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{
"count": 220324,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=829",
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"results": [
{
"created": "2022-05-20T13:30:30.903403+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GFM2 were set to ",
"entity_name": "GFM2",
"entity_type": "gene"
},
{
"created": "2022-05-20T13:30:03.490359+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14678",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GFM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GFM2",
"entity_type": "gene"
},
{
"created": "2022-05-20T13:29:06.916532+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GIF as ready",
"entity_name": "GIF",
"entity_type": "gene"
},
{
"created": "2022-05-20T13:29:06.902240+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gif has been classified as Green List (High Evidence).",
"entity_name": "GIF",
"entity_type": "gene"
},
{
"created": "2022-05-20T13:28:58.490208+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GIF were changed from to Intrinsic factor deficiency MIM#261000; Disorders of cobalamin absorption, transport and metabolism",
"entity_name": "GIF",
"entity_type": "gene"
},
{
"created": "2022-05-20T13:28:34.809995+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14676",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GIF were set to ",
"entity_name": "GIF",
"entity_type": "gene"
},
{
"created": "2022-05-20T13:28:11.967833+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14675",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GIF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GIF",
"entity_type": "gene"
},
{
"created": "2022-05-20T13:10:03.949308+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14674",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: KATNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25521378, 25521379, 26640080; Phenotypes: Lissencephaly 6, with microcephaly MIM#616212; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KATNB1",
"entity_type": "gene"
},
{
"created": "2022-05-20T13:06:41.295365+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14674",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: PRKAG3 were changed from increased glycogen content in skeletal muscle; [Skeletal muscle glycogen content and metabolism QTL] MIM#619030 to increased glycogen content in skeletal muscle",
"entity_name": "PRKAG3",
"entity_type": "gene"
},
{
"created": "2022-05-20T13:06:27.759440+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14673",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: TIA1 were set to ",
"entity_name": "TIA1",
"entity_type": "gene"
},
{
"created": "2022-05-20T12:38:26.317190+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14672",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: SLC26A1 as ready",
"entity_name": "SLC26A1",
"entity_type": "gene"
},
{
"created": "2022-05-20T12:38:26.299098+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14672",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: slc26a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC26A1",
"entity_type": "gene"
},
{
"created": "2022-05-20T12:38:19.875252+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14672",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: TIA1 were changed from Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia, MIM# 619133; Welander distal myopathy (MIM#604454) to Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia, MIM# 619133; Welander distal myopathy (MIM#604454)",
"entity_name": "TIA1",
"entity_type": "gene"
},
{
"created": "2022-05-20T12:38:03.360934+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14671",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: PRKAG3 were changed from to increased glycogen content in skeletal muscle; [Skeletal muscle glycogen content and metabolism QTL] MIM#619030",
"entity_name": "PRKAG3",
"entity_type": "gene"
},
{
"created": "2022-05-20T12:37:57.186753+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14670",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: PRKAG3 as ready",
"entity_name": "PRKAG3",
"entity_type": "gene"
},
{
"created": "2022-05-20T12:37:57.171987+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14670",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: prkag3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PRKAG3",
"entity_type": "gene"
},
{
"created": "2022-05-20T12:30:35.517152+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GINS1 as ready",
"entity_name": "GINS1",
"entity_type": "gene"
},
{
"created": "2022-05-20T12:30:35.499116+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gins1 has been classified as Green List (High Evidence).",
"entity_name": "GINS1",
"entity_type": "gene"
},
{
"created": "2022-05-20T12:30:22.201406+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GINS1 were set to ",
"entity_name": "GINS1",
"entity_type": "gene"
},
{
"created": "2022-05-20T12:23:04.423522+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14669",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: PRKAG3 were set to ",
"entity_name": "PRKAG3",
"entity_type": "gene"
},
{
"created": "2022-05-20T12:22:57.555939+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14668",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRKAG3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "PRKAG3",
"entity_type": "gene"
},
{
"created": "2022-05-20T12:22:43.991514+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14667",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: U2AF2 as ready",
