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{
"count": 220828,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1974",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1972",
"results": [
{
"created": "2020-01-21T16:49:42.794602+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDH2 as Green List (high evidence)",
"entity_name": "CDH2",
"entity_type": "gene"
},
{
"created": "2020-01-21T16:49:42.783009+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdh2 has been classified as Green List (High Evidence).",
"entity_name": "CDH2",
"entity_type": "gene"
},
{
"created": "2020-01-21T16:48:26.842847+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1637",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDH2 was added\ngene: CDH2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CDH2 were set to 31585109\nPhenotypes for gene: CDH2 were set to Intellectual disability; corpus callosum abnormalities; congenital abnormalities\nReview for gene: CDH2 was set to GREEN\nAdded comment: Nine unrelated individuals reported with de novo variants in this gene. \nSources: Literature",
"entity_name": "CDH2",
"entity_type": "gene"
},
{
"created": "2020-01-21T16:37:07.982764+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.875",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NTNG2 were changed from Intellectual disability; autism; dysmorphic features to Intellectual disability; autism; dysmorphic features; Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM#\t618718",
"entity_name": "NTNG2",
"entity_type": "gene"
},
{
"created": "2020-01-21T16:36:50.208838+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NTNG2 were changed from Intellectual disability; autism; dysmorphic features to Intellectual disability; autism; dysmorphic features; Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM#\t618718",
"entity_name": "NTNG2",
"entity_type": "gene"
},
{
"created": "2020-01-21T14:34:07.306925+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1635",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NTNG2 as ready",
"entity_name": "NTNG2",
"entity_type": "gene"
},
{
"created": "2020-01-21T14:34:07.294245+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1635",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ntng2 has been classified as Green List (High Evidence).",
"entity_name": "NTNG2",
"entity_type": "gene"
},
{
"created": "2020-01-21T14:33:49.738871+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1635",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NTNG2 as Green List (high evidence)",
"entity_name": "NTNG2",
"entity_type": "gene"
},
{
"created": "2020-01-21T14:33:49.726284+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1635",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ntng2 has been classified as Green List (High Evidence).",
"entity_name": "NTNG2",
"entity_type": "gene"
},
{
"created": "2020-01-21T14:33:48.619946+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.874",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NTNG2 as ready",
"entity_name": "NTNG2",
"entity_type": "gene"
},
{
"created": "2020-01-21T14:33:48.607184+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.874",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ntng2 has been classified as Green List (High Evidence).",
"entity_name": "NTNG2",
"entity_type": "gene"
},
{
"created": "2020-01-21T14:33:36.389271+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.874",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NTNG2 were set to ",
"entity_name": "NTNG2",
"entity_type": "gene"
},
{
"created": "2020-01-21T14:32:51.860765+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.873",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NTNG2 were changed from to Intellectual disability; autism; dysmorphic features",
"entity_name": "NTNG2",
"entity_type": "gene"
},
{
"created": "2020-01-21T14:32:45.362976+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NTNG2 was added\ngene: NTNG2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: NTNG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NTNG2 were set to 31668703\nPhenotypes for gene: NTNG2 were set to Intellectual disability; autism; dysmorphic features\nReview for gene: NTNG2 was set to GREEN\nAdded comment: 16 individuals from 7 unrelated families. \nSources: Literature",
"entity_name": "NTNG2",
"entity_type": "gene"
},
{
"created": "2020-01-21T14:32:40.929023+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.872",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NTNG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NTNG2",
"entity_type": "gene"
},
{
"created": "2020-01-21T14:32:01.442088+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NTNG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31668703; Phenotypes: Intellectual disability, autism, dysmorphic features; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NTNG2",
