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{
"count": 220324,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1320",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1318",
"results": [
{
"created": "2021-05-21T20:47:14.510025+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3783",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SBF1 were changed from Charcot-Marie-Tooth disease, type 4B3, MIM# 615284 to Charcot-Marie-Tooth disease, type 4B3, MIM# 615284; MONDO:0014117",
"entity_name": "SBF1",
"entity_type": "gene"
},
{
"created": "2021-05-21T20:46:43.753432+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3782",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SBF1: Changed phenotypes: Charcot-Marie-Tooth disease, type 4B3, MIM# 615284, MONDO:0014117",
"entity_name": "SBF1",
"entity_type": "gene"
},
{
"created": "2021-05-21T20:45:59.831633+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SBF1 as ready",
"entity_name": "SBF1",
"entity_type": "gene"
},
{
"created": "2021-05-21T20:45:59.820159+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sbf1 has been classified as Green List (High Evidence).",
"entity_name": "SBF1",
"entity_type": "gene"
},
{
"created": "2021-05-21T20:45:46.565348+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SBF1 as Green List (high evidence)",
"entity_name": "SBF1",
"entity_type": "gene"
},
{
"created": "2021-05-21T20:45:46.555284+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sbf1 has been classified as Green List (High Evidence).",
"entity_name": "SBF1",
"entity_type": "gene"
},
{
"created": "2021-05-21T20:45:29.589252+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7661",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SBF1 as ready",
"entity_name": "SBF1",
"entity_type": "gene"
},
{
"created": "2021-05-21T20:45:29.580416+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7661",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sbf1 has been classified as Green List (High Evidence).",
"entity_name": "SBF1",
"entity_type": "gene"
},
{
"created": "2021-05-21T20:45:28.405337+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SBF1 was added\ngene: SBF1 was added to Hereditary Neuropathy - complex. Sources: Expert Review\nMode of inheritance for gene: SBF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SBF1 were set to 23749797; 23749797; 32444983; 30039846; 28005197\nPhenotypes for gene: SBF1 were set to Charcot-Marie-Tooth disease, type 4B3 , MIM#615284; MONDO:0014117\nReview for gene: SBF1 was set to GREEN\nAdded comment: At least 5 unrelated families reported. Some with isolated neuropathy and others with additional neurological and syndromic features, including DD/ID and congenital anomalies. \nSources: Expert Review",
"entity_name": "SBF1",
"entity_type": "gene"
},
{
"created": "2021-05-21T20:45:08.842966+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7661",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SBF1 were changed from to Charcot-Marie-Tooth disease, type 4B3 , MIM#615284; MONDO:0014117",
"entity_name": "SBF1",
"entity_type": "gene"
},
{
"created": "2021-05-21T20:44:49.777178+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SBF1 were set to ",
"entity_name": "SBF1",
"entity_type": "gene"
},
{
"created": "2021-05-21T20:44:06.618396+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7659",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SBF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SBF1",
"entity_type": "gene"
},
{
"created": "2021-05-21T20:42:48.381513+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7658",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SBF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23749797, 23749797, 32444983, 30039846, 28005197; Phenotypes: Charcot-Marie-Tooth disease, type 4B3 , MIM#615284, MONDO:0014117; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SBF1",
"entity_type": "gene"
},
{
"created": "2021-05-21T19:58:55.607190+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7658",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SBF2 as ready",
"entity_name": "SBF2",
"entity_type": "gene"
},
{
"created": "2021-05-21T19:58:55.596489+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7658",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sbf2 has been classified as Green List (High Evidence).",
"entity_name": "SBF2",
"entity_type": "gene"
},
{
"created": "2021-05-21T19:58:45.249753+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7658",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SBF2 were changed from to Charcot-Marie-Tooth disease, type 4B2 , MIM#604563",
"entity_name": "SBF2",
"entity_type": "gene"
},
{
"created": "2021-05-21T19:58:28.665591+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7657",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SBF2 were set to ",
"entity_name": "SBF2",
"entity_type": "gene"
},
{
"created": "2021-05-21T19:58:10.548101+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7656",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SBF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SBF2",
"entity_type": "gene"
},
{
"created": "2021-05-21T19:57:52.164918+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SBF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12554688, 15477569, 12687498, 15304601, 31772832, 31070812; Phenotypes: Charcot-Marie-Tooth disease, type 4B2 , MIM#604563; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SBF2",
"entity_type": "gene"
},
{
"created": "2021-05-21T19:52:46.466567+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN10A as ready",
"entity_name": "SCN10A",
