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{
"count": 220324,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=917",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=915",
"results": [
{
"created": "2022-03-25T08:40:03.944086+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NONO were set to ",
"entity_name": "NONO",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:39:27.740508+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4599",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NONO was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NONO",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:38:44.346101+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NONO as ready",
"entity_name": "NONO",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:38:44.334304+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nono has been classified as Green List (High Evidence).",
"entity_name": "NONO",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:38:38.508073+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NONO as Green List (high evidence)",
"entity_name": "NONO",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:38:38.498563+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nono has been classified as Green List (High Evidence).",
"entity_name": "NONO",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:37:44.798200+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NOL3 as ready",
"entity_name": "NOL3",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:37:44.787172+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nol3 has been classified as Red List (Low Evidence).",
"entity_name": "NOL3",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:37:42.110013+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NOL3 were changed from to Myoclonus, familial, 1 - MIM#614937",
"entity_name": "NOL3",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:37:18.948776+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NOL3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NOL3",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:36:57.870354+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NOL3 were set to ",
"entity_name": "NOL3",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:36:05.781873+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NOL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NOL3",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:35:15.342072+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NOL3 as Red List (low evidence)",
"entity_name": "NOL3",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:35:15.330235+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nol3 has been classified as Red List (Low Evidence).",
"entity_name": "NOL3",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:34:21.618917+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11884",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NOL3 as ready",
"entity_name": "NOL3",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:34:21.609864+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11884",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nol3 has been classified as Red List (Low Evidence).",
"entity_name": "NOL3",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:34:09.033514+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11884",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NOL3 were changed from to Myoclonus, familial, 1 MIM#614937",
"entity_name": "NOL3",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:33:39.723357+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NOL3 were set to ",
"entity_name": "NOL3",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:33:19.274712+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11882",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NOL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NOL3",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:33:01.070895+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11881",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NOL3 as Red List (low evidence)",
"entity_name": "NOL3",
"entity_type": "gene"
},
{
"created": "2022-03-25T08:33:01.049762+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11881",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nol3 has been classified as Red List (Low Evidence).",
"entity_name": "NOL3",
"entity_type": "gene"
},
{
"created": "2022-03-24T20:37:04.124137+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11880",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NOG as ready",
"entity_name": "NOG",
"entity_type": "gene"
},
{
"created": "2022-03-24T20:37:04.113183+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11880",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nog has been classified as Green List (High Evidence).",
"entity_name": "NOG",
"entity_type": "gene"
},
{
"created": "2022-03-24T20:36:48.574554+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11880",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NOG were changed from to Brachydactyly, type B2 - MIM#611377; Multiple synostoses syndrome 1 (MIM#186500); Stapes ankylosis with broad thumbs and toes (MIM#184460); Symphalangism, proximal, 1A (MIM#185800); Tarsal-carpal coalition syndrome (MIM#186570)",
"entity_name": "NOG",
"entity_type": "gene"
},
{
"created": "2022-03-24T20:36:16.707537+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11879",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NOG were set to ",
"entity_name": "NOG",
"entity_type": "gene"
},
{
"created": "2022-03-24T20:30:40.399369+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11878",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NOG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NOG",
