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{
"count": 220313,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=864",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=862",
"results": [
{
"created": "2022-05-03T16:27:37.116164+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HESX1 as ready",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2022-05-03T16:27:37.096162+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hesx1 has been classified as Green List (High Evidence).",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2022-05-03T16:27:28.052984+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HESX1 were changed from to Growth hormone deficiency with pituitary anomalies, MIM#182230; Pituitary hormone deficiency, combined, 5, MIM#182230; Septooptic dysplasia, MIM#182230",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2022-05-03T16:26:46.353510+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HESX1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2022-05-03T16:26:23.247650+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HESX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Growth hormone deficiency with pituitary anomalies, MIM#182230, Pituitary hormone deficiency, combined, 5, MIM#182230, Septooptic dysplasia, MIM#182230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2022-05-03T09:45:48.662775+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4721",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHD8 were changed from {Autism, susceptibility to, 18} 615032; CHD8-related neurodevelopmental syndrome to {Autism, susceptibility to, 18} 615032; Neurodevelopmental disorder, MONDO:0700092, CHD8-associated",
"entity_name": "CHD8",
"entity_type": "gene"
},
{
"created": "2022-05-03T09:44:32.361157+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4720",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CHD8: Changed phenotypes: {Autism, susceptibility to, 18} 615032, Neurodevelopmental disorder, MONDO:0700092, CHD8-associated",
"entity_name": "CHD8",
"entity_type": "gene"
},
{
"created": "2022-05-03T09:43:51.435487+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHD8 were changed from {Autism, susceptibility to, 18} 615032; CHD8-related neurodevelopmental syndrome to {Autism, susceptibility to, 18} 615032; Neurodevelopmental disorder, MONDO:0700092, CHD8-associated",
"entity_name": "CHD8",
"entity_type": "gene"
},
{
"created": "2022-05-03T09:43:14.932365+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CHD8: Changed phenotypes: {Autism, susceptibility to, 18} 615032, Neurodevelopmental disorder, MONDO:0700092, CHD8-associated",
"entity_name": "CHD8",
"entity_type": "gene"
},
{
"created": "2022-05-03T09:42:44.975326+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHD8 were changed from {Autism, susceptibility to, 18} 615032; CHD8-related neurodevelopmental syndrome to {Autism, susceptibility to, 18} 615032; Neurodevelopmental disorder, MONDO:0700092, CHD8-associated",
"entity_name": "CHD8",
"entity_type": "gene"
},
{
"created": "2022-05-03T09:42:04.907210+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13599",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CHD8: Changed phenotypes: {Autism, susceptibility to, 18} 615032, Neurodevelopmental disorder, MONDO:0700092, CHD8-associated",
"entity_name": "CHD8",
"entity_type": "gene"
},
{
"created": "2022-05-03T09:05:42.335096+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13599",
"user_name": "Samantha Ayres",
"item_type": "entity",
"text": "reviewed gene: SLC11A1: Rating: RED; Mode of pathogenicity: None; Publications: 35140349; Phenotypes: {Buruli ulcer, susceptibility to}, MIM#610446, {Mycobacterium tuberculosis, susceptibility to infection by} , MIM#607948; Mode of inheritance: Unknown",
"entity_name": "SLC11A1",
"entity_type": "gene"
},
{
"created": "2022-05-02T18:50:38.223886+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4720",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HERC1 as ready",
"entity_name": "HERC1",
"entity_type": "gene"
},
{
"created": "2022-05-02T18:50:38.213686+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4720",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: herc1 has been classified as Green List (High Evidence).",
"entity_name": "HERC1",
"entity_type": "gene"
},
{
"created": "2022-05-02T18:50:34.004980+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4720",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HERC1 were changed from to Macrocephaly, dysmorphic facies, and psychomotor retardation, MIM# 617011",
"entity_name": "HERC1",
"entity_type": "gene"
},
{
"created": "2022-05-02T18:48:29.992218+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4719",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HERC1 were set to ",
"entity_name": "HERC1",
"entity_type": "gene"
},
{
"created": "2022-05-02T18:47:56.219146+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4718",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HERC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HERC1",
"entity_type": "gene"
},
{
"created": "2022-05-02T18:47:21.463355+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4717",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HERC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28323226, 27108999, 26153217, 26138117, 20041218; Phenotypes: Macrocephaly, dysmorphic facies, and psychomotor retardation, MIM# 617011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HERC1",
"entity_type": "gene"
},
{
"created": "2022-05-02T18:46:32.287077+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13599",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HERC1 as ready",
"entity_name": "HERC1",
"entity_type": "gene"
},
{
"created": "2022-05-02T18:46:32.276924+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13599",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: herc1 has been classified as Green List (High Evidence).",
"entity_name": "HERC1",
"entity_type": "gene"
},
{
"created": "2022-05-02T18:46:23.145957+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13599",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HERC1 were changed from to Macrocephaly, dysmorphic facies, and psychomotor retardation, MIM# 617011",
"entity_name": "HERC1",
"entity_type": "gene"
},
{
"created": "2022-05-02T18:46:04.111382+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13598",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HERC1 were set to ",
"entity_name": "HERC1",
"entity_type": "gene"
},
{
"created": "2022-05-02T18:45:43.833770+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HERC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HERC1",
"entity_type": "gene"
},
{
