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{
"count": 220324,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1325",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1323",
"results": [
{
"created": "2021-05-11T21:04:02.414266+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7592",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KDR were set to ",
"entity_name": "KDR",
"entity_type": "gene"
},
{
"created": "2021-05-11T21:03:44.202089+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7591",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KDR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KDR",
"entity_type": "gene"
},
{
"created": "2021-05-11T21:03:28.155608+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KDR: Rating: GREEN; Mode of pathogenicity: None; Publications: 31980491, 29650961, 18931684; Phenotypes: Pulmonary hypertension, Haemangioma, capillary infantile, somatic 602089; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KDR",
"entity_type": "gene"
},
{
"created": "2021-05-11T21:01:05.069300+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KDR were set to 31980491",
"entity_name": "KDR",
"entity_type": "gene"
},
{
"created": "2021-05-11T21:00:52.714729+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KDR as Green List (high evidence)",
"entity_name": "KDR",
"entity_type": "gene"
},
{
"created": "2021-05-11T21:00:52.704181+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdr has been classified as Green List (High Evidence).",
"entity_name": "KDR",
"entity_type": "gene"
},
{
"created": "2021-05-11T21:00:44.028692+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KDR: Changed rating: GREEN",
"entity_name": "KDR",
"entity_type": "gene"
},
{
"created": "2021-05-11T21:00:38.282966+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KDR: Added comment: Additional case-control and functional data, rated as STRONG by ClinGen.; Changed publications: 31980491, 29650961",
"entity_name": "KDR",
"entity_type": "gene"
},
{
"created": "2021-05-11T20:56:13.132919+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIM2 as ready",
"entity_name": "TRIM2",
"entity_type": "gene"
},
{
"created": "2021-05-11T20:56:13.117182+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trim2 has been classified as Green List (High Evidence).",
"entity_name": "TRIM2",
"entity_type": "gene"
},
{
"created": "2021-05-11T20:56:04.705920+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRIM2 were changed from to Charcot-Marie-Tooth disease, type 2R, MIM# 615490; MONDO:0014208",
"entity_name": "TRIM2",
"entity_type": "gene"
},
{
"created": "2021-05-11T20:55:46.911866+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRIM2 were set to ",
"entity_name": "TRIM2",
"entity_type": "gene"
},
{
"created": "2021-05-11T20:55:25.886965+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7588",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRIM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRIM2",
"entity_type": "gene"
},
{
"created": "2021-05-11T20:55:03.846806+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRIM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23562820, 25893792, 18687884, 32815244, 32205255, 25893792; Phenotypes: Charcot-Marie-Tooth disease, type 2R, MIM# 615490, MONDO:0014208; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRIM2",
"entity_type": "gene"
},
{
"created": "2021-05-11T16:27:51.476004+10:00",
"panel_name": "Pain syndromes",
"panel_id": 3126,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAB7A as ready",
"entity_name": "RAB7A",
"entity_type": "gene"
},
{
"created": "2021-05-11T16:27:51.464663+10:00",
"panel_name": "Pain syndromes",
"panel_id": 3126,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab7a has been classified as Green List (High Evidence).",
"entity_name": "RAB7A",
"entity_type": "gene"
},
{
"created": "2021-05-11T16:27:49.242116+10:00",
"panel_name": "Pain syndromes",
"panel_id": 3126,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAB7A were changed from HSAN1/2B; Hereditary motor and sensory neuropathy IIB; Charcot-Marie-Tooth disease, type 2B, 600882 to Charcot-Marie-Tooth disease, type 2B, MIM# 600882; MONDO:0010949",
"entity_name": "RAB7A",
"entity_type": "gene"
},
{
"created": "2021-05-11T16:27:34.840169+10:00",
"panel_name": "Pain syndromes",
"panel_id": 3126,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAB7A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RAB7A",
"entity_type": "gene"
},
{
"created": "2021-05-11T16:27:23.736365+10:00",
"panel_name": "Pain syndromes",
"panel_id": 3126,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RAB7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 12545426, 17060578, 32326241, 29130394, 25614874; Phenotypes: Charcot-Marie-Tooth disease, type 2B, MIM# 600882, MONDO:0010949; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RAB7A",
"entity_type": "gene"
},
{
"created": "2021-05-11T16:26:36.370708+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAB7A as ready",
"entity_name": "RAB7A",
"entity_type": "gene"
},
{
"created": "2021-05-11T16:26:36.361083+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab7a has been classified as Green List (High Evidence).",
"entity_name": "RAB7A",
"entity_type": "gene"
},
{
"created": "2021-05-11T16:26:29.515996+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAB7A were changed from to Charcot-Marie-Tooth disease, type 2B, MIM# 600882; MONDO:0010949",
"entity_name": "RAB7A",
"entity_type": "gene"
},
{
"created": "2021-05-11T16:26:10.098786+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAB7A were set to ",
"entity_name": "RAB7A",
"entity_type": "gene"
},
{
"created": "2021-05-11T16:25:47.364245+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAB7A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RAB7A",
"entity_type": "gene"
},
{
"created": "2021-05-11T16:25:29.954926+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RAB7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 12545426, 17060578, 32326241, 29130394, 25614874; Phenotypes: Charcot-Marie-Tooth disease, type 2B, MIM# 600882, MONDO:0010949; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RAB7A",
"entity_type": "gene"
},
{
"created": "2021-05-11T15:37:01.969980+10:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRDM12 were changed from OMIM# 616488 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII; HSAN8 to Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488; MONDO:0014662",
"entity_name": "PRDM12",
"entity_type": "gene"
},
{
"created": "2021-05-11T15:36:50.441201+10:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRDM12 were set to ",
"entity_name": "PRDM12",
"entity_type": "gene"
},
{
"created": "2021-05-11T15:36:36.883219+10:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRDM12: Rating: GREEN; Mode of pathogenicity: None; Publications: 26005867, 33789102, 33010785, 32828702; Phenotypes: Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488, MONDO:0014662; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRDM12",
"entity_type": "gene"
},
{
"created": "2021-05-11T15:35:46.586007+10:00",
"panel_name": "Pain syndromes",
"panel_id": 3126,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRDM12 as ready",
"entity_name": "PRDM12",
"entity_type": "gene"
},
{
"created": "2021-05-11T15:35:46.575402+10:00",
"panel_name": "Pain syndromes",
"panel_id": 3126,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prdm12 has been classified as Green List (High Evidence).",
"entity_name": "PRDM12",
"entity_type": "gene"
},
{
"created": "2021-05-11T15:35:44.040190+10:00",
"panel_name": "Pain syndromes",
"panel_id": 3126,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRDM12 were changed from insensitivity to pain; Neuropathy, hereditary sensory and autonomic, type VIII, 616488; HSAN VIII; HSAN 8; Hereditary sensory and autonomic neuropathy type VIII to insensitivity to pain; Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488; MONDO:0014662",
"entity_name": "PRDM12",
"entity_type": "gene"
},
{
"created": "2021-05-11T15:35:29.946189+10:00",
"panel_name": "Pain syndromes",
"panel_id": 3126,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRDM12 were set to 26975306; 25891934; 26005867",
"entity_name": "PRDM12",
"entity_type": "gene"
},
{
"created": "2021-05-11T15:35:10.610525+10:00",
"panel_name": "Pain syndromes",
"panel_id": 3126,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRDM12: Rating: GREEN; Mode of pathogenicity: None; Publications: 26005867, 33789102, 33010785, 32828702; Phenotypes: Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488, MONDO:0014662; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRDM12",
"entity_type": "gene"
},
{
"created": "2021-05-11T15:34:21.441779+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRDM12 as ready",
"entity_name": "PRDM12",
"entity_type": "gene"
},
{
"created": "2021-05-11T15:34:21.431087+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prdm12 has been classified as Green List (High Evidence).",
"entity_name": "PRDM12",
"entity_type": "gene"
},
{
"created": "2021-05-11T15:34:13.499686+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRDM12 were changed from to Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488; MONDO:0014662",
"entity_name": "PRDM12",
"entity_type": "gene"
},
{
"created": "2021-05-11T15:33:54.432576+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRDM12 were set to ",
"entity_name": "PRDM12",
"entity_type": "gene"
},
{
"created": "2021-05-11T15:33:36.320043+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRDM12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRDM12",
"entity_type": "gene"
},
{
"created": "2021-05-11T15:33:19.580140+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRDM12: Rating: GREEN; Mode of pathogenicity: None; Publications: 26005867, 33789102, 33010785, 32828702; Phenotypes: Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488, MONDO:0014662; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRDM12",
"entity_type": "gene"
},
{
"created": "2021-05-11T12:01:09.396005+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FIP1L1 as ready",
"entity_name": "FIP1L1",
"entity_type": "gene"
},
{
"created": "2021-05-11T12:01:09.383219+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fip1l1 has been classified as Red List (Low Evidence).",
"entity_name": "FIP1L1",
"entity_type": "gene"
},
{
"created": "2021-05-11T12:00:57.245355+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FIP1L1 as Red List (low evidence)",
"entity_name": "FIP1L1",
"entity_type": "gene"
},
{
"created": "2021-05-11T12:00:57.232171+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fip1l1 has been classified as Red List (Low Evidence).",
"entity_name": "FIP1L1",
"entity_type": "gene"
},
{
"created": "2021-05-11T12:00:39.327942+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FIP1L1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "FIP1L1",
"entity_type": "gene"
},
{
"created": "2021-05-11T11:57:17.712384+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: THBS2 as ready",
"entity_name": "THBS2",
"entity_type": "gene"
},
{
"created": "2021-05-11T11:57:17.699544+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thbs2 has been classified as Red List (Low Evidence).",
"entity_name": "THBS2",
"entity_type": "gene"
},
{
"created": "2021-05-11T11:57:02.404272+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: THBS2 were changed from to {Lumbar disc herniation, susceptibility to} 603932",
"entity_name": "THBS2",
"entity_type": "gene"
},
{
"created": "2021-05-11T11:56:42.129892+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: THBS2 as Red List (low evidence)",
"entity_name": "THBS2",
"entity_type": "gene"
},
{
"created": "2021-05-11T11:56:42.119938+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thbs2 has been classified as Red List (Low Evidence).",
"entity_name": "THBS2",
"entity_type": "gene"
},
{
"created": "2021-05-11T11:56:24.853512+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: THBS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Lumbar disc herniation, susceptibility to} 603932; Mode of inheritance: None",
"entity_name": "THBS2",
"entity_type": "gene"
},
{
"created": "2021-05-11T11:07:57.362803+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADIPOQ as ready",
"entity_name": "ADIPOQ",
"entity_type": "gene"
},
{
"created": "2021-05-11T11:07:57.356581+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: No evidence for association with Mendelian disease.",
"entity_name": "ADIPOQ",
"entity_type": "gene"
},
{
"created": "2021-05-11T11:07:57.307286+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adipoq has been classified as Red List (Low Evidence).",
"entity_name": "ADIPOQ",
"entity_type": "gene"
},
{
"created": "2021-05-11T11:07:49.989296+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADIPOQ were changed from to Adiponectin deficiency MIM#612556",
"entity_name": "ADIPOQ",
"entity_type": "gene"
},
{
"created": "2021-05-11T11:07:29.170408+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADIPOQ were set to ",
"entity_name": "ADIPOQ",
"entity_type": "gene"
},
{
"created": "2021-05-11T11:07:06.596581+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADIPOQ as Red List (low evidence)",
"entity_name": "ADIPOQ",
"entity_type": "gene"
},
{
"created": "2021-05-11T11:07:06.587855+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adipoq has been classified as Red List (Low Evidence).",
"entity_name": "ADIPOQ",
"entity_type": "gene"
},
{
"created": "2021-05-11T11:06:26.563572+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: INTU as ready",
"entity_name": "INTU",
"entity_type": "gene"
},
{
"created": "2021-05-11T11:06:26.551605+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: intu has been classified as Green List (High Evidence).",
"entity_name": "INTU",
"entity_type": "gene"
},
{
"created": "2021-05-11T11:06:19.033250+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: INTU were changed from to ?Orofaciodigital syndrome XVII MIM#617926; ?Short-rib thoracic dysplasia 20 with polydactyly",
"entity_name": "INTU",
"entity_type": "gene"
},
{
"created": "2021-05-11T11:05:59.999276+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: INTU were set to ",
"entity_name": "INTU",
"entity_type": "gene"
},
{
"created": "2021-05-11T11:05:40.412097+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: INTU was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "INTU",
"entity_type": "gene"
},
{
"created": "2021-05-11T11:05:11.423932+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: INTU as ready",
"entity_name": "INTU",
"entity_type": "gene"
},
{
"created": "2021-05-11T11:05:11.413380+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: intu has been classified as Green List (High Evidence).",
"entity_name": "INTU",
"entity_type": "gene"
},
{
"created": "2021-05-11T11:04:33.992193+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7572",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: ADIPOQ: Rating: RED; Mode of pathogenicity: None; Publications: 10918532, 32685557, 33075772, 30574262; Phenotypes: Adiponectin deficiency MIM#612556; Mode of inheritance: None",
"entity_name": "ADIPOQ",
"entity_type": "gene"
},
{
"created": "2021-05-11T11:04:28.423139+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: INTU as Green List (high evidence)",
"entity_name": "INTU",
"entity_type": "gene"
},
{
"created": "2021-05-11T11:04:28.413150+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: intu has been classified as Green List (High Evidence).",
"entity_name": "INTU",
"entity_type": "gene"
},
{
"created": "2021-05-11T09:46:46.041167+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7572",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: INTU: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27158779, 29451301, 20067783; Phenotypes: ?Orofaciodigital syndrome XVII MIM#617926, ?Short-rib thoracic dysplasia 20 with polydactyly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "INTU",
"entity_type": "gene"
},
{
"created": "2021-05-11T09:44:12.176893+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.277",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: INTU was added\ngene: INTU was added to Ciliopathies. Sources: Literature\nMode of inheritance for gene: INTU was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: INTU were set to PMID: 27158779; 29451301; 20067783\nPhenotypes for gene: INTU were set to ?Orofaciodigital syndrome XVII MIM#617926; ?Short-rib thoracic dysplasia 20 with polydactyly\tMIM#617925\nReview for gene: INTU was set to GREEN\nAdded comment: PMID: 27158779 - 1 hom (PTC) and 1 chet (PTC/missense) patient with OFD or Short-rib thoracic dysplasia\r\n\r\nPMID: 20067783 - null mouse model exhibits severe polydactyly, lethal midgestation, exhibiting multiple defects including neural tube closure defects, abnormal dorsal/ventral patterning of the central nervous system \r\n\r\nPMID: 29451301 - 1 chet patient (missense/CNV) with OFD and polydactyly \nSources: Literature",
"entity_name": "INTU",
"entity_type": "gene"
},
{
"created": "2021-05-10T21:09:57.321078+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NGF as ready",
"entity_name": "NGF",
"entity_type": "gene"
},
{
"created": "2021-05-10T21:09:57.310474+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ngf has been classified as Green List (High Evidence).",
"entity_name": "NGF",
"entity_type": "gene"
},
{
"created": "2021-05-10T21:09:49.142608+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NGF were changed from to Neuropathy, hereditary sensory and autonomic, type V, MIM# 608654; MONDO:0012092",
"entity_name": "NGF",
"entity_type": "gene"
},
{
"created": "2021-05-10T21:09:29.769262+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NGF were set to ",
"entity_name": "NGF",
"entity_type": "gene"
},
{
"created": "2021-05-10T21:09:02.714046+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NGF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NGF",
"entity_type": "gene"
},
{
"created": "2021-05-10T21:08:45.192004+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NGF: Rating: GREEN; Mode of pathogenicity: None; Publications: 14976160, 20978020, 33884296, 32693191, 31685654, 30296891; Phenotypes: Neuropathy, hereditary sensory and autonomic, type V, MIM# 608654, MONDO:0012092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NGF",
"entity_type": "gene"
},
{
"created": "2021-05-10T20:39:12.954617+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPEG were changed from Centronuclear myopathy 5, MIM# 615959 to Centronuclear myopathy 5, MIM# 615959; Dilated cardiomyopathy",
"entity_name": "SPEG",
"entity_type": "gene"
},
{
"created": "2021-05-10T20:38:59.898089+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPEG were set to 25087613; 31625632; 30412272; 30157964; 29614691; 29474540; 28624463; 26578207; 25087613",
"entity_name": "SPEG",
"entity_type": "gene"
},
{
"created": "2021-05-10T20:38:30.774956+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SPEG: Added comment: PMIDs 32925938;33794647: Reports of early onset isolated DCM, as well as cardiomyopathy in the context of skeletal myopathy.; Changed publications: 25087613, 31625632, 30412272, 30157964, 29614691, 29474540, 28624463, 26578207, 25087613, 32925938, 33794647; Changed phenotypes: Centronuclear myopathy 5, MIM# 615959, Dilated cardiomyopathy",
