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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=219",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=217",
"results": [
{
"created": "2025-05-30T02:14:39.382158+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TAZ were changed from Barth syndrome, 302060 (3) to Barth syndrome, MIM#302060",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:14:27.940214+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TAZ were set to ",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:14:00.539426+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TAT as ready",
"entity_name": "TAT",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:14:00.533288+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tat has been classified as Green List (High Evidence).",
"entity_name": "TAT",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:13:54.740795+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TAT were changed from Tyrosinemia, type II\t(MIM#276600) to Tyrosinaemia, type II, MIM# 276600, MONDO:0010160",
"entity_name": "TAT",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:13:42.482136+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TAT were set to 16574453",
"entity_name": "TAT",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:13:12.206424+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TANGO2 as ready",
"entity_name": "TANGO2",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:13:12.200188+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tango2 has been classified as Green List (High Evidence).",
"entity_name": "TANGO2",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:13:07.450964+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TANGO2 were changed from Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration MIM#616878",
"entity_name": "TANGO2",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:12:50.673385+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: TANGO2.",
"entity_name": "TANGO2",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:12:24.997396+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SYN1 as ready",
"entity_name": "SYN1",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:12:24.984488+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: syn1 has been classified as Green List (High Evidence).",
"entity_name": "SYN1",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:12:21.436528+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SYN1 were changed from Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3) to Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders, MIM#300491; Intellectual developmental disorder, X-linked 50, MIM#300115",
"entity_name": "SYN1",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:12:09.680352+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SYN1 were set to ",
"entity_name": "SYN1",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:11:42.657205+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SURF1 as ready",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:11:42.651265+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: surf1 has been classified as Green List (High Evidence).",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:11:38.487341+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SURF1 were changed from Leigh syndrome, due to COX deficiency, 256000 (3) to Mitochondrial complex IV deficiency, nuclear type 1 MIM#220110",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:11:25.578083+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SURF1 were set to ",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:10:57.897650+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUOX as ready",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:10:57.890762+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: suox has been classified as Green List (High Evidence).",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:10:54.130629+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SUOX were changed from Sulfite oxidase deficiency, 272300 (3) to Sulfite oxidase deficiency, MIM#272300",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:10:43.038159+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SUOX were set to ",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:10:13.237885+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUMF1 as ready",
"entity_name": "SUMF1",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:10:13.231904+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sumf1 has been classified as Green List (High Evidence).",
"entity_name": "SUMF1",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:08:11.555720+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SUMF1 were changed from Multiple sulfatase deficiency, 272200 (3) to Multiple sulfatase deficiency, MIM#272200",
"entity_name": "SUMF1",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:07:52.890656+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SUMF1 were set to ",
"entity_name": "SUMF1",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:07:29.118485+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STXBP2 as ready",
"entity_name": "STXBP2",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:07:29.111620+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stxbp2 has been classified as Green List (High Evidence).",
"entity_name": "STXBP2",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:07:24.389391+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STXBP2 were changed from Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (3) to Haemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease MIM#613101",
"entity_name": "STXBP2",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:06:59.502101+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STXBP2 were set to ",
"entity_name": "STXBP2",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:06:32.275974+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1099",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STX11 as ready",
"entity_name": "STX11",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:06:32.230370+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1099",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stx11 has been classified as Green List (High Evidence).",
"entity_name": "STX11",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:06:27.357362+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1099",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STX11 were changed from Hemophagocytic lymphohistiocytosis, familial, 4, 603552 (3) to Haemophagocytic lymphohistiocytosis, familial, 4, MIM#603552",
"entity_name": "STX11",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:06:09.974236+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1098",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STX11 were set to ",
"entity_name": "STX11",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:05:31.453864+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1097",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STAR as ready",
"entity_name": "STAR",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:05:31.447399+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1097",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: star has been classified as Green List (High Evidence).",
"entity_name": "STAR",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:05:27.544975+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1097",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STAR were changed from Lipoid adrenal hyperplasia, 201710 (3) to Lipoid adrenal hyperplasia MIM#201710",
"entity_name": "STAR",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:05:15.019669+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1096",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STAR were set to ",