"created": "2022-05-02T18:45:22.497056+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HERC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28323226, 27108999, 26153217, 26138117, 20041218; Phenotypes: Macrocephaly, dysmorphic facies, and psychomotor retardation, MIM# 617011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HERC1",
"entity_type": "gene"
},
{
"created": "2022-05-02T18:41:41.292396+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HEPACAM as ready",
"entity_name": "HEPACAM",
"entity_type": "gene"
},
{
"created": "2022-05-02T18:41:41.279042+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hepacam has been classified as Green List (High Evidence).",
"entity_name": "HEPACAM",
"entity_type": "gene"
},
{
"created": "2022-05-02T18:41:32.206299+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HEPACAM were changed from to Megalencephalic leukoencephalopathy with subcortical cysts 2A, MIM# 613925; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, MIM# 613926",
"entity_name": "HEPACAM",
"entity_type": "gene"
},
{
"created": "2022-05-02T18:41:11.626422+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HEPACAM were set to ",
"entity_name": "HEPACAM",
"entity_type": "gene"
},
{
"created": "2022-05-02T18:40:49.640202+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13594",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HEPACAM was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "HEPACAM",
"entity_type": "gene"
},
{
"created": "2022-05-02T18:40:25.311341+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13593",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HEPACAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 21419380, 21419380; Phenotypes: Megalencephalic leukoencephalopathy with subcortical cysts 2A, MIM# 613925, Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, MIM# 613926; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "HEPACAM",
"entity_type": "gene"
},
{
"created": "2022-05-02T15:11:18.743033+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13593",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: LIPT2 as ready",
"entity_name": "LIPT2",
"entity_type": "gene"
},
{
"created": "2022-05-02T15:11:18.729063+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13593",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: lipt2 has been classified as Green List (High Evidence).",
"entity_name": "LIPT2",
"entity_type": "gene"
},
{
"created": "2022-05-02T15:11:09.668732+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13593",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: LIPT2 were changed from to Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM#617668",
"entity_name": "LIPT2",
"entity_type": "gene"
},
{
"created": "2022-05-02T14:51:36.517500+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13592",
"user_name": "Samantha Ayres",
"item_type": "entity",
"text": "reviewed gene: SIL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24176978, 16282977, 20301371; Phenotypes: Marinesco-Sjogren syndrome, MIM#248800, MONDO#0009567; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SIL1",
"entity_type": "gene"
},
{
"created": "2022-05-02T14:09:08.158407+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNASE2 were changed from Auto-inflammatory disorder; splenomegaly; glomerulonephritis; liver fibrosis; arthritis; HLH to Autoinflammatory-pancytopaenia syndrome, MIM# 619858",
"entity_name": "DNASE2",
"entity_type": "gene"
},
{
"created": "2022-05-02T14:08:31.900459+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DNASE2: Changed phenotypes: Autoinflammatory-pancytopaenia syndrome, MIM# 619858",
"entity_name": "DNASE2",
"entity_type": "gene"
},
{
"created": "2022-05-02T14:08:07.316146+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13592",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNASE2 were changed from Auto-inflammatory disorder; splenomegaly; glomerulonephritis; liver fibrosis; arthritis; HLH to Autoinflammatory-pancytopaenia syndrome, MIM# 619858",
"entity_name": "DNASE2",
"entity_type": "gene"
},
{
"created": "2022-05-02T14:07:40.247347+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13591",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DNASE2: Changed phenotypes: Autoinflammatory-pancytopenia syndrome, MIM# 619858",
"entity_name": "DNASE2",
"entity_type": "gene"
},
{
"created": "2022-05-02T12:44:58.354860+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13591",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Publications for gene: LIPT2 were set to ",
"entity_name": "LIPT2",
"entity_type": "gene"
},
{
"created": "2022-05-02T12:44:37.150116+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13590",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Mode of inheritance for gene: LIPT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIPT2",
"entity_type": "gene"
},
{
"created": "2022-05-02T12:40:43.534579+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13589",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: LIPH as ready",
"entity_name": "LIPH",
"entity_type": "gene"
},
{
"created": "2022-05-02T12:40:43.507126+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13589",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: liph has been classified as Green List (High Evidence).",
"entity_name": "LIPH",
"entity_type": "gene"
},
{
"created": "2022-05-02T12:40:40.675130+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13589",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: LIPH were changed from to Woolly hair, autosomal recessive 2 with or without hypotrichosis, MIM# 604379; Hypotrichosis 7, MIM# 604379",
"entity_name": "LIPH",
"entity_type": "gene"
},
{
"created": "2022-05-02T12:39:58.923591+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13588",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: LIPH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Woolly hair, autosomal recessive 2 with or without hypotrichosis, MIM# 604379, Hypotrichosis 7, MIM# 604379; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIPH",
"entity_type": "gene"
},
{
"created": "2022-05-02T12:38:02.672625+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13588",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Mode of inheritance for gene: LIPH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIPH",
"entity_type": "gene"
},
{
"created": "2022-05-02T12:34:14.898881+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13587",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: LIPC as ready",
"entity_name": "LIPC",
"entity_type": "gene"
},
{
"created": "2022-05-02T12:34:14.887345+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13587",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: lipc has been classified as Green List (High Evidence).",
"entity_name": "LIPC",
"entity_type": "gene"