"entity_type": "gene"
},
{
"created": "2021-05-21T19:52:46.454241+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn10a has been classified as Green List (High Evidence).",
"entity_name": "SCN10A",
"entity_type": "gene"
},
{
"created": "2021-05-21T19:52:37.290586+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCN10A were changed from to Episodic pain syndrome, familial, 2, MIM# 615551",
"entity_name": "SCN10A",
"entity_type": "gene"
},
{
"created": "2021-05-21T19:52:18.828676+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCN10A were set to ",
"entity_name": "SCN10A",
"entity_type": "gene"
},
{
"created": "2021-05-21T19:51:59.208864+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7653",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCN10A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN10A",
"entity_type": "gene"
},
{
"created": "2021-05-21T19:51:41.470929+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SCN10A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23115331, 33775738, 30731422, 30554136; Phenotypes: Episodic pain syndrome, familial, 2, MIM# 615551; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN10A",
"entity_type": "gene"
},
{
"created": "2021-05-21T19:51:03.375858+10:00",
"panel_name": "Pain syndromes",
"panel_id": 3126,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN10A as ready",
"entity_name": "SCN10A",
"entity_type": "gene"
},
{
"created": "2021-05-21T19:51:03.362550+10:00",
"panel_name": "Pain syndromes",
"panel_id": 3126,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn10a has been classified as Green List (High Evidence).",
"entity_name": "SCN10A",
"entity_type": "gene"
},
{
"created": "2021-05-21T19:51:01.324658+10:00",
"panel_name": "Pain syndromes",
"panel_id": 3126,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCN10A were changed from Small fibre neuropathy; Painful small fibre neuropathy; SFN; Episodic pain syndrome, familial, 2, 615551; Familial episodic pain syndrome-2 to Small fibre neuropathy; Episodic pain syndrome, familial, 2, MIM# 615551",
"entity_name": "SCN10A",
"entity_type": "gene"
},
{
"created": "2021-05-21T19:50:49.600767+10:00",
"panel_name": "Pain syndromes",
"panel_id": 3126,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCN10A were set to 23115331; 26711856; 24776970; 25316021; 25250524; 24006052; 28665811; 27598514; 24813307",
"entity_name": "SCN10A",
"entity_type": "gene"
},
{
"created": "2021-05-21T19:50:26.968391+10:00",
"panel_name": "Pain syndromes",
"panel_id": 3126,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SCN10A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23115331, 33775738, 30731422, 30554136; Phenotypes: Episodic pain syndrome, familial, 2, MIM# 615551; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN10A",
"entity_type": "gene"
},
{
"created": "2021-05-21T19:46:13.264465+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNA2 as ready",
"entity_name": "KCNA2",
"entity_type": "gene"
},
{
"created": "2021-05-21T19:46:13.242119+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcna2 has been classified as Green List (High Evidence).",
"entity_name": "KCNA2",
"entity_type": "gene"
},
{
"created": "2021-05-21T19:46:10.758972+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNA2 were changed from to Early infantile encephalopathy 32, MIM#616366",
"entity_name": "KCNA2",
"entity_type": "gene"
},
{
"created": "2021-05-21T19:45:43.216039+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNA2 were set to ",
"entity_name": "KCNA2",
"entity_type": "gene"
},
{
"created": "2021-05-21T19:45:20.163943+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNA2",
"entity_type": "gene"
},
{
"created": "2021-05-21T19:44:55.282501+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29050392, 27062609; Phenotypes: Early infantile encephalopathy 32, MIM#616366; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNA2",
"entity_type": "gene"
},
{
"created": "2021-05-21T18:18:59.688125+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-05-21T18:16:51.109033+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-05-21T18:15:31.724471+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMARCAL1 as ready",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2021-05-21T18:15:31.713235+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarcal1 has been classified as Green List (High Evidence).",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2021-05-21T18:14:41.879662+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TREX1 as ready",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2021-05-21T18:14:41.868417+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trex1 has been classified as Green List (High Evidence).",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2021-05-21T18:14:37.563862+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TREX1 were changed from Vasculopathy, retinal, with cerebral leukodystrophy to Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations, MIM# 192315",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2021-05-21T18:14:23.639771+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations, MIM# 192315; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2021-05-21T18:13:24.757868+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STIM1 as ready",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2021-05-21T18:13:24.748895+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stim1 has been classified as Green List (High Evidence).",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2021-05-21T18:13:22.046446+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STIM1 