"entity_type": "gene"
},
{
"created": "2022-03-24T20:29:46.562816+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11877",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NNT as ready",
"entity_name": "NNT",
"entity_type": "gene"
},
{
"created": "2022-03-24T20:29:46.551662+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11877",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nnt has been classified as Green List (High Evidence).",
"entity_name": "NNT",
"entity_type": "gene"
},
{
"created": "2022-03-24T20:29:36.543584+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11877",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NNT were changed from to Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency - MIM#614736",
"entity_name": "NNT",
"entity_type": "gene"
},
{
"created": "2022-03-24T20:29:17.725319+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NNT were set to ",
"entity_name": "NNT",
"entity_type": "gene"
},
{
"created": "2022-03-24T20:28:19.311815+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11875",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NNT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NNT",
"entity_type": "gene"
},
{
"created": "2022-03-24T17:45:52.813290+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11874",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NLRP7 as ready",
"entity_name": "NLRP7",
"entity_type": "gene"
},
{
"created": "2022-03-24T17:45:52.800115+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11874",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nlrp7 has been classified as Green List (High Evidence).",
"entity_name": "NLRP7",
"entity_type": "gene"
},
{
"created": "2022-03-24T17:45:44.923046+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11874",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NLRP7 were changed from to Hydatidiform mole, recurrent, 1 - MIM#231090",
"entity_name": "NLRP7",
"entity_type": "gene"
},
{
"created": "2022-03-24T17:45:09.527853+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11873",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NLRP7 were set to ",
"entity_name": "NLRP7",
"entity_type": "gene"
},
{
"created": "2022-03-24T16:47:16.503808+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11872",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NLRP7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NLRP7",
"entity_type": "gene"
},
{
"created": "2022-03-24T14:59:45.168203+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NLRP12 as ready",
"entity_name": "NLRP12",
"entity_type": "gene"
},
{
"created": "2022-03-24T14:59:45.156242+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nlrp12 has been classified as Green List (High Evidence).",
"entity_name": "NLRP12",
"entity_type": "gene"
},
{
"created": "2022-03-24T14:59:22.330734+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NLRP12 were changed from to Familial cold autoinflammatory syndrome 2 - MIM#611762",
"entity_name": "NLRP12",
"entity_type": "gene"
},
{
"created": "2022-03-24T14:56:14.036361+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NLRP12 were set to ",
"entity_name": "NLRP12",
"entity_type": "gene"
},
{
"created": "2022-03-24T14:55:45.507320+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11869",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NLRP12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NLRP12",
"entity_type": "gene"
},
{
"created": "2022-03-24T14:55:14.479165+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NLRP12 as ready",
"entity_name": "NLRP12",
"entity_type": "gene"
},
{
"created": "2022-03-24T14:55:14.464220+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nlrp12 has been classified as Green List (High Evidence).",
"entity_name": "NLRP12",
"entity_type": "gene"
},
{
"created": "2022-03-24T14:55:07.870715+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NLRP12 were changed from to Familial cold autoinflammatory syndrome 2 - MIM#611762",
"entity_name": "NLRP12",
"entity_type": "gene"
},
{
"created": "2022-03-24T14:54:34.236196+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NLRP12 were set to ",
"entity_name": "NLRP12",
"entity_type": "gene"
},
{
"created": "2022-03-24T14:53:59.053134+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NLRP12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NLRP12",
"entity_type": "gene"
},
{
"created": "2022-03-24T14:33:38.410466+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11868",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: TCF20: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 34904221, 30739909, 30819258, 25228304; Phenotypes: Developmental delay with variable intellectual impairment and behavioral abnormalities MIM#618430; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "TCF20",
"entity_type": "gene"
},
{
"created": "2022-03-24T13:13:22.407965+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1504",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POU3F3 as ready",
"entity_name": "POU3F3",
"entity_type": "gene"
},
{
"created": "2022-03-24T13:13:22.397957+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1504",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pou3f3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "POU3F3",
"entity_type": "gene"
},
{
"created": "2022-03-24T13:12:43.761392+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1504",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POU3F3 as Amber List (moderate evidence)",
"entity_name": "POU3F3",
"entity_type": "gene"
},
{
"created": "2022-03-24T13:12:43.746873+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1504",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pou3f3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "POU3F3",
"entity_type": "gene"
},
{
