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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1943",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1941",
"results": [
{
"created": "2020-02-04T11:01:54.574199+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1224",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "reviewed gene: GCKR: Rating: RED; Mode of pathogenicity: None; Publications: 31777715; Phenotypes: ; Mode of inheritance: Other",
"entity_name": "GCKR",
"entity_type": "gene"
},
{
"created": "2020-02-04T10:52:30.756631+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CNTN1 as ready",
"entity_name": "CNTN1",
"entity_type": "gene"
},
{
"created": "2020-02-04T10:52:30.745919+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cntn1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CNTN1",
"entity_type": "gene"
},
{
"created": "2020-02-04T10:52:18.280503+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CNTN1 were changed from to Myopathy, congenital, Compton-North 612540",
"entity_name": "CNTN1",
"entity_type": "gene"
},
{
"created": "2020-02-04T10:51:35.705300+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CNTN1 were set to ",
"entity_name": "CNTN1",
"entity_type": "gene"
},
{
"created": "2020-02-04T10:51:16.533800+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CNTN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CNTN1",
"entity_type": "gene"
},
{
"created": "2020-02-04T10:49:25.454924+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CNTN1 as Amber List (moderate evidence)",
"entity_name": "CNTN1",
"entity_type": "gene"
},
{
"created": "2020-02-04T10:49:25.444634+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cntn1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CNTN1",
"entity_type": "gene"
},
{
"created": "2020-02-04T10:47:07.061596+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CNTN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 19026398; Phenotypes: Myopathy, congenital, Compton-North 612540; Mode of inheritance: None",
"entity_name": "CNTN1",
"entity_type": "gene"
},
{
"created": "2020-02-04T10:42:12.241502+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1220",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: OPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30165240; Phenotypes: 1. ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) 6168963, 2. {Glaucoma, normal tension, susceptibility to} 6066573, 3. Behr syndrome 210000 AR, 4. Optic atrophy 1 165500 AD, 5. Optic atrophy plus syndrome 125250 AD; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "OPA1",
"entity_type": "gene"
},
{
"created": "2020-02-04T09:36:05.710763+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1220",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29220674; Phenotypes: ?Dystonia, juvenile-onset 607371, Baraitser-Winter syndrome 1 243310, ACTB-related neurodevelopment disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2020-02-04T09:23:51.105559+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.2",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: SOD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8625408, 21545237, 16503123; Phenotypes: Amyotrophic lateral sclerosis 1 (105400 AD, AR), Spastic tetraplegia and axial hypotonia, progressive (618598 AR); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SOD1",
"entity_type": "gene"
},
{
"created": "2020-02-04T09:14:44.521978+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.11",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29357934; Phenotypes: Acromicric dysplasia (102370), Ectopia lentis, familial (129600), Geleophysic dysplasia 2 (614185), Marfan lipodystrophy syndrome (616914), Marfan syndrome (154700), MASS syndrome (604308), Stiff skin syndrome (184900), Weill-Marchesani syndrome 2, dominant (608328); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2020-02-03T22:37:48.803679+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COA5 as ready",
"entity_name": "COA5",
"entity_type": "gene"
},
{
"created": "2020-02-03T22:37:48.793011+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coa5 has been classified as Red List (Low Evidence).",
"entity_name": "COA5",
"entity_type": "gene"
},
{
"created": "2020-02-03T22:36:46.527181+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFA12 as ready",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2020-02-03T22:36:46.516840+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa12 has been classified as Red List (Low Evidence).",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2020-02-03T22:36:33.611122+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFA12 as ready",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2020-02-03T22:36:33.598704+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa12 has been classified as Red List (Low Evidence).",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2020-02-03T22:36:28.756992+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFA12 were changed from Mitochondrial complex I deficiency, nuclear type 23 618244 to Mitochondrial complex I deficiency, nuclear type 23 618244",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2020-02-03T22:36:00.111362+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFA12 were changed from to Mitochondrial complex I deficiency, nuclear type 23 618244",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2020-02-03T22:35:32.425287+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFA12 were set to 21617257",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2020-02-03T22:35:04.506036+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFA12 were set to ",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2020-02-03T22:22:34.815584+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFA12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2020-02-03T22:22:07.515610+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFA12 as Red List (low evidence)",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2020-02-03T22:22:07.504783+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa12 has been classified as Red List (Low Evidence).",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2020-02-03T22:12:53.977329+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NDUFA12: Rating: RED; Mode of pathogenicity: None; Publications: 21617257; Phenotypes: Mitochondrial complex I deficiency, nuclear type 23 618244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2020-02-03T22:12:21.537497+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFA12 were changed from to Mitochondrial complex I deficiency, nuclear type 23 618244",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2020-02-03T22:11:49.016999+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFA12 were set to ",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2020-02-03T22:11:15.847678+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFA12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2020-02-03T22:10:39.534166+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFA12 