"entity_name": "U2AF2",
"entity_type": "gene"
},
{
"created": "2022-05-20T12:22:43.976679+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14667",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: u2af2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "U2AF2",
"entity_type": "gene"
},
{
"created": "2022-05-20T12:22:36.303221+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14667",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: TDP1 as ready",
"entity_name": "TDP1",
"entity_type": "gene"
},
{
"created": "2022-05-20T12:22:36.291071+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14667",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: tdp1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TDP1",
"entity_type": "gene"
},
{
"created": "2022-05-20T12:22:09.461224+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14667",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: TIA1 were changed from to Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia, MIM# 619133; Welander distal myopathy (MIM#604454)",
"entity_name": "TIA1",
"entity_type": "gene"
},
{
"created": "2022-05-20T12:21:58.731035+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14666",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: TIA1 as ready",
"entity_name": "TIA1",
"entity_type": "gene"
},
{
"created": "2022-05-20T12:21:58.691917+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14666",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: tia1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TIA1",
"entity_type": "gene"
},
{
"created": "2022-05-20T12:07:29.936864+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14666",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: PLD3 as ready",
"entity_name": "PLD3",
"entity_type": "gene"
},
{
"created": "2022-05-20T12:07:29.921846+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14666",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: pld3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PLD3",
"entity_type": "gene"
},
{
"created": "2022-05-20T12:02:50.905305+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14666",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: RBM7 as ready",
"entity_name": "RBM7",
"entity_type": "gene"
},
{
"created": "2022-05-20T12:02:50.893021+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14666",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: rbm7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RBM7",
"entity_type": "gene"
},
{
"created": "2022-05-20T11:44:52.652927+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14666",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: MFAP5 as ready",
"entity_name": "MFAP5",
"entity_type": "gene"
},
{
"created": "2022-05-20T11:44:52.639653+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14666",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mfap5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MFAP5",
"entity_type": "gene"
},
{
"created": "2022-05-20T11:44:21.009137+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14666",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: MMGT1 as ready",
"entity_name": "MMGT1",
"entity_type": "gene"
},
{
"created": "2022-05-20T11:44:20.983905+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14666",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mmgt1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MMGT1",
"entity_type": "gene"
},
{
"created": "2022-05-20T11:21:53.602282+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14666",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked STR: FRA12A as ready",
"entity_name": "FRA12A",
"entity_type": "str"
},
{
"created": "2022-05-20T11:21:53.588432+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14666",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Str: fra12a has been classified as Amber List (Moderate Evidence).",
"entity_name": "FRA12A",
"entity_type": "str"
},
{
"created": "2022-05-20T11:20:54.380593+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14666",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: GIGYF2 as ready",
"entity_name": "GIGYF2",
"entity_type": "gene"
},
{
"created": "2022-05-20T11:20:54.367867+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14666",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: gigyf2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GIGYF2",
"entity_type": "gene"
},
{
"created": "2022-05-20T11:18:10.161312+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14666",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for STR: FRA12A were changed from Mental retardation, FRA12A type MIM#136630 to Intellectual developmental disorder, autosomal dominant, FRA12A type MIM#136630",
"entity_name": "FRA12A",
"entity_type": "str"
},
{
"created": "2022-05-20T11:17:26.703995+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14665",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: MEPE as ready",
"entity_name": "MEPE",
"entity_type": "gene"
},
{
"created": "2022-05-20T11:17:26.689854+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14665",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mepe has been classified as Amber List (Moderate Evidence).",
"entity_name": "MEPE",
"entity_type": "gene"
},
{
"created": "2022-05-20T11:16:53.413670+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14665",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: LRIF1 as ready",
"entity_name": "LRIF1",
"entity_type": "gene"