"entity_type": "gene"
},
{
"created": "2020-01-21T14:28:04.549240+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPL13 as ready",
"entity_name": "RPL13",
"entity_type": "gene"
},
{
"created": "2020-01-21T14:28:04.537057+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl13 has been classified as Green List (High Evidence).",
"entity_name": "RPL13",
"entity_type": "gene"
},
{
"created": "2020-01-21T14:27:51.294646+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPL13 as Green List (high evidence)",
"entity_name": "RPL13",
"entity_type": "gene"
},
{
"created": "2020-01-21T14:27:51.283545+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl13 has been classified as Green List (High Evidence).",
"entity_name": "RPL13",
"entity_type": "gene"
},
{
"created": "2020-01-21T14:27:32.622248+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL13 was added\ngene: RPL13 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RPL13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPL13 were set to 31630789\nPhenotypes for gene: RPL13 were set to Spondyloepimetaphyseal Dysplasia with Severe Short Stature\nReview for gene: RPL13 was set to GREEN\nAdded comment: Four unrelated individuals reported with de novo variants. \nSources: Literature",
"entity_name": "RPL13",
"entity_type": "gene"
},
{
"created": "2020-01-21T14:25:53.785210+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPL13 as ready",
"entity_name": "RPL13",
"entity_type": "gene"
},
{
"created": "2020-01-21T14:25:53.773409+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl13 has been classified as Green List (High Evidence).",
"entity_name": "RPL13",
"entity_type": "gene"
},
{
"created": "2020-01-21T14:25:44.072295+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RPL13: Rating: GREEN; Mode of pathogenicity: None; Publications: 31630789; Phenotypes: Spondyloepimetaphyseal Dysplasia with Severe Short Stature; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPL13",
"entity_type": "gene"
},
{
"created": "2020-01-21T14:19:47.126513+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.869",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXJ1 as ready",
"entity_name": "FOXJ1",
"entity_type": "gene"
},
{
"created": "2020-01-21T14:19:47.114641+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.869",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxj1 has been classified as Green List (High Evidence).",
"entity_name": "FOXJ1",
"entity_type": "gene"
},
{
"created": "2020-01-21T14:19:33.540355+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.869",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXJ1 were changed from to hydrocephalus; chronic destructive airway disease; randomization of left/right body asymmetry",
"entity_name": "FOXJ1",
"entity_type": "gene"
},
{
"created": "2020-01-21T14:19:32.896767+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXJ1 as ready",
"entity_name": "FOXJ1",
"entity_type": "gene"
},
{
"created": "2020-01-21T14:19:32.883447+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxj1 has been classified as Green List (High Evidence).",
"entity_name": "FOXJ1",
"entity_type": "gene"
},
{
"created": "2020-01-21T14:19:14.496542+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.868",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FOXJ1 were set to ",
"entity_name": "FOXJ1",
"entity_type": "gene"
},
{
"created": "2020-01-21T14:18:55.698374+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FOXJ1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXJ1",
"entity_type": "gene"
},
{
"created": "2020-01-21T14:18:38.410686+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FOXJ1 as Green List (high evidence)",
"entity_name": "FOXJ1",
"entity_type": "gene"
},
{
"created": "2020-01-21T14:18:38.399204+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxj1 has been classified as Green List (High Evidence).",
"entity_name": "FOXJ1",
"entity_type": "gene"
},
{
"created": "2020-01-21T14:18:34.369784+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FOXJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31630787; Phenotypes: hydrocephalus, chronic destructive airway disease, randomization of left/right body asymmetry; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXJ1",
"entity_type": "gene"
},
{
"created": "2020-01-21T14:17:24.168141+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FOXJ1 was added\ngene: FOXJ1 was added to Ciliary Dyskinesia. Sources: Literature\nMode of inheritance for gene: FOXJ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FOXJ1 were set to 31630787\nPhenotypes for gene: FOXJ1 were set to hydrocephalus; chronic destructive airway disease; randomization of left/right body asymmetry\nReview for gene: FOXJ1 was set to GREEN\nAdded comment: Six unrelated individuals with de novo variants in this gene. \nSources: Literature",