were changed from Stormorken syndrome to Stormorken syndrome, MIM# 185070",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2021-05-21T18:13:09.000499+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stormorken syndrome, MIM# 185070; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2021-05-21T18:11:59.128374+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMAD4 as ready",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2021-05-21T18:11:59.114354+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smad4 has been classified as Green List (High Evidence).",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2021-05-21T18:10:13.519582+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM# 175050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2021-05-21T18:06:02.119889+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYCN as ready",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2021-05-21T18:06:02.108352+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mycn has been classified as Red List (Low Evidence).",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2021-05-21T18:05:56.350302+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYCN as Red List (low evidence)",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2021-05-21T18:05:56.338799+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mycn has been classified as Red List (Low Evidence).",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2021-05-21T14:21:59.283927+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7652",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: KCNA2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 33802230, 29050392; Phenotypes: Developmental and epileptic encephalopathy 32, MIM#616366; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "KCNA2",
"entity_type": "gene"
},
{
"created": "2021-05-21T11:55:31.184093+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7652",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "reviewed gene: MYCN: Rating: GREEN; Mode of pathogenicity: None; Publications: 21224895, 8470948; Phenotypes: Feingold syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2021-05-21T11:47:42.592164+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.71",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "gene: MYCN was added\ngene: MYCN was added to Macrocephaly_Megalencephaly. Sources: Literature\nMode of inheritance for gene: MYCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MYCN were set to 30573562\nPhenotypes for gene: MYCN were set to Neurodevelopmental disorder with megalencephaly\nMode of pathogenicity for gene: MYCN was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: MYCN was set to RED\nAdded comment: Single report of a de novo missense p.T58M in an individual with a novel megalencephaly syndrome, a Japanese boy with an intellectual disability (ID), distinctive facies, megalencephaly, ventriculomegaly, hypoplastic corpus callosum, postnatal growth retardation, postaxial polydactyly and neuroblastoma. \r\n\r\nBiochemical and cell biology experiments revealed that the mutation renders MYCN resistant to proteolysis and may improperly potentiate cortical neuron proliferation. MYCN activity regulates granule neuron proliferation through induction of CCND1 and CCND2, and this syndrome was similar to CCND2 gene abnormalities that impart excessive protein stability cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. This residue is also frequently mutated in c-Myc in Burkitt’s lymphoma (also due to GoF by gene amplification), consistent with its functions in cell proliferation and differentiation. \nSources: Literature",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2021-05-21T10:02:59.049512+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3782",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBC1D2B were changed from Global developmental delay; Intellectual disability; Seizures; Gingival overgrowth; Behavioral abnormality; Abnormality of the mandible; Abnormality of brain morphology; Abnormality of the eye; Hearing abnormality to Neurodevelopmental disorder with seizures and gingival overgrowth (NEDSGO), MIM#619323; Global developmental delay; Intellectual disability; Seizures; Gingival overgrowth; Behavioral abnormality; Abnormality of the mandible; Abnormality of brain morphology; Abnormality of the eye; Hearing abnormality",
"entity_name": "TBC1D2B",
"entity_type": "gene"
},
{
"created": "2021-05-21T10:02:23.922989+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3781",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBC1D2B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with seizures and gingival overgrowth (NEDSGO), MIM#619323; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBC1D2B",
"entity_type": "gene"
},
{
"created": "2021-05-21T10:02:03.769374+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1084",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBC1D2B were changed from Global developmental delay; Intellectual disability; Seizures; Gingival overgrowth; Behavioral abnormality; Abnormality of the mandible; Abnormality of brain morphology; Abnormality of the eye; Hearing abnormality to Neurodevelopmental disorder with seizures and gingival overgrowth (NEDSGO), MIM#619323; Global developmental delay; Intellectual disability; Seizures; Gingival overgrowth; Behavioral abnormality; Abnormality of the mandible; Abnormality of brain morphology; Abnormality of the eye; Hearing abnormality",
"entity_name": "TBC1D2B",
"entity_type": "gene"
},
{
