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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1713",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1711",
"results": [
{
"created": "2020-07-24T13:29:31.342070+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3503",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACOX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32169171, 17458872; Phenotypes: Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470, Mitchell syndrome, MIM# 618960; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ACOX1",
"entity_type": "gene"
},
{
"created": "2020-07-24T13:24:21.395160+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LZTFL1 as ready",
"entity_name": "LZTFL1",
"entity_type": "gene"
},
{
"created": "2020-07-24T13:24:21.382871+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lztfl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LZTFL1",
"entity_type": "gene"
},
{
"created": "2020-07-24T13:24:17.529013+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LZTFL1 as Amber List (moderate evidence)",
"entity_name": "LZTFL1",
"entity_type": "gene"
},
{
"created": "2020-07-24T13:24:17.518427+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lztfl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LZTFL1",
"entity_type": "gene"
},
{
"created": "2020-07-24T13:23:11.637996+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LRRC56 as ready",
"entity_name": "LRRC56",
"entity_type": "gene"
},
{
"created": "2020-07-24T13:23:11.624445+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrrc56 has been classified as Green List (High Evidence).",
"entity_name": "LRRC56",
"entity_type": "gene"
},
{
"created": "2020-07-24T13:23:06.826398+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LRRC56 as Green List (high evidence)",
"entity_name": "LRRC56",
"entity_type": "gene"
},
{
"created": "2020-07-24T13:23:06.818246+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrrc56 has been classified as Green List (High Evidence).",
"entity_name": "LRRC56",
"entity_type": "gene"
},
{
"created": "2020-07-24T13:22:18.722981+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3503",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MNS1 were changed from Heterotaxy; male infertility to Heterotaxy; male infertility; Heterotaxy, visceral, 9, autosomal, with male infertility, MIM# 618948",
"entity_name": "MNS1",
"entity_type": "gene"
},
{
"created": "2020-07-24T13:21:58.456411+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3502",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MNS1: Changed phenotypes: Heterotaxy, male infertility, Heterotaxy, visceral, 9, autosomal, with male infertility, MIM# 618948",
"entity_name": "MNS1",
"entity_type": "gene"
},
{
"created": "2020-07-24T13:21:37.881578+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MNS1 were changed from Heterotaxy; male infertility to Heterotaxy; male infertility; Heterotaxy, visceral, 9, autosomal, with male infertility, MIM#\t618948",
"entity_name": "MNS1",
"entity_type": "gene"
},
{
"created": "2020-07-24T13:21:02.378459+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MNS1: Changed phenotypes: Heterotaxy, male infertility, Heterotaxy, visceral, 9, autosomal, with male infertility 618948",
"entity_name": "MNS1",
"entity_type": "gene"
},
{
"created": "2020-07-24T12:55:20.667836+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.43",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel types changed to Australian Genomics; Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-07-24T12:29:16.966260+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MPL as ready",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2020-07-24T12:29:16.956999+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpl has been classified as Green List (High Evidence).",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2020-07-24T12:29:13.144286+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MPL were changed from to Myelofibrosis with myeloid metaplasia, somatic, MIM#2544503; Thrombocythemia 2, MIM#601977, AD, SMu; Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2020-07-24T12:28:48.558375+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MPL were set to ",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2020-07-24T12:28:23.027558+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MPL was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2020-07-24T12:27:55.450912+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 28955303, 26423830; Phenotypes: Myelofibrosis with myeloid metaplasