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{
"count": 220497,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=100",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=98",
"results": [
{
"created": "2025-12-05T18:24:04.174605+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ETHE1 were changed from to Ethylmalonic encephalopathy , MIM#602473",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2025-12-05T18:23:29.769098+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ETHE1 were set to ",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2025-12-05T18:22:55.346678+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ETHE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2025-12-05T18:22:15.163210+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNM1L as ready",
"entity_name": "DNM1L",
"entity_type": "gene"
},
{
"created": "2025-12-05T18:22:15.156120+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnm1l has been classified as Green List (High Evidence).",
"entity_name": "DNM1L",
"entity_type": "gene"
},
{
"created": "2025-12-05T18:21:34.454299+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAJC19 as ready",
"entity_name": "DNAJC19",
"entity_type": "gene"
},
{
"created": "2025-12-05T18:21:34.444174+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnajc19 has been classified as Green List (High Evidence).",
"entity_name": "DNAJC19",
"entity_type": "gene"
},
{
"created": "2025-12-05T18:21:28.839582+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNAJC19 were changed from to 3-methylglutaconic aciduria, type V MIM#610198",
"entity_name": "DNAJC19",
"entity_type": "gene"
},
{
"created": "2025-12-05T18:20:59.832428+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNAJC19 were set to ",
"entity_name": "DNAJC19",
"entity_type": "gene"
},
{
"created": "2025-12-05T18:20:19.607105+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNAJC19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAJC19",
"entity_type": "gene"
},
{
"created": "2025-12-05T18:18:44.277394+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNA2 as ready",
"entity_name": "DNA2",
"entity_type": "gene"
},
{
"created": "2025-12-05T18:18:44.266741+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dna2 has been classified as Green List (High Evidence).",
"entity_name": "DNA2",
"entity_type": "gene"
},
{
"created": "2025-12-05T18:18:38.889184+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNA2 were changed from to Seckel syndrome 8, MIM#615807; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 MIM#615156",
"entity_name": "DNA2",
"entity_type": "gene"
},
{
"created": "2025-12-05T18:18:07.220762+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNA2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DNA2",
"entity_type": "gene"
},
{
"created": "2025-12-05T18:17:47.483961+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNA2 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DNA2",
"entity_type": "gene"
},
{
"created": "2025-12-05T18:17:21.895815+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "DNA2",
"entity_type": "gene"
},
{
"created": "2025-12-05T18:16:57.811298+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNA2 were set to ",
"entity_name": "DNA2",
"entity_type": "gene"
},
{
"created": "2025-12-05T18:16:11.436845+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DLD as ready",
"entity_name": "DLD",
"entity_type": "gene"
},
{
"created": "2025-12-05T18:16:11.429641+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dld has been classified as Green List (High Evidence).",
"entity_name": "DLD",
"entity_type": "gene"
},
{
"created": "2025-12-05T18:16:05.772257+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DLD were changed from to Dihydrolipoamide dehydrogenase deficiency MIM#246900",
"entity_name": "DLD",
"entity_type": "gene"
},
{
"created": "2025-12-05T18:15:37.567855+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DLD were set to ",
"entity_name": "DLD",
"entity_type": "gene"
},
{
"created": "2025-12-05T18:15:07.793982+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DLD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DLD",
"entity_type": "gene"
},
{
"created": "2025-12-05T18:14:32.836980+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DLAT as ready",
"entity_name": "DLAT",
"entity_type": "gene"
},
{
"created": "2025-12-05T18:14:32.827313+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dlat has been classified as Green List (High Evidence).",
"entity_name": "DLAT",
"entity_type": "gene"
},
{
"created": "2025-12-05T18:14:29.891750+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DLAT were changed from to Pyruvate dehydrogenase E2 deficiency MIM#245348",
"entity_name": "DLAT",
"entity_type": "gene"
},
{
"created": "2025-12-05T18:14:01.176636+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DLAT were set to ",
"entity_name": "DLAT",
"entity_type": "gene"
},
{
"created": "2025-12-05T18:13:33.168828+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DLAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DLAT",
"entity_type": "gene"
},
{
"created": "2025-12-05T18:12:49.435204+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DGUOK as ready",
"entity_name": "DGUOK",
"entity_type": "gene"
},
{
"created": "2025-12-05T18:12:49.424881+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dguok has been classified as Green List (High Evidence).",
"entity_name": "DGUOK",
"entity_type": "gene"
},
{
"created": "2025-12-05T18:12:35.397919+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DARS2 as ready",
"entity_name": "DARS2",
"entity_type": "gene"
},
{
"created": "2025-12-05T18:12:35.386841+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dars2 has been classified as Green List (High Evidence).",