"entity_name": "FOXJ1",
"entity_type": "gene"
},
{
"created": "2020-01-21T14:12:57.133170+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBGCP2 as ready",
"entity_name": "TUBGCP2",
"entity_type": "gene"
},
{
"created": "2020-01-21T14:12:57.121556+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubgcp2 has been classified as Green List (High Evidence).",
"entity_name": "TUBGCP2",
"entity_type": "gene"
},
{
"created": "2020-01-21T14:12:50.759536+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TUBGCP2 as Green List (high evidence)",
"entity_name": "TUBGCP2",
"entity_type": "gene"
},
{
"created": "2020-01-21T14:12:50.747928+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubgcp2 has been classified as Green List (High Evidence).",
"entity_name": "TUBGCP2",
"entity_type": "gene"
},
{
"created": "2020-01-21T14:12:14.453652+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TUBGCP2 was added\ngene: TUBGCP2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: TUBGCP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TUBGCP2 were set to 31630790\nPhenotypes for gene: TUBGCP2 were set to Lissencephaly; pachygyria; subcortical band heterotopia; microcephaly; intellectual disability\nReview for gene: TUBGCP2 was set to GREEN\nAdded comment: Four unrelated families reported. \nSources: Literature",
"entity_name": "TUBGCP2",
"entity_type": "gene"
},
{
"created": "2020-01-21T14:11:35.444452+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBGCP2 as ready",
"entity_name": "TUBGCP2",
"entity_type": "gene"
},
{
"created": "2020-01-21T14:11:35.433054+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubgcp2 has been classified as Green List (High Evidence).",
"entity_name": "TUBGCP2",
"entity_type": "gene"
},
{
"created": "2020-01-21T14:11:21.898519+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TUBGCP2 as Green List (high evidence)",
"entity_name": "TUBGCP2",
"entity_type": "gene"
},
{
"created": "2020-01-21T14:11:21.887321+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubgcp2 has been classified as Green List (High Evidence).",
"entity_name": "TUBGCP2",
"entity_type": "gene"
},
{
"created": "2020-01-21T14:10:11.169172+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TUBGCP2 was added\ngene: TUBGCP2 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: TUBGCP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TUBGCP2 were set to 31630790\nPhenotypes for gene: TUBGCP2 were set to Lissencephaly; pachygyria; subcortical band heterotopia; microcephaly; intellectual disability\nReview for gene: TUBGCP2 was set to GREEN\nAdded comment: Four unrelated families reported. \nSources: Literature",
"entity_name": "TUBGCP2",
"entity_type": "gene"
},
{
"created": "2020-01-21T14:09:46.756294+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBGCP2 as ready",
"entity_name": "TUBGCP2",
"entity_type": "gene"
},
{
"created": "2020-01-21T14:09:46.742696+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubgcp2 has been classified as Green List (High Evidence).",
"entity_name": "TUBGCP2",
"entity_type": "gene"
},
{
"created": "2020-01-21T14:08:17.303228+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TUBGCP2 as Green List (high evidence)",
"entity_name": "TUBGCP2",
"entity_type": "gene"
},
{
"created": "2020-01-21T14:08:17.291067+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubgcp2 has been classified as Green List (High Evidence).",
"entity_name": "TUBGCP2",
"entity_type": "gene"
},
{
"created": "2020-01-21T14:07:57.414930+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.865",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TUBGCP2 was added\ngene: TUBGCP2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TUBGCP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TUBGCP2 were set to 31630790\nPhenotypes for gene: TUBGCP2 were set to Lissencephaly; pachygyria; subcortical band heterotopia; microcephaly; intellectual disability\nReview for gene: TUBGCP2 was set to GREEN\nAdded comment: Four unrelated families reported. \nSources: Literature",
"entity_name": "TUBGCP2",
"entity_type": "gene"
},
{
"created": "2020-01-21T14:07:18.288476+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TUBGCP2 as Green List (high evidence)",
"entity_name": "TUBGCP2",
"entity_type": "gene"
},
{
"created": "2020-01-21T14:07:18.276308+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubgcp2 has been classified as Green List (High Evidence).",
"entity_name": "TUBGCP2",
"entity_type": "gene"
},
{
"created": "2020-01-21T14:05:51.687050+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TUBGCP2 was added\ngene: TUBGCP2 was added to Lissencephaly and Band Heterotopia. Sources: Literature\nMode of inheritance for gene: TUBGCP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TUBGCP2 were set to 31630790\nPhenotypes for gene: TUBGCP2 were set to Lissencephaly; pachygyria; subcortical band heterotopia; microcephaly; intellectual disability\nReview for gene: TUBGCP2 was set to GREEN\nAdded comment: Four unrelated families reported. \nSources: Literature",