"entity_name": "SPEG",
"entity_type": "gene"
},
{
"created": "2021-05-10T18:19:44.006728+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: At least 16 families described, and mouse model supports gene-disease association.; to: CAKUT: At least 16 families described, and mouse model supports gene-disease association.",
"entity_name": "GREB1L",
"entity_type": "gene"
},
{
"created": "2021-05-10T18:08:41.310135+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFB3 as ready",
"entity_name": "NDUFB3",
"entity_type": "gene"
},
{
"created": "2021-05-10T18:08:41.299676+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufb3 has been classified as Red List (Low Evidence).",
"entity_name": "NDUFB3",
"entity_type": "gene"
},
{
"created": "2021-05-10T18:08:37.762119+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFB3 were changed from to Mitochondrial complex I deficiency, nuclear type 25, MIM#618246; MONDO:0032629",
"entity_name": "NDUFB3",
"entity_type": "gene"
},
{
"created": "2021-05-10T18:08:15.118739+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFB3 were set to ",
"entity_name": "NDUFB3",
"entity_type": "gene"
},
{
"created": "2021-05-10T18:07:53.154321+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFB3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFB3",
"entity_type": "gene"
},
{
"created": "2021-05-10T18:07:32.361732+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFB3 as Red List (low evidence)",
"entity_name": "NDUFB3",
"entity_type": "gene"
},
{
"created": "2021-05-10T18:07:32.352652+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufb3 has been classified as Red List (Low Evidence).",
"entity_name": "NDUFB3",
"entity_type": "gene"
},
{
"created": "2021-05-10T18:07:02.973844+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NDUFB3: Rating: RED; Mode of pathogenicity: None; Publications: 22277967, 22499348, 27091925; Phenotypes: Mitochondrial complex I deficiency, nuclear type 25, MIM#618246, MONDO:0032629; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFB3",
"entity_type": "gene"
},
{
"created": "2021-05-10T18:04:51.468369+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFB3 as ready",
"entity_name": "NDUFB3",
"entity_type": "gene"
},
{
"created": "2021-05-10T18:04:51.453205+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufb3 has been classified as Red List (Low Evidence).",
"entity_name": "NDUFB3",
"entity_type": "gene"
},
{
"created": "2021-05-10T18:04:47.818336+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFB3 were changed from to Mitochondrial complex I deficiency, nuclear type 25, MIM# 618246; MONDO:0032629",
"entity_name": "NDUFB3",
"entity_type": "gene"
},
{
"created": "2021-05-10T18:04:19.942393+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFB3 were set to ",
"entity_name": "NDUFB3",
"entity_type": "gene"
},
{
"created": "2021-05-10T18:03:48.565474+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFB3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFB3",
"entity_type": "gene"
},
{
"created": "2021-05-10T18:03:20.691410+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFB3 as Red List (low evidence)",
"entity_name": "NDUFB3",
"entity_type": "gene"
},
{
"created": "2021-05-10T18:03:20.680687+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufb3 has been classified as Red List (Low Evidence).",
"entity_name": "NDUFB3",
"entity_type": "gene"
},
{
"created": "2021-05-10T18:02:57.107110+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NDUFB3: Rating: RED; Mode of pathogenicity: None; Publications: 22499348, 27091925; Phenotypes: Mitochondrial complex I deficiency, nuclear type 25, MIM# 618246, MONDO:0032629; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFB3",
"entity_type": "gene"
},
{
"created": "2021-05-10T18:02:04.632438+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFB3 as ready",
"entity_name": "NDUFB3",
"entity_type": "gene"
},
{
"created": "2021-05-10T18:02:04.623388+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufb3 has been classified as Green List (High Evidence).",
"entity_name": "NDUFB3",
"entity_type": "gene"
},
{
"created": "2021-05-10T18:02:01.856190+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFB3 were changed from to Mitochondrial complex I deficiency, nuclear type 25, MIM# 618246; MONDO:0032629",
"entity_name": "NDUFB3",
"entity_type": "gene"
},
{
"created": "2021-05-10T18:01:37.953006+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFB3 were set to ",
"entity_name": "NDUFB3",
"entity_type": "gene"
},
{
"created": "2021-05-10T18:01:08.253741+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.624",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFB3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFB3",
"entity_type": "gene"
}
]
}