as Red List (low evidence)",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2020-02-03T22:10:39.523610+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa12 has been classified as Red List (Low Evidence).",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2020-02-03T22:10:01.090327+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NDUFA12: Rating: RED; Mode of pathogenicity: None; Publications: 21617257; Phenotypes: Mitochondrial complex I deficiency, nuclear type 23 618244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2020-02-03T22:09:27.332269+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFA12 were changed from to Mitochondrial complex I deficiency, nuclear type 23 618244",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2020-02-03T22:09:10.962559+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFA12 were set to ",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2020-02-03T22:08:50.341622+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFA12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2020-02-03T22:08:31.647321+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFA12 as Red List (low evidence)",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2020-02-03T22:08:31.636721+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa12 has been classified as Red List (Low Evidence).",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2020-02-03T22:08:11.623941+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NDUFA12: Rating: RED; Mode of pathogenicity: None; Publications: 21617257; Phenotypes: Mitochondrial complex I deficiency, nuclear type 23 618244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2020-02-03T22:07:19.183930+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFA12 as ready",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2020-02-03T22:07:19.173919+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa12 has been classified as Red List (Low Evidence).",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2020-02-03T22:07:11.282366+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFA12 were changed from to Mitochondrial complex I deficiency, nuclear type 23 618244",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2020-02-03T22:06:37.668597+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFA12 were set to ",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2020-02-03T22:06:07.588013+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFA12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2020-02-03T22:05:33.880734+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFA12 as Red List (low evidence)",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2020-02-03T22:05:33.870222+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa12 has been classified as Red List (Low Evidence).",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2020-02-03T22:04:56.237395+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NDUFA12: Rating: RED; Mode of pathogenicity: None; Publications: 21617257; Phenotypes: Mitochondrial complex I deficiency, nuclear type 23 618244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2020-02-03T22:03:00.564934+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTPAP as ready",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2020-02-03T22:03:00.549794+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtpap has been classified as Green List (High Evidence).",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2020-02-03T22:02:56.795048+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MTPAP were changed from to Spastic ataxia 4, autosomal recessive 613672",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2020-02-03T22:02:25.540657+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MTPAP were set to ",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2020-02-03T22:01:53.047924+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MTPAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2020-02-03T22:01:14.543204+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MTPAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 20970105, 25008111, 26319014, 31779033; Phenotypes: Spastic ataxia 4, autosomal recessive 613672; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2020-02-03T21:55:09.201131+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MRPS7 as ready",
"entity_name": "MRPS7",
"entity_type": "gene"
},
{
"created": "2020-02-03T21:55:09.188551+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrps7 has been classified as Red List (Low Evidence).",
"entity_name": "MRPS7",
"entity_type": "gene"
},
{
"created": "2020-02-03T21:54:57.512174+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MRPS7 were changed from to Combined oxidative phosphorylation deficiency 34, MIM# 617872",
"entity_name": "MRPS7",
"entity_type": "gene"
},
{
"created": "2020-02-03T21:54:40.895570+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MRPS7 as ready",
"entity_name": "MRPS7",
"entity_type": "gene"
},
{
"created": "2020-02-03T21:54:40.885289+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrps7 has been classified as Red List (Low Evidence).",
"entity_name": "MRPS7",
"entity_type": "gene"
},
{
"created": "2020-02-03T21:54:35.293712+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MRPS7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MRPS7",
"entity_type": "gene"
},
{
"created": "2020-02-03T21:53:45.271993+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MRPS7 were set to ",
"entity_name": "MRPS7",
"entity_type": "gene"
},
{
"created": "2020-02-03T21:53:26.552991+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MRPS7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MRPS7",
"entity_type": "gene"
},
{
"created": "2020-02-03T21:53:05.645526+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MRPS7 as Red List (low evidence)",
"entity_name": "MRPS7",
"entity_type": "gene"
},
{
"created": "2020-02-03T21:53:05.635414+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrps7 has been classified as Red List (Low Evidence).",
"entity_name": "MRPS7",
"entity_type": "gene"
},
{
"created": "2020-02-03T21:52:21.636421+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MRPS7: Rating: RED; Mode of pathogenicity: None; Publications: 25556185; Phenotypes: Combined oxidative phosphorylation deficiency 34, MIM# 617872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MRPS7",
"entity_type": "gene"
},
{
"created": "2020-02-03T21:52:18.148536+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MRPS7 were changed from to Combined oxidative phosphorylation deficiency 34, MIM# 617872",
"entity_name": "MRPS7",
"entity_type": "gene"
},
{
"created": "2020-02-03T21:51:44.612046+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MRPS7 were set to ",
"entity_name": "MRPS7",
"entity_type": "gene"
},
{
