HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1770",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1768",
"results": [
{
"created": "2020-06-15T20:01:59.426327+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP2A1 as ready",
"entity_name": "ATP2A1",
"entity_type": "gene"
},
{
"created": "2020-06-15T20:01:59.416483+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp2a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP2A1",
"entity_type": "gene"
},
{
"created": "2020-06-15T20:01:43.573233+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP2A1 as Amber List (moderate evidence)",
"entity_name": "ATP2A1",
"entity_type": "gene"
},
{
"created": "2020-06-15T20:01:43.564216+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp2a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP2A1",
"entity_type": "gene"
},
{
"created": "2020-06-15T20:01:23.499418+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP2A1 was added\ngene: ATP2A1 was added to Rhabdomyolysis RMH. Sources: Expert list\nMode of inheritance for gene: ATP2A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP2A1 were set to 32040565\nPhenotypes for gene: ATP2A1 were set to Brody myopathy, MIM# 601003\nReview for gene: ATP2A1 was set to AMBER\nAdded comment: Two patients reported with rhabdomyolysis \nSources: Expert list",
"entity_name": "ATP2A1",
"entity_type": "gene"
},
{
"created": "2020-06-15T19:57:34.371790+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SI as ready",
"entity_name": "SI",
"entity_type": "gene"
},
{
"created": "2020-06-15T19:57:34.361704+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: si has been classified as Green List (High Evidence).",
"entity_name": "SI",
"entity_type": "gene"
},
{
"created": "2020-06-15T19:57:26.245402+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SI were changed from to Sucrase-isomaltase deficiency, congenital #222900",
"entity_name": "SI",
"entity_type": "gene"
},
{
"created": "2020-06-15T19:57:05.960007+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3077",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SI were set to ",
"entity_name": "SI",
"entity_type": "gene"
},
{
"created": "2020-06-15T19:56:43.919817+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SI was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "SI",
"entity_type": "gene"
},
{
"created": "2020-06-15T19:48:05.265092+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: B4GAT1 as ready",
"entity_name": "B4GAT1",
"entity_type": "gene"
},
{
"created": "2020-06-15T19:48:05.254064+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b4gat1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "B4GAT1",
"entity_type": "gene"
},
{
"created": "2020-06-15T19:48:00.125109+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: B4GAT1 as Amber List (moderate evidence)",
"entity_name": "B4GAT1",
"entity_type": "gene"
},
{
"created": "2020-06-15T19:48:00.113898+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b4gat1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "B4GAT1",
"entity_type": "gene"
},
{
"created": "2020-06-15T18:33:58.945839+10:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CAV3 as ready",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2020-06-15T18:33:58.932819+10:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cav3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2020-06-15T18:33:56.633810+10:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CAV3 were set to PMID: 32004987; 28807458",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2020-06-15T18:33:26.801637+10:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CAV3 as Amber List (moderate evidence)",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2020-06-15T18:33:26.792525+10:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cav3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2020-06-15T15:08:27.388520+10:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.9",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: CAV3 was added\ngene: CAV3 was added to Familial hypercholesterolaemia. Sources: Literature\nMode of inheritance for gene: CAV3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CAV3 were set to PMID: 32004987; 28807458\nPhenotypes for gene: CAV3 were set to Myopathy, distal, Tateyama type\t614321; Rippling muscle disease 2\t606072\nReview for gene: CAV3 was set to AMBER\nAdded comment: PMID: 32004987 - 1 family (2 siblings) with elevated creatine kinase, myalgia and hypercholesterolemia. Onset was ~30 years old.\r\n\r\nPMID: 28807458 - 1 patient with rippling muscle disease, who remains asymptomatic at 45 years old. Patient also had high LDL and CK levels and therefore hyperlipidemia.\r\n\r\nSummary: 2 patients reported \nSources: Literature",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2020-06-15T13:16:29.219347+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3075",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SV2B as ready",
"entity_name": "SV2B",
"entity_type": "gene"
},
{
"created": "2020-06-15T13:16:29.208885+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3075",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: sv2b has been classified as Red List (Low Evidence).",
"entity_name": "SV2B",
"entity_type": "gene"
},
{
"created": "2020-06-15T13:16:14.943135+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3075",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SV2B was added\ngene: SV2B was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SV2B was set to Unknown\nPublications for gene: SV2B were set to 23617838; 23937191\nPhenotypes for gene: SV2B were set to seizures\nReview for gene: SV2B was set to RED\nAdded comment: Multiply described in Epilepsy studies investigating role of SV2 gene family, however no patients directly attributed to variants in this gene and mouse models indicate viability without seizures. Sources: Literature \nSources: Literature",
"entity_name": "SV2B",
"entity_type": "gene"
},
{
"created": "2020-06-15T13:12:46.365780+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.727",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SV2B as ready",
"entity_name": "SV2B",
"entity_type": "gene"
},
{
"created": "2020-06-15T13:12:46.354032+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.727",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: sv2b has been classified as Red List (Low Evidence).",
"entity_name": "SV2B",
"entity_type": "gene"
},
{
