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{
"count": 220790,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1600",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1598",
"results": [
{
"created": "2020-09-10T14:47:14.245184+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ubr4 has been classified as Red List (Low Evidence).",
"entity_name": "UBR4",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:46:47.514227+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Four unrelated individuals reported with missense variants in this gene and episodic ataxia. However, no segregation or functional data to support gene-disease association, and some of the variants are present at a low frequency in population databases.; to: Four unrelated individuals reported with missense variants in this gene and episodic ataxia. However, no segregation or functional data to support gene-disease association, and some of the variants are present at a low frequency in population databases. Variants in other putative ataxia genes present in some of the individuals.",
"entity_name": "UBR4",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:45:34.784534+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UBR4: Rating: RED; Mode of pathogenicity: None; Publications: 23982692, 29062094; Phenotypes: Episodic ataxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "UBR4",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:41:09.396350+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBC1D24 as ready",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:41:09.387356+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbc1d24 has been classified as Green List (High Evidence).",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:41:02.951752+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBC1D24 were changed from Episodic dystonia (Exercise induced or without clear trigger); epilepsy; myoclonus; hearing loss to Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp, MIM# 608105; Episodic dystonia (Exercise induced or without clear trigger); epilepsy; myoclonus; hearing loss",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:40:25.919956+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBC1D24 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:39:57.053270+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBC1D24: Rating: GREEN; Mode of pathogenicity: None; Publications: 31257402; Phenotypes: Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp, MIM# 608105; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:36:55.828308+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TBC1D24 as Green List (high evidence)",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:36:55.819640+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbc1d24 has been classified as Green List (High Evidence).",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:35:42.775711+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HIBCH as ready",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:35:42.765039+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hibch has been classified as Green List (High Evidence).",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:35:40.037130+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HIBCH were changed from Paroxysmal dyskinesia (exercise induced or without clear trigger; isolated or with additional features; mitochondrial disorder (Leigh syndrome); neurodevelopmental disability; epilepsy. to 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620; Paroxysmal dyskinesia (exercise induced or without clear trigger; isolated or with additional features; mitochondrial disorder (Leigh syndrome); neurodevelopmental disability; epilepsy.",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:35:19.667214+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HIBCH as Green List (high evidence)",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:35:19.656341+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hibch has been classified as Green List (High Evidence).",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:34:50.732880+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HIBCH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:33:38.355918+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC20A2 as ready",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:33:38.347618+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc20a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:33:36.261698+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC20A2 were changed from to Basal ganglia calcification, idiopathic, 1, MIM# 213600",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:33:13.295291+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC20A2 were set to ",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:32:44.863609+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC20A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:32:21.782201+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC20A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22327515, 23334463; Phenotypes: Basal ganglia calcification, idiopathic, 1, MIM# 213600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:31:37.944918+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC20A2 as ready",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:31:37.935604+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc20a2 has been classified as Red List (Low Evidence).",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:31:27.953522+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC20A2 were changed from to Basal ganglia calcification, idiopathic, 1, MIM# 213600",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:31:02.389378+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC20A2 were set to ",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:30:38.400617+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC20A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:30:20.610312+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC20A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:29:59.322385+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC20A2 as Red List (low evidence)",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:29:59.313269+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc20a2 has been classified as Red List (Low Evidence).",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:29:35.543407+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC20A2: Rating: RED; Mode of pathogenicity: None; Publications: 22327515, 23334463; Phenotypes: Basal ganglia calcification, idiopathic, 1, MIM# 213600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:27:49.726678+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC20A2 as ready",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:27:49.714326+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc20a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:27:43.510103+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC20A2 were changed from to Basal ganglia calcification, idiopathic, 1, MIM# 213600",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:27:27.247534+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC20A2 were set to ",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:26:54.705873+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC20A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:26:39.252956+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC20A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22327515, 23334463; Phenotypes: Basal ganglia calcification, idiopathic, 1, MIM# 213600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:25:33.707582+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC20A2 