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{
"count": 220324,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=907",
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"results": [
{
"created": "2022-03-28T17:30:32.516137+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12183",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ADRB1 were changed from [Resting heart rate] MIM#607276; [Short sleep, familial natural, 2] MIM#618591 to [Resting heart rate] MIM#607276; [Short sleep, familial natural, 2] MIM#618591",
"entity_name": "ADRB1",
"entity_type": "gene"
},
{
"created": "2022-03-28T17:28:56.952809+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12182",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NUP62: Rating: AMBER; Mode of pathogenicity: None; Publications: 16786527; Phenotypes: Striatonigral degeneration, infantile - MIM#271930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NUP62",
"entity_type": "gene"
},
{
"created": "2022-03-28T17:28:53.488358+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.462",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NUP62: Rating: AMBER; Mode of pathogenicity: None; Publications: 16786527; Phenotypes: Striatonigral degeneration, infantile - MIM#271930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NUP62",
"entity_type": "gene"
},
{
"created": "2022-03-28T17:24:43.108391+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12182",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ADRB1 were changed from to [Resting heart rate] MIM#607276; [Short sleep, familial natural, 2] MIM#618591",
"entity_name": "ADRB1",
"entity_type": "gene"
},
{
"created": "2022-03-28T17:24:32.510506+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12181",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: ADRB1 as ready",
"entity_name": "ADRB1",
"entity_type": "gene"
},
{
"created": "2022-03-28T17:24:32.498514+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12181",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: adrb1 has been classified as Red List (Low Evidence).",
"entity_name": "ADRB1",
"entity_type": "gene"
},
{
"created": "2022-03-28T17:21:40.537117+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12181",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADRB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ADRB1",
"entity_type": "gene"
},
{
"created": "2022-03-28T17:21:37.188622+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12182",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: ADRB1 were set to ",
"entity_name": "ADRB1",
"entity_type": "gene"
},
{
"created": "2022-03-28T17:21:29.196304+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12181",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: ADRB1 as Red List (low evidence)",
"entity_name": "ADRB1",
"entity_type": "gene"
},
{
"created": "2022-03-28T17:21:29.186178+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12181",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: adrb1 has been classified as Red List (Low Evidence).",
"entity_name": "ADRB1",
"entity_type": "gene"
},
{
"created": "2022-03-28T17:16:49.957992+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12180",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ADRB1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31473062, 34716504; Phenotypes: [Resting heart rate] MIM#607276, [Short sleep, familial natural, 2] MIM#618591; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ADRB1",
"entity_type": "gene"
},
{
"created": "2022-03-28T17:10:24.981973+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NTN1 as ready",
"entity_name": "NTN1",
"entity_type": "gene"
},
{
"created": "2022-03-28T17:10:24.963789+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ntn1 has been classified as Green List (High Evidence).",
"entity_name": "NTN1",
"entity_type": "gene"
},
{
"created": "2022-03-28T17:10:17.014915+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NTN1 were changed from to Mirror movements 4 MIM#618264",
"entity_name": "NTN1",
"entity_type": "gene"
},
{
"created": "2022-03-28T17:09:56.643906+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NTN1 were set to ",
"entity_name": "NTN1",
"entity_type": "gene"
},
{
"created": "2022-03-28T17:09:36.844468+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NTN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NTN1",
"entity_type": "gene"
},
{
"created": "2022-03-28T17:08:53.500186+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NSD1 as ready",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2022-03-28T17:08:53.490391+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nsd1 has been classified as Green List (High Evidence).",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2022-03-28T17:08:45.279752+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NSD1 were changed from to Sotos syndrome 1 (MIM#117550), AD",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2022-03-28T17:08:24.170926+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NSD1 were set to ",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2022-03-28T17:08:04.022620+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NSD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2022-03-28T17:07:19.075008+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NRCAM as ready",
"entity_name": "NRCAM",
"entity_type": "gene"
},
{
"created": "2022-03-28T17:07:19.059447+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nrcam has been classified as Green List (High Evidence).",
"entity_name": "NRCAM",
"entity_type": "gene"
},
{
"created": "2022-03-28T17:06:48.305210+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NR4A3 as ready",
"entity_name": "NR4A3",
"entity_type": "gene"
},
{
"created": "2022-03-28T17:06:48.292319+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nr4a3 has been classified as Red List (Low Evidence).",
"entity_name": "NR4A3",
"entity_type": "gene"
},
{
"created": "2022-03-28T17:06:31.306041+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NR4A3 as Red List (low evidence)",
"entity_name": "NR4A3",
