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{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2005",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2003",
"results": [
{
"created": "2020-01-04T17:50:43.002908+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: odc1 has been classified as Green List (High Evidence).",
"entity_name": "ODC1",
"entity_type": "gene"
},
{
"created": "2020-01-04T17:50:35.518932+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ODC1 as Green List (high evidence)",
"entity_name": "ODC1",
"entity_type": "gene"
},
{
"created": "2020-01-04T17:50:35.506356+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: odc1 has been classified as Green List (High Evidence).",
"entity_name": "ODC1",
"entity_type": "gene"
},
{
"created": "2020-01-04T17:50:19.223231+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ODC1 was added\ngene: ODC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: ODC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ODC1 were set to 30475435\nPhenotypes for gene: ODC1 were set to Intellectual disability; macrocephaly; dysmorphism\nMode of pathogenicity for gene: ODC1 was set to Other\nReview for gene: ODC1 was set to GREEN\nAdded comment: Four individuals with de novo GoF variants in this gene reported. \nSources: Literature",
"entity_name": "ODC1",
"entity_type": "gene"
},
{
"created": "2020-01-04T17:46:11.341887+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RALA as ready",
"entity_name": "RALA",
"entity_type": "gene"
},
{
"created": "2020-01-04T17:46:11.329603+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rala has been classified as Green List (High Evidence).",
"entity_name": "RALA",
"entity_type": "gene"
},
{
"created": "2020-01-04T17:46:04.461849+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RALA as Green List (high evidence)",
"entity_name": "RALA",
"entity_type": "gene"
},
{
"created": "2020-01-04T17:46:04.447381+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rala has been classified as Green List (High Evidence).",
"entity_name": "RALA",
"entity_type": "gene"
},
{
"created": "2020-01-04T17:45:50.076558+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RALA was added\ngene: RALA was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: RALA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RALA were set to 30500825\nPhenotypes for gene: RALA were set to Intellectual disability; short stature; dysmorphism\nReview for gene: RALA was set to GREEN\nAdded comment: Ten individuals with de novo variants in this gene, six of these at two codons only: Val25 and Lys128. \nSources: Literature",
"entity_name": "RALA",
"entity_type": "gene"
},
{
"created": "2020-01-04T17:33:51.524523+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LSS were changed from Cataract 44, OMIM #616509; Hypotrichosis 14, OMIM #618275 to Cataract 44, OMIM #616509; Hypotrichosis 14, OMIM #618275; intellectual disability and alopecia",
"entity_name": "LSS",
"entity_type": "gene"
},
{
"created": "2020-01-04T17:22:29.068911+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: P4HTM as ready",
"entity_name": "P4HTM",
"entity_type": "gene"
},
{
"created": "2020-01-04T17:22:29.057351+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: p4htm has been classified as Green List (High Evidence).",
"entity_name": "P4HTM",
"entity_type": "gene"
},
{
"created": "2020-01-04T17:22:22.841977+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: P4HTM as Green List (high evidence)",
"entity_name": "P4HTM",
"entity_type": "gene"
},
{
"created": "2020-01-04T17:22:22.827982+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: p4htm has been classified as Green List (High Evidence).",
"entity_name": "P4HTM",
"entity_type": "gene"
},
{
"created": "2020-01-04T17:21:44.053612+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: P4HTM was added\ngene: P4HTM was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature\nMode of inheritance for gene: P4HTM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: P4HTM were set to 25078763; 30940925\nPhenotypes for gene: P4HTM were set to Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities; OMIM #618493\nReview for gene: P4HTM was set to GREEN\nAdded comment: 12 patients from 5 families with hypotonia, intellectual disability, and eye abnormalities, and homozygous or compound heterozygous pathogenic P4HTM gene variants. Segregated with the disorder in the families. In vitro functional expression studies of 3 of the P4HTM variants showed that they caused a significant decrease in the amount of soluble protein compared to wildtype. \nSources: Literature",
"entity_name": "P4HTM",
"entity_type": "gene"
},
{
"created": "2020-01-04T17:03:58.545429+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SETD1A as ready",
"entity_name": "SETD1A",
"entity_type": "gene"
},
{
"created": "2020-01-04T17:03:58.533289+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: setd1a has been classified as Green List (High Evidence).",
"entity_name": "SETD1A",
"entity_type": "gene"
},
{
"created": "2020-01-04T17:03:36.278229+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SETD1A as Green List (high evidence)",
