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{
"count": 220497,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=98",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=96",
"results": [
{
"created": "2025-12-07T17:51:36.722112+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdhx has been classified as Green List (High Evidence).",
"entity_name": "PDHX",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:51:32.848893+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDHX were changed from Lacticacidaemia due to PDX1 deficiency MIM#245349 to Lactic acidaemia due to PDX1 deficiency MIM#245349",
"entity_name": "PDHX",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:50:59.993399+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDHX were changed from to Lacticacidaemia due to PDX1 deficiency MIM#245349",
"entity_name": "PDHX",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:50:26.333846+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDHX were set to ",
"entity_name": "PDHX",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:49:55.529482+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDHX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDHX",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:49:15.268502+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDHB as ready",
"entity_name": "PDHB",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:49:15.261513+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdhb has been classified as Green List (High Evidence).",
"entity_name": "PDHB",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:49:11.975796+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDHB were changed from to Pyruvate dehydrogenase E1-beta deficiency - MIM#614111",
"entity_name": "PDHB",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:48:37.415449+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDHB",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:45:12.405385+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OPA1 were changed from Behr syndrome, 210000; Optic atrophy plus syndrome, 125250; Optic atrophy 1, 165500 to OPA1-related optic atrophy with or without extraocular features, MONDO:0800181",
"entity_name": "OPA1",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:44:03.165727+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OPA1 were changed from Optic atrophy plus syndrome, MIM# 125250 to OPA1-related optic atrophy with or without extraocular features, MONDO:0800181",
"entity_name": "OPA1",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:43:37.025046+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: OPA1: Changed phenotypes: OPA1-related optic atrophy with or without extraocular features, MONDO:0800181",
"entity_name": "OPA1",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:43:19.433991+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OPA1 were changed from Optic atrophy 1 165500; Optic atrophy plus syndrome, MIM# 125250; Behr syndrome, MIM# 210000 to OPA1-related optic atrophy with or without extraocular features, MONDO:0800181",
"entity_name": "OPA1",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:42:26.651221+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3744",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OPA1 were changed from Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)MIM# 616896; Behr syndrome MIM#210000, AR; Optic atrophy 1, MIM#165500; Optic atrophy plus syndrome, MIM# 125250 to OPA1-related optic atrophy with or without extraocular features, MONDO:0800181",
"entity_name": "OPA1",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:41:42.697137+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OPA1 were set to 30165240",
"entity_name": "OPA1",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:41:39.744716+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OPA1 were set to ",
"entity_name": "OPA1",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:41:39.688230+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.60",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene OPA1 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-07T17:40:59.454437+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3743",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene OPA1 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-07T17:40:46.563664+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.301",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene OPA1 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-07T17:40:11.181294+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.154",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene OPA1 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-07T17:38:29.873399+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: OPA1-related optic atrophy with or without extraocular features, MONDO:0800181; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "OPA1",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:36:04.709886+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OPA1 as ready",
"entity_name": "OPA1",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:36:04.694141+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: opa1 has been classified as Green List (High Evidence).",
"entity_name": "OPA1",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:35:58.813179+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OPA1 were changed from to OPA1-related optic atrophy with or without extraocular features, MONDO:0800181",
"entity_name": "OPA1",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:34:37.653368+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OPA1 were set to ",
"entity_name": "OPA1",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:34:02.936388+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OPA1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "OPA1",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:33:13.403764+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFV1 as ready",
"entity_name": "NDUFV1",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:33:13.394081+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufv1 has been classified as Green List (High Evidence).",
"entity_name": "NDUFV1",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:30:32.177881+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFV1 were changed from to Mitochondrial complex I deficiency, nuclear type 4 MIM#618225",
"entity_name": "NDUFV1",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:30:04.777407+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFV1 were set to ",