as ready",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:25:33.698311+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc20a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:25:31.562528+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC20A2 were changed from to Basal ganglia calcification, idiopathic, 1, MIM# 213600",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:25:10.166902+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC20A2 were set to ",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:24:44.427467+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC20A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:24:21.105815+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC20A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22327515, 23334463; Phenotypes: Basal ganglia calcification, idiopathic, 1, MIM# 213600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:23:08.026307+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC20A2 as ready",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:23:08.013709+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc20a2 has been classified as Red List (Low Evidence).",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:23:04.620346+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC20A2 were changed from Paroxysmal kinesigenic dyskinesia; Basal ganglia calcification to Basal ganglia calcification, idiopathic, 1, MIM# 213600; Paroxysmal kinesigenic dyskinesia",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:22:22.260175+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC20A2 were set to PMID 24411498",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:22:03.403376+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC20A2 as Red List (low evidence)",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:22:03.392805+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc20a2 has been classified as Red List (Low Evidence).",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:21:34.166285+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC20A2: Rating: RED; Mode of pathogenicity: None; Publications: 22327515, 23334463, 24411498; Phenotypes: Basal ganglia calcification, idiopathic, 1, MIM# 213600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:17:07.920750+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC16A2 as ready",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:17:07.906264+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc16a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:17:05.591072+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC16A2 were set to ",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:16:54.146682+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC16A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15980113, 31410843, 20301789; Phenotypes: Allan-Herndon-Dudley syndrome, MIM# 300523; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:16:01.711179+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC16A2 as ready",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:16:01.689431+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc16a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:15:59.724981+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC16A2 were changed from General Leukodystrophy & Mitochondrial Leukoencephalopathy; Allan-Herndon-Dudley syndrome; Monocarboxylate transporter 8 deficiency (MCT8); Hypomyelinating Leukodystrophy & Pelizaeus-Merzbacher Disease to Allan-Herndon-Dudley syndrome, MIM# 300523; Hypomyelination",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:15:31.443950+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC16A2 were set to ",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:15:23.311601+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC16A2 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:15:10.554264+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC16A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15980113, 31410843, 20301789; Phenotypes: Allan-Herndon-Dudley syndrome, MIM# 300523; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:14:15.934380+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Allan-Herndon-Dudley syndrome (AHDS) is an X-linked condition characterized by severely impaired intellectual development, dysarthria, athetoid movements, muscle hypoplasia, and spastic paraplegia. There is large phenotypic interfamilial and intrafamilial variability. Paroxysmal dystonic dyskinesia triggered by passive movements, excitement, crying reported. \nSources: Expert Review; to: Allan-Herndon-Dudley syndrome (AHDS) is an X-linked condition characterized by severely impaired intellectual development, dysarthria, athetoid movements, muscle hypoplasia, and spastic paraplegia. There is large phenotypic interfamilial and intrafamilial variability. In a recent review of 24 affected individuals (PMID 31410843), 16 presented with profound developmental delay, three had severe intellectual disability with poor language and walking with an aid, four had moderate intellectual disability with language and walking abilities, and one had mild intellectual disability with hypotonia. Overall, eight had learned to walk, all had hypotonia, 17 had spasticity, 18 had dystonia, 12 had choreoathetosis, 19 had hypomyelination, and 10 had brain atrophy. Kyphoscoliosis (n=12), seizures (n=7), and pneumopathies (n=5) were the most severe complications. Paroxysmal dystonic dyskinesia triggered by passive movements, excitement, crying is reported. \r\nSources: Expert Review",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:13:12.233589+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2982",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Allan-Herndon-Dudley syndrome (AHDS) is an X-linked condition characterized by severely impaired intellectual development, dysarthria, athetoid movements, muscle hypoplasia, and spastic paraplegia. There is large phenotypic interfamilial and intrafamilial variability.; to: Allan-Herndon-Dudley syndrome (AHDS) is an X-linked condition characterized by severely impaired intellectual development, dysarthria, athetoid movements, muscle hypoplasia, and spastic paraplegia. There is large phenotypic interfamilial and intrafamilial variability. In a recent review of 24 affected individuals (PMID 31410843), 16 presented with profound developmental delay, three had severe intellectual disability with poor language and walking with an aid, four had moderate intellectual disability with language and walking abilities, and one had mild intellectual disability with hypotonia. Overall, eight had learned to walk, all had hypotonia, 17 had spasticity, 18 had dystonia, 12 had choreoathetosis, 19 had hypomyelination, and 10 had brain atrophy. Kyphoscoliosis (n=12), seizures (n=7), and pneumopathies (n=5) were the most severe complications.",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:12:39.733318+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC16A2 as ready",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:12:39.719207+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc16a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:12:37.048374+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC16A2 were changed from to Allan-Herndon-Dudley syndrome, MIM# 300523",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:12:10.270022+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC16A2 were set to ",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:11:42.220113+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.849",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC16A2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:11:18.408707+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC16A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15980113, 