"created": "2022-03-24T12:18:04.922452+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4598",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: LAS1L as Green List (high evidence)",
"entity_name": "LAS1L",
"entity_type": "gene"
},
{
"created": "2022-03-24T12:18:04.914008+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4598",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: las1l has been classified as Green List (High Evidence).",
"entity_name": "LAS1L",
"entity_type": "gene"
},
{
"created": "2022-03-24T12:17:13.999958+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4597",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Publications for gene: LAS1L were set to 25644381; 26358559",
"entity_name": "LAS1L",
"entity_type": "gene"
},
{
"created": "2022-03-24T12:16:47.492633+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4596",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: LAS1L as Green List (high evidence)",
"entity_name": "LAS1L",
"entity_type": "gene"
},
{
"created": "2022-03-24T12:16:47.488171+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4596",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Additional patient reported in literature",
"entity_name": "LAS1L",
"entity_type": "gene"
},
{
"created": "2022-03-24T12:16:47.456916+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4596",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: las1l has been classified as Green List (High Evidence).",
"entity_name": "LAS1L",
"entity_type": "gene"
},
{
"created": "2022-03-24T12:13:01.291472+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11868",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: LAS1L as ready",
"entity_name": "LAS1L",
"entity_type": "gene"
},
{
"created": "2022-03-24T12:13:01.277918+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11868",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: las1l has been classified as Green List (High Evidence).",
"entity_name": "LAS1L",
"entity_type": "gene"
},
{
"created": "2022-03-24T12:08:37.915944+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11868",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Publications for gene: LAS1L were set to ",
"entity_name": "LAS1L",
"entity_type": "gene"
},
{
"created": "2022-03-24T12:07:50.727237+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11867",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Mode of inheritance for gene: LAS1L was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "LAS1L",
"entity_type": "gene"
},
{
"created": "2022-03-24T12:06:58.753028+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11866",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: LAS1L were changed from to Wilson-Turner syndrome, MIM# 309585",
"entity_name": "LAS1L",
"entity_type": "gene"
},
{
"created": "2022-03-24T12:06:14.195266+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11865",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "edited their review of gene: LAS1L: Changed publications: 25644381, 34653234, 26358559",
"entity_name": "LAS1L",
"entity_type": "gene"
},
{
"created": "2022-03-24T12:05:21.175544+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11865",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "changed review comment from: 3 unrelated individuals reported; to: 3 unrelated individuals reported",
"entity_name": "LAS1L",
"entity_type": "gene"
},
{
"created": "2022-03-24T12:04:55.383345+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11865",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "changed review comment from: 3 unrelated individuals reported; to: 3 unrelated individuals reported",
"entity_name": "LAS1L",
"entity_type": "gene"
},
{
"created": "2022-03-24T11:59:50.770669+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11865",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: LAS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 25644381, 34653234, 25644381; Phenotypes: Wilson-Turner syndrome, MIM# 309585; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "LAS1L",
"entity_type": "gene"
},
{
"created": "2022-03-24T11:45:40.362426+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11865",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: LARGE1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6, MIM# 613154; Muscular dystrophy-dystroglycanopathy type B6, MIM# 608840",
"entity_name": "LARGE1",
"entity_type": "gene"
},
{
"created": "2022-03-24T11:45:38.161180+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11864",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: LARGE1 as ready",
"entity_name": "LARGE1",
"entity_type": "gene"
},
{
"created": "2022-03-24T11:45:38.152023+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11864",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: large1 has been classified as Green List (High Evidence).",
"entity_name": "LARGE1",
"entity_type": "gene"
},
{
"created": "2022-03-24T11:44:13.430476+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11864",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: LARGE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12966029, 19067344, 17436019, 21248746; Phenotypes: Muscular dystrophy-dystroglycanopathy type A6, MIM# 613154, Muscular dystrophy-dystroglycanopathy type B6, MIM# 608840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "LARGE1",
"entity_type": "gene"
},
{
"created": "2022-03-24T11:25:04.262722+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11864",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: LAMC3 as ready",
"entity_name": "LAMC3",
"entity_type": "gene"
},
{
"created": "2022-03-24T11:25:04.250499+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11864",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: lamc3 has been classified as Green List (High Evidence).",
"entity_name": "LAMC3",
