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{
"count": 220725,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1571",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1569",
"results": [
{
"created": "2020-09-28T15:25:03.053391+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ins has been classified as Green List (High Evidence).",
"entity_name": "INS",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:24:57.274672+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: INS as Green List (high evidence)",
"entity_name": "INS",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:24:57.261399+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ins has been classified as Green List (High Evidence).",
"entity_name": "INS",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:23:42.614344+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CAPN3 were set to 31937337; 28881388",
"entity_name": "CAPN3",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:23:30.776177+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CAPN3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "CAPN3",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:19:15.432707+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IGHMBP2 as Red List (low evidence)",
"entity_name": "IGHMBP2",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:19:15.422631+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ighmbp2 has been classified as Red List (Low Evidence).",
"entity_name": "IGHMBP2",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:18:47.233732+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: SMA-like disorder with prominent diaphragmatic involvement but onset is in infancy.; to: SMA-like disorder with prominent diaphragmatic involvement but onset is in infancy. Included in Hereditary Neuropathy_Isolated panel.",
"entity_name": "IGHMBP2",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:18:19.225746+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IGHMBP2: Changed rating: RED",
"entity_name": "IGHMBP2",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:17:54.488402+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXOSC8 as ready",
"entity_name": "EXOSC8",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:17:54.475913+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exosc8 has been classified as Red List (Low Evidence).",
"entity_name": "EXOSC8",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:17:48.682017+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EXOSC8 were changed from to Pontocerebellar hypoplasia, type 1C, MIM# 616081",
"entity_name": "EXOSC8",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:17:24.661720+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EXOSC8 were set to ",
"entity_name": "EXOSC8",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:16:57.757459+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EXOSC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EXOSC8",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:16:36.392128+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EXOSC8 as Red List (low evidence)",
"entity_name": "EXOSC8",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:16:36.383764+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exosc8 has been classified as Red List (Low Evidence).",
"entity_name": "EXOSC8",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:16:12.701848+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: This disorder includes a spinal muscular atrophy component in addition to the PCH, but onset is typically in infancy.; to: This disorder includes a spinal muscular atrophy component in addition to the PCH, but onset is typically in infancy. Gene is included in Hereditary Neuropathy_Complex panel.",
"entity_name": "EXOSC8",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:15:57.984721+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EXOSC8: Changed rating: RED",
"entity_name": "EXOSC8",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:14:50.840967+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DYNC1H1 as ready",
"entity_name": "DYNC1H1",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:14:50.832464+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dync1h1 has been classified as Red List (Low Evidence).",
"entity_name": "DYNC1H1",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:14:48.391643+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DYNC1H1 were changed from to Spinal muscular atrophy, lower extremity-predominant 1, AD, MIM# 158600",
"entity_name": "DYNC1H1",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:13:34.272259+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DYNC1H1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DYNC1H1",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:13:16.675261+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DYNC1H1 as Red List (low evidence)",
"entity_name": "DYNC1H1",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:13:16.665349+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dync1h1 has been classified as Red List (Low Evidence).",
"entity_name": "DYNC1H1",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:12:50.146410+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DYNC1H1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal muscular atrophy, lower extremity-predominant 1, AD, MIM# 158600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DYNC1H1",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:10:56.042475+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:08:05.334862+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BICD2 as ready",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:08:05.324121+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bicd2 has been classified as Red List (Low Evidence).",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:08:01.985991+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BICD2 were changed from to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, 615290; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:07:29.455917+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BICD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:07:08.163079+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BICD2 as Red List (low evidence)",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:07:08.153231+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bicd2 has been classified as Red List (Low Evidence).",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:06:43.727573+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BICD2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, 615290, Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:04:59.910051+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP7A as ready",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:04:59.896774+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp7a has been classified as Red List (Low Evidence).",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:04:54.288504+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP7A were changed from to Spinal muscular atrophy, distal, X-linked 3, 300489",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:04:26.703489+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP7A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:04:01.439124+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP7A as Red List (low evidence)",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:04:01.430589+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp7a has been classified as Red List (Low Evidence).",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:03:37.825330+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP7A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal muscular atrophy, distal, X-linked 3, 300489; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:02:04.311001+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASAH1 as ready",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:02:04.300626+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asah1 has been classified as Red List (Low Evidence).",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:02:01.699442+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASAH1 were changed from to Spinal muscular atrophy with progressive myoclonic epilepsy, 159950",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:01:35.695949+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ASAH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:00:37.406301+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ASAH1 as Red List (low evidence)",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:00:37.396330+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asah1 has been classified as Red List (Low Evidence).",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:00:06.923028+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Early childhood onset, included in Peripheral Neuropathy panels.; to: Early childhood onset, included in Hereditary Neuropathy panels.",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:59:44.618562+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ASAH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal muscular atrophy with progressive myoclonic epilepsy, 159950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:58:41.586224+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.8",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "reviewed gene: SLC16A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25517855, 21098685, 31410843; Phenotypes: #300523 ALLAN-HERNDON-DUDLEY SYNDROME; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:57:56.834107+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VRK1 as ready",
"entity_name": "VRK1",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:57:56.822263+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vrk1 has been classified as Red List (Low Evidence).",