"created": "2020-06-15T13:12:36.026063+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.727",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SV2B was added\ngene: SV2B was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: SV2B was set to Unknown\nPublications for gene: SV2B were set to 23617838; 23937191\nPhenotypes for gene: SV2B were set to seizures\nReview for gene: SV2B was set to RED\nAdded comment: Multiply described in Epilepsy studies investigating role of SV2 gene family, however no patients directly attributed to variants in this gene and mouse models indicate viability without seizures. \nSources: Literature",
"entity_name": "SV2B",
"entity_type": "gene"
},
{
"created": "2020-06-15T12:09:46.943847+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.17",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: B4GAT1 was added\ngene: B4GAT1 was added to Hydrocephalus_Ventriculomegaly. Sources: Expert list\nMode of inheritance for gene: B4GAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: B4GAT1 were set to PMID: 23359570; 23877401\nPhenotypes for gene: B4GAT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13\t615287\nReview for gene: B4GAT1 was set to AMBER\nAdded comment: aka B3GNT1 (OMIM)\r\n\r\nPMID: 23359570 - One family with congenital muscular dystrophy. Index patient had hydrocephalus, seizures, severe hypotonia and retinal dysplasia. Patients were homozygous for TWO missense\r\n\r\nPMID: 23877401 - One family with congenital onset Walker-warburg syndrome and hydrocephalus, seizure and cognitive impairment.\r\n\r\nSummary: 2 families with hydrocephalus \nSources: Expert list",
"entity_name": "B4GAT1",
"entity_type": "gene"
},
{
"created": "2020-06-15T11:11:26.881816+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3074",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ADGRG1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24531968; Phenotypes: Polymicrogyria, bilateral frontoparietal 606854, Polymicrogyria, bilateral perisylvian 615752; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADGRG1",
"entity_type": "gene"
},
{
"created": "2020-06-15T11:09:19.312332+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3074",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: SI: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 3149304, 31557950; Phenotypes: Sucrase-isomaltase deficiency, congenital #222900; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "SI",
"entity_type": "gene"
},
{
"created": "2020-06-15T10:30:41.545343+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3074",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RYR3 as ready",
"entity_name": "RYR3",
"entity_type": "gene"
},
{
"created": "2020-06-15T10:30:41.531508+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3074",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ryr3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RYR3",
"entity_type": "gene"
},
{
"created": "2020-06-15T10:30:15.371038+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3074",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RYR3 as Amber List (moderate evidence)",
"entity_name": "RYR3",
"entity_type": "gene"
},
{
"created": "2020-06-15T10:30:15.355182+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3074",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ryr3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RYR3",
"entity_type": "gene"
},
{
"created": "2020-06-15T10:29:57.396511+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RYR3 was added\ngene: RYR3 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: RYR3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RYR3 were set to 29498452; 32451403; 31230720\nPhenotypes for gene: RYR3 were set to Nemaline myopathy; fetal akinesia; arthrogryposis\nReview for gene: RYR3 was set to AMBER\nAdded comment: One family reported with nemaline myopathy and other cases reported as part of large fetal akinesia/arthrogryposis discovery cohorts reporting multiple novel gene candidates. \nSources: Expert list",
"entity_name": "RYR3",
"entity_type": "gene"
},
{
"created": "2020-06-15T10:11:55.669399+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.61",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: ASCC1 was added\ngene: ASCC1 was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: ASCC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASCC1 were set to PMID: 28218388; 30327447; 26924529\nPhenotypes for gene: ASCC1 were set to Spinal muscular atrophy with congenital bone fractures 2 MIM#616867\nReview for gene: ASCC1 was set to GREEN\nAdded comment: PMID: 28218388 - 1 Portuguese child with a homozygous PTC and mild arthrogryposis, and ongenital generalized hypotonia, lack of spontaneous movements and atrophic muscle fibres. Papers reviews another report (PMID: 26924529) where the Turkish patient also had arthrogryposis and the same homozygous PTC\r\n\r\nPMID: 30327447 - 3 unrelated families with severe prenatal onset muscle weakness, neonatal hypotonia and arthrogryposis. All families had biallelic PTCs, where one family was homozygous and another compound heterozygous for the recurring p.Glu53fs*19 mutation. \nSources: Literature",
"entity_name": "ASCC1",
"entity_type": "gene"
},
{
"created": "2020-06-15T09:29:20.813060+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNE2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNE2",
"entity_type": "gene"
},
{
"created": "2020-06-14T20:02:41.934858+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3072",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN3A as ready",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2020-06-14T20:02:41.925255+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3072",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn3a has been classified as Green List (High Evidence).",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2020-06-14T20:02:32.437730+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3072",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCN3A were changed from to Epilepsy, familial focal, with variable foci 4, MIM# 617935; Epileptic encephalopathy, early infantile, 62, MIM# 617938; Intellectual disability; Malformations of cortical development",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2020-06-14T20:02:04.448943+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCN3A were set to ",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2020-06-14T20:01:42.014902+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: SCN3A was changed from to Other",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2020-06-14T20:01:22.285925+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCN3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2020-06-14T20:01:00.588332+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SCN3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32515017; Phenotypes: Epilepsy, familial focal, with variable foci 4, MIM# 