"entity_type": "gene"
},
{
"created": "2022-03-28T17:06:31.292124+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nr4a3 has been classified as Red List (Low Evidence).",
"entity_name": "NR4A3",
"entity_type": "gene"
},
{
"created": "2022-03-28T17:05:25.471595+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NKX2-5 as ready",
"entity_name": "NKX2-5",
"entity_type": "gene"
},
{
"created": "2022-03-28T17:05:25.460922+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nkx2-5 has been classified as Green List (High Evidence).",
"entity_name": "NKX2-5",
"entity_type": "gene"
},
{
"created": "2022-03-28T17:04:54.776243+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NKX2-5 were set to 30354339; 28690296; 25503402; 27855642",
"entity_name": "NKX2-5",
"entity_type": "gene"
},
{
"created": "2022-03-28T17:04:22.850217+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NKX2-5: Rating: GREEN; Mode of pathogenicity: None; Publications: 25742962, 26805889; Phenotypes: Ventricular septal defect 3 (MIM#614432), Tetralogy of Fallot (MIM#187500); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NKX2-5",
"entity_type": "gene"
},
{
"created": "2022-03-28T17:03:46.567207+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NKX2-5 were changed from to Atrial septal defect 7, with or without AV conduction defects, MIM#\t108900; Ventricular septal defect 3 (MIM#614432); Tetralogy of Fallot (MIM#187500)",
"entity_name": "NKX2-5",
"entity_type": "gene"
},
{
"created": "2022-03-28T17:02:39.695254+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NKX2-5 were set to ",
"entity_name": "NKX2-5",
"entity_type": "gene"
},
{
"created": "2022-03-28T17:02:19.747424+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NKX2-5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NKX2-5",
"entity_type": "gene"
},
{
"created": "2022-03-28T17:01:43.150918+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NKX2-1 as ready",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2022-03-28T17:01:43.141386+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nkx2-1 has been classified as Green List (High Evidence).",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2022-03-28T17:01:32.360380+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NKX2-1 were changed from to Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978; Chorea, hereditary benign MIM#118700",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2022-03-28T17:01:12.486541+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NKX2-1 were set to ",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2022-03-28T17:00:51.019733+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NKX2-1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2022-03-28T16:59:04.164380+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFAF5 as ready",
"entity_name": "NDUFAF5",
"entity_type": "gene"
},
{
"created": "2022-03-28T16:59:04.150229+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufaf5 has been classified as Green List (High Evidence).",
"entity_name": "NDUFAF5",
"entity_type": "gene"
},
{
"created": "2022-03-28T16:58:56.173307+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFAF5 were changed from to Mitochondrial complex I deficiency, nuclear type 3 MIM#618224",
"entity_name": "NDUFAF5",
"entity_type": "gene"
},
{
"created": "2022-03-28T16:58:36.594125+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFAF5 were set to ",
"entity_name": "NDUFAF5",
"entity_type": "gene"
},
{
"created": "2022-03-28T16:58:17.125669+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFAF5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFAF5",
"entity_type": "gene"
},
{
"created": "2022-03-28T16:57:39.583087+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFS4 as ready",
"entity_name": "NDUFS4",
"entity_type": "gene"
},
{
"created": "2022-03-28T16:57:39.570101+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufs4 has been classified as Green List (High Evidence).",
"entity_name": "NDUFS4",
"entity_type": "gene"
},
{
"created": "2022-03-28T16:57:32.082184+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFS4 were changed from to Mitochondrial complex I deficiency, nuclear type 1 - MIM#252010",
"entity_name": "NDUFS4",
"entity_type": "gene"
},
{
"created": "2022-03-28T16:57:03.824522+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFS4 were set to ",
"entity_name": "NDUFS4",
"entity_type": "gene"
},
{
"created": "2022-03-28T16:56:44.152473+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS4",
"entity_type": "gene"
},
{
"created": "2022-03-28T16:56:05.901340+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFV2 as ready",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2022-03-28T16:56:05.886917+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufv2 has been classified as Green List (High Evidence).",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2022-03-28T16:55:53.929703+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFV2 were changed from to Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2022-03-28T16:53:26.953307+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12159",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ADH1B were changed from to Aerodigestive tract cancer, squamous cell, alcohol-related, protection against} MIM#103780; {Alcohol dependence, protection against} MIM#103780",
"entity_name": "ADH1B",
"entity_type": "gene"
},
{
"created": "2022-03-28T16:53:21.019393+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12159",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: ADH1B was changed from to None",
"entity_name": "ADH1B",
"entity_type": "gene"
},
{
"created": "2022-03-28T16:53:14.365540+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12158",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: ADH1B as Red List (low evidence)",
"entity_name": "ADH1B",
"entity_type": "gene"
},
{
"created": "2022-03-28T16:53:14.352757+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12158",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: adh1b has been classified as Red List (Low Evidence).",
"entity_name": "ADH1B",