"entity_name": "STAR",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:04:23.159934+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1095",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ST3GAL5 as ready",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:04:23.153675+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1095",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: st3gal5 has been classified as Green List (High Evidence).",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:04:19.035996+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1095",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ST3GAL5 were changed from Salt and pepper developmental regression syndrome, 609056 (3), Autosomal recessive to Salt and pepper developmental regression syndrome, MIM# 609056",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:04:05.192694+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1094",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ST3GAL5 were set to ",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:03:40.278972+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1093",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPR as ready",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:03:40.271715+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1093",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spr has been classified as Green List (High Evidence).",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:03:34.142614+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1093",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPR were changed from Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 (3) to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency MIM#612716",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:03:20.898073+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1092",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPR were set to ",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:02:55.279087+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1091",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPINK5 as ready",
"entity_name": "SPINK5",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:02:55.263761+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1091",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spink5 has been classified as Green List (High Evidence).",
"entity_name": "SPINK5",
"entity_type": "gene"
},
{
"created": "2025-05-30T02:02:50.753664+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1091",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPINK5 were changed from Netherton syndrome, 256500 (3) to Netherton syndrome, MIM#256500",
"entity_name": "SPINK5",
"entity_type": "gene"
},
{
"created": "2025-05-30T01:57:12.240917+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1090",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPG11 as ready",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2025-05-30T01:57:12.230687+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1090",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spg11 has been classified as Green List (High Evidence).",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2025-05-30T01:56:45.296696+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1090",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPATA5 as ready",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2025-05-30T01:56:45.286233+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1090",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spata5 has been classified as Green List (High Evidence).",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2025-05-30T01:55:21.466555+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1090",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPATA5 were changed from Epilepsy, hearing loss, and mental retardation syndrome, 616577 (3), Autosomal recessive to Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, MIM# 616577",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2025-05-30T01:55:03.331853+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1089",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPATA5 were set to ",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2025-05-30T01:54:34.222370+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1088",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNAP29 as ready",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2025-05-30T01:54:34.215853+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1088",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snap29 has been classified as Green List (High Evidence).",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2025-05-30T01:54:30.739495+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1088",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SNAP29 were changed from Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3) to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528)",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2025-05-30T01:54:17.833141+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1087",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SNAP29 were set to ",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2025-05-30T01:53:49.324866+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1086",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMPD1 as ready",
"entity_name": "SMPD1",
"entity_type": "gene"
},
{
"created": "2025-05-30T01:53:49.317704+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1086",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smpd1 has been classified as Green List (High Evidence).",
"entity_name": "SMPD1",
"entity_type": "gene"
},
{
"created": "2025-05-30T01:53:44.985637+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1086",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMPD1 were changed from Niemann-Pick disease, type A, 257200 (3) to Niemann-Pick disease, type A, MIM#257200; Niemann-Pick disease, type B, MIM#607616",
"entity_name": "SMPD1",
"entity_type": "gene"
},
{
"created": "2025-05-30T01:53:20.970310+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1085",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMPD1 were set to ",
"entity_name": "SMPD1",
"entity_type": "gene"
},
{
"created": "2025-05-30T01:45:12.032061+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1084",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMN1 as ready",
"entity_name": "SMN1",
"entity_type": "gene"
},
{
"created": "2025-05-30T01:45:12.022532+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1084",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smn1 has been classified as Green List (High Evidence).",
"entity_name": "SMN1",
"entity_type": "gene"
},
{
"created": "2025-05-30T01:45:07.471609+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1084",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMN1 were changed from Spinal muscular atrophy-1, 253300 (3) to Spinal muscular atrophy-1, MIM# 253300, MONDO:0009669",
"entity_name": "SMN1",
"entity_type": "gene"
},
{
"created": "2025-05-30T01:44:55.587316+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1083",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMN1 were set to ",
"entity_name": "SMN1",
"entity_type": "gene"
},
{
"created": "2025-05-30T01:44:29.485604+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1082",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMARCAL1 as ready",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2025-05-30T01:44:29.470547+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1082",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarcal1 has been classified as Green List (High Evidence).",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2025-05-30T01:44:23.900412+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1082",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMARCAL1 were changed from Schimke immunoosseous dysplasia, 242900 (3) to Schimke immunoosseous dysplasia, MIM# 242900",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2025-05-30T01:44:08.702542+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMARCAL1 were set to ",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2025-05-30T01:43:44.519873+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1080",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC7A7 as ready",