"entity_name": "TUBGCP2",
"entity_type": "gene"
},
{
"created": "2020-01-21T13:58:52.187166+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RRAS2 as ready",
"entity_name": "RRAS2",
"entity_type": "gene"
},
{
"created": "2020-01-21T13:58:52.171259+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rras2 has been classified as Green List (High Evidence).",
"entity_name": "RRAS2",
"entity_type": "gene"
},
{
"created": "2020-01-21T13:58:41.437266+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RRAS2 were changed from to Noonan syndrome 12, OMIM #618624",
"entity_name": "RRAS2",
"entity_type": "gene"
},
{
"created": "2020-01-21T13:58:04.561954+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.863",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RRAS2 were set to ",
"entity_name": "RRAS2",
"entity_type": "gene"
},
{
"created": "2020-01-21T13:57:47.396587+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RRAS2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RRAS2",
"entity_type": "gene"
},
{
"created": "2020-01-21T13:57:24.417305+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RRAS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31130282; Phenotypes: Noonan syndrome 12, OMIM #618624; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RRAS2",
"entity_type": "gene"
},
{
"created": "2020-01-21T13:55:41.990075+11:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.39",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SOS1 was added\ngene: SOS1 was added to Inherited Vascular Malformations. Sources: Expert list\nMode of inheritance for gene: SOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SOS1 were set to 29907801\nPhenotypes for gene: SOS1 were set to Noonan syndrome 4 610733\nReview for gene: SOS1 was set to RED\nAdded comment: Cystic hygromas are not a prominent feature of SOS1 associated Noonan syndrome \nSources: Expert list",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2020-01-21T13:55:36.422774+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TP73 as ready",
"entity_name": "TP73",
"entity_type": "gene"
},
{
"created": "2020-01-21T13:55:36.411141+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tp73 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TP73",
"entity_type": "gene"
},
{
"created": "2020-01-21T13:55:14.053382+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TP73 as Amber List (moderate evidence)",
"entity_name": "TP73",
"entity_type": "gene"
},
{
"created": "2020-01-21T13:55:14.041308+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tp73 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TP73",
"entity_type": "gene"
},
{
"created": "2020-01-21T13:54:09.232443+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TP73 was added\ngene: TP73 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: TP73 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TP73 were set to 31130284\nPhenotypes for gene: TP73 were set to Intellectual disability; lissencephaly\nReview for gene: TP73 was set to AMBER\nAdded comment: Two unrelated families, no functional data. \nSources: Literature",
"entity_name": "TP73",
"entity_type": "gene"
},
{
"created": "2020-01-21T13:50:47.994382+11:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PTPN14 as Green List (high evidence)",
"entity_name": "PTPN14",
"entity_type": "gene"
},
{
"created": "2020-01-21T13:50:47.982315+11:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ptpn14 has been classified as Green List (High Evidence).",
"entity_name": "PTPN14",
"entity_type": "gene"
},
{
"created": "2020-01-21T13:50:35.733014+11:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.37",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PTPN14 was added\ngene: PTPN14 was added to Inherited Vascular Malformations. Sources: Expert list\nMode of inheritance for gene: PTPN14 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PTPN14 were set to Choanal atresia and lymphedema 613611\nReview for gene: PTPN14 was set to GREEN\nAdded comment: Lymphedema is a prominent feature of the condition. \nSources: Expert list",
"entity_name": "PTPN14",
"entity_type": "gene"
},
{
"created": "2020-01-21T13:49:31.828902+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMG8 as ready",
"entity_name": "SMG8",
"entity_type": "gene"
},
{
"created": "2020-01-21T13:49:31.817458+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smg8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SMG8",
"entity_type": "gene"
},
{
"created": "2020-01-21T13:49:21.444385+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMG8 as Amber List (moderate evidence)",
"entity_name": "SMG8",
"entity_type": "gene"
},
{
"created": "2020-01-21T13:49:21.432777+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smg8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SMG8",