"created": "2021-05-21T10:01:33.046107+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1083",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBC1D2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with seizures and gingival overgrowth (NEDSGO), MIM#619323; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBC1D2B",
"entity_type": "gene"
},
{
"created": "2021-05-21T10:00:47.926530+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBC1D2B were changed from Global developmental delay; Intellectual disability; Seizures; Gingival overgrowth; Behavioral abnormality; Abnormality of the mandible; Abnormality of brain morphology; Abnormality of the eye; Hearing abnormality to Neurodevelopmental disorder with seizures and gingival overgrowth (NEDSGO), MIM#619323; Global developmental delay; Intellectual disability; Seizures; Gingival overgrowth; Behavioral abnormality; Abnormality of the mandible; Abnormality of brain morphology; Abnormality of the eye; Hearing abnormality",
"entity_name": "TBC1D2B",
"entity_type": "gene"
},
{
"created": "2021-05-21T10:00:25.110200+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TBC1D2B: Changed phenotypes: Neurodevelopmental disorder with seizures and gingival overgrowth (NEDSGO), MIM#619323, Global developmental delay, Intellectual disability, Seizures, Gingival overgrowth, Behavioral abnormality, Abnormality of the mandible, Abnormality of brain morphology, Abnormality of the eye, Hearing abnormality",
"entity_name": "TBC1D2B",
"entity_type": "gene"
},
{
"created": "2021-05-20T09:44:41.744384+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL5A1 as ready",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2021-05-20T09:44:41.733631+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col5a1 has been classified as Green List (High Evidence).",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2021-05-20T09:43:55.495589+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL5A1 were changed from to Ehlers-Danlos syndrome, classic type, 1, MIM# 130000; Fibromuscular dysplasia, multifocal, MIM# 619329",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2021-05-20T09:43:36.675231+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7650",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL5A1 were set to ",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2021-05-20T09:43:15.161866+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7649",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL5A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2021-05-20T09:42:57.104405+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30071989, 32938213; Phenotypes: Ehlers-Danlos syndrome, classic type, 1, MIM# 130000, Fibromuscular dysplasia, multifocal, MIM# 619329; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2021-05-20T09:40:46.518703+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL5A1 were changed from Ehlers-Danlos syndrome, classic type, 1, MIM#\t130000 to Ehlers-Danlos syndrome, classic type, 1, MIM#\t130000; Fibromuscular dysplasia, multifocal, MIM# 619329",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2021-05-20T09:40:28.386729+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL5A1 were set to 30071989",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2021-05-20T09:40:01.630857+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32938213; Phenotypes: Fibromuscular dysplasia, multifocal, MIM# 619329; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2021-05-20T09:36:05.066805+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3781",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN1A as ready",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2021-05-20T09:36:05.055735+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3781",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn1a has been classified as Green List (High Evidence).",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2021-05-20T09:36:01.099176+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3781",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCN1A were changed from to Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208 Developmental and epileptic encephalopathy 6B, non-Dravet, MIM# 619317",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2021-05-20T09:35:19.076871+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3780",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SCN1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208 Developmental and epileptic encephalopathy 6B, non-Dravet, MIM# 619317; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2021-05-20T09:34:29.633886+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1083",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCN1A were changed from Epilepsy, generalized, with febrile seizures plus, type 2 604403; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208; Febrile seizures, familial, 3A 604403 to Epilepsy, generalized, with febrile seizures plus, type 2 604403; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208; Developmental and epileptic encephalopathy 6B, non-Dravet, MIM# 619317; Febrile seizures, familial, 3A 604403",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2021-05-20T09:33:54.415382+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1082",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SCN1A: Changed phenotypes: Epilepsy, generalized, with febrile seizures plus, type 2 604403, Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208, Developmental and epileptic encephalopathy 6B, non-Dravet, MIM# 619317, Febrile seizures, familial, 3A 604403",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2021-05-20T09:33:19.167074+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCN1A