"entity_type": "gene"
},
{
"created": "2022-03-28T16:52:42.863848+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFV2 were set to ",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2022-03-28T16:52:21.082914+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFV2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2022-03-28T16:51:39.671359+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12155",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ADH1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Aerodigestive tract cancer, squamous cell, alcohol-related, protection against} MIM#103780, {Alcohol dependence, protection against} MIM#103780; Mode of inheritance: Unknown",
"entity_name": "ADH1B",
"entity_type": "gene"
},
{
"created": "2022-03-28T16:46:44.276636+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Multiple affected individuals reported; DD/ID is variable but present in most.; to: Multiple affected individuals reported; seizures are part of the phenotype.",
"entity_name": "CACNA2D2",
"entity_type": "gene"
},
{
"created": "2022-03-28T16:46:25.631187+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CACNA2D2 as ready",
"entity_name": "CACNA2D2",
"entity_type": "gene"
},
{
"created": "2022-03-28T16:46:25.621783+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna2d2 has been classified as Green List (High Evidence).",
"entity_name": "CACNA2D2",
"entity_type": "gene"
},
{
"created": "2022-03-28T16:46:21.649955+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA2D2 were changed from to Cerebellar atrophy with seizures and variable developmental delay MIM#618501",
"entity_name": "CACNA2D2",
"entity_type": "gene"
},
{
"created": "2022-03-28T16:45:46.061223+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CACNA2D2 were set to ",
"entity_name": "CACNA2D2",
"entity_type": "gene"
},
{
"created": "2022-03-28T16:45:10.446758+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CACNA2D2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CACNA2D2",
"entity_type": "gene"
},
{
"created": "2022-03-28T16:44:35.718543+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12155",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ADGRV1 were changed from ?Febrile seizures, familial, 4 MIM#604352; Usher syndrome, type 2C MIM#60547; Usher syndrome, type 2C, GPR98/PDZD7 digenic MIM#605472 to ?Febrile seizures, familial, 4 MIM#604352; Usher syndrome, type 2C MIM#60547; Usher syndrome, type 2C, GPR98/PDZD7 digenic MIM#605472",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2022-03-28T16:44:31.253946+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1528",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CACNA2D2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23339110, 24358150, 30410802, 29997391, 31402629, 11487633, 11756448, 4177347, 14660671, 15331424; Phenotypes: Cerebellar atrophy with seizures and variable developmental delay MIM#618501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CACNA2D2",
"entity_type": "gene"
},
{
"created": "2022-03-28T16:42:53.480342+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: CACNA1F.",
"entity_name": "CACNA1F",
"entity_type": "gene"
},
{
"created": "2022-03-28T16:41:46.003705+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CA2 were changed from to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730",
"entity_name": "CA2",
"entity_type": "gene"
},
{
"created": "2022-03-28T16:41:22.813679+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CA2",
"entity_type": "gene"
},
{
"created": "2022-03-28T16:41:03.902541+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "CA2",
"entity_type": "gene"
},
{
"created": "2022-03-28T16:37:42.505260+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.755",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NUBPL as ready",
"entity_name": "NUBPL",
"entity_type": "gene"
},
{
"created": "2022-03-28T16:37:42.495707+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.755",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nubpl has been classified as Green List (High Evidence).",
"entity_name": "NUBPL",
"entity_type": "gene"
},
{
"created": "2022-03-28T16:37:32.153357+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.755",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NUBPL were set to 20818383; 32518176; 23553477; 31917109; 32518176; 31787496; 30897263; 22826544",
"entity_name": "NUBPL",
"entity_type": "gene"
},
{
"created": "2022-03-28T16:35:55.912311+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12152",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: Boderline red/amber\r\n\r\n1 family (the 2nd family reported in PMID:25814141 was found to be distantly related to the one in PMID:12353035)\r\n\r\nMice with targeted T cell and B cell caspase-8 deficiency present normal thymocyte development but a marked decrease in peripheral blood T-cells. Besides, when challenged with the lymphocytic choriomeningitis virus (LCMV), these animals showed a significantly impaired immune response to the infection that included impaired CD8 cell expansion and an abrogated ability to generate virus-specific CD8+ cytotoxic T-cells.; to: Borderline red/amber\r\n\r\n1 family (the 2nd family reported in PMID:25814141 was found to be distantly related to the one in PMID:12353035)\r\n\r\nMice with targeted T cell and B cell caspase-8 deficiency present normal thymocyte development but a marked decrease in peripheral blood T-cells. Besides, when challenged with the lymphocytic choriomeningitis virus (LCMV), these animals showed a significantly impaired immune response to the infection that included impaired CD8 cell expansion and an abrogated ability to generate virus-specific CD8+ cytotoxic T-cells.",
"entity_name": "CASP8",
"entity_type": "gene"
},
{
"created": "2022-03-28T16:30:06.414925+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12152",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CASP8: Rating: RED; Mode of pathogenicity: None; Publications: 12353035, 25814141, 12654726, 17213198, 16148088; Phenotypes: utoimmune lymphoproliferative syndrome, type IIB MIM#607271; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CASP8",