"entity_type": "gene"
},
{
"created": "2022-03-24T11:24:46.949396+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11864",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: LAMC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21572413, 34354730; Phenotypes: Cortical malformations, occipital, MIM#614115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "LAMC3",
"entity_type": "gene"
},
{
"created": "2022-03-24T11:09:48.715270+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11864",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: LAMB2 as ready",
"entity_name": "LAMB2",
"entity_type": "gene"
},
{
"created": "2022-03-24T11:09:48.703433+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11864",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: lamb2 has been classified as Green List (High Evidence).",
"entity_name": "LAMB2",
"entity_type": "gene"
},
{
"created": "2022-03-24T11:09:14.299566+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11864",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "changed review comment from: Pierson syndrome (PIERS) is an autosomal recessive disorder comprising congenital nephrotic syndrome with diffuse mesangial sclerosis and distinct ocular abnormalities, including microcoria and hypoplasia of the ciliary and pupillary muscles, as well as other anomalies. Many patients die early, and those who survive tend to show neurodevelopmental delay and visual loss.\r\n\r\nNephrotic syndrome type 5 is an autosomal recessive disorder characterized by very early onset of progressive renal failure manifest as proteinuria with consecutive edema starting in utero or within the first 3 months of life. A subset of patients may develop mild ocular anomalies, such as myopia, nystagmus, and strabismus.\r\n\r\nThe two disorders are likely part of a spectrum. More than 5 unrelated families reported. ; to: Pierson syndrome (PIERS) is an autosomal recessive disorder comprising congenital nephrotic syndrome with diffuse mesangial sclerosis and distinct ocular abnormalities, including microcoria and hypoplasia of the ciliary and pupillary muscles, as well as other anomalies. Many patients die early, and those who survive tend to show neurodevelopmental delay and visual loss.\r\n\r\nNephrotic syndrome type 5 is an autosomal recessive disorder characterized by very early onset of progressive renal failure manifest as proteinuria with consecutive edema starting in utero or within the first 3 months of life. A subset of patients may develop mild ocular anomalies, such as myopia, nystagmus, and strabismus.\r\n\r\nMore than 5 unrelated families reported. ",
"entity_name": "LAMB2",
"entity_type": "gene"
},
{
"created": "2022-03-24T11:08:49.923304+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11864",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "changed review comment from: Pierson syndrome (PIERS) is an autosomal recessive disorder comprising congenital nephrotic syndrome with diffuse mesangial sclerosis and distinct ocular abnormalities, including microcoria and hypoplasia of the ciliary and pupillary muscles, as well as other anomalies. Many patients die early, and those who survive tend to show neurodevelopmental delay and visual loss.\r\n\r\nNephrotic syndrome type 5 is an autosomal recessive disorder characterized by very early onset of progressive renal failure manifest as proteinuria with consecutive edema starting in utero or within the first 3 months of life. A subset of patients may develop mild ocular anomalies, such as myopia, nystagmus, and strabismus.; to: Pierson syndrome (PIERS) is an autosomal recessive disorder comprising congenital nephrotic syndrome with diffuse mesangial sclerosis and distinct ocular abnormalities, including microcoria and hypoplasia of the ciliary and pupillary muscles, as well as other anomalies. Many patients die early, and those who survive tend to show neurodevelopmental delay and visual loss.\r\n\r\nNephrotic syndrome type 5 is an autosomal recessive disorder characterized by very early onset of progressive renal failure manifest as proteinuria with consecutive edema starting in utero or within the first 3 months of life. A subset of patients may develop mild ocular anomalies, such as myopia, nystagmus, and strabismus.\r\n\r\nThe two disorders are likely part of a spectrum. More than 5 unrelated families reported. ",
"entity_name": "LAMB2",
"entity_type": "gene"
},
{
"created": "2022-03-24T11:07:55.678273+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11864",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: LAMB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 14136829, 15372515, 17256789; Phenotypes: Pierson syndrome, MIM# 609049, Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMB2",
"entity_type": "gene"
},
{
"created": "2022-03-24T10:48:38.013669+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.229",
"user_name": "Abhijit Kulkarni",
"item_type": "entity",
"text": "reviewed gene: SMPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33082562; Phenotypes: Niemann-Pick disease, type A, MIM# 257200, MONDO:0009756; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SMPD1",
"entity_type": "gene"
},
{