},
{
"created": "2022-05-20T11:16:53.401104+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14665",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: lrif1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LRIF1",
"entity_type": "gene"
},
{
"created": "2022-05-20T11:15:23.986787+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14665",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: GIGYF2 were changed from to {Parkinson disease 11} MIM#607688",
"entity_name": "GIGYF2",
"entity_type": "gene"
},
{
"created": "2022-05-20T11:15:14.270227+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14664",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: GIGYF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "GIGYF2",
"entity_type": "gene"
},
{
"created": "2022-05-20T11:13:03.453598+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14663",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: DMGDH as ready",
"entity_name": "DMGDH",
"entity_type": "gene"
},
{
"created": "2022-05-20T11:13:03.440888+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14663",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: dmgdh has been classified as Amber List (Moderate Evidence).",
"entity_name": "DMGDH",
"entity_type": "gene"
},
{
"created": "2022-05-20T11:01:03.133049+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14663",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: DMGDH were changed from to Dimethylglycine dehydrogenase deficiency MIM#605850; Disorders and variants of other enzymes that oxidise xenobiotics",
"entity_name": "DMGDH",
"entity_type": "gene"
},
{
"created": "2022-05-20T11:00:57.479695+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14663",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: DMGDH were set to ",
"entity_name": "DMGDH",
"entity_type": "gene"
},
{
"created": "2022-05-20T11:00:30.176295+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14662",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: DCAF8 as ready",
"entity_name": "DCAF8",
"entity_type": "gene"
},
{
"created": "2022-05-20T11:00:30.162091+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14662",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: dcaf8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DCAF8",
"entity_type": "gene"
},
{
"created": "2022-05-20T10:59:05.498656+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14662",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: CCT5 as ready",
"entity_name": "CCT5",
"entity_type": "gene"
},
{
"created": "2022-05-20T10:59:05.484145+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14662",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: cct5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CCT5",
"entity_type": "gene"
},
{
"created": "2022-05-20T10:50:10.331824+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14662",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: ATG5 as ready",
"entity_name": "ATG5",
"entity_type": "gene"
},
{
"created": "2022-05-20T10:50:10.319137+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14662",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: atg5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATG5",
"entity_type": "gene"
},
{
"created": "2022-05-20T10:49:29.969934+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14662",
"user_name": "Abhijit Kulkarni",
"item_type": "entity",
"text": "reviewed gene: LYZ: Rating: GREEN; Mode of pathogenicity: None; Publications: 1808634 8464497 15745733; Phenotypes: Amyloidosis, renal (MIM: 105200); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LYZ",
"entity_type": "gene"
},
{
"created": "2022-05-20T10:47:40.027482+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14662",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: USP8 as ready",
"entity_name": "USP8",
"entity_type": "gene"
},
{
"created": "2022-05-20T10:47:40.014653+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14662",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: usp8 has been classified as Green List (High Evidence).",
"entity_name": "USP8",
"entity_type": "gene"
},
{
"created": "2022-05-20T10:41:30.801308+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14662",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: LRP5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Exudative vitreoretinopathy 4 - MIM#601813 (AD, AR), Hyperostosis, endosteal - MIM#144750 (AD), Osteopetrosis, autosomal dominant 1 - MIM#607634(AD), Osteoporosis-pseudoglioma syndrome - MIM#259770 (AR), Osteosclerosis - #144750 (AD), Polycystic liver disease 4 with or without kidney cysts - MIM#617875 (AD), van Buchem disease, type 2 - MIM#607636; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2022-05-20T10:39:30.184556+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14662",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: MSX1 were changed from Witkop syndrome (Ectodermal Dysplasia) (MIM: 189500),Cleft Lip+/- Cleft Palate (Rofacial Cleft- MIM :608874), Oligodontia to Witkop syndrome (Ectodermal Dysplasia) (MIM: 189500),Cleft Lip+/- Cleft Palate (Rofacial Cleft- MIM :608874), Oligodontia",
"entity_name": "MSX1",
"entity_type": "gene"
},
{
"created": "2022-05-20T10:39:21.610010+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14661",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: MSX1 were set to 33419968, 33708320, 32192766",
"entity_name": "MSX1",
"entity_type": "gene"
},
{