31410843, 20301789; Phenotypes: Allan-Herndon-Dudley syndrome, MIM# 300523; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:10:14.561431+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC16A2 as ready",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:10:14.550992+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc16a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:10:07.819928+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC16A2 were changed from to Allan-Herndon-Dudley syndrome, MIM# 300523",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:09:44.734737+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC16A2 were set to ",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:09:27.973483+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC16A2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:09:10.184674+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC16A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15980113, 31410843, 20301789; Phenotypes: Allan-Herndon-Dudley syndrome, MIM# 300523; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:06:09.993686+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC16A2 as ready",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:06:09.984304+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc16a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:06:05.778341+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC16A2 as Green List (high evidence)",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:06:05.768789+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc16a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:05:58.277489+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC16A2 was added\ngene: SLC16A2 was added to Dystonia - complex. Sources: Expert Review\nMode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: SLC16A2 were set to 15980113; 31410843; 20301789\nPhenotypes for gene: SLC16A2 were set to Allan-Herndon-Dudley syndrome, MIM# 300523\nReview for gene: SLC16A2 was set to GREEN\nAdded comment: Allan-Herndon-Dudley syndrome (AHDS) is an X-linked condition characterized by severely impaired intellectual development, dysarthria, athetoid movements, muscle hypoplasia, and spastic paraplegia. There is large phenotypic interfamilial and intrafamilial variability. Paroxysmal dystonic dyskinesia triggered by passive movements, excitement, crying reported. \nSources: Expert Review",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:01:45.612614+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAMTSL4 as ready",
"entity_name": "ADAMTSL4",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:01:45.602012+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adamtsl4 has been classified as Red List (Low Evidence).",
"entity_name": "ADAMTSL4",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:00:54.533002+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:TRIP13 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-09-10T13:51:33.662381+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: TRIP13.",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2020-09-10T13:51:18.811403+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRIP13 were changed from to Mosaic variegated aneuploidy syndrome 3, MIM# 617598; Oocyte maturation defect 9, MIM# 619011",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2020-09-10T13:51:03.977474+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRIP13 were set to ",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2020-09-10T13:50:42.488387+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRIP13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2020-09-10T13:50:26.219725+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRIP13: Rating: GREEN; Mode of pathogenicity: None; Publications: 28553959, 32473092; Phenotypes: Mosaic variegated aneuploidy syndrome 3, MIM# 617598, Oocyte maturation defect 9, MIM# 619011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2020-09-10T13:47:05.531023+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: TRIP13.",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2020-09-10T13:46:38.712631+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: TRIP13.",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2020-09-10T13:46:30.323330+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRIP13 as Amber List (moderate evidence)",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2020-09-10T13:46:30.314595+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trip13 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2020-09-10T13:46:06.610088+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Predisposition to Wilms tumour, six unrelated individuals reported.; to: Predisposition to Wilms tumour, six unrelated individuals reported. Note 5/6 families had the same variant, suggestive of founder effect.",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2020-09-10T13:45:49.049534+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TRIP13: Changed rating: AMBER",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2020-09-10T12:54:55.967821+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.136",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ADAMTSL4 was added\ngene: ADAMTSL4 was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: ADAMTSL4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAMTSL4 were set to 22871183; 20702823\nPhenotypes for gene: ADAMTSL4 were set to Ectopia lentis et pupillae\tMIM#225200\nReview for gene: ADAMTSL4 was set to RED\nAdded comment: Two cases with craniosynostosis and the same 20 bp deletion have been repeated, but cases with the same variant in the same family have been reported with ectopia lentis only. \nSources: Literature",
"entity_name": "ADAMTSL4",
"entity_type": "gene"
},
{
"created": "2020-09-10T11:33:37.312851+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4289",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: Cannot find any link to any disease at all. This is a pseudogene. It may have been included because its previous gene symbol is TRAP1; to: Cannot find any link to any disease at all. There is no OMIM entry for this pseudogene. It may have been included because its previous gene symbol is TRAP1. ",
"entity_name": "HSP90B2P",
"entity_type": "gene"
},
{
"created": "2020-09-10T11:32:51.329853+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4289",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: HSP90B2P as ready",
"entity_name": "HSP90B2P",
"entity_type": "gene"
},
{
"created": "2020-09-10T11:32:51.317135+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4289",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hsp90b2p has been classified as Red List (Low Evidence).",
"entity_name": "HSP90B2P",
"entity_type": "gene"
},
{
"created": "2020-09-10T11:32:42.313827+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4289",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HSP90B2P as Red List (low evidence)",
"entity_name": "HSP90B2P",
"entity_type": "gene"
},
{
"created": "2020-09-10T11:32:42.305902+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4289",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hsp90b2p has been classified as Red List (Low Evidence).",
"entity_name": "HSP90B2P",
"entity_type": "gene"
},
{
"created": "2020-09-10T11:32:23.318106+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4288",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: HSP90B2P: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown",
"entity_name": "HSP90B2P",
"entity_type": "gene"
}
]
}