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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=446",
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"results": [
{
"created": "2024-05-24T20:15:03.019450+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fmo3 has been classified as Green List (High Evidence).",
"entity_name": "FMO3",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:14:58.674020+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FMO3 as Green List (high evidence)",
"entity_name": "FMO3",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:14:58.659635+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fmo3 has been classified as Green List (High Evidence).",
"entity_name": "FMO3",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:14:33.785120+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAH as ready",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:14:33.766902+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fah has been classified as Green List (High Evidence).",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:14:18.666611+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FAH as Green List (high evidence)",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:14:18.653868+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fah has been classified as Green List (High Evidence).",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:13:50.402610+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAJC12 as ready",
"entity_name": "DNAJC12",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:13:50.391113+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnajc12 has been classified as Green List (High Evidence).",
"entity_name": "DNAJC12",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:13:33.352753+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNAJC12 were set to 28132689, 30179615, 28892570, 28794131, 30139987",
"entity_name": "DNAJC12",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:13:00.484110+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DNAJC12 as Green List (high evidence)",
"entity_name": "DNAJC12",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:13:00.470890+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnajc12 has been classified as Green List (High Evidence).",
"entity_name": "DNAJC12",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:12:36.151627+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DMGDH as ready",
"entity_name": "DMGDH",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:12:36.128832+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dmgdh has been classified as Red List (Low Evidence).",
"entity_name": "DMGDH",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:12:23.647505+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DMGDH as Red List (low evidence)",
"entity_name": "DMGDH",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:12:23.633644+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dmgdh has been classified as Red List (Low Evidence).",
"entity_name": "DMGDH",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:12:05.240173+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHTKD1 as ready",
"entity_name": "DHTKD1",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:12:05.211856+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhtkd1 has been classified as Green List (High Evidence).",
"entity_name": "DHTKD1",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:12:01.804409+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DHTKD1 were set to 26141459, 25860818, 23141293",
"entity_name": "DHTKD1",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:09:06.164414+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DHTKD1 as Green List (high evidence)",
"entity_name": "DHTKD1",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:09:06.151911+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhtkd1 has been classified as Green List (High Evidence).",
"entity_name": "DHTKD1",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:08:50.593004+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTH as ready",
"entity_name": "CTH",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:08:50.578882+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cth has been classified as Green List (High Evidence).",
"entity_name": "CTH",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:08:29.174062+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CTH as Green List (high evidence)",
"entity_name": "CTH",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:08:29.161171+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cth has been classified as Green List (High Evidence).",
"entity_name": "CTH",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:08:10.158786+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CPS1 as ready",
"entity_name": "CPS1",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:08:10.143557+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cps1 has been classified as Green List (High Evidence).",
"entity_name": "CPS1",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:08:05.335646+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CPS1 as Green List (high evidence)",
"entity_name": "CPS1",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:08:05.307514+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cps1 has been classified as Green List (High Evidence).",
"entity_name": "CPS1",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:07:46.359172+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CBS as ready",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:07:46.345113+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cbs has been classified as Green List (High Evidence).",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:07:35.416574+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CBS as Green List (high evidence)",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:07:35.404226+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cbs has been classified as Green List (High Evidence).",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:06:55.919220+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CA5A as ready",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:06:55.897590+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ca5a has been classified as Green List (High Evidence).",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:06:50.549411+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CA5A were set to 24530203, 26913920, 23589845",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:06:22.030544+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CA5A as Green List (high evidence)",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:06:21.993044+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ca5a has been classified as Green List (High Evidence).",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:05:22.683300+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASS1 as ready",
