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{
"count": 220725,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1574",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1572",
"results": [
{
"created": "2020-09-25T14:34:38.705749+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: ALB was changed from to Other",
"entity_name": "ALB",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:31:34.852554+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBA4A as ready",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:31:34.841916+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tuba4a has been classified as Amber List (Moderate Evidence).",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:31:27.676330+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBA4A as ready",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:31:27.665643+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tuba4a has been classified as Amber List (Moderate Evidence).",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:31:24.893217+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBA4A were changed from to Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, MIM# 616208",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:30:53.713569+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUBA4A were set to ",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:30:29.344227+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TUBA4A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:30:04.123368+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TUBA4A as Amber List (moderate evidence)",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:30:04.114449+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tuba4a has been classified as Amber List (Moderate Evidence).",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:29:11.291844+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBA4A were changed from to Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, MIM# 616208",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:29:08.659879+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TUBA4A: Rating: AMBER; Mode of pathogenicity: None; Publications: 28069311, 25374358, 26675813; Phenotypes: Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, MIM# 616208; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:28:20.583164+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBA4A as ready",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:28:20.574042+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tuba4a has been classified as Amber List (Moderate Evidence).",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:28:18.155813+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBA4A were changed from to Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, MIM# 616208",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:27:52.527526+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUBA4A were set to ",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:27:26.116109+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TUBA4A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:27:04.577349+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TUBA4A as Amber List (moderate evidence)",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:27:04.566974+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tuba4a has been classified as Amber List (Moderate Evidence).",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:26:30.453607+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TUBA4A: Rating: AMBER; Mode of pathogenicity: None; Publications: 28069311, 25374358, 26675813; Phenotypes: Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, MIM# 616208; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:26:21.055783+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUBA4A were set to ",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:25:41.390702+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TUBA4A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:25:09.409229+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TUBA4A as Amber List (moderate evidence)",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:25:09.398894+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tuba4a has been classified as Amber List (Moderate Evidence).",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:24:41.369565+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TUBA4A: Rating: AMBER; Mode of pathogenicity: None; Publications: 28069311, 25374358, 26675813; Phenotypes: Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, MIM# 616208; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:19:26.226875+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHCHD10 were set to 24934289; 31690696; 30877432; 32369233",
"entity_name": "CHCHD10",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:18:56.779829+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: CHCHD10 is a small protein of the mitochondrial intermembrane space that is enriched at cristae junctions. It is predicted to be involved in oxidative phosphorylation or in maintenance of cristae morphology. Variants have been associated with a broad spectrum of neurological/neuromuscular phenotypes. Several large multiplex families described segregating different neurological disorders, ranging from dementia, to SMA, to myopathy. GOF mechanism has been proposed for FTD/ALS association based on a mouse model.\r\n\r\nTwo families reported with p.Ser59Leu variant and predominantly a dementia phenotype. Variant segregated with disease in 8 family members in one of the families. No variants in this gene identified in an Australian cohort study, PMID 31690696; however, good functional data including from mouse model supports gene-disease association.; to: CHCHD10 is a small protein of the mitochondrial intermembrane space that is enriched at cristae junctions. It is predicted to be involved in oxidative phosphorylation or in maintenance of cristae morphology. Variants have been associated with a broad spectrum of neurological/neuromuscular phenotypes. Several large multiplex families described segregating different neurological disorders, ranging from dementia, to SMA, to myopathy. GOF mechanism has been proposed for FTD/ALS association based on a mouse model.\r\n\r\nTwo families reported with p.Ser59Leu variant, and one with a truncating variant and predominantly a dementia phenotype. Variant segregated with disease in 8 family members in one of the families. No variants in this gene identified in an Australian cohort study, PMID 31690696; however, good functional data including from mouse model supports gene-disease association.",
"entity_name": "CHCHD10",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:18:06.795366+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CHCHD10: Changed publications: 24934289, 31690696, 30877432, 32369233, 28069311",