"entity_type": "gene"
},
{
"created": "2022-03-28T16:28:35.883741+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12152",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: ADGRV1 was changed from to None",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2022-03-28T16:28:35.227390+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12152",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ADGRV1 were changed from to ?Febrile seizures, familial, 4 MIM#604352; Usher syndrome, type 2C MIM#60547; Usher syndrome, type 2C, GPR98/PDZD7 digenic MIM#605472",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2022-03-28T16:28:33.165207+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12151",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: ADGRV1 as ready",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2022-03-28T16:28:33.153330+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12151",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: adgrv1 has been classified as Green List (High Evidence).",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2022-03-28T16:28:22.424696+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12151",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADGRV1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2022-03-28T16:19:58.618495+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12150",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ADGRV1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Febrile seizures, familial, 4 MIM#604352, Usher syndrome, type 2C MIM#60547, Usher syndrome, type 2C, GPR98/PDZD7 digenic MIM#605472; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2022-03-28T16:16:31.092809+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12150",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "CASP8",
"entity_type": "gene"
},
{
"created": "2022-03-28T16:16:20.516871+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12150",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "CASP8",
"entity_type": "gene"
},
{
"created": "2022-03-28T16:11:06.170551+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12150",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CASP8: Rating: RED; Mode of pathogenicity: None; Publications: 33356695; Phenotypes: Autoimmune lymphoproliferative syndrome, type IIB MIM#607271; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CASP8",
"entity_type": "gene"
},
{
"created": "2022-03-28T16:10:43.582191+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12150",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ADCY3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 11055432, 29311636, 29311637; Phenotypes: {Obesity, susceptibility to, BMIQ19} MIM#617885; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADCY3",
"entity_type": "gene"
},
{
"created": "2022-03-28T16:01:09.509644+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.754",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NUBPL were changed from to Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242",
"entity_name": "NUBPL",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:59:34.923260+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NUBPL were set to ",
"entity_name": "NUBPL",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:58:50.426197+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NUBPL as ready",
"entity_name": "NUBPL",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:58:50.414887+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nubpl has been classified as Green List (High Evidence).",
"entity_name": "NUBPL",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:58:47.220069+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NUBPL were changed from to Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242",
"entity_name": "NUBPL",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:58:16.154259+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NUBPL were set to ",
"entity_name": "NUBPL",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:56:57.945620+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12150",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CASP10 were changed from Autoimmune lymphoproliferative syndrome, type II MIM#603909 to Autoimmune lymphoproliferative syndrome, type II MIM#603909",
"entity_name": "CASP10",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:56:54.095600+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NUBPL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NUBPL",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:56:49.644660+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12149",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CASP10 were changed from to Autoimmune lymphoproliferative syndrome, type II MIM#603909",
"entity_name": "CASP10",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:56:40.838930+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12149",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CASP10 as ready",
"entity_name": "CASP10",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:56:40.774728+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12149",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: casp10 has been classified as Green List (High Evidence).",
"entity_name": "CASP10",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:56:38.486203+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12149",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CASP10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CASP10",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:56:22.673895+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.752",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NUBPL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NUBPL",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:56:18.431096+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12149",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CASP10 were set to ",
"entity_name": "CASP10",
"entity_type": "gene"
}
]
}