617935, Epileptic encephalopathy, early infantile, 62, MIM# 617938, Intellectual disability, Malformations of cortical development; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2020-06-14T20:00:03.200899+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2698",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN3A as ready",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2020-06-14T20:00:03.191156+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2698",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn3a has been classified as Green List (High Evidence).",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2020-06-14T19:59:57.595169+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2698",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCN3A were changed from to Epilepsy, familial focal, with variable foci 4, MIM# 617935; Epileptic encephalopathy, early infantile, 62, MIM# 617938; Intellectual disability; Malformations of cortical development",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2020-06-14T19:59:24.741041+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2697",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCN3A were set to ",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2020-06-14T19:58:51.561173+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2696",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: SCN3A was changed from to Other",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2020-06-14T19:58:07.151184+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2695",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCN3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2020-06-14T19:57:32.210993+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2694",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SCN3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32515017; Phenotypes: Epilepsy, familial focal, with variable foci 4, MIM# 617935, Epileptic encephalopathy, early infantile, 62, MIM# 617938, Intellectual disability, Malformations of cortical development; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2020-06-14T19:56:12.467774+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.726",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN3A as ready",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2020-06-14T19:56:12.458379+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.726",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn3a has been classified as Green List (High Evidence).",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2020-06-14T19:56:09.108705+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.726",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCN3A were changed from to Epilepsy, familial focal, with variable foci 4, MIM# 617935; Epileptic encephalopathy, early infantile, 62, MIM# 617938; Intellectual disability; Malformations of cortical development",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2020-06-14T19:55:30.949000+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCN3A were set to ",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2020-06-14T19:54:58.293782+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.724",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: SCN3A was changed from to Other",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2020-06-14T19:54:29.871096+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.723",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCN3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2020-06-14T19:53:57.528157+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.722",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SCN3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32515017; Phenotypes: Epilepsy, familial focal, with variable foci 4, MIM# 617935, Epileptic encephalopathy, early infantile, 62, MIM# 617938, Intellectual disability, Malformations of cortical development; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2020-06-14T17:56:31.537629+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HMGA2 were changed from Silver-Russel syndrome to Silver-Russel syndrome, MIM#618908",
"entity_name": "HMGA2",
"entity_type": "gene"
},
{
"created": "2020-06-14T17:56:06.450003+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3067",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HMGA2 were set to 29655892; 25809938",
"entity_name": "HMGA2",
"entity_type": "gene"
},
{
"created": "2020-06-14T17:55:39.597319+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3066",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HMGA2 as Green List (high evidence)",
"entity_name": "HMGA2",
"entity_type": "gene"
},
{
"created": "2020-06-14T17:55:39.584764+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3066",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hmga2 has been classified as Green List (High Evidence).",
"entity_name": "HMGA2",
"entity_type": "gene"
},
{
"created": "2020-06-14T17:55:17.452001+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3065",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HMGA2: Added comment: At least four families reported with SNVs.; Changed rating: GREEN; Changed publications: 29655892, 25809938, 29453418, 29655892, 28796236; Changed phenotypes: Silver-Russel syndrome, MIM#618908",
"entity_name": "HMGA2",
"entity_type": "gene"
},
{
"created": "2020-06-14T17:51:28.359371+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3065",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLAG1 as ready",
"entity_name": "PLAG1",
"entity_type": "gene"
},
{
"created": "2020-06-14T17:51:28.344823+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3065",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plag1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PLAG1",
"entity_type": "gene"
},
{
"created": "2020-06-14T17:51:19.984770+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3065",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLAG1 were changed from to Silver-Russell syndrome, MIM#618907",
"entity_name": "PLAG1",
"entity_type": "gene"
},
{
"created": "2020-06-14T17:51:01.167669+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLAG1 were set to ",
"entity_name": "PLAG1",
"entity_type": "gene"
},
{
"created": "2020-06-14T17:50:40.866066+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PLAG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PLAG1",
"entity_type": "gene"
},
{
"created": "2020-06-14T17:50:20.526569+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLAG1 as Amber List (moderate evidence)",
"entity_name": "PLAG1",
"entity_type": "gene"
},
{
"created": "2020-06-14T17:50:20.517328+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plag1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PLAG1",