"entity_name": "DARS2",
"entity_type": "gene"
},
{
"created": "2025-12-05T18:12:32.116910+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DARS2 were changed from to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105",
"entity_name": "DARS2",
"entity_type": "gene"
},
{
"created": "2025-12-05T18:11:57.319685+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DARS2 were set to ",
"entity_name": "DARS2",
"entity_type": "gene"
},
{
"created": "2025-12-05T18:11:27.889683+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DARS2",
"entity_type": "gene"
},
{
"created": "2025-12-05T17:40:13.096721+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYC1 as ready",
"entity_name": "CYC1",
"entity_type": "gene"
},
{
"created": "2025-12-05T17:40:13.087486+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyc1 has been classified as Green List (High Evidence).",
"entity_name": "CYC1",
"entity_type": "gene"
},
{
"created": "2025-12-05T17:40:08.856635+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CYC1 were changed from to Mitochondrial complex III deficiency, nuclear type 6 MIM#615453",
"entity_name": "CYC1",
"entity_type": "gene"
},
{
"created": "2025-12-05T17:39:27.046759+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CYC1 were set to ",
"entity_name": "CYC1",
"entity_type": "gene"
},
{
"created": "2025-12-05T17:38:58.386765+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CYC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYC1",
"entity_type": "gene"
},
{
"created": "2025-12-05T17:38:12.443023+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COX7B as ready",
"entity_name": "COX7B",
"entity_type": "gene"
},
{
"created": "2025-12-05T17:38:12.435799+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox7b has been classified as Green List (High Evidence).",
"entity_name": "COX7B",
"entity_type": "gene"
},
{
"created": "2025-12-05T17:38:09.894215+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COX7B were changed from to Linear skin defects with multiple congenital anomalies 2, MIM#300887",
"entity_name": "COX7B",
"entity_type": "gene"
},
{
"created": "2025-12-05T17:37:33.011736+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COX7B were set to ",
"entity_name": "COX7B",
"entity_type": "gene"
},
{
"created": "2025-12-05T17:37:00.289128+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COX7B was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "COX7B",
"entity_type": "gene"
},
{
"created": "2025-12-05T17:36:13.183956+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COQ9 as ready",
"entity_name": "COQ9",
"entity_type": "gene"
},
{
"created": "2025-12-05T17:36:13.176056+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coq9 has been classified as Green List (High Evidence).",
"entity_name": "COQ9",
"entity_type": "gene"
},
{
"created": "2025-12-05T17:36:10.482115+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COQ9 were changed from to Coenzyme Q10 deficiency, primary, 5, MIM#614654",
"entity_name": "COQ9",
"entity_type": "gene"
},
{
"created": "2025-12-05T17:35:37.652272+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COQ9 were set to ",
"entity_name": "COQ9",
"entity_type": "gene"
},
{
"created": "2025-12-05T17:34:53.663374+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COQ9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ9",
"entity_type": "gene"
},
{
"created": "2025-12-05T17:34:10.255382+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COQ8B as ready",
"entity_name": "COQ8B",
"entity_type": "gene"
},
{
"created": "2025-12-05T17:34:10.244731+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coq8b has been classified as Green List (High Evidence).",
"entity_name": "COQ8B",
"entity_type": "gene"
},
{
"created": "2025-12-05T17:34:07.200557+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COQ8B were changed from to Nephrotic syndrome, type 9 MIM#615573",
"entity_name": "COQ8B",
"entity_type": "gene"
},
{
"created": "2025-12-05T17:33:31.628838+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COQ8B were set to ",
"entity_name": "COQ8B",
"entity_type": "gene"
},
{
"created": "2025-12-05T17:33:00.747934+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COQ8B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ8B",
"entity_type": "gene"
},
{
"created": "2025-12-05T17:32:13.492737+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COQ8A as ready",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2025-12-05T17:32:13.479250+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coq8a has been classified as Green List (High Evidence).",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2025-12-05T17:32:10.110127+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COQ8A were changed from to Coenzyme Q10 deficiency, primary, 4 MIM#612016",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2025-12-05T17:31:40.772124+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COQ8A were set to ",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2025-12-05T17:31:15.581086+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COQ8A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2025-12-05T17:30:30.951770+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COQ6 as ready",
"entity_name": "COQ6",
"entity_type": "gene"
},
{
"created": "2025-12-05T17:30:30.943414+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coq6 has been classified as Green List (High Evidence).",
"entity_name": "COQ6",
"entity_type": "gene"
},
{
"created": "2025-12-05T17:30:27.771300+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COQ6 were changed from to Coenzyme Q10 deficiency, primary, 6 MIM#614650",
"entity_name": "COQ6",