"entity_name": "NDUFV1",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:29:36.558109+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFV1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFV1",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:28:59.584238+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFS8 as ready",
"entity_name": "NDUFS8",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:28:59.573554+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufs8 has been classified as Green List (High Evidence).",
"entity_name": "NDUFS8",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:28:56.886504+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFS8 were changed from to Mitochondrial complex I deficiency, nuclear type 2 MIM#618222",
"entity_name": "NDUFS8",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:28:15.894607+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFS8 were set to ",
"entity_name": "NDUFS8",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:27:39.752606+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFS8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS8",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:27:03.993108+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFS7 as ready",
"entity_name": "NDUFS7",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:27:03.978875+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufs7 has been classified as Green List (High Evidence).",
"entity_name": "NDUFS7",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:27:01.037568+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFS7 were changed from to Mitochondrial complex I deficiency, nuclear type 3 (MIM# 618224)",
"entity_name": "NDUFS7",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:26:25.098162+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFS7 were set to ",
"entity_name": "NDUFS7",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:25:51.218677+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFS7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS7",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:25:08.522827+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFAF5 as ready",
"entity_name": "NDUFAF5",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:25:08.512384+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufaf5 has been classified as Green List (High Evidence).",
"entity_name": "NDUFAF5",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:25:05.657477+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFAF5 were changed from to Mitochondrial complex I deficiency, nuclear type 3 MIM#618224",
"entity_name": "NDUFAF5",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:24:32.209970+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFAF5 were set to ",
"entity_name": "NDUFAF5",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:24:01.004309+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFAF5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFAF5",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:23:15.222710+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFA1 as ready",
"entity_name": "NDUFA1",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:23:15.212708+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa1 has been classified as Green List (High Evidence).",
"entity_name": "NDUFA1",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:23:12.620148+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFA1 were changed from to Mitochondrial complex I deficiency, nuclear type 12 MIM#301020",
"entity_name": "NDUFA1",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:22:35.880061+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFA1 were set to ",
"entity_name": "NDUFA1",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:22:01.336297+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NDUFA1",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:20:59.768313+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MPV17 as ready",
"entity_name": "MPV17",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:20:59.760731+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpv17 has been classified as Green List (High Evidence).",
"entity_name": "MPV17",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:20:42.871555+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MPV17 were changed from to Charcot-Marie-Tooth disease, axonal, type 2EE, MIM# 618400",
"entity_name": "MPV17",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:20:08.910109+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MPV17 were set to ",
"entity_name": "MPV17",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:19:35.215508+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MPV17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MPV17",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:18:54.573266+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MFN2 as ready",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:18:54.562621+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mfn2 has been classified as Green List (High Evidence).",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:18:44.628464+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MFN2 were changed from to Charcot-Marie-Tooth disease, axonal, type 2A2A 609260; Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 617087; Hereditary motor and sensory neuropathy VIA, MIM# 601152",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:17:55.856361+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MFN2 were set to ",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:17:06.537343+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MFN2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:15:08.021551+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TAZ as ready",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:15:08.011673+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: taz has been classified as Green List (High Evidence).",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:15:04.458286+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TAZ were changed from to Barth syndrome, MIM# 302060",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:09:54.631656+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TAZ was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:09:02.801432+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MFF as ready",
"entity_name": "MFF",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:09:02.791324+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mff has been classified as Green List (High Evidence).",
