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{
"count": 220324,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1318",
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"results": [
{
"created": "2021-05-27T10:14:34.154709+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7682",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PARP6 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PARP6",
"entity_type": "gene"
},
{
"created": "2021-05-27T10:14:16.211443+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PARP6: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PARP6",
"entity_type": "gene"
},
{
"created": "2021-05-27T10:05:39.572326+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PARP6 as ready",
"entity_name": "PARP6",
"entity_type": "gene"
},
{
"created": "2021-05-27T10:05:39.552003+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: parp6 has been classified as Green List (High Evidence).",
"entity_name": "PARP6",
"entity_type": "gene"
},
{
"created": "2021-05-27T10:05:30.477385+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PARP6 as Green List (high evidence)",
"entity_name": "PARP6",
"entity_type": "gene"
},
{
"created": "2021-05-27T10:05:30.462839+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: parp6 has been classified as Green List (High Evidence).",
"entity_name": "PARP6",
"entity_type": "gene"
},
{
"created": "2021-05-27T10:05:11.637503+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7680",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PARP6 was added\ngene: PARP6 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PARP6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PARP6 were set to Cells 2021, 10(6), 1289; https://doi.org/10.3390/cells10061289\nPhenotypes for gene: PARP6 were set to Intellectual disability; Epilepsy; Microcephaly\nReview for gene: PARP6 was set to GREEN\nAdded comment: Four unrelated individuals reported with de novo variants in this gene and a neurodevelopmental phenotype. Supportive functional data. One pair of siblings with a homozygous missense: limited evidence for bi-allelic variants causing disease. \nSources: Literature",
"entity_name": "PARP6",
"entity_type": "gene"
},
{
"created": "2021-05-27T10:04:52.581605+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PARP6 as ready",
"entity_name": "PARP6",
"entity_type": "gene"
},
{
"created": "2021-05-27T10:04:52.571800+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: parp6 has been classified as Green List (High Evidence).",
"entity_name": "PARP6",
"entity_type": "gene"
},
{
"created": "2021-05-27T10:04:26.668360+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PARP6 as Green List (high evidence)",
"entity_name": "PARP6",
"entity_type": "gene"
},
{
"created": "2021-05-27T10:04:26.658131+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: parp6 has been classified as Green List (High Evidence).",
"entity_name": "PARP6",
"entity_type": "gene"
},
{
"created": "2021-05-27T10:00:26.799196+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PARP6 as Green List (high evidence)",
"entity_name": "PARP6",
"entity_type": "gene"
},
{
"created": "2021-05-27T10:00:26.788297+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: parp6 has been classified as Green List (High Evidence).",
"entity_name": "PARP6",
"entity_type": "gene"
},
{
"created": "2021-05-27T09:59:41.855075+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PARP6 was added\ngene: PARP6 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: PARP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PARP6 were set to Cells 2021, 10(6), 1289; https://doi.org/10.3390/cells10061289\nPhenotypes for gene: PARP6 were set to Intellectual disability; Epilepsy; Microcephaly\nReview for gene: PARP6 was set to GREEN\nAdded comment: Four unrelated individuals reported with de novo variants in this gene and a neurodevelopmental phenotype. Supportive functional data. One pair of siblings with a homozygous missense: limited evidence for bi-allelic variants causing disease. \nSources: Literature",
"entity_name": "PARP6",
"entity_type": "gene"
},
{
"created": "2021-05-27T09:58:52.240670+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1087",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PARP6 as ready",
"entity_name": "PARP6",
"entity_type": "gene"
},
{
"created": "2021-05-27T09:58:52.208659+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1087",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: parp6 has been classified as Green List (High Evidence).",
"entity_name": "PARP6",
"entity_type": "gene"
},
{
"created": "2021-05-27T09:58:46.369207+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1087",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PARP6 as Green List (high evidence)",
"entity_name": "PARP6",
"entity_type": "gene"
},
{
"created": "2021-05-27T09:58:46.360700+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1087",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: parp6 has been classified as Green List (High Evidence).",
"entity_name": "PARP6",
"entity_type": "gene"
},
{