"entity_name": "ASS1",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:05:22.670577+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ass1 has been classified as Green List (High Evidence).",
"entity_name": "ASS1",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:05:16.927210+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ASS1 as Green List (high evidence)",
"entity_name": "ASS1",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:05:16.909068+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ass1 has been classified as Green List (High Evidence).",
"entity_name": "ASS1",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:05:00.571589+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDH7A1 as ready",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:05:00.553092+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh7a1 has been classified as Green List (High Evidence).",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:04:57.227838+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALDH7A1 were set to 19142996, 16491085, 22784480, 29053735",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:04:37.336894+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALDH7A1 as Green List (high evidence)",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:04:37.314870+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh7a1 has been classified as Green List (High Evidence).",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:04:20.773250+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDH4A1 as ready",
"entity_name": "ALDH4A1",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:04:20.760052+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh4a1 has been classified as Green List (High Evidence).",
"entity_name": "ALDH4A1",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:04:17.809640+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALDH4A1 were set to 2624476, 13835167, 4369405, 8621661",
"entity_name": "ALDH4A1",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:03:58.223919+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALDH4A1 as Green List (high evidence)",
"entity_name": "ALDH4A1",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:03:58.209657+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh4a1 has been classified as Green List (High Evidence).",
"entity_name": "ALDH4A1",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:03:44.284504+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDH18A1 as ready",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:03:44.272664+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh18a1 has been classified as Green List (High Evidence).",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:03:40.232368+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALDH18A1 were set to 32017139, 26026163, 26320891",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:03:23.430558+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALDH18A1 as Green List (high evidence)",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:03:23.417400+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh18a1 has been classified as Green List (High Evidence).",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:03:04.035061+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AHCY as ready",
"entity_name": "AHCY",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:03:03.990486+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ahcy has been classified as Green List (High Evidence).",
"entity_name": "AHCY",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:02:53.539994+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AHCY were set to 13641268, 15024124, 16736098, 20852937, 22959829, 30121674, 26527160, 26095522, 27848944, 31957987, 35463910",
"entity_name": "AHCY",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:02:06.710833+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AHCY as Green List (high evidence)",
"entity_name": "AHCY",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:02:06.698358+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ahcy has been classified as Green List (High Evidence).",
"entity_name": "AHCY",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:01:47.766573+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADK as ready",
"entity_name": "ADK",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:01:47.747459+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adk has been classified as Green List (High Evidence).",
"entity_name": "ADK",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:01:43.313804+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADK were set to 21963049, 26642971, 33309011, 27671891",
"entity_name": "ADK",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:01:25.392015+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADK as Green List (high evidence)",
"entity_name": "ADK",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:01:25.376652+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adk has been classified as Green List (High Evidence).",
"entity_name": "ADK",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:01:10.628797+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACY1 as ready",
"entity_name": "ACY1",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:01:10.613873+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acy1 has been classified as Green List (High Evidence).",
"entity_name": "ACY1",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:01:00.654563+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACY1 were set to 4997716, 24117009, 16465618, 17562838, 21414403, 16274666, 20480396",