"entity_name": "SETD1A",
"entity_type": "gene"
},
{
"created": "2020-01-04T17:03:36.263333+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: setd1a has been classified as Green List (High Evidence).",
"entity_name": "SETD1A",
"entity_type": "gene"
},
{
"created": "2020-01-04T17:02:41.943108+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SETD1A was added\ngene: SETD1A was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature\nMode of inheritance for gene: SETD1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SETD1A were set to 31197650\nPhenotypes for gene: SETD1A were set to Epilepsy\nReview for gene: SETD1A was set to GREEN\nAdded comment: Four unrelated families reported: in three, the variants occurred de novo, and in the fourth, it segregated with disease. Some functional data. \nSources: Literature",
"entity_name": "SETD1A",
"entity_type": "gene"
},
{
"created": "2020-01-04T14:00:58.793864+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPIA as ready",
"entity_name": "RPIA",
"entity_type": "gene"
},
{
"created": "2020-01-04T14:00:58.781534+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpia has been classified as Green List (High Evidence).",
"entity_name": "RPIA",
"entity_type": "gene"
},
{
"created": "2020-01-04T14:00:48.844277+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPIA were changed from to Ribose 5-phosphate isomerase deficiency, MIM#\t608611",
"entity_name": "RPIA",
"entity_type": "gene"
},
{
"created": "2020-01-04T14:00:31.231846+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPIA were set to ",
"entity_name": "RPIA",
"entity_type": "gene"
},
{
"created": "2020-01-04T14:00:11.393203+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPIA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RPIA",
"entity_type": "gene"
},
{
"created": "2020-01-04T13:52:40.291638+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRPM3 as ready",
"entity_name": "TRPM3",
"entity_type": "gene"
},
{
"created": "2020-01-04T13:52:40.280539+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trpm3 has been classified as Green List (High Evidence).",
"entity_name": "TRPM3",
"entity_type": "gene"
},
{
"created": "2020-01-04T13:52:28.709947+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRPM3 as Green List (high evidence)",
"entity_name": "TRPM3",
"entity_type": "gene"
},
{
"created": "2020-01-04T13:52:28.698721+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trpm3 has been classified as Green List (High Evidence).",
"entity_name": "TRPM3",
"entity_type": "gene"
},
{
"created": "2020-01-04T13:52:00.372037+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.624",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRPM3 was added\ngene: TRPM3 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: TRPM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRPM3 were set to 31278393\nPhenotypes for gene: TRPM3 were set to Intellectual disability; epilepsy\nReview for gene: TRPM3 was set to GREEN\nAdded comment: 8 unrelated individuals with de novo variants in this gene. Recurrent variant p.(Val837Met) identified in 7/8. \nSources: Literature",
"entity_name": "TRPM3",
"entity_type": "gene"
},
{
"created": "2020-01-04T13:50:19.170294+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRPM3 as ready",
"entity_name": "TRPM3",
"entity_type": "gene"
},
{
"created": "2020-01-04T13:50:19.157044+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trpm3 has been classified as Green List (High Evidence).",
"entity_name": "TRPM3",
"entity_type": "gene"
},
{
"created": "2020-01-04T13:49:06.419143+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRPM3 as Green List (high evidence)",
"entity_name": "TRPM3",
"entity_type": "gene"
},
{
"created": "2020-01-04T13:49:06.404982+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trpm3 has been classified as Green List (High Evidence).",
"entity_name": "TRPM3",
"entity_type": "gene"
},
{
"created": "2020-01-04T13:47:49.180098+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRPM3 as Green List (high evidence)",
"entity_name": "TRPM3",
"entity_type": "gene"
},
{
"created": "2020-01-04T13:47:49.161581+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trpm3 has been classified as Green List (High Evidence).",
"entity_name": "TRPM3",
"entity_type": "gene"
},
{
"created": "2020-01-04T13:47:21.662440+11:00",
"panel_name": "Polymicrogyria and schizencephaly_AustralianGenomics_VCGS",
"panel_id": 18,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP1A2 as ready",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2020-01-04T13:47:21.637180+11:00",
"panel_name": "Polymicrogyria and schizencephaly_AustralianGenomics_VCGS",
"panel_id": 18,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp1a2 has been classified as Green List (High Evidence).",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2020-01-04T13:47:05.538158+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRPM3 was added\ngene: TRPM3 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature\nMode of inheritance for gene: TRPM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRPM3 were set to 31278393\nPhenotypes for gene: TRPM3 were set to Intellectual disability; epilepsy\nReview for gene: TRPM3 was set to GREEN\nAdded comment: 8 unrelated individuals with de novo variants in this gene. Recurrent variant p.(Val837Met) identified in 7/8. \nSources: Literature",