"created": "2021-05-27T09:58:12.347433+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1086",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PARP6 was added\ngene: PARP6 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: PARP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PARP6 were set to Cells 2021, 10(6), 1289; https://doi.org/10.3390/cells10061289\nPhenotypes for gene: PARP6 were set to Intellectual disability; Epilepsy; Microcephaly\nReview for gene: PARP6 was set to GREEN\nAdded comment: Four unrelated individuals reported with de novo variants in this gene and a neurodevelopmental phenotype. Supportive functional data. One pair of siblings with a homozygous missense: limited evidence for bi-allelic variants causing disease. \nSources: Literature",
"entity_name": "PARP6",
"entity_type": "gene"
},
{
"created": "2021-05-27T09:57:38.742951+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PARP6 as ready",
"entity_name": "PARP6",
"entity_type": "gene"
},
{
"created": "2021-05-27T09:57:38.730842+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: parp6 has been classified as Green List (High Evidence).",
"entity_name": "PARP6",
"entity_type": "gene"
},
{
"created": "2021-05-27T09:57:10.048002+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PARP6 as Green List (high evidence)",
"entity_name": "PARP6",
"entity_type": "gene"
},
{
"created": "2021-05-27T09:57:10.037516+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: parp6 has been classified as Green List (High Evidence).",
"entity_name": "PARP6",
"entity_type": "gene"
},
{
"created": "2021-05-27T09:56:17.614635+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3787",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PARP6 was added\ngene: PARP6 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PARP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PARP6 were set to Cells 2021, 10(6), 1289; https://doi.org/10.3390/cells10061289\nPhenotypes for gene: PARP6 were set to Intellectual disability; Epilepsy; Microcephaly\nReview for gene: PARP6 was set to GREEN\nAdded comment: Four unrelated individuals reported with de novo variants in this gene and a neurodevelopmental phenotype. Supportive functional data. One pair of siblings with a homozygous missense: limited evidence for bi-allelic variants causing disease. \nSources: Literature",
"entity_name": "PARP6",
"entity_type": "gene"
},
{
"created": "2021-05-27T07:41:51.568394+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAPKBP1 as ready",
"entity_name": "MAPKBP1",
"entity_type": "gene"
},
{
"created": "2021-05-27T07:41:51.558817+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mapkbp1 has been classified as Green List (High Evidence).",
"entity_name": "MAPKBP1",
"entity_type": "gene"
},
{
"created": "2021-05-27T07:41:41.242301+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAPKBP1 were changed from to Nephronophthisis 20, MIM# 617271; MONDO:0014997",
"entity_name": "MAPKBP1",
"entity_type": "gene"
},
{
"created": "2021-05-27T07:41:21.703135+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7678",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAPKBP1 were set to ",
"entity_name": "MAPKBP1",
"entity_type": "gene"
},
{
"created": "2021-05-27T07:41:01.089785+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MAPKBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MAPKBP1",
"entity_type": "gene"
},
{
"created": "2021-05-27T07:40:43.866222+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7676",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MAPKBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28089251, 33623699, 32505465, 32055034; Phenotypes: Nephronophthisis 20, MIM# 617271, MONDO:0014997; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MAPKBP1",
"entity_type": "gene"
},
{
"created": "2021-05-27T07:40:08.567268+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAPKBP1 as ready",
"entity_name": "MAPKBP1",
"entity_type": "gene"
},
{
"created": "2021-05-27T07:40:08.551750+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mapkbp1 has been classified as Green List (High Evidence).",
"entity_name": "MAPKBP1",
"entity_type": "gene"
},
{
"created": "2021-05-27T07:40:05.440118+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAPKBP1 were changed from to Nephronophthisis 20, MIM# 617271; MONDO:0014997",
"entity_name": "MAPKBP1",
"entity_type": "gene"
},
{
"created": "2021-05-27T07:39:41.279178+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAPKBP1 were set to ",
"entity_name": "MAPKBP1",
"entity_type": "gene"
},
{
"created": "2021-05-27T07:39:17.116924+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MAPKBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MAPKBP1",
"entity_type": "gene"
},
{
"created": "2021-05-27T07:38:52.304658+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MAPKBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28089251, 33623699, 32505465, 32055034; Phenotypes: Nephronophthisis 20, MIM# 617271, MONDO:0014997; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MAPKBP1",
"entity_type": "gene"
},
{
"created": "2021-05-27T07:37:48.766709+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAPKBP1 as ready",
"entity_name": "MAPKBP1",
"entity_type": "gene"
},
{
"created": "2021-05-27T07:37:48.755632+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mapkbp1 has been classified as Green List (High Evidence).",
