-03-26T20:56:37.721186+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nova2 has been classified as Green List (High Evidence).",
"entity_name": "NOVA2",
"entity_type": "gene"
},
{
"created": "2020-03-26T20:55:49.980585+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NOVA2 was added\ngene: NOVA2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: NOVA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NOVA2 were set to 32197073\nPhenotypes for gene: NOVA2 were set to Intellectual disability; autism; hypotonia; spasticity; ataxia\nMode of pathogenicity for gene: NOVA2 was set to Other\nReview for gene: NOVA2 was set to GREEN\nAdded comment: Six individuals with de novo frameshift variants resulting in C-terminal extension suggesting partial LoF as mechanism. \nSources: Literature",
"entity_name": "NOVA2",
"entity_type": "gene"
},
{
"created": "2020-03-26T19:50:01.743257+11:00",
"panel_name": "Early onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: PTS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PTS",
"entity_type": "gene"
},
{
"created": "2020-03-26T19:50:00.833140+11:00",
"panel_name": "Early onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PTS as ready",
"entity_name": "PTS",
"entity_type": "gene"
},
{
"created": "2020-03-26T19:50:00.819767+11:00",
"panel_name": "Early onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pts has been classified as Green List (High Evidence).",
"entity_name": "PTS",
"entity_type": "gene"
},
{
"created": "2020-03-26T19:49:27.060935+11:00",
"panel_name": "Early onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: PTS: Rating: GREEN; Mode of pathogenicity: None; Publications: 11388593, 27562098; Phenotypes: Hyperphenylalaninemia, BH4-deficient, A MIM#261640; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PTS",
"entity_type": "gene"
},
{
"created": "2020-03-26T16:08:23.067503+11:00",
"panel_name": "Early onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PTRHD1 as ready",
"entity_name": "PTRHD1",
"entity_type": "gene"
},
{
"created": "2020-03-26T16:08:23.058947+11:00",
"panel_name": "Early onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ptrhd1 has been classified as Green List (High Evidence).",
"entity_name": "PTRHD1",
"entity_type": "gene"
},
{
"created": "2020-03-26T16:07:50.204176+11:00",
"panel_name": "Early onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PTRHD1 as Green List (high evidence)",
"entity_name": "PTRHD1",
"entity_type": "gene"
},
{
"created": "2020-03-26T16:07:50.195342+11:00",
"panel_name": "Early onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ptrhd1 has been classified as Green List (High Evidence).",
"entity_name": "PTRHD1",
"entity_type": "gene"
},
{
"created": "2020-03-26T16:07:20.118206+11:00",
"panel_name": "Early onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PTRHD1 was added\ngene: PTRHD1 was added to Early onset Parkinson disease. Sources: Expert list\nMode of inheritance for gene: PTRHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PTRHD1 were set to 27753167; 27134041; 30398675; 29143421\nPhenotypes for gene: PTRHD1 were set to early-onset parkinsonism; intellectual disability\nReview for gene: PTRHD1 was set to GREEN\nAdded comment: Homozygous variants segregate in three unrelated families from Iran and South Africa. No functional assays conducted. \nSources: Expert list",
"entity_name": "PTRHD1",
"entity_type": "gene"
},
{
"created": "2020-03-26T14:30:11.343792+11:00",
"panel_name": "Early onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: KIF5A as ready",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2020-03-26T14:30:11.334713+11:00",
"panel_name": "Early onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: kif5a has been classified as Amber List (Moderate Evidence).",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2020-03-26T14:30:07.775869+11:00",
"panel_name": "Early onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: KIF5A as Amber List (moderate evidence)",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2020-03-26T14:30:07.763001+11:00",
"panel_name": "Early onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: kif5a has been classified as Amber List (Moderate Evidence).",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2020-03-26T14:29:37.289059+11:00",
"panel_name": "Early onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: KIF5A: Rating: AMBER; Mode of pathogenicity: None; Publications: 18853458; Phenotypes: Spastic paraplegia 10, autosomal dominant MIM#604187; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2020-03-26T14:19:41.307954+11:00",
"panel_name": "Early onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: C9orf72 as Red List (low evidence)",
"entity_name": "C9orf72",
"entity_type": "gene"
},
{
"created": "2020-03-26T14:19:41.303913+11:00",
"panel_name": "Early onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: A repeat expansion is the cause of disease for this gene, which is currently not detectable by NGS.",
"entity_name": "C9orf72",
"entity_type": "gene"
},
{
"created": "2020-03-26T14:19:41.284021+11:00",
"panel_name": "Early onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: c9orf72 has been classified as Red List (Low Evidence).",
"entity_name": "C9orf72",
"entity_type": "gene"
},
{
"created": "2020-03-26T14:19:00.406998+11:00",
"panel_name": "Early onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: A repeat expansion is the cause of disease for this gene, which is currently not detectable by NGS.; to: Parkinsonism is a common feature of the condition. A repeat expansion is the cause of disease for this gene.",
"entity_name": "C9orf72",
"entity_type": "gene"
},
{
"created": "2020-03-26T14:17:52.911520+11:00",
"panel_name": "Early onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: A repeat expansion is the cause of disease for this gene, which is currently not detectable by NGS.; to: Comment on list classification: A repeat expansion is the cause of disease for this gene, which is currently not detectable by NGS.",
"entity_name": "C9orf72",
"entity_type": "gene"
},
{
"created": "2020-03-26T14:17:33.281315+11:00",
"panel_name": "Early onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: C9orf72: Changed rating: GREEN; Changed publications: 31779815; Changed phenotypes: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "C9orf72",
"entity_type": "gene"
},
{
"created": "2020-03-26T14:15:08.040095+11:00",
"panel_name": "Early onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: HTT as ready",
"entity_name": "HTT",
"entity_type": "gene"
},
{
"created": "2020-03-26T14:15:08.030645+11:00",
"panel_name": "Early onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: htt has been classified as Red List (Low Evidence).",
"entity_name": "HTT",
"entity_type": "gene"
},
{
"created": "2020-03-26T14:15:05.412960+11:00",
"panel_name": "Early onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HTT as Red List (low evidence)",
"entity_name": "HTT",
"entity_type": "gene"
},
{
"created": "2020-03-26T14:15:05.408833+11:00",
"panel_name": "Early onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Parkinsonism is a feature of Huntingtons. This repeat expansion is not detectable by current NGS technology.",
"entity_name": "HTT",
"entity_type": "gene"
}
]
}