"entity_name": "TRPM3",
"entity_type": "gene"
},
{
"created": "2020-01-04T13:45:15.543506+11:00",
"panel_name": "Polymicrogyria and schizencephaly_AustralianGenomics_VCGS",
"panel_id": 18,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP1A2 were changed from to hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2020-01-04T13:44:41.626977+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRPM3 as ready",
"entity_name": "TRPM3",
"entity_type": "gene"
},
{
"created": "2020-01-04T13:44:41.614563+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trpm3 has been classified as Green List (High Evidence).",
"entity_name": "TRPM3",
"entity_type": "gene"
},
{
"created": "2020-01-04T13:44:34.083641+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRPM3 as Green List (high evidence)",
"entity_name": "TRPM3",
"entity_type": "gene"
},
{
"created": "2020-01-04T13:44:34.071131+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trpm3 has been classified as Green List (High Evidence).",
"entity_name": "TRPM3",
"entity_type": "gene"
},
{
"created": "2020-01-04T13:44:21.739571+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRPM3 was added\ngene: TRPM3 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: TRPM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRPM3 were set to 31278393\nPhenotypes for gene: TRPM3 were set to Intellectual disability; epilepsy\nReview for gene: TRPM3 was set to GREEN\nAdded comment: 8 unrelated individuals with de novo variants in this gene. Recurrent variant p.(Val837Met) identified in 7/8. \nSources: Literature",
"entity_name": "TRPM3",
"entity_type": "gene"
},
{
"created": "2020-01-04T12:56:55.896588+11:00",
"panel_name": "Polymicrogyria and schizencephaly_AustralianGenomics_VCGS",
"panel_id": 18,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP1A2 were set to ",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2020-01-04T12:55:38.016376+11:00",
"panel_name": "Polymicrogyria and schizencephaly_AustralianGenomics_VCGS",
"panel_id": 18,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP1A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2020-01-04T12:55:02.197796+11:00",
"panel_name": "Polymicrogyria and schizencephaly_AustralianGenomics_VCGS",
"panel_id": 18,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31608932; Phenotypes: hydrops fetalis, microcephaly, arthrogryposis, extensive cortical malformations; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2020-01-04T12:52:09.973856+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TANC2 as ready",
"entity_name": "TANC2",
"entity_type": "gene"
},
{
"created": "2020-01-04T12:52:09.962892+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tanc2 has been classified as Green List (High Evidence).",
"entity_name": "TANC2",
"entity_type": "gene"
},
{
"created": "2020-01-04T12:52:04.311894+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TANC2 were changed from no OMIM number yet to no OMIM number yet; Intellectual disability; autism; epilepsy; dysmorphism",
"entity_name": "TANC2",
"entity_type": "gene"
},
{
"created": "2020-01-04T12:49:55.645345+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN8A as ready",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2020-01-04T12:49:55.632298+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn8a has been classified as Green List (High Evidence).",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2020-01-04T12:49:52.539027+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCN8A were changed from to Epileptic encephalopathy, early infantile, 13, MIM# 614558; dominant and recessive",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2020-01-04T12:49:23.006711+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCN8A were set to ",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2020-01-04T12:48:52.323954+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: SCN8A was changed from to Other",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2020-01-04T12:48:19.686553+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCN8A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2020-01-04T12:47:41.822753+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SCN8A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31625145; Phenotypes: Epileptic encephalopathy, early infantile, 13, MIM# 614558, dominant and recessive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2020-01-04T12:41:52.562938+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NUS1 as ready",
"entity_name": "NUS1",
"entity_type": "gene"
},
{
"created": "2020-01-04T12:41:52.550659+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nus1 has been classified as Green List (High Evidence).",
"entity_name": "NUS1",
"entity_type": "gene"
},
{
"created": "2020-01-04T12:41:46.842332+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NUS1 as Green List (high evidence)",
"entity_name": "NUS1",
"entity_type": "gene"
},
{