"entity_type": "gene"
},
{
"created": "2025-12-05T17:29:52.778500+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COQ6 were set to ",
"entity_name": "COQ6",
"entity_type": "gene"
},
{
"created": "2025-12-05T17:29:24.784514+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COQ6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ6",
"entity_type": "gene"
},
{
"created": "2025-12-05T17:28:40.663302+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLPP as ready",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2025-12-05T17:28:40.651109+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clpp has been classified as Green List (High Evidence).",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2025-12-05T17:28:37.776363+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLPP were changed from to Perrault syndrome 3, MIM# 614129",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2025-12-05T17:28:03.294418+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLPP were set to ",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2025-12-05T17:27:27.649513+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLPP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2025-12-05T17:26:36.223455+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BOLA3 as ready",
"entity_name": "BOLA3",
"entity_type": "gene"
},
{
"created": "2025-12-05T17:26:36.212110+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bola3 has been classified as Green List (High Evidence).",
"entity_name": "BOLA3",
"entity_type": "gene"
},
{
"created": "2025-12-05T17:26:33.306608+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BOLA3 were changed from to Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299",
"entity_name": "BOLA3",
"entity_type": "gene"
},
{
"created": "2025-12-05T17:26:00.573758+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BOLA3 were set to ",
"entity_name": "BOLA3",
"entity_type": "gene"
},
{
"created": "2025-12-05T17:25:32.582747+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BOLA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BOLA3",
"entity_type": "gene"
},
{
"created": "2025-12-05T17:24:49.321079+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BCS1L as ready",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2025-12-05T17:24:49.312705+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bcs1l has been classified as Green List (High Evidence).",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2025-12-05T17:24:46.252341+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BCS1L were changed from to Bjornstad syndrome, MIM# 262000; Leigh syndrome, MIM# 256000; BCS1L-related mitochondrial disease",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2025-12-05T17:24:13.934938+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BCS1L were set to ",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2025-12-05T17:23:29.883979+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BCS1L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2025-12-05T16:01:35.090685+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.486",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37404-Gain from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-05T16:01:34.715644+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.486",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37404-Gain was added\nRegion: ISCA-37404-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37404-Gain.\nMode of inheritance for Region: ISCA-37404-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37404-Gain were set to 24239951; 24075935\nPhenotypes for Region: ISCA-37404-Gain were set to Chromosome 15q11q13 duplication syndrome; {Autism susceptibility 4}\t608636; intellectual disability; seizures; ataxia",
"entity_name": "ISCA-37404-Gain",
"entity_type": "region"
},
{
"created": "2025-12-05T16:00:51.277826+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.233",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37404-Gain from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-05T16:00:51.113746+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.233",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37404-Gain was added\nRegion: ISCA-37404-Gain was added to Autism. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37404-Gain.\nMode of inheritance for Region: ISCA-37404-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37404-Gain were set to 24239951; 24075935\nPhenotypes for Region: ISCA-37404-Gain were set to Chromosome 15q11q13 duplication syndrome; {Autism susceptibility 4}\t608636; intellectual disability; seizures; ataxia",
"entity_name": "ISCA-37404-Gain",
"entity_type": "region"
},
{
"created": "2025-12-05T15:54:50.607545+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.485",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37400-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-05T15:54:47.407948+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.485",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37400-Loss was added\nRegion: ISCA-37400-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37400-Loss.\nMode of inheritance for Region: ISCA-37400-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-37400-Loss were set to Chromosome 16p11.2 deletion syndrome, proximal, MIM#\t611913; autism; intellectual disability; seizures",
"entity_name": "ISCA-37400-Loss",
"entity_type": "region"
},
{