"entity_name": "ACY1",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:00:26.288796+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACY1 as Green List (high evidence)",
"entity_name": "ACY1",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:00:26.276047+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acy1 has been classified as Green List (High Evidence).",
"entity_name": "ACY1",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:00:10.961380+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GAMT as ready",
"entity_name": "GAMT",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:00:10.942590+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gamt has been classified as Green List (High Evidence).",
"entity_name": "GAMT",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:00:05.786395+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GAMT as Green List (high evidence)",
"entity_name": "GAMT",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:00:05.759723+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gamt has been classified as Green List (High Evidence).",
"entity_name": "GAMT",
"entity_type": "gene"
},
{
"created": "2024-05-24T19:59:43.020684+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GATM as ready",
"entity_name": "GATM",
"entity_type": "gene"
},
{
"created": "2024-05-24T19:59:42.994741+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gatm has been classified as Green List (High Evidence).",
"entity_name": "GATM",
"entity_type": "gene"
},
{
"created": "2024-05-24T19:59:34.533593+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GATM as Green List (high evidence)",
"entity_name": "GATM",
"entity_type": "gene"
},
{
"created": "2024-05-24T19:59:34.516389+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gatm has been classified as Green List (High Evidence).",
"entity_name": "GATM",
"entity_type": "gene"
},
{
"created": "2024-05-24T14:44:55.596748+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5905",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RBBP8 as ready",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2024-05-24T14:44:55.573976+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5905",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbbp8 has been classified as Green List (High Evidence).",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2024-05-24T14:44:49.378624+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5905",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RBBP8 were changed from to Jawad syndrome, MIM#251255; Seckel syndrome 2, MIM#606744",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2024-05-24T14:43:31.197441+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RBBP8 were set to ",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2024-05-24T14:42:10.323925+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RBBP8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2024-05-24T14:41:29.574775+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5902",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RBBP8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Jawad syndrome, MIM#251255, Seckel syndrome 2, MIM#606744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2024-05-24T13:45:27.754504+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.18",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: GATM was added\ngene: GATM was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: GATM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GATM were set to 26490222; 23770102; 12468279; 27233232\nPhenotypes for gene: GATM were set to AGAT deficiency MONDO:0012996\nReview for gene: GATM was set to GREEN\nAdded comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 08/03/2019 - https://search.clinicalgenome.org/CCID:004930\r\n\r\nAGAT deficiency is an inborn error of creatine metabolism.\r\nWell established gene-disease association with evidence of segregation between affected individuals. LoF is the mechanism of disease \nSources: ClinGen",
"entity_name": "GATM",
"entity_type": "gene"
},
{
"created": "2024-05-24T12:12:46.689540+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1796",
"user_name": "James The",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2024-05-24T12:10:11.011386+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.18",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: GAMT was added\ngene: GAMT was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GAMT were set to 20301745; 17466557; 16293431; 12701824; 2441567\nPhenotypes for gene: GAMT were set to guanidinoacetate methyltransferase deficiency MONDO:0012999\nReview for gene: GAMT was set to GREEN\nAdded comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 25/01/2019 - https://search.clinicalgenome.org/CCID:004917\r\n\r\nWell established gene-disease association. \r\nReported as an inborn error of creatine metabolism.\r\nThe two most commonly reported variants are p.Trp20Ser (c.59G>C) and c.327G>A (p.Lys109=). Both variants are pathogenic on ClinVar (>2 stars) and is classified pathogenic by the ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel (FDA recognised database). \nSources: ClinGen",
"entity_name": "GAMT",
"entity_type": "gene"
},
{
"created": "2024-05-24T12:08:34.678350+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5902",
"user_name": "James The",
"item_type": "entity",
"text": "reviewed gene: RBBP8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:30561437, 34270086, 32379725; Phenotypes: 606744, 251255, 113705; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2024-05-24T11:51:42.944840+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.18",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: Classified Definitive by ClinGen Aminoacidopathy GCEP on 13/05/2021 - https://search.clinicalgenome.org/CCID:004907\r\n\r\nEstablished gene-disease association with multiple reported individuals having a metabolic abnormality. Mouse models were performed that recaptulated the human phenotype. \nSources: ClinGen; to: Classified Definitive by ClinGen Aminoacidopathy GCEP on 13/05/2021 - https://search.clinicalgenome.org/CCID:004907\r\n\r\nEstablished gene-disease association with multiple reported individuals having a metabolic abnormality. Mouse models were performed that recapitulated the human phenotype. \r\nSources: ClinGen",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2024-05-24T11:51:25.192262+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.18",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: GAD1 was added\ngene: GAD1 was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: GAD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GAD1 were set to 28454995; 31144778; 32282878; 15571623; 32705143; 9177246; 9326630; 20333300\nPhenotypes for gene: GAD1 were set to obsolete early infantile epileptic encephalopathy MONDO:0016021\nReview for gene: GAD1 was set to GREEN\nAdded comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 13/05/2021 - https://search.clinicalgenome.org/CCID:004907\r\n\r\nEstablished gene-disease association with multiple reported individuals having a metabolic abnormality. Mouse models were performed that recaptulated the human phenotype. \nSources: ClinGen",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2024-05-24T11:32:44.966642+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.18",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: FMO3 was added\ngene: FMO3 was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: FMO3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FMO3 were set to 31317802; 28649550\nPhenotypes for gene: FMO3 were set to trimethylaminuria MONDO:0011182\nReview for gene: FMO3 was set to GREEN\nAdded comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 14/08/2020 - https://search.clinicalgenome.org/CCID:004868\r\n\r\nWell established gene-disease assocation. Multiple reported individuals with an abnormality in trimethylamine metabolism. \nSources: ClinGen",
"entity_name": "FMO3",
"entity_type": "gene"
},
{
"created": "2024-05-24T10:54:01.011785+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.18",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: FAH was added\ngene: FAH was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAH were set to 20301688; 8318997; 7550234; 7942842; 2378356; 9095403; 26829318\nPhenotypes for gene: FAH were set to tyrosinemia type I MONDO:0010161\nReview for gene: FAH was set to GREEN\nAdded comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 29/06/2020 - https://search.clinicalgenome.org/CCID:004804\r\n\r\nTypically present in young infants with abnormal liver function as FAH is mainly expressed in the liver. \r\nWell established gene-disease association with multiple reported individuals having abnormal biochemical function of FAH. \r\nLoF is the mechanism of disease. Gene Reviews reports many founder variants in different population. \nSources: ClinGen",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2024-05-24T10:41:25.266537+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.18",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: DNAJC12 was added\ngene: DNAJC12 was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: DNAJC12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAJC12 were set to 28132689, 30179615, 28892570, 28794131, 30139987\nPhenotypes for gene: DNAJC12 were set to hyperphenylalaninemia due to DNAJC12 deficiency MONDO:0044304\nReview for gene: DNAJC12 was set to GREEN\nAdded comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 11/01/2021 - https://search.clinicalgenome.org/CCID:004679\r\n\r\nBiochemical abnormalities have been reported in at least 7 probands. \nSources: ClinGen",
"entity_name": "DNAJC12",
"entity_type": "gene"
},
{
"created": "2024-05-24T09:39:21.994430+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.18",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: DMGDH was added\ngene: DMGDH was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: DMGDH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DMGDH were set to 11231903\nPhenotypes for gene: DMGDH were set to dimethylglycine dehydrogenase deficiency MONDO:0011610\nReview for gene: DMGDH was set to RED\nAdded comment: Classified Limited by ClinGen Aminoacidopathy GCEP on 12/12/2022 - https://search.clinicalgenome.org/CCID:004660\r\n\r\nReported in one individual with abnormal choline metabolism. \nSources: ClinGen",
"entity_name": "DMGDH",
"entity_type": "gene"
},
{
"created": "2024-05-24T09:28:46.593828+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.18",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: DHTKD1 was added\ngene: DHTKD1 was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: DHTKD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DHTKD1 were set to 26141459, 25860818, 23141293\nPhenotypes for gene: DHTKD1 were set to 2-aminoadipic 2-oxoadipic aciduria MONDO:0008774\nReview for gene: DHTKD1 was set to GREEN\nAdded comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 03/11/2020 - https://search.clinicalgenome.org/CCID:004644\r\n\r\nReported in >10 probands with biochemical abnormalities. Mouse models and functional assays have been conducted that confirm LoF mechanism of disease. \nSources: ClinGen",
"entity_name": "DHTKD1",
"entity_type": "gene"
},
{
"created": "2024-05-24T01:06:37.453157+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1796",
"user_name": "Andrew Fennell",
"item_type": "entity",
"text": "reviewed gene: DGCR8: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 34821987; Phenotypes: Early-onset multinodular goiter and schwannomatosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DGCR8",
"entity_type": "gene"
},
{
"created": "2024-05-23T16:22:00.448323+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5902",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "reviewed gene: CDON: Rating: GREEN; Mode of pathogenicity: None; Publications: 21802063, 26728615, 31502381, 32729136, 26529631; Phenotypes: holoprosencephaly 11 MONDO:0013642; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CDON",
"entity_type": "gene"
},
{
"created": "2024-05-23T16:02:41.608295+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.18",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: CTH was added\ngene: CTH was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: CTH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CTH were set to 20584029; 19428278; 12574942\nPhenotypes for gene: CTH were set to cystathioninuria MONDO:0009058\nReview for gene: CTH was set to GREEN\nAdded comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 14/06/2019 - https://search.clinicalgenome.org/CCID:004594\r\n\r\nInborn error of cystathionine gamma-lyase metabolism and has been reported in >5 affected individuals. \nSources: ClinGen",
"entity_name": "CTH",
"entity_type": "gene"
}
]
}