"entity_name": "MFF",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:08:59.185891+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MFF were changed from to Encephalopathy due to defective mitochondrial and peroxisomal fission 2, MIM# 617086",
"entity_name": "MFF",
"entity_type": "gene"
},
{
"created": "2025-12-07T17:08:26.438386+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MFF were set to ",
"entity_name": "MFF",
"entity_type": "gene"
},
{
"created": "2025-12-07T16:47:05.081786+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MFF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MFF",
"entity_type": "gene"
},
{
"created": "2025-12-07T16:38:10.927878+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MDH2 as ready",
"entity_name": "MDH2",
"entity_type": "gene"
},
{
"created": "2025-12-07T16:38:10.920906+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mdh2 has been classified as Green List (High Evidence).",
"entity_name": "MDH2",
"entity_type": "gene"
},
{
"created": "2025-12-07T16:37:01.995952+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MDH2 were changed from to Developmental and epileptic encephalopathy 51 MIM#617339",
"entity_name": "MDH2",
"entity_type": "gene"
},
{
"created": "2025-12-07T16:36:12.921406+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MDH2 were set to ",
"entity_name": "MDH2",
"entity_type": "gene"
},
{
"created": "2025-12-07T16:35:43.746750+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MDH2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MDH2",
"entity_type": "gene"
},
{
"created": "2025-12-07T16:35:08.219886+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LYRM7 as ready",
"entity_name": "LYRM7",
"entity_type": "gene"
},
{
"created": "2025-12-07T16:35:08.212603+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lyrm7 has been classified as Green List (High Evidence).",
"entity_name": "LYRM7",
"entity_type": "gene"
},
{
"created": "2025-12-07T16:35:05.487231+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LYRM7 were changed from to Mitochondrial complex III deficiency, nuclear type 8 - MIM#615838",
"entity_name": "LYRM7",
"entity_type": "gene"
},
{
"created": "2025-12-07T16:34:29.408573+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LYRM7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LYRM7",
"entity_type": "gene"
},
{
"created": "2025-12-07T13:11:37.555682+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3742",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene PPM1K from panel Aminoacidopathy",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-07T13:11:24.083027+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.487",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene PPM1K from panel Aminoacidopathy",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-07T13:09:56.012319+11:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PPM1K: Added comment: Additional individual reported in PMID 40047138 noted. However, variant is homozygous missense and thus a VOUS.; Changed rating: AMBER; Changed publications: 23086801, 40047138",
"entity_name": "PPM1K",
"entity_type": "gene"
},
{
"created": "2025-12-07T13:06:02.662019+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37390-Loss as ready",
"entity_name": "ISCA-37390-Loss",
"entity_type": "region"
},
{
"created": "2025-12-07T13:06:02.655449+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37390-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37390-Loss",
"entity_type": "region"
},
{
"created": "2025-12-07T13:05:45.973028+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37390-Loss as ready",
"entity_name": "ISCA-37390-Loss",
"entity_type": "region"
},
{
"created": "2025-12-07T13:05:45.965783+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37390-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37390-Loss",
"entity_type": "region"
},
{
"created": "2025-12-07T13:05:28.741562+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37392-Gain as ready",
"entity_name": "ISCA-37392-Gain",
"entity_type": "region"
},
{
"created": "2025-12-07T13:05:28.732475+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37392-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37392-Gain",
"entity_type": "region"
},
{
"created": "2025-12-07T13:05:11.329244+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.509",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37392-Loss as ready",
"entity_name": "ISCA-37392-Loss",
"entity_type": "region"
},
{
"created": "2025-12-07T13:05:11.320141+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.509",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37392-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37392-Loss",
"entity_type": "region"
},
{
"created": "2025-12-07T13:04:56.942441+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37392-Loss as ready",
"entity_name": "ISCA-37392-Loss",
"entity_type": "region"
},
{
"created": "2025-12-07T13:04:56.936072+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37392-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37392-Loss",
"entity_type": "region"
},
{
"created": "2025-12-07T13:04:35.291518+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37392-Loss as ready",
"entity_name": "ISCA-37392-Loss",
"entity_type": "region"
},
{
"created": "2025-12-07T13:04:35.283932+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37392-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37392-Loss",
"entity_type": "region"
},
{
"created": "2025-12-07T13:04:17.402889+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37393-Gain as ready",
"entity_name": "ISCA-37393-Gain",
"entity_type": "region"
},
{
"created": "2025-12-07T13:04:17.382241+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37393-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37393-Gain",
"entity_type": "region"
},
{
"created": "2025-12-07T13:03:59.211851+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37393-Gain as ready",
"entity_name": "ISCA-37393-Gain",
"entity_type": "region"
},
{
"created": "2025-12-07T13:03:59.201349+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37393-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37393-Gain",
"entity_type": "region"
},
{
"created": "2025-12-07T13:03:40.383954+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.509",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37393-Gain as ready",
"entity_name": "ISCA-37393-Gain",
"entity_type": "region"
},
{
"created": "2025-12-07T13:03:40.375644+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.509",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37393-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37393-Gain",
"entity_type": "region"
}
]
}