"created": "2025-12-05T15:54:08.270870+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.303",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37400-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-05T15:54:07.829616+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.303",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37400-Loss was added\nRegion: ISCA-37400-Loss was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37400-Loss.\nMode of inheritance for Region: ISCA-37400-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-37400-Loss were set to Chromosome 16p11.2 deletion syndrome, proximal, MIM#\t611913; autism; intellectual disability; seizures",
"entity_name": "ISCA-37400-Loss",
"entity_type": "region"
},
{
"created": "2025-12-05T15:53:16.643873+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.232",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37400-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-05T15:53:16.401477+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.232",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37400-Loss was added\nRegion: ISCA-37400-Loss was added to Autism. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37400-Loss.\nMode of inheritance for Region: ISCA-37400-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-37400-Loss were set to Chromosome 16p11.2 deletion syndrome, proximal, MIM#\t611913; autism; intellectual disability; seizures",
"entity_name": "ISCA-37400-Loss",
"entity_type": "region"
},
{
"created": "2025-12-05T15:51:08.104090+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.484",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37400-Gain from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-05T15:51:07.758040+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.484",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37400-Gain was added\nRegion: ISCA-37400-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37400-Gain.\nMode of inheritance for Region: ISCA-37400-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37400-Gain were set to 21841781; 18184952; 21731881\nPhenotypes for Region: ISCA-37400-Gain were set to Chromosome 16p11.2 duplication syndrome, MIM#\t614671; intellectual disability; autism",
"entity_name": "ISCA-37400-Gain",
"entity_type": "region"
},
{
"created": "2025-12-05T15:50:30.417282+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.484",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37397-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-05T15:50:29.954672+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.484",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37397-Loss was added\nRegion: ISCA-37397-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37397-Loss.\nMode of inheritance for Region: ISCA-37397-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37397-Loss were set to 21671380; 23765049; 18179902\nPhenotypes for Region: ISCA-37397-Loss were set to Chromosome 22q11.2 deletion syndrome, distal, MIM#611867; intellectual disability; seizures; growth retardation; multiple congenital anomalies",
"entity_name": "ISCA-37397-Loss",
"entity_type": "region"
},
{
"created": "2025-12-05T15:49:41.636801+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.86",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37397-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-05T15:49:41.558553+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.86",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37397-Loss was added\nRegion: ISCA-37397-Loss was added to Growth failure. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37397-Loss.\nMode of inheritance for Region: ISCA-37397-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37397-Loss were set to 21671380; 23765049; 18179902\nPhenotypes for Region: ISCA-37397-Loss were set to Chromosome 22q11.2 deletion syndrome, distal, MIM#611867; intellectual disability; seizures; growth retardation; multiple congenital anomalies",
"entity_name": "ISCA-37397-Loss",
"entity_type": "region"
},
{
"created": "2025-12-05T15:49:41.181193+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.509",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37397-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-05T15:49:41.013580+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.509",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37397-Loss was added\nRegion: ISCA-37397-Loss was added to Congenital Heart Defect. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37397-Loss.\nMode of inheritance for Region: ISCA-37397-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37397-Loss were set to 21671380; 23765049; 18179902\nPhenotypes for Region: ISCA-37397-Loss were set to Chromosome 22q11.2 deletion syndrome, distal, MIM#611867; intellectual disability; seizures; growth retardation; multiple congenital anomalies",
"entity_name": "ISCA-37397-Loss",
"entity_type": "region"
},
{
"created": "2025-12-05T15:47:22.912941+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.483",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37397-Gain from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-05T15:47:22.569758+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.483",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37397-Gain was added\nRegion: ISCA-37397-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37397-Gain.\nMode of inheritance for Region: ISCA-37397-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37397-Gain were set to 21671380; 31479204\nPhenotypes for Region: ISCA-37397-Gain were set to Chromosome 22q11.2 microduplication syndrome, MIM#608363, distal; intellectual disability; dysmorphic features; congenital anomalies",
"entity_name": "ISCA-37397-Gain",
"entity_type": "region"
},
{
"created": "2025-12-05T15:46:08.648035+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.374",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37396-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
}
]
}