"entity_name": "MAPKBP1",
"entity_type": "gene"
},
{
"created": "2021-05-27T07:37:46.486667+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAPKBP1 were changed from to Nephronophthisis 20, MIM# 617271; MONDO:0014997",
"entity_name": "MAPKBP1",
"entity_type": "gene"
},
{
"created": "2021-05-27T07:37:10.988633+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAPKBP1 were set to ",
"entity_name": "MAPKBP1",
"entity_type": "gene"
},
{
"created": "2021-05-27T07:36:44.629062+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MAPKBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MAPKBP1",
"entity_type": "gene"
},
{
"created": "2021-05-27T07:36:13.283997+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MAPKBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28089251, 33623699, 32505465, 32055034; Phenotypes: Nephronophthisis 20, MIM# 617271, MONDO:0014997; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MAPKBP1",
"entity_type": "gene"
},
{
"created": "2021-05-26T18:30:48.785940+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPE65 as ready",
"entity_name": "RPE65",
"entity_type": "gene"
},
{
"created": "2021-05-26T18:30:48.776582+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpe65 has been classified as Green List (High Evidence).",
"entity_name": "RPE65",
"entity_type": "gene"
},
{
"created": "2021-05-26T18:30:44.959351+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPE65 as Green List (high evidence)",
"entity_name": "RPE65",
"entity_type": "gene"
},
{
"created": "2021-05-26T18:30:44.946209+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpe65 has been classified as Green List (High Evidence).",
"entity_name": "RPE65",
"entity_type": "gene"
},
{
"created": "2021-05-26T18:30:36.632342+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPE65 was added\ngene: RPE65 was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: RPE65 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: RPE65 were set to 34012068\nPhenotypes for gene: RPE65 were set to RPE-related retinopathy\nReview for gene: RPE65 was set to GREEN\nAdded comment: Included in ACMG V3.0 SF list, available gene therapy may be more effective earlier in disease. \nSources: Expert list",
"entity_name": "RPE65",
"entity_type": "gene"
},
{
"created": "2021-05-26T18:28:55.969941+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HNF1A as ready",
"entity_name": "HNF1A",
"entity_type": "gene"
},
{
"created": "2021-05-26T18:28:55.958808+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnf1a has been classified as Green List (High Evidence).",
"entity_name": "HNF1A",
"entity_type": "gene"
},
{
"created": "2021-05-26T18:28:51.694836+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HNF1A as Green List (high evidence)",
"entity_name": "HNF1A",
"entity_type": "gene"
},
{
"created": "2021-05-26T18:28:51.686508+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnf1a has been classified as Green List (High Evidence).",
"entity_name": "HNF1A",
"entity_type": "gene"
},
{
"created": "2021-05-26T18:28:43.672294+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HNF1A was added\ngene: HNF1A was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: HNF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HNF1A were set to 34012068\nPhenotypes for gene: HNF1A were set to MODY, type III\t, MIM#600496\nReview for gene: HNF1A was set to GREEN\nAdded comment: Included in ACMG V3.0 SF list, accounts for 30-50% of known MODY cases likely to respond to high dose sulfonylureas; early treatment may prevent complications. \nSources: Expert list",
"entity_name": "HNF1A",
"entity_type": "gene"
},
{
"created": "2021-05-26T18:26:42.317311+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ENG as ready",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2021-05-26T18:26:42.306505+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eng has been classified as Green List (High Evidence).",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2021-05-26T18:26:35.070829+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ENG as Green List (high evidence)",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2021-05-26T18:26:35.060575+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eng has been classified as Green List (High Evidence).",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2021-05-26T18:26:19.184320+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ENG was added\ngene: ENG was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ENG were set to 34012068\nPhenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1, MIM#\t187300\nReview for gene: ENG was set to GREEN\nAdded comment: Included in ACMG V3.0 SF list, potential morbidity meets penetrance threshold and has effective intervention. \nSources: Expert list",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2021-05-26T18:24:57.443322+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACVRL1 as ready",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2021-05-26T18:24:57.433628+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acvrl1 has been classified as Green List (High Evidence).",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2021-05-26T18:24:46.371103+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACVRL1 