},
{
"created": "2022-05-02T12:33:55.844929+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13587",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: LIPC were changed from to Hepatic lipase deficiency MIM#614025; Hyperlipidemia due to hepatic triglyceride lipase deficiency, MONDO:0013533",
"entity_name": "LIPC",
"entity_type": "gene"
},
{
"created": "2022-05-02T12:31:28.634554+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13586",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Publications for gene: LIPC were set to ",
"entity_name": "LIPC",
"entity_type": "gene"
},
{
"created": "2022-05-02T12:30:36.284496+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13585",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: PMID: 1671786, 12777476, 1883393, 22798447 - 7 cases from 3 unrelated families with hepatic lipase deficiency and biallelic variants.\r\nPMID: 26423094 - null mouse had dyslipidemia on a high cholesterol and fat diet\r\nPMID: 23219720, 22464213 - 2 cases with hyperalphalipoproteinemia and heterozygous variants, with supporting in vitro funcitonal assays",
"entity_name": "LIPC",
"entity_type": "gene"
},
{
"created": "2022-05-02T12:30:36.248636+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13585",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Mode of inheritance for gene: LIPC was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LIPC",
"entity_type": "gene"
},
{
"created": "2022-05-02T12:25:18.798275+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13584",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Mode of inheritance for gene: LINS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LINS1",
"entity_type": "gene"
},
{
"created": "2022-05-02T12:24:55.357358+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13583",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: LINS1 as ready",
"entity_name": "LINS1",
"entity_type": "gene"
},
{
"created": "2022-05-02T12:24:55.340439+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13583",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: lins1 has been classified as Green List (High Evidence).",
"entity_name": "LINS1",
"entity_type": "gene"
},
{
"created": "2022-05-02T12:24:47.006888+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13583",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: LINS1 were changed from to Intellectual developmental disorder, autosomal recessive 27, MIM# 614340",
"entity_name": "LINS1",
"entity_type": "gene"
},
{
"created": "2022-05-02T12:24:07.479260+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13582",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Publications for gene: LINS1 were set to ",
"entity_name": "LINS1",
"entity_type": "gene"
},
{
"created": "2022-05-02T12:08:45.546386+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4717",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: LINS1 were changed from Intellectual developmental disorder, autosomal recessive 27, MIM# 614340 to Intellectual developmental disorder, autosomal recessive 27, MIM# 614340",
"entity_name": "LINS1",
"entity_type": "gene"
},
{
"created": "2022-05-02T12:07:56.550575+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4716",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: LINS1 were changed from to Intellectual developmental disorder, autosomal recessive 27, MIM# 614340",
"entity_name": "LINS1",
"entity_type": "gene"
},
{
"created": "2022-05-02T12:07:56.179263+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4715",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: LINS1 as ready",
"entity_name": "LINS1",
"entity_type": "gene"
},
{
"created": "2022-05-02T12:07:56.169395+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4715",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: lins1 has been classified as Green List (High Evidence).",
"entity_name": "LINS1",
"entity_type": "gene"
},
{
"created": "2022-05-02T12:07:16.560269+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4715",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Publications for gene: LINS1 were set to ",
"entity_name": "LINS1",
"entity_type": "gene"
},
{
"created": "2022-05-02T12:06:23.646121+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4714",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Mode of inheritance for gene: LINS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LINS1",
"entity_type": "gene"
},
{
"created": "2022-05-02T12:05:44.520398+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4713",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: LINS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32802957, 34450347, 32499722, 31922598; Phenotypes: ntellectual developmental disorder, autosomal recessive 27, MIM# 614340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LINS1",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:44:40.232573+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HCRT as ready",
"entity_name": "HCRT",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:44:40.217359+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hcrt has been classified as Red List (Low Evidence).",
"entity_name": "HCRT",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:44:31.003798+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HCRT were changed from to Narcolepsy 1 , MIM# 161400",
"entity_name": "HCRT",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:44:10.627480+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HCRT were set to ",
"entity_name": "HCRT",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:43:50.200461+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HCRT was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HCRT",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:43:31.605540+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HCRT as Red List (low evidence)",
"entity_name": "HCRT",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:43:31.592508+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hcrt has been classified as Red List (Low Evidence).",
"entity_name": "HCRT",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:43:20.922660+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13577",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: LIM2 as ready",
"entity_name": "LIM2",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:43:20.909607+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13577",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: lim2 has been classified as Green List (High Evidence).",