"entity_type": "gene"
},
{
"created": "2020-06-14T17:50:01.839421+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3061",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PLAG1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28796236, 29913240; Phenotypes: Silver-Russell syndrome, MIM#618907; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PLAG1",
"entity_type": "gene"
},
{
"created": "2020-06-14T17:41:05.175279+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MEFV as ready",
"entity_name": "MEFV",
"entity_type": "gene"
},
{
"created": "2020-06-14T17:41:05.162776+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mefv has been classified as Green List (High Evidence).",
"entity_name": "MEFV",
"entity_type": "gene"
},
{
"created": "2020-06-14T17:41:01.227434+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MEFV were changed from to Familial Mediterranean fever, AD, MIM# 134610; Familial Mediterranean fever, AR, MIM# 249100; Neutrophilic dermatosis, MIM#608068",
"entity_name": "MEFV",
"entity_type": "gene"
},
{
"created": "2020-06-14T17:40:29.114797+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MEFV were set to ",
"entity_name": "MEFV",
"entity_type": "gene"
},
{
"created": "2020-06-14T17:39:29.177558+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MEFV was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MEFV",
"entity_type": "gene"
},
{
"created": "2020-06-14T17:37:41.174214+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MEFV: Rating: GREEN; Mode of pathogenicity: None; Publications: 27030597, 28835462; Phenotypes: Familial Mediterranean fever, AD, MIM# 134610, Familial Mediterranean fever, AR, MIM# 249100, Neutrophilic dermatosis, MIM#608068; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MEFV",
"entity_type": "gene"
},
{
"created": "2020-06-13T18:00:53.196730+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2694",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF1BP as ready",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2020-06-13T18:00:53.192054+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2694",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: HGNC approved name KIFBP.",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2020-06-13T18:00:53.171570+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2694",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif1bp has been classified as Green List (High Evidence).",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2020-06-13T18:00:32.537502+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2694",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: KIF1BP.",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2020-06-13T17:59:51.157875+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF1BP as ready",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2020-06-13T17:59:51.153530+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: HGNC approved name is KIFBP.",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2020-06-13T17:59:51.122202+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif1bp has been classified as Green List (High Evidence).",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2020-06-13T17:59:38.886613+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF1BP were changed from Goldberg-Shprintzen megacolon syndrome MIM#609460 to Goldberg-Shprintzen megacolon syndrome MIM#609460",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2020-06-13T17:59:14.875847+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF1BP were changed from to Goldberg-Shprintzen megacolon syndrome MIM#609460",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2020-06-13T17:58:53.383989+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIF1BP was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2020-06-13T17:58:32.337076+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIF1BP was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2020-06-13T17:58:07.641715+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIF1BP were set to ",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2020-06-13T17:58:04.688361+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: KIF1BP.",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2020-06-13T17:57:32.759358+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIF1BP was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2020-06-13T17:57:12.325086+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIF1BP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2020-06-13T17:55:58.199608+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3061",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NEFH as ready",
"entity_name": "NEFH",
"entity_type": "gene"
},
{
"created": "2020-06-13T17:55:58.186847+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3061",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nefh has been classified as Green List (High Evidence).",
"entity_name": "NEFH",
"entity_type": "gene"
},
{
"created": "2020-06-13T17:55:47.751441+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3061",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NEFH were changed from to Charcot-Marie-Tooth disease, axonal, type 2CC, MIM#616924",
"entity_name": "NEFH",
"entity_type": "gene"
},
{
"created": "2020-06-13T17:55:23.413913+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3060",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NEFH were set to ",
"entity_name": "NEFH",
"entity_type": "gene"
},
{
"created": "2020-06-13T17:54:51.181520+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3059",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: NEFH was changed from to Other",
"entity_name": "NEFH",
"entity_type": "gene"
},
{
"created": "2020-06-13T17:54:31.371631+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NEFH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NEFH",
"entity_type": "gene"
},
{
"created": "2020-06-13T17:53:35.133550+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2694",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC6A1 as ready",
"entity_name": "SLC6A1",
"entity_type": "gene"
},
{
"created": "2020-06-13T17:53:35.121497+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2694",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc6a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC6A1",
"entity_type": "gene"
},
{
"created": "2020-06-13T17:53:29.077830+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2694",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC6A1 were changed from to Myoclonic-atonic epilepsy, MIM#616421",
"entity_name": "SLC6A1",
"entity_type": "gene"
}
]
}