as Green List (high evidence)",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2021-05-26T18:24:46.361633+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acvrl1 has been classified as Green List (High Evidence).",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2021-05-26T18:24:38.874863+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACVRL1 was added\ngene: ACVRL1 was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ACVRL1 were set to 34012068\nPhenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2, MIM#\t600376\nReview for gene: ACVRL1 was set to GREEN\nAdded comment: Included in ACMG V3.0 SF list, potential morbidity meets penetrance threshold and has effective intervention. \nSources: Expert list",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2021-05-26T18:22:40.655543+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GAA as ready",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2021-05-26T18:22:40.644677+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gaa has been classified as Green List (High Evidence).",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2021-05-26T18:22:36.534515+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GAA as Green List (high evidence)",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2021-05-26T18:22:36.522498+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gaa has been classified as Green List (High Evidence).",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2021-05-26T18:22:28.910284+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GAA was added\ngene: GAA was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GAA were set to 34012068\nPhenotypes for gene: GAA were set to Glycogen storage disease II\t232300; Pompe disease\nReview for gene: GAA was set to GREEN\nAdded comment: Included in ACMG V3.0 SF list, presentation can be in adulthood, effective enzyme replacement therapy available. \nSources: Expert list",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2021-05-26T18:20:49.072881+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BTD as ready",
"entity_name": "BTD",
"entity_type": "gene"
},
{
"created": "2021-05-26T18:20:49.062828+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: btd has been classified as Green List (High Evidence).",
"entity_name": "BTD",
"entity_type": "gene"
},
{
"created": "2021-05-26T18:20:37.826974+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BTD as Green List (high evidence)",
"entity_name": "BTD",
"entity_type": "gene"
},
{
"created": "2021-05-26T18:20:37.817867+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: btd has been classified as Green List (High Evidence).",
"entity_name": "BTD",
"entity_type": "gene"
},
{
"created": "2021-05-26T18:20:29.534578+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BTD was added\ngene: BTD was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: BTD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BTD were set to 34012068\nPhenotypes for gene: BTD were set to Biotinidase deficiency, MIM#\t253260\nReview for gene: BTD was set to GREEN\nAdded comment: Included in ACMG SF V3.0, clinical presentation can be in adulthood, features can be non-specific, highly effective treatment available. \nSources: Expert list",
"entity_name": "BTD",
"entity_type": "gene"
},
{
"created": "2021-05-26T18:18:44.060639+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TTN as ready",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2021-05-26T18:18:44.048367+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttn has been classified as Green List (High Evidence).",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2021-05-26T18:18:34.703961+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TTN as Green List (high evidence)",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2021-05-26T18:18:34.694601+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttn has been classified as Green List (High Evidence).",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2021-05-26T18:18:26.353439+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TTN was added\ngene: TTN was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: TTN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TTN were set to 34012068\nPhenotypes for gene: TTN were set to Cardiomyopathy, dilated, 1G, MIM#\t604145\nReview for gene: TTN was set to GREEN\nAdded comment: Included in ACMG V3.0 SF list, risk fo sudden death with preventative interventions available.\r\n\r\nWe note the difficulty in interpreting variants in this gene: truncating variants with previously established pathogenicity to be reported only. \nSources: Expert list",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2021-05-26T18:16:19.781350+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRDN as ready",
"entity_name": "TRDN",
"entity_type": "gene"
},
{
"created": "2021-05-26T18:16:19.769788+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trdn has been classified as Green List (High Evidence).",
"entity_name": "TRDN",
"entity_type": "gene"
},
{
"created": "2021-05-26T18:16:16.461089+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRDN as Green List (high evidence)",
"entity_name": "TRDN",