"created": "2020-02-03T21:51:13.205918+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MRPS7 as Red List (low evidence)",
"entity_name": "MRPS7",
"entity_type": "gene"
},
{
"created": "2020-02-03T21:51:13.195621+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrps7 has been classified as Red List (Low Evidence).",
"entity_name": "MRPS7",
"entity_type": "gene"
},
{
"created": "2020-02-03T21:50:18.440135+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MRPS23 as ready",
"entity_name": "MRPS23",
"entity_type": "gene"
},
{
"created": "2020-02-03T21:50:18.429502+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrps23 has been classified as Red List (Low Evidence).",
"entity_name": "MRPS23",
"entity_type": "gene"
},
{
"created": "2020-02-03T21:50:10.448763+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MRPS7: Rating: RED; Mode of pathogenicity: None; Publications: 25556185; Phenotypes: Combined oxidative phosphorylation deficiency 34, MIM# 617872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MRPS7",
"entity_type": "gene"
},
{
"created": "2020-02-03T21:47:25.021440+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MRPS23 were changed from to Hepatic disease; Combined respiratory chain complex deficiencies",
"entity_name": "MRPS23",
"entity_type": "gene"
},
{
"created": "2020-02-03T21:47:08.194381+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MRPS23 were set to ",
"entity_name": "MRPS23",
"entity_type": "gene"
},
{
"created": "2020-02-03T21:46:43.268853+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MRPS23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MRPS23",
"entity_type": "gene"
},
{
"created": "2020-02-03T21:46:22.580636+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MRPS23 as ready",
"entity_name": "MRPS23",
"entity_type": "gene"
},
{
"created": "2020-02-03T21:46:22.569179+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrps23 has been classified as Red List (Low Evidence).",
"entity_name": "MRPS23",
"entity_type": "gene"
},
{
"created": "2020-02-03T21:46:22.224822+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MRPS23 as Red List (low evidence)",
"entity_name": "MRPS23",
"entity_type": "gene"
},
{
"created": "2020-02-03T21:46:22.214517+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrps23 has been classified as Red List (Low Evidence).",
"entity_name": "MRPS23",
"entity_type": "gene"
},
{
"created": "2020-02-03T21:45:56.978612+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MRPS23: Rating: RED; Mode of pathogenicity: None; Publications: 26741492; Phenotypes: Hepatic disease, Combined respiratory chain complex deficiencies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MRPS23",
"entity_type": "gene"
},
{
"created": "2020-02-03T21:45:09.587025+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MRPS23 were changed from to Hepatic disease; Combined respiratory chain complex deficiencies",
"entity_name": "MRPS23",
"entity_type": "gene"
},
{
"created": "2020-02-03T21:44:39.041123+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MRPS23 were set to ",
"entity_name": "MRPS23",
"entity_type": "gene"
},
{
"created": "2020-02-03T20:40:52.302173+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.309",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-03T20:15:06.068793+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MRPS23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MRPS23",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:27:09.588764+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MRPS23 as Red List (low evidence)",
"entity_name": "MRPS23",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:27:09.578471+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrps23 has been classified as Red List (Low Evidence).",
"entity_name": "MRPS23",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:26:32.468155+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MRPS23: Rating: RED; Mode of pathogenicity: None; Publications: 26741492; Phenotypes: Hepatic disease, Combined respiratory chain complex deficiencies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MRPS23",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:23:48.477205+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MRPL12 as ready",
"entity_name": "MRPL12",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:23:48.462699+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrpl12 has been classified as Red List (Low Evidence).",
"entity_name": "MRPL12",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:23:35.204482+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MRPL12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MRPL12",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:23:08.970473+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MRPL12 were set to ",
"entity_name": "MRPL12",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:22:37.065103+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MRPL12 were changed from to Growth retardation; neurological deterioration; mitochondrial translation deficiency",
"entity_name": "MRPL12",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:21:02.252773+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MRPL12 as Red List (low evidence)",
"entity_name": "MRPL12",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:21:02.241439+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrpl12 has been classified as Red List (Low Evidence).",
"entity_name": "MRPL12",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:20:34.206150+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MRPL12 as ready",
"entity_name": "MRPL12",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:20:34.195555+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrpl12 has been classified as Red List (Low Evidence).",
"entity_name": "MRPL12",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:20:20.035231+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MRPL12 were changed from to Growth retardation; neurological deterioration; mitochondrial translation deficiency",
"entity_name": "MRPL12",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:19:50.383564+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MRPL12 were set to ",
"entity_name": "MRPL12",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:19:42.104382+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MRPL12: Rating: RED; Mode of pathogenicity: None; Publications: 23603806; Phenotypes: Growth retardation, neurological deterioration, mitochondrial translation deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MRPL12",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:19:14.512815+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MRPL12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MRPL12",
"entity_type": "gene"
},
{
"created": "2020-02-03T19:17:58.412541+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MRPL12 as Red List (low evidence)",
"entity_name": "MRPL12",
"entity_type": "gene"
}
]
}