"entity_name": "SLC7A7",
"entity_type": "gene"
},
{
"created": "2025-05-30T01:43:44.512386+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1080",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc7a7 has been classified as Green List (High Evidence).",
"entity_name": "SLC7A7",
"entity_type": "gene"
},
{
"created": "2025-05-30T01:43:40.351522+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1080",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC7A7 were changed from Lysinuric protein intolerance, 222700 (3) to Lysinuric protein intolerance, MIM#222700",
"entity_name": "SLC7A7",
"entity_type": "gene"
},
{
"created": "2025-05-30T01:43:30.273838+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC7A7 were set to ",
"entity_name": "SLC7A7",
"entity_type": "gene"
},
{
"created": "2025-05-30T01:43:03.016563+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC6A8 as ready",
"entity_name": "SLC6A8",
"entity_type": "gene"
},
{
"created": "2025-05-30T01:43:03.007028+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc6a8 has been classified as Green List (High Evidence).",
"entity_name": "SLC6A8",
"entity_type": "gene"
},
{
"created": "2025-05-30T01:42:58.795292+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC6A8 were changed from Cerebral creatine deficiency syndrome 1, 300352 (3) to Cerebral creatine deficiency syndrome 1, MIM#300352",
"entity_name": "SLC6A8",
"entity_type": "gene"
},
{
"created": "2025-05-30T01:42:46.615579+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1077",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC6A8 were set to ",
"entity_name": "SLC6A8",
"entity_type": "gene"
},
{
"created": "2025-05-30T01:31:08.502078+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYCBP2 as Red List (low evidence)",
"entity_name": "MYCBP2",
"entity_type": "gene"
},
{
"created": "2025-05-30T01:31:08.485287+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mycbp2 has been classified as Red List (Low Evidence).",
"entity_name": "MYCBP2",
"entity_type": "gene"
},
{
"created": "2025-05-30T01:30:41.313456+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MYCBP2: Added comment: Concerns about LoF variants in population datasets as well as in individuals undergoing diagnostic testing for a wide variety of unrelated phenotypes: downgrade to RED.; Changed rating: RED",
"entity_name": "MYCBP2",
"entity_type": "gene"
},
{
"created": "2025-05-30T01:30:12.631246+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYCBP2 as Red List (low evidence)",
"entity_name": "MYCBP2",
"entity_type": "gene"
},
{
"created": "2025-05-30T01:30:12.624260+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mycbp2 has been classified as Red List (Low Evidence).",
"entity_name": "MYCBP2",
"entity_type": "gene"
},
{
"created": "2025-05-30T01:29:49.206416+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYCBP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYCBP2",
"entity_type": "gene"
},
{
"created": "2025-05-30T01:24:10.974173+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYCBP2 as Red List (low evidence)",
"entity_name": "MYCBP2",
"entity_type": "gene"
},
{
"created": "2025-05-30T01:24:10.965805+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mycbp2 has been classified as Red List (Low Evidence).",
"entity_name": "MYCBP2",
"entity_type": "gene"
},
{
"created": "2025-05-30T01:23:41.489274+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MYCBP2: Added comment: Concerns about LoF variants in population datasets as well as in individuals undergoing diagnostic testing for a wide variety of unrelated phenotypes: downgrade to RED.; Changed rating: RED",
"entity_name": "MYCBP2",
"entity_type": "gene"
},
{
"created": "2025-05-30T01:20:47.445079+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYCBP2 as Red List (low evidence)",
"entity_name": "MYCBP2",
"entity_type": "gene"
},
{
"created": "2025-05-30T01:20:47.435352+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mycbp2 has been classified as Red List (Low Evidence).",
"entity_name": "MYCBP2",
"entity_type": "gene"
},
{
"created": "2025-05-30T01:20:30.260161+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2599",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYCBP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYCBP2",
"entity_type": "gene"
},
{
"created": "2025-05-29T11:17:48.878689+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.148",
"user_name": "Chris Ciotta",
"item_type": "entity",
"text": "reviewed gene: TOP2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 33459963, 31953910, 28343847; Phenotypes: Intellectual disability (MONDO:0001071), TOP2B-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TOP2B",
"entity_type": "gene"
},
{
"created": "2025-05-29T11:09:11.921128+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.119",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "gene: ZBTB7B was added\ngene: ZBTB7B was added to Combined Immunodeficiency. Sources: Literature\nMode of inheritance for gene: ZBTB7B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZBTB7B were set to PMID: 40392549\nPhenotypes for gene: ZBTB7B were set to Combined Immune deficiency; interstitial lung disease; severe atopy\nMode of pathogenicity for gene: ZBTB7B was set to Other\nReview for gene: ZBTB7B was set to AMBER\nAdded comment: Single patient presented with a complex syndromic phenotype including CID, severe atopy, severe fibroinflammatory interstitial lung disease, corneal vascularization and scarring, sensorineural hearing loss, global developmental delay, and growth failure.\r\nThPOKK360N variant is not found in the unaffected individuals; functional investigations indicate that ThPOKK360N exhibits damaging multimorphic effects; and the causal relationship between ThPOKK360N and the clinical phenotype was confirmed through gene transfer experiments in both T cells and pulmonary fibroblasts.\r\n? green based on this strongly supportive data \nSources: Literature",
"entity_name": "ZBTB7B",
"entity_type": "gene"
},
{
"created": "2025-05-27T21:34:10.813626+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC6A5 as ready",
"entity_name": "SLC6A5",
"entity_type": "gene"
},
{
"created": "2025-05-27T21:34:10.805011+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc6a5 has been classified as Green List (High Evidence).",
"entity_name": "SLC6A5",
"entity_type": "gene"
},
{
"created": "2025-05-27T21:34:04.297920+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC6A5 were changed from Hyperekplexia 3, 614618 (3) to Hyperekplexia 3, MIM#614618",
"entity_name": "SLC6A5",
"entity_type": "gene"
},
{
"created": "2025-05-27T21:33:52.024508+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1075",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC6A5 were set to ",
"entity_name": "SLC6A5",
"entity_type": "gene"
},
{
"created": "2025-05-27T21:33:13.285332+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1074",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC52A3 as ready",
"entity_name": "SLC52A3",
"entity_type": "gene"
},
{
"created": "2025-05-27T21:33:13.279117+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1074",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc52a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC52A3",
"entity_type": "gene"
},
{
"created": "2025-05-27T21:33:08.876727+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1074",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC52A3 were changed from Brown-Vialetto-Van Laere syndrome 1, 211530 (3) to Brown-Vialetto-Van Laere syndrome 1, MIM#211530",
"entity_name": "SLC52A3",
"entity_type": "gene"
}
]
}