"entity_type": "gene"
},
{
"created": "2020-01-21T13:48:42.889084+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMG8 was added\ngene: SMG8 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SMG8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SMG8 were set to 31130284\nPhenotypes for gene: SMG8 were set to Intellectual disability\nReview for gene: SMG8 was set to AMBER\nAdded comment: Two unrelated families, no functional data. \nSources: Literature",
"entity_name": "SMG8",
"entity_type": "gene"
},
{
"created": "2020-01-21T13:46:27.582942+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IQSEC3 as ready",
"entity_name": "IQSEC3",
"entity_type": "gene"
},
{
"created": "2020-01-21T13:46:27.571251+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: iqsec3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IQSEC3",
"entity_type": "gene"
},
{
"created": "2020-01-21T13:46:20.316022+11:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.36",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PTPN11 as Red List (low evidence)",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2020-01-21T13:46:20.310540+11:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.36",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Paediatric gene that isn't suitable for testing of vascular malformations in an adult hospital",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2020-01-21T13:46:20.281850+11:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.36",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ptpn11 has been classified as Red List (Low Evidence).",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2020-01-21T13:46:12.771550+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IQSEC3 as Amber List (moderate evidence)",
"entity_name": "IQSEC3",
"entity_type": "gene"
},
{
"created": "2020-01-21T13:46:12.759914+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: iqsec3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IQSEC3",
"entity_type": "gene"
},
{
"created": "2020-01-21T13:45:32.949300+11:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PTPN11 was added\ngene: PTPN11 was added to Inherited Vascular Malformations. Sources: Expert list\nMode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PTPN11 were set to 27193571; 24939587; 29907801\nPhenotypes for gene: PTPN11 were set to LEOPARD syndrome 1 151100; Noonan syndrome 1 163950; cystic hygroma\nReview for gene: PTPN11 was set to GREEN\nAdded comment: A pathogenic de novo variant was identied in a case diagnosed with megalencephaly-capillary malformation (MCAP) syndrome. However, the cases also had a somatic mosaic variant in PIK3CA which is the usual cause of MCAP. One of the prominent features of Noonan syndrome caused by this gene is cystic hygromas. \nSources: Expert list",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2020-01-21T13:45:04.856889+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IQSEC3 was added\ngene: IQSEC3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: IQSEC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IQSEC3 were set to 31130284\nPhenotypes for gene: IQSEC3 were set to Intellectual disability\nReview for gene: IQSEC3 was set to AMBER\nAdded comment: Two unrelated families, no functional data. \nSources: Literature",
"entity_name": "IQSEC3",
"entity_type": "gene"
},
{
"created": "2020-01-21T13:40:12.413322+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ICE1 as ready",
"entity_name": "ICE1",
"entity_type": "gene"
},
{
"created": "2020-01-21T13:40:12.399836+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ice1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ICE1",
"entity_type": "gene"
},
{
"created": "2020-01-21T13:39:58.839032+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ICE1 as Amber List (moderate evidence)",
"entity_name": "ICE1",
"entity_type": "gene"
},
{
"created": "2020-01-21T13:39:58.826956+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ice1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ICE1",
"entity_type": "gene"
},
{
"created": "2020-01-21T13:38:50.147355+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1624",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ICE1 was added\ngene: ICE1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ICE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ICE1 were set to 31130284\nPhenotypes for gene: ICE1 were set to Intellectual disability, cerebral atrophy\nReview for gene: ICE1 was set to AMBER\nAdded comment: Two unrelated families reported, no functional data; part of large consanguineous cohort, mixed phenotypes. \nSources: Literature",
"entity_name": "ICE1",
"entity_type": "gene"
},
{