"created": "2022-03-24T10:43:51.276335+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11864",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: L1CAM as ready",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2022-03-24T10:43:51.262929+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11864",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: l1cam has been classified as Green List (High Evidence).",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2022-03-24T10:30:00.565583+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11864",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: L1CAM were changed from to Hydrocephalus due to aqueductal stenosis, MIM# 307000; MASA syndrome, MIM# 303350; L1 syndrome, MONDO:0017140",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2022-03-24T10:27:23.948159+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11863",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 11438988, 7920660, 8401593, 19565280; Phenotypes: Hydrocephalus due to aqueductal stenosis, MIM# 307000, MASA syndrome, MIM# 303350; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2022-03-24T10:19:00.283476+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11863",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRIM63 were changed from Hypertrophic cardiomyopathy to Hypertrophic cardiomyopathy, MONDO:0005045",
"entity_name": "TRIM63",
"entity_type": "gene"
},
{
"created": "2022-03-24T10:18:35.661220+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TRIM63: Changed rating: GREEN; Changed phenotypes: Hypertrophic cardiomyopathy, MONDO:0005045; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRIM63",
"entity_type": "gene"
},
{
"created": "2022-03-24T10:18:17.966365+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRIM63 were changed from Hypertrophic cardiomyopathy to Hypertrophic cardiomyopathy, MONDO:0005045",
"entity_name": "TRIM63",
"entity_type": "gene"
},
{
"created": "2022-03-24T10:16:58.070612+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYOM1 were changed from Hypertrophic cardiomyopathy to Hypertrophic cardiomyopathy, MONDO:0005045",
"entity_name": "MYOM1",
"entity_type": "gene"
},
{
"created": "2022-03-24T10:16:37.849252+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYOM1 as Red List (low evidence)",
"entity_name": "MYOM1",
"entity_type": "gene"
},
{
"created": "2022-03-24T10:16:37.837252+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myom1 has been classified as Red List (Low Evidence).",
"entity_name": "MYOM1",
"entity_type": "gene"
},
{
"created": "2022-03-24T10:16:12.399920+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MYOM1: Changed rating: RED; Changed phenotypes: Hypertrophic cardiomyopathy, MONDO:0005045",
"entity_name": "MYOM1",
"entity_type": "gene"
},
{
"created": "2022-03-24T10:15:31.863374+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYOM1 were changed from Hypertrophic cardiomyopathy to Hypertrophic cardiomyopathy, MONDO:0005045",
"entity_name": "MYOM1",
"entity_type": "gene"
},
{
"created": "2022-03-24T10:07:02.666327+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1503",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NPRL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27173016, 26285051, 33461085; Phenotypes: Epilepsy, familial focal, with variable foci 3- MIM#617118; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NPRL3",
"entity_type": "gene"
},
{
"created": "2022-03-24T10:06:57.206287+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11860",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NPRL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27173016, 26285051, 33461085; Phenotypes: Epilepsy, familial focal, with variable foci 3- MIM#617118; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NPRL3",
"entity_type": "gene"
},
{
"created": "2022-03-24T10:04:19.642503+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11860",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NPPC: Rating: RED; Mode of pathogenicity: None; Publications: 28661490, 32528716; Phenotypes: short stature and non-specific skeletal anomalies - MONDO#0014551; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NPPC",
"entity_type": "gene"
},
{
"created": "2022-03-24T09:32:06.253801+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.222",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NOTCH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16773578, 21378985, 21378989; Phenotypes: Alagille syndrome 2 (MIM#610205), Hajdu-Cheney syndrome (MIM#102500); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2022-03-24T09:32:01.596020+11:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.74",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NOTCH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16773578, 21378985, 21378989; Phenotypes: Alagille syndrome 2 (MIM#610205), Hajdu-Cheney syndrome (MIM#102500); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2022-03-24T09:30:21.096485+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.200",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NOTCH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16773578, 21378985, 21378989; Phenotypes: Alagille syndrome 2 (MIM#610205), Hajdu-Cheney syndrome (MIM#102500); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2022-03-24T09:30:17.974377+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.109",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NOTCH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16773578, 21378985, 21378989; Phenotypes: Alagille syndrome 2 (MIM#610205), Hajdu-Cheney syndrome (MIM#102500); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2022-03-24T09:30:14.869080+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11860",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NOTCH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16773578, 21378985, 21378989; Phenotypes: Alagille syndrome 2 (MIM#610205), Hajdu-Cheney syndrome (MIM#102500); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2022-03-24T09:26:11.301775+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11860",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NOTCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25963545, 25132448; Phenotypes: Adams-Oliver syndrome 5 (MIM#616028); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NOTCH1",
"entity_type": "gene"
}
]
}