"created": "2020-01-04T12:41:46.831567+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nus1 has been classified as Green List (High Evidence).",
"entity_name": "NUS1",
"entity_type": "gene"
},
{
"created": "2020-01-04T12:41:33.763330+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NUS1 was added\ngene: NUS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: NUS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NUS1 were set to 31656175; 29100083\nPhenotypes for gene: NUS1 were set to Epilepsy; intellectual disability\nReview for gene: NUS1 was set to GREEN\nAdded comment: Five individuals reported with de novo variants in this gene and epilepsy/ID phenotype (4 truncating variants and a small deletion). \nSources: Literature",
"entity_name": "NUS1",
"entity_type": "gene"
},
{
"created": "2020-01-04T12:39:56.646768+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NUS1 as ready",
"entity_name": "NUS1",
"entity_type": "gene"
},
{
"created": "2020-01-04T12:39:56.634162+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nus1 has been classified as Green List (High Evidence).",
"entity_name": "NUS1",
"entity_type": "gene"
},
{
"created": "2020-01-04T12:39:44.031449+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NUS1 were changed from to Epilepsy; intellectual disability",
"entity_name": "NUS1",
"entity_type": "gene"
},
{
"created": "2020-01-04T12:39:26.644605+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NUS1 were set to ",
"entity_name": "NUS1",
"entity_type": "gene"
},
{
"created": "2020-01-04T12:39:09.944421+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NUS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NUS1",
"entity_type": "gene"
},
{
"created": "2020-01-04T12:38:02.904690+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NUS1 as ready",
"entity_name": "NUS1",
"entity_type": "gene"
},
{
"created": "2020-01-04T12:38:02.893202+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nus1 has been classified as Green List (High Evidence).",
"entity_name": "NUS1",
"entity_type": "gene"
},
{
"created": "2020-01-04T12:37:58.865442+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NUS1 as Green List (high evidence)",
"entity_name": "NUS1",
"entity_type": "gene"
},
{
"created": "2020-01-04T12:37:58.854105+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nus1 has been classified as Green List (High Evidence).",
"entity_name": "NUS1",
"entity_type": "gene"
},
{
"created": "2020-01-04T12:36:48.739855+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NUS1 was added\ngene: NUS1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature\nMode of inheritance for gene: NUS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NUS1 were set to 31656175; 29100083\nPhenotypes for gene: NUS1 were set to Epilepsy; intellectual disability\nReview for gene: NUS1 was set to GREEN\nAdded comment: Five individuals reported with de novo variants in this gene and epilepsy/ID phenotype (4 truncating variants and a small deletion). \nSources: Literature",
"entity_name": "NUS1",
"entity_type": "gene"
},
{
"created": "2020-01-04T12:07:26.958358+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UGP2 as ready",
"entity_name": "UGP2",
"entity_type": "gene"
},
{
"created": "2020-01-04T12:07:26.947135+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ugp2 has been classified as Green List (High Evidence).",
"entity_name": "UGP2",
"entity_type": "gene"
},
{
"created": "2020-01-04T12:05:53.627191+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UGP2 as Green List (high evidence)",
"entity_name": "UGP2",
"entity_type": "gene"
},
{
"created": "2020-01-04T12:05:53.616065+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ugp2 has been classified as Green List (High Evidence).",
"entity_name": "UGP2",
"entity_type": "gene"
},
{
"created": "2020-01-04T12:05:17.789905+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UGP2 was added\ngene: UGP2 was added to Microcephaly_VCGS. Sources: Literature\nMode of inheritance for gene: UGP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UGP2 were set to 31820119\nPhenotypes for gene: UGP2 were set to Epileptic encephalopathy; intellectual disability; microcephaly\nAdded comment: 22 individuals from 15 families reported with the same homozygous missense variant in this gene, chr2:64083454A > G, which causes a disruption of the start codon in the shorter isoform, which is expressed in brain. \nSources: Literature",
"entity_name": "UGP2",
"entity_type": "gene"
},
{
"created": "2020-01-04T12:05:00.447156+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1477",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UGP2 as ready",
"entity_name": "UGP2",
"entity_type": "gene"
},
{
"created": "2020-01-04T12:05:00.407435+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1477",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ugp2 has been classified as Green List (High Evidence).",
"entity_name": "UGP2",
"entity_type": "gene"
},
{
"created": "2020-01-04T12:04:27.130640+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1477",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UGP2 as Green List (high evidence)",
"entity_name": "UGP2",
"entity_type": "gene"
},
{