"entity_name": "LIM2",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:43:06.723396+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HCRT: Rating: RED; Mode of pathogenicity: None; Publications: 10973318, 11148249, 11723284; Phenotypes: Narcolepsy 1 , MIM# 161400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HCRT",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:42:54.603445+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13577",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: LIM2 were changed from to Cataract 19, multiple types, MIM# 615277",
"entity_name": "LIM2",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:42:43.509331+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13576",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Publications for gene: LIM2 were set to ",
"entity_name": "LIM2",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:42:34.405859+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13575",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Mode of inheritance for gene: LIM2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LIM2",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:38:18.934879+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4713",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HCN1 as ready",
"entity_name": "HCN1",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:38:18.923303+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4713",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hcn1 has been classified as Green List (High Evidence).",
"entity_name": "HCN1",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:38:10.981356+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4713",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HCN1 were changed from to Developmental and epileptic encephalopathy 24, MIM# 615871; Generalized epilepsy with febrile seizures plus, type 10, MIM# 618482",
"entity_name": "HCN1",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:37:48.629737+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13574",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: LIM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27814360, 11917274, 18596884, 33708862, 32202185, 21617753; Phenotypes: Cataract 19, multiple types, MIM# 615277; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LIM2",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:37:29.936124+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4712",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HCN1 were set to ",
"entity_name": "HCN1",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:36:53.702278+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4711",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HCN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HCN1",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:36:15.619553+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4710",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HCN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24747641, 30351409, 30351409; Phenotypes: Developmental and epileptic encephalopathy 24, MIM# 615871, Generalized epilepsy with febrile seizures plus, type 10, MIM# 618482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HCN1",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:35:27.685524+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HCN1 as ready",
"entity_name": "HCN1",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:35:27.675074+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hcn1 has been classified as Green List (High Evidence).",
"entity_name": "HCN1",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:35:24.514280+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HCN1 were changed from to Developmental and epileptic encephalopathy 24, MIM# 615871; Generalized epilepsy with febrile seizures plus, type 10, MIM# 618482",
"entity_name": "HCN1",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:34:47.593346+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HCN1 were set to ",
"entity_name": "HCN1",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:34:12.077374+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HCN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HCN1",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:33:33.384621+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HCN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24747641, 30351409, 30351409; Phenotypes: Developmental and epileptic encephalopathy 24, MIM# 615871, Generalized epilepsy with febrile seizures plus, type 10, MIM# 618482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HCN1",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:32:53.457065+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HCN1 as ready",
"entity_name": "HCN1",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:32:53.417065+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hcn1 has been classified as Green List (High Evidence).",
"entity_name": "HCN1",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:32:42.617225+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HCN1 were changed from to Developmental and epileptic encephalopathy 24, MIM# 615871; Generalized epilepsy with febrile seizures plus, type 10, MIM# 618482",
"entity_name": "HCN1",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:32:22.580482+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HCN1 were set to ",
"entity_name": "HCN1",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:31:58.963811+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HCN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HCN1",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:31:25.706059+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HCN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24747641, 30351409, 30351409; Phenotypes: Developmental and epileptic encephalopathy 24, MIM# 615871, Generalized epilepsy with febrile seizures plus, type 10, MIM# 618482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HCN1",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:26:56.296707+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HCCS as ready",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:26:56.286158+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hccs has been classified as Green List (High Evidence).",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:26:47.177326+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HCCS were changed from to Linear skin defects with multiple congenital anomalies 1, MIM# 309801",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:26:25.010504+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HCCS were set to ",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2022-05-02T11:26:03.511391+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HCCS was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "HCCS",
"entity_type": "gene"
}
]
}