"entity_name": "CHCHD10",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:13:36.963238+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TTR as ready",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:13:36.941491+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttr has been classified as Green List (High Evidence).",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:13:34.344268+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TTR were changed from to Amyloidosis, hereditary, transthyretin-related, MIM# 105210",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:13:07.756839+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TTR were set to ",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:12:49.805612+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TTR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:12:22.280370+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TTR: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301373; Phenotypes: Amyloidosis, hereditary, transthyretin-related, MIM# 105210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:09:00.090382+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TREM2 as ready",
"entity_name": "TREM2",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:09:00.079398+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trem2 has been classified as Green List (High Evidence).",
"entity_name": "TREM2",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:08:51.492129+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TREM2 were changed from to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, MIM# 618193",
"entity_name": "TREM2",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:08:32.744219+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TREM2 were set to ",
"entity_name": "TREM2",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:08:15.279477+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TREM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TREM2",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:07:59.476180+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TREM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12080485, 15883308; Phenotypes: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, MIM# 618193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TREM2",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:07:12.101295+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TREM2 as ready",
"entity_name": "TREM2",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:07:12.089588+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trem2 has been classified as Red List (Low Evidence).",
"entity_name": "TREM2",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:07:07.026693+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TREM2 were changed from to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, MIM# 618193",
"entity_name": "TREM2",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:06:39.581466+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TREM2 were set to ",
"entity_name": "TREM2",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:06:16.389889+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TREM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TREM2",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:05:51.580803+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TREM2 as Red List (low evidence)",
"entity_name": "TREM2",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:05:51.570586+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trem2 has been classified as Red List (Low Evidence).",
"entity_name": "TREM2",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:05:22.784912+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TREM2: Rating: RED; Mode of pathogenicity: None; Publications: 12080485, 15883308; Phenotypes: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, MIM# 618193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TREM2",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:04:05.830484+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TREM2 as ready",
"entity_name": "TREM2",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:04:05.818870+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trem2 has been classified as Green List (High Evidence).",
"entity_name": "TREM2",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:04:03.300215+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TREM2 were changed from to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, MIM# 618193",
"entity_name": "TREM2",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:03:35.903747+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TREM2 were set to ",
"entity_name": "TREM2",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:03:07.994717+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TREM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TREM2",
"entity_type": "gene"
},
{
"created": "2020-09-25T14:02:41.668218+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TREM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12080485, 15883308; Phenotypes: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, MIM# 618193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TREM2",
"entity_type": "gene"
},
{
"created": "2020-09-25T12:55:49.798038+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPG21 as ready",
"entity_name": "SPG21",
"entity_type": "gene"
},
{
"created": "2020-09-25T12:55:49.789803+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spg21 has been classified as Green List (High Evidence).",
"entity_name": "SPG21",
"entity_type": "gene"
},
{
"created": "2020-09-25T12:55:42.608901+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPG21 were changed from to Mast syndrome, MIM# 248900",
"entity_name": "SPG21",
"entity_type": "gene"
},
{
"created": "2020-09-25T12:55:24.665202+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPG21 were set to ",
"entity_name": "SPG21",
"entity_type": "gene"
},
{
"created": "2020-09-25T12:54:28.599554+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPG21 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPG21",
"entity_type": "gene"
},
{
"created": "2020-09-25T12:54:11.981028+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: SPG21.",
"entity_name": "SPG21",
"entity_type": "gene"
},
{
"created": "2020-09-25T12:53:59.154615+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPG21: Rating: GREEN; Mode of pathogenicity: None; Publications: 14564668, 24451228, 28752238, 26978163; Phenotypes: Mast syndrome, MIM# 248900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPG21",
"entity_type": "gene"
},
{
"created": "2020-09-25T12:51:23.753793+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Mast syndrome is an autosomal recessive complicated form of hereditary spastic paraplegia in which progressive spastic paraparesis is associated in more advanced cases with cognitive decline, dementia, and other neurologic abnormalities. Symptom onset usually occurs in adulthood, and the disorder is progressive with variable severity. Brain imaging shows thinning of the corpus callosum. The disorder occurs with high frequency in the Old Order Amish. Founder variant in Amish, two additional families and a mouse model.; to: Mast syndrome is an autosomal recessive complicated form of hereditary spastic paraplegia in which progressive spastic paraparesis is associated in more advanced cases with cognitive decline, dementia, and other neurologic abnormalities. Symptom onset usually occurs in adulthood, and the disorder is progressive with variable severity. Brain imaging shows thinning of the corpus callosum. The disorder occurs with high frequency in the Old Order Amish. Founder variant in Amish, two additional families and a mouse model.\r\n\r\nNew HGNC approved gene name is ACP33",
"entity_name": "SPG21",
"entity_type": "gene"
},
{
"created": "2020-09-25T12:50:57.619008+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: SPG21.",