"created": "2020-01-04T12:04:27.117168+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1477",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ugp2 has been classified as Green List (High Evidence).",
"entity_name": "UGP2",
"entity_type": "gene"
},
{
"created": "2020-01-04T12:03:17.383282+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UGP2 as ready",
"entity_name": "UGP2",
"entity_type": "gene"
},
{
"created": "2020-01-04T12:03:17.372853+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ugp2 has been classified as Green List (High Evidence).",
"entity_name": "UGP2",
"entity_type": "gene"
},
{
"created": "2020-01-04T12:03:14.699754+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UGP2 was added\ngene: UGP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: UGP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UGP2 were set to 31820119\nPhenotypes for gene: UGP2 were set to Epileptic encephalopathy; intellectual disability; microcephaly\nReview for gene: UGP2 was set to GREEN\nAdded comment: 22 individuals from 15 families reported with the same homozygous missense variant in this gene, chr2:64083454A > G, which causes a disruption of the start codon in the shorter isoform, which is expressed in brain. \nSources: Literature",
"entity_name": "UGP2",
"entity_type": "gene"
},
{
"created": "2020-01-04T12:02:01.713714+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UGP2 as Green List (high evidence)",
"entity_name": "UGP2",
"entity_type": "gene"
},
{
"created": "2020-01-04T12:02:01.699007+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ugp2 has been classified as Green List (High Evidence).",
"entity_name": "UGP2",
"entity_type": "gene"
},
{
"created": "2020-01-04T12:01:22.516811+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UGP2 as ready",
"entity_name": "UGP2",
"entity_type": "gene"
},
{
"created": "2020-01-04T12:01:22.504708+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ugp2 has been classified as Green List (High Evidence).",
"entity_name": "UGP2",
"entity_type": "gene"
},
{
"created": "2020-01-04T12:01:18.813078+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UGP2 was added\ngene: UGP2 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: UGP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UGP2 were set to 31820119\nPhenotypes for gene: UGP2 were set to Epileptic encephalopathy; intellectual disability; microcephaly\nReview for gene: UGP2 was set to GREEN\nAdded comment: 22 individuals from 15 families reported with the same homozygous missense variant in this gene, chr2:64083454A > G, which causes a disruption of the start codon in the shorter isoform, which is expressed in brain. \nSources: Literature",
"entity_name": "UGP2",
"entity_type": "gene"
},
{
"created": "2020-01-04T12:00:59.152211+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UGP2 as Green List (high evidence)",
"entity_name": "UGP2",
"entity_type": "gene"
},
{
"created": "2020-01-04T12:00:59.141227+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ugp2 has been classified as Green List (High Evidence).",
"entity_name": "UGP2",
"entity_type": "gene"
},
{
"created": "2020-01-04T11:57:45.914490+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UGP2 was added\ngene: UGP2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature\nMode of inheritance for gene: UGP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UGP2 were set to 31820119\nPhenotypes for gene: UGP2 were set to Epileptic encephalopathy; intellectual disability; microcephaly\nReview for gene: UGP2 was set to GREEN\nAdded comment: 22 individuals from 15 families reported with the same homozygous missense variant in this gene, chr2:64083454A > G, which causes a disruption of the start codon in the shorter isoform, which is expressed in brain. \nSources: Literature",
"entity_name": "UGP2",
"entity_type": "gene"
},
{
"created": "2020-01-04T11:57:26.819332+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STXBP1 as ready",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2020-01-04T11:57:26.803804+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stxbp1 has been classified as Green List (High Evidence).",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2020-01-04T11:55:08.327880+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STXBP1 were set to 31855252",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2020-01-04T11:54:14.596771+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STXBP1 were changed from to Epileptic encephalopathy, early infantile, 4, MIM#612164",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2020-01-04T11:53:20.925630+11:00",
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"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STXBP1 were set to ",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2020-01-04T11:50:54.621663+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: STXBP1 was changed from Other to Other",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2020-01-04T11:50:24.828367+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: STXBP1 was changed from to Other",
"entity_name": "STXBP1",
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}
]
}