"created": "2020-01-21T13:23:10.611226+11:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PIK3R2 was added\ngene: PIK3R2 was added to Inherited Vascular Malformations. Sources: Expert list\nMode of inheritance for gene: PIK3R2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PIK3R2 were set to 22729224; 28502725\nPhenotypes for gene: PIK3R2 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387\nReview for gene: PIK3R2 was set to RED\nAdded comment: This condition (MPPH) lacks vascular malformations as a feature of the phenotype. Two variants were identified in the blood of two postnatal cases suspected of having mosaic overgrowth syndromes, but clinical indication for testing was not provided. \nSources: Expert list",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2020-01-21T12:54:03.953970+11:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.33",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag somatic tag was added to gene: PIK3R1.",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2020-01-21T12:53:56.606816+11:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.33",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PIK3R1 was added\ngene: PIK3R1 was added to Inherited Vascular Malformations. Sources: Expert list\nMode of inheritance for gene: PIK3R1 was set to Other\nPublications for gene: PIK3R1 were set to 29174369\nPhenotypes for gene: PIK3R1 were set to capillary and lymphatic malformation\nReview for gene: PIK3R1 was set to RED\nAdded comment: A patient carrying a somatic PIK3R1 (p.K567E) variant demonstrated capillary malformation and lymphatic malformation, with mild, proportional overgrowth of one extremity. No other reports with vascular malformations/anomalies. Germline variants cause various conditions where vascular malformations are not a prominent feature. \nSources: Expert list",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2020-01-21T12:46:02.250545+11:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.32",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PIK3CA as Green List (high evidence)",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2020-01-21T12:46:02.244834+11:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.32",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Somatic activating mutaitons are the main cause of vascular malformations, but four individuals with germline variants have been reported.",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2020-01-21T12:46:02.210177+11:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.32",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pik3ca has been classified as Green List (High Evidence).",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2020-01-21T12:44:50.357225+11:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.31",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag somatic tag was added to gene: PIK3CA.",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2020-01-21T12:44:37.763401+11:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.31",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 22729224, 23246288; Phenotypes: Megalencephaly-capillary malformation (MCAP) syndrome, Cowden syndrome 5 615108; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2020-01-21T12:04:08.299470+11:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.31",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NRAS as Red List (low evidence)",
"entity_name": "NRAS",
"entity_type": "gene"
},
{
"created": "2020-01-21T12:04:08.293947+11:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.31",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Somatic activating mutations are the cause of vascular malformations, thus this gene is not suitable for a germline testing panel.",
"entity_name": "NRAS",
"entity_type": "gene"
},
{
"created": "2020-01-21T12:04:08.264334+11:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.31",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nras has been classified as Red List (Low Evidence).",
"entity_name": "NRAS",
"entity_type": "gene"
},
{
"created": "2020-01-21T12:03:27.728056+11:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag somatic tag was added to gene: NRAS.",
"entity_name": "NRAS",
"entity_type": "gene"
},
{
"created": "2020-01-21T12:03:17.352731+11:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NRAS was added\ngene: NRAS was added to Inherited Vascular Malformations. Sources: Expert list\nMode of inheritance for gene: NRAS was set to Other\nPublications for gene: NRAS were set to 30542204; 29461977\nPhenotypes for gene: NRAS were set to Kaposiform lymphangiomatosis; Sporadic vascular malformation\nMode of pathogenicity for gene: NRAS 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: NRAS was set to GREEN\nAdded comment: Somatic activating mutations in this gene cause vascular malformations. Germline variants cause the RASopathy, Noonan syndrome. \nSources: Expert list",
"entity_name": "NRAS",
"entity_type": "gene"
}
]
}