"entity_name": "VRK1",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:57:43.860103+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VRK1 were changed from to Distal hereditary motor neuropathy; dHMN/dSMA",
"entity_name": "VRK1",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:57:21.365811+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VRK1 were set to ",
"entity_name": "VRK1",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:56:56.939242+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: VRK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VRK1",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:56:30.671029+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VRK1 as Red List (low evidence)",
"entity_name": "VRK1",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:56:30.661453+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vrk1 has been classified as Red List (Low Evidence).",
"entity_name": "VRK1",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:56:03.629292+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VRK1: Rating: RED; Mode of pathogenicity: None; Publications: 31560180, 32242460, 31178479, 31837156, 30847374; Phenotypes: Distal hereditary motor neuropathy, dHMN/dSMA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VRK1",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:44:19.324247+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4599",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBA1 as ready",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:44:19.315509+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4599",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uba1 has been classified as Green List (High Evidence).",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:44:05.700245+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4599",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBA1 were changed from to Spinal muscular atrophy, X-linked 2, infantile, MIM# 301830",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:42:13.955773+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4598",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UBA1 were set to ",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:41:51.247340+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UBA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:41:33.348004+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18179898, 32181232, 31932168, 29034082, 27699224, 26028276, 23518311; Phenotypes: Spinal muscular atrophy, X-linked 2, infantile, MIM# 301830; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:40:48.549212+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBA1 as ready",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:40:48.539162+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uba1 has been classified as Green List (High Evidence).",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:40:46.138714+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBA1 were changed from to Spinal muscular atrophy, X-linked 2, infantile, MIM# 301830",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:40:21.083725+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UBA1 were set to ",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:39:58.517165+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UBA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:36:35.326287+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18179898, 32181232, 31932168, 29034082, 27699224, 26028276, 23518311; Phenotypes: Spinal muscular atrophy, X-linked 2, infantile, MIM# 301830; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:33:08.189317+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBA1 as ready",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:33:08.169203+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uba1 has been classified as Red List (Low Evidence).",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:33:05.571736+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBA1 were changed from to Spinal muscular atrophy, X-linked 2, infantile, MIM# 301830",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:32:39.443959+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UBA1 were set to ",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:32:16.230572+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UBA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:31:44.031305+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UBA1 as Red List (low evidence)",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:31:44.022746+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uba1 has been classified as Red List (Low Evidence).",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:31:16.613856+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UBA1: Rating: RED; Mode of pathogenicity: None; Publications: 18179898, 32181232, 31932168, 29034082, 27699224, 26028276, 23518311; Phenotypes: Spinal muscular atrophy, X-linked 2, infantile, MIM# 301830; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:26:43.374671+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRPV4 as ready",
"entity_name": "TRPV4",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:26:43.365694+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trpv4 has been classified as Red List (Low Evidence).",
"entity_name": "TRPV4",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:26:40.291428+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRPV4 were changed from to Spinal muscular atrophy, distal, congenital nonprogressive, 600175",
"entity_name": "TRPV4",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:26:07.565655+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRPV4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRPV4",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:25:45.953424+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRPV4 as Red List (low evidence)",
"entity_name": "TRPV4",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:25:45.944696+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trpv4 has been classified as Red List (Low Evidence).",
"entity_name": "TRPV4",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:25:22.713498+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRPV4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "TRPV4",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:23:52.915473+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIP4 as ready",
"entity_name": "TRIP4",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:23:52.905532+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trip4 has been classified as Green List (High Evidence).",
"entity_name": "TRIP4",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:23:50.578278+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRIP4 were changed from Spinal muscular atrophy with congenital bone fractures 1 to Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866",
"entity_name": "TRIP4",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:23:34.351260+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRIP4 were set to ",
"entity_name": "TRIP4",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:23:24.264339+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRIP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 26924529; Phenotypes: Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRIP4",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:22:03.977143+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIP4 as ready",
"entity_name": "TRIP4",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:22:03.968673+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trip4 has been classified as Green List (High Evidence).",
"entity_name": "TRIP4",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:21:56.717111+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRIP4 were changed from to Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866; Muscular dystrophy, congenital, Davignon-Chauveau type 617066",
"entity_name": "TRIP4",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:21:36.805468+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRIP4 were set to ",
"entity_name": "TRIP4",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:21:21.106659+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4594",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRIP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRIP4",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:21:05.639675+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4593",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRIP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 26924529, 31794073; Phenotypes: Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866, Muscular dystrophy, congenital, Davignon-Chauveau type 617066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRIP4",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:18:02.116801+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIP4 as ready",
"entity_name": "TRIP4",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:18:02.099711+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trip4 has been classified as Red List (Low Evidence).",
"entity_name": "TRIP4",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:17:59.900227+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRIP4 were changed from to Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866",
"entity_name": "TRIP4",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:17:35.420805+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRIP4 were set to ",
"entity_name": "TRIP4",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:17:12.625875+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRIP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRIP4",
"entity_type": "gene"
}
]
}