"entity_name": "SPG21",
"entity_type": "gene"
},
{
"created": "2020-09-25T12:50:42.924223+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPG21 as ready",
"entity_name": "SPG21",
"entity_type": "gene"
},
{
"created": "2020-09-25T12:50:42.915212+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spg21 has been classified as Green List (High Evidence).",
"entity_name": "SPG21",
"entity_type": "gene"
},
{
"created": "2020-09-25T12:49:52.143754+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPG21 were changed from to Mast syndrome, MIM# 248900",
"entity_name": "SPG21",
"entity_type": "gene"
},
{
"created": "2020-09-25T12:49:20.235367+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPG21 were set to ",
"entity_name": "SPG21",
"entity_type": "gene"
},
{
"created": "2020-09-25T12:48:54.030392+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPG21 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPG21",
"entity_type": "gene"
},
{
"created": "2020-09-25T12:48:30.871802+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SPG21: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPG21",
"entity_type": "gene"
},
{
"created": "2020-09-25T12:48:23.872102+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SPG21: Changed rating: GREEN",
"entity_name": "SPG21",
"entity_type": "gene"
},
{
"created": "2020-09-25T12:48:18.373932+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPG21: Rating: ; Mode of pathogenicity: None; Publications: 14564668, 24451228, 28752238, 26978163; Phenotypes: Mast syndrome, MIM# 248900; Mode of inheritance: None",
"entity_name": "SPG21",
"entity_type": "gene"
},
{
"created": "2020-09-25T12:43:23.424836+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNCB as ready",
"entity_name": "SNCB",
"entity_type": "gene"
},
{
"created": "2020-09-25T12:43:23.412866+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sncb has been classified as Red List (Low Evidence).",
"entity_name": "SNCB",
"entity_type": "gene"
},
{
"created": "2020-09-25T12:43:16.069740+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: SNCB.",
"entity_name": "SNCB",
"entity_type": "gene"
},
{
"created": "2020-09-25T12:43:08.966954+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SNCB were changed from to Dementia, Lewy body, MIM#127750",
"entity_name": "SNCB",
"entity_type": "gene"
},
{
"created": "2020-09-25T12:43:05.772307+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: SNCB.",
"entity_name": "SNCB",
"entity_type": "gene"
},
{
"created": "2020-09-25T12:42:37.632122+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SNCB were set to ",
"entity_name": "SNCB",
"entity_type": "gene"
},
{
"created": "2020-09-25T12:42:11.531677+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SNCB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SNCB",
"entity_type": "gene"
},
{
"created": "2020-09-25T12:41:48.621089+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SNCB as Red List (low evidence)",
"entity_name": "SNCB",
"entity_type": "gene"
},
{
"created": "2020-09-25T12:41:48.606936+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sncb has been classified as Red List (Low Evidence).",
"entity_name": "SNCB",
"entity_type": "gene"
},
{
"created": "2020-09-25T12:41:21.265507+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SNCB: Rating: RED; Mode of pathogenicity: None; Publications: 15365127, 20697047; Phenotypes: Dementia, Lewy body, MIM#127750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SNCB",
"entity_type": "gene"
},
{
"created": "2020-09-25T12:40:28.104714+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNCB as ready",
"entity_name": "SNCB",
"entity_type": "gene"
},
{
"created": "2020-09-25T12:40:28.093816+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sncb has been classified as Red List (Low Evidence).",
"entity_name": "SNCB",
"entity_type": "gene"
},
{
"created": "2020-09-25T12:40:22.300091+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SNCB were changed from to Dementia, Lewy body, MIM#127750",
"entity_name": "SNCB",
"entity_type": "gene"
},
{
"created": "2020-09-25T12:39:49.912923+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SNCB were set to ",
"entity_name": "SNCB",
"entity_type": "gene"
},
{
"created": "2020-09-25T12:39:25.841760+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SNCB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SNCB",
"entity_type": "gene"
},
{
"created": "2020-09-25T12:38:55.906342+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SNCB as Red List (low evidence)",
"entity_name": "SNCB",
"entity_type": "gene"
},
{
"created": "2020-09-25T12:38:55.897598+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sncb has been classified as Red List (Low Evidence).",
"entity_name": "SNCB",
"entity_type": "gene"
},
{
"created": "2020-09-25T12:38:31.697312+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SNCB: Rating: RED; Mode of pathogenicity: None; Publications: 15365127, 20697047; Phenotypes: Dementia, Lewy body, 127750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SNCB",
"entity_type": "gene"
},
{
"created": "2020-09-25T12:30:40.630377+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.1",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "edited their review of gene: ALB: Changed publications: PMID: 29163366, 32635414",
"entity_name": "ALB",
"entity_type": "gene"
},
{
"created": "2020-09-25T12:24:15.958958+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.1",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "reviewed gene: ALB: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 29163366; Phenotypes: HYPERTHYROXINEMIA, FAMILIAL DYSALBUMINEMIC, FDAH (OMIM#615999); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ALB",
"entity_type": "gene"
},
{
"created": "2020-09-25T12:00:35.164239+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FUS as ready",
"entity_name": "FUS",
"entity_type": "gene"
},
{
"created": "2020-09-25T12:00:35.153829+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fus has been classified as Red List (Low Evidence).",
"entity_name": "FUS",
"entity_type": "gene"
},
{
"created": "2020-09-25T12:00:29.138294+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FUS were changed from to Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, MIM# 608030",
"entity_name": "FUS",
"entity_type": "gene"
},
{
"created": "2020-09-25T12:00:03.953619+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FUS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FUS",
"entity_type": "gene"
},
{
"created": "2020-09-25T11:59:42.853088+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FUS as Red List (low evidence)",
"entity_name": "FUS",
"entity_type": "gene"
},
{
"created": "2020-09-25T11:59:42.843113+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fus has been classified as Red List (Low Evidence).",
"entity_name": "FUS",
"entity_type": "gene"
},
{
"created": "2020-09-25T11:59:15.447599+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FUS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, MIM# 608030; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FUS",
"entity_type": "gene"
},
{
"created": "2020-09-25T11:58:02.641517+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FUS as ready",
"entity_name": "FUS",
"entity_type": "gene"
},
{
"created": "2020-09-25T11:58:02.618280+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fus has been classified as Green List (High Evidence).",
"entity_name": "FUS",
"entity_type": "gene"
}
]
}