were changed from Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208; Genetic Epilepsy Febrile Seizures plus (GEFS+) Syndrome; Febrile seizures; Arthrogryposis multiplex congenita to Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208; Developmental and epileptic encephalopathy 6B, non-Dravet, MIM# 619317; Genetic Epilepsy Febrile Seizures plus (GEFS+) Syndrome; Febrile seizures; Arthrogryposis multiplex congenita",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2021-05-20T09:32:47.809199+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SCN1A: Changed phenotypes: Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208, Developmental and epileptic encephalopathy 6B, non-Dravet, MIM# 619317, Genetic Epilepsy Febrile Seizures plus (GEFS+) Syndrome, Febrile seizures, Arthrogryposis multiplex congenita",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2021-05-20T09:31:24.908949+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3780",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KDM4B were changed from Global developmental delay, intellectual disability and neuroanatomical defects to Intellectual developmental disorder, autosomal dominant 65, MIM# 619320; Global developmental delay, intellectual disability and neuroanatomical defects",
"entity_name": "KDM4B",
"entity_type": "gene"
},
{
"created": "2021-05-20T09:30:55.203556+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3779",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KDM4B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal dominant 65, MIM# 619320; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KDM4B",
"entity_type": "gene"
},
{
"created": "2021-05-20T09:30:35.981857+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1082",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KDM4B were changed from Global developmental delay, intellectual disability and neuroanatomical defects to Intellectual developmental disorder, autosomal dominant 65, MIM# 619320; Global developmental delay, intellectual disability and neuroanatomical defects",
"entity_name": "KDM4B",
"entity_type": "gene"
},
{
"created": "2021-05-20T09:30:02.933433+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KDM4B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal dominant 65, MIM# 619320; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KDM4B",
"entity_type": "gene"
},
{
"created": "2021-05-20T09:29:43.502370+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KDM4B were changed from Global developmental delay, intellectual disability and neuroanatomical defects to Intellectual developmental disorder, autosomal dominant 65, MIM# 619320; Global developmental delay, intellectual disability and neuroanatomical defects",
"entity_name": "KDM4B",
"entity_type": "gene"
},
{
"created": "2021-05-20T09:29:20.045045+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KDM4B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal dominant 65, MIM# 619320; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KDM4B",
"entity_type": "gene"
},
{
"created": "2021-05-19T20:52:56.297456+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DKC1 as ready",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2021-05-19T20:52:56.282869+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dkc1 has been classified as Green List (High Evidence).",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2021-05-19T20:52:53.417477+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DKC1 were changed from to Dyskeratosis congenita, X-linked 305000; Hoyeraal-Hreidarsson Syndrome",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2021-05-19T20:50:55.381135+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DKC1 were set to ",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2021-05-19T20:50:27.735834+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DKC1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2021-05-19T20:49:54.360174+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31269755, 26951492, 29081935, 25940403; Phenotypes: Dyskeratosis congenita, X-linked 305000, Hoyeraal-Hreidarsson Syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2021-05-19T20:49:12.084133+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DKC1 as ready",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2021-05-19T20:49:12.073469+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dkc1 has been classified as Green List (High Evidence).",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2021-05-19T20:49:02.218962+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DKC1 were changed from to Dyskeratosis congenita, X-linked 305000; Hoyeraal-Hreidarsson Syndrome",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2021-05-19T20:48:45.143345+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7645",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DKC1 were set to ",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2021-05-19T20:48:22.227822+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7644",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DKC1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2021-05-19T20:48:03.533720+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31269755, 26951492, 29081935, 25940403; Phenotypes: Dyskeratosis congenita, X-linked 305000, Hoyeraal-Hreidarsson Syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2021-05-19T20:45:44.774564+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DKC1 were set to PMID: 31269755; 26951492; 29081935",
"entity_name": "DKC1",
"entity_type": "gene"
}
]
}