"entity_type": "gene"
},
{
"created": "2021-05-26T18:16:16.446904+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trdn has been classified as Green List (High Evidence).",
"entity_name": "TRDN",
"entity_type": "gene"
},
{
"created": "2021-05-26T18:15:59.845497+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRDN was added\ngene: TRDN was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: TRDN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRDN were set to 34012068\nPhenotypes for gene: TRDN were set to Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, MIM#\t615441\nReview for gene: TRDN was set to GREEN\nAdded comment: Included in ACMG SF V3.0 list, risk of sudden death with preventative interventions available \nSources: Expert list",
"entity_name": "TRDN",
"entity_type": "gene"
},
{
"created": "2021-05-26T18:10:38.455710+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FLNC as ready",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2021-05-26T18:10:38.443849+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flnc has been classified as Green List (High Evidence).",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2021-05-26T18:10:35.480083+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FLNC as Green List (high evidence)",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2021-05-26T18:10:35.468871+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flnc has been classified as Green List (High Evidence).",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2021-05-26T18:10:26.457032+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FLNC was added\ngene: FLNC was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FLNC were set to 34012068\nPhenotypes for gene: FLNC were set to Cardiomyopathy, familial hypertrophic, 26, MIM#\t617047\nReview for gene: FLNC was set to GREEN\nAdded comment: Included in ACMG SF V3.0, risk of sudden death with preventative interventions available. \nSources: Expert list",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2021-05-26T17:42:57.901962+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Melbourne Genomics; Australian Genomics",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-05-26T17:42:24.719662+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CASQ2 as ready",
"entity_name": "CASQ2",
"entity_type": "gene"
},
{
"created": "2021-05-26T17:42:24.710423+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: casq2 has been classified as Green List (High Evidence).",
"entity_name": "CASQ2",
"entity_type": "gene"
},
{
"created": "2021-05-26T17:42:16.764833+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CASQ2 as Green List (high evidence)",
"entity_name": "CASQ2",
"entity_type": "gene"
},
{
"created": "2021-05-26T17:42:16.753069+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: casq2 has been classified as Green List (High Evidence).",
"entity_name": "CASQ2",
"entity_type": "gene"
},
{
"created": "2021-05-26T17:42:08.242118+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CASQ2 was added\ngene: CASQ2 was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: CASQ2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CASQ2 were set to 34012068\nPhenotypes for gene: CASQ2 were set to Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM#\t611938\nReview for gene: CASQ2 was set to GREEN\nAdded comment: Included in ACMG SF V3.0 list as risk fo sudden death with preventative interventions available. \nSources: Expert list",
"entity_name": "CASQ2",
"entity_type": "gene"
},
{
"created": "2021-05-26T17:40:36.766259+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM127 as ready",
"entity_name": "TMEM127",
"entity_type": "gene"
},
{
"created": "2021-05-26T17:40:36.755737+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem127 has been classified as Green List (High Evidence).",
"entity_name": "TMEM127",
"entity_type": "gene"
},
{
"created": "2021-05-26T17:40:33.147250+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMEM127 as Green List (high evidence)",
"entity_name": "TMEM127",
"entity_type": "gene"
},
{
"created": "2021-05-26T17:40:33.136793+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem127 has been classified as Green List (High Evidence).",
"entity_name": "TMEM127",
"entity_type": "gene"
},
{
"created": "2021-05-26T17:40:25.493057+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM127 was added\ngene: TMEM127 was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: TMEM127 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TMEM127 were set to 34012068\nPhenotypes for gene: TMEM127 were set to {Pheochromocytoma, susceptibility to}\t171300\nReview for gene: TMEM127 was set to GREEN\nAdded comment: Included in ACMG V3.0 SF list as penetrance met threshold to include with other PGL/PCC genes. \nSources: Expert list",
"entity_name": "TMEM127",
"entity_type": "gene"
},
{
"created": "2021-05-26T17:38:57.796886+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PALB2 as ready",
"entity_name": "PALB2",
"entity_type": "gene"
},
{
"created": "2021-05-26T17:38:57.786447+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: palb2 has been classified as Green List (High Evidence).",
"entity_name": "PALB2",
"entity_type": "gene"
}
]
}