"created": "2022-05-20T10:38:30.999935+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14660",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: LRP6: Rating: GREEN; Mode of pathogenicity: None; Publications: 26387593; Phenotypes: Tooth agenesis, selective, 7 - MIM#616724; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LRP6",
"entity_type": "gene"
},
{
"created": "2022-05-20T10:36:35.444796+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14660",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: LYRM7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 8 - MIM#615838; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LYRM7",
"entity_type": "gene"
},
{
"created": "2022-05-20T10:35:42.870418+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14660",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chediak-Higashi syndrome - MIM#214500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2022-05-20T10:35:40.526976+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14660",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: MSX1 were changed from to Witkop syndrome (Ectodermal Dysplasia) (MIM: 189500),Cleft Lip+/- Cleft Palate (Rofacial Cleft- MIM :608874), Oligodontia",
"entity_name": "MSX1",
"entity_type": "gene"
},
{
"created": "2022-05-20T10:35:35.441997+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14659",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: MSX1 were set to ",
"entity_name": "MSX1",
"entity_type": "gene"
},
{
"created": "2022-05-20T10:35:28.612498+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14659",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: MSX1 as ready",
"entity_name": "MSX1",
"entity_type": "gene"
},
{
"created": "2022-05-20T10:35:28.593102+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14659",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: msx1 has been classified as Green List (High Evidence).",
"entity_name": "MSX1",
"entity_type": "gene"
},
{
"created": "2022-05-20T10:35:23.290745+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14659",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: MSX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "MSX1",
"entity_type": "gene"
},
{
"created": "2022-05-20T10:34:31.498524+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14658",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: LYZ: Rating: GREEN; Mode of pathogenicity: None; Publications: 1808634, 8464497, 15745733,; Phenotypes: Amyloidosis, renal - MIM#105200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LYZ",
"entity_type": "gene"
},
{
"created": "2022-05-20T10:29:17.026011+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14658",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GINS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GINS1",
"entity_type": "gene"
},
{
"created": "2022-05-20T10:28:31.283750+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14657",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GJA1 as ready",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2022-05-20T10:28:31.270102+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14657",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gja1 has been classified as Green List (High Evidence).",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2022-05-20T10:28:22.127818+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14657",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GJA1 were changed from to Oculodentodigital dysplasia, autosomal recessive, MIM# 257850; Oculodentodigital dysplasia, MIM# 164200",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2022-05-20T10:27:59.749192+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14656",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GJA1 were set to ",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2022-05-20T10:27:37.778247+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GJA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2022-05-20T10:26:39.232117+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GJA5 as ready",
"entity_name": "GJA5",
"entity_type": "gene"
},
{
"created": "2022-05-20T10:26:39.206213+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gja5 has been classified as Green List (High Evidence).",
"entity_name": "GJA5",
"entity_type": "gene"
},
{
"created": "2022-05-20T10:26:29.879548+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GJA5 were changed from to Atrial fibrillation, familial, 11, OMIM# 614049",
"entity_name": "GJA5",
"entity_type": "gene"
},
{
"created": "2022-05-20T10:26:07.460798+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14653",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GJA5 were set to ",
"entity_name": "GJA5",
"entity_type": "gene"
},
{
"created": "2022-05-20T10:25:35.144936+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GJA5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GJA5",
"entity_type": "gene"
},
{
"created": "2022-05-20T09:59:15.896336+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.204",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: LRP2 as Green List (high evidence)",
"entity_name": "LRP2",
"entity_type": "gene"
},
{
"created": "2022-05-20T09:59:15.884518+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.204",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: lrp2 has been classified as Green List (High Evidence).",
"entity_name": "LRP2",
"entity_type": "gene"
},
{
"created": "2022-05-20T09:58:53.883585+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.136",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: LRP2 as Green List (high evidence)",
"entity_name": "LRP2",
"entity_type": "gene"
},
{
"created": "2022-05-20T09:58:53.867779+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.203",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: LRP2 as Green List (high evidence)",
"entity_name": "LRP2",
"entity_type": "gene"
},
{
"created": "2022-05-20T09:58:53.865148+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.136",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: lrp2 has been classified as Green List (High Evidence).",
"entity_name": "LRP2",
"entity_type": "gene"
},
{
"created": "2022-05-20T09:58:53.851645+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.203",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: lrp2 has been classified as Green List (High Evidence).",
"entity_name": "LRP2",
"entity_type": "gene"
},
{
"created": "2022-05-20T09:58:30.984199+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.203",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: LRP2 as Green List (high evidence)",
"entity_name": "LRP2",
"entity_type": "gene"
},
{
"created": "2022-05-20T09:58:30.971618+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.203",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: lrp2 has been classified as Green List (High Evidence).",
"entity_name": "LRP2",
"entity_type": "gene"
},
{
"created": "2022-05-20T09:58:03.387928+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.135",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: LRP2 as Green List (high evidence)",
"entity_name": "LRP2",
"entity_type": "gene"
},
{
"created": "2022-05-20T09:58:03.375005+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.135",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: lrp2 has been classified as Green List (High Evidence).",
"entity_name": "LRP2",
"entity_type": "gene"
},
{
"created": "2022-05-20T09:57:59.484785+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.202",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: LRP2 was added\ngene: LRP2 was added to Proteinuria. Sources: Expert list\nMode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LRP2 were set to PMID: 17632512\nPhenotypes for gene: LRP2 were set to Donnai-Barrow syndrome, MIM#222448\nReview for gene: LRP2 was set to GREEN\nAdded comment: Donnai-Barrow syndrome (DBS) was first described as a distinct disorder characterized by diaphragmatic hernia, exomphalos, absent corpus callosum, myopia, agenesis of the corpus callosum and proteinuria, and sensorineural deafness. \r\n\r\n Kantarci et al. (2007) identified biallelic LRP2 mutations in 6 families with Donnai-Barrow syndrome and one family with facio-oculo-acoustico-renal syndrome. \nSources: Expert list",
"entity_name": "LRP2",
"entity_type": "gene"
},
{
"created": "2022-05-20T09:57:44.809173+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14651",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "commented on gene: LRP2: Donnai-Barrow syndrome (DBS) was first described as a distinct disorder characterized by diaphragmatic hernia, exomphalos, absent corpus callosum, myopia, agenesis of the corpus callosum and proteinuria, and sensorineural deafness. \r\n\r\n Kantarci et al. (2007) identified biallelic LRP2 mutations in 6 families with Donnai-Barrow syndrome and one family with facio-oculo-acoustico-renal syndrome.",
"entity_name": "LRP2",
"entity_type": "gene"
},
{
"created": "2022-05-20T09:57:37.429029+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14651",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: LRP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17632512; Phenotypes: Donnai-Barrow syndrome, MIM#222448; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LRP2",
"entity_type": "gene"
},
{
"created": "2022-05-20T09:57:29.872703+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.135",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: LRP2 as Green List (high evidence)",
"entity_name": "LRP2",
"entity_type": "gene"
},
{
"created": "2022-05-20T09:57:29.860973+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.135",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: lrp2 has been classified as Green List (High Evidence).",
"entity_name": "LRP2",
"entity_type": "gene"
},
{
"created": "2022-05-20T09:56:59.230615+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.134",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: LRP2 was added\ngene: LRP2 was added to Deafness_IsolatedAndComplex. Sources: Expert list\nMode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LRP2 were set to PMID: 17632512\nPhenotypes for gene: LRP2 were set to Donnai-Barrow syndrome, MIM#222448\nReview for gene: LRP2 was set to GREEN\nAdded comment: Donnai-Barrow syndrome (DBS) was first described as a distinct disorder characterized by diaphragmatic hernia, exomphalos, absent corpus callosum, myopia, agenesis of the corpus callosum and proteinuria, and sensorineural deafness. \r\n\r\n Kantarci et al. (2007) identified biallelic LRP2 mutations in 6 families with Donnai-Barrow syndrome and one family with facio-oculo-acoustico-renal syndrome. \nSources: Expert list",
"entity_name": "LRP2",
"entity_type": "gene"
},
{
"created": "2022-05-20T09:55:34.717877+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.21",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: LRP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17632512; Phenotypes: Donnai-Barrow syndrome, MIM#222448; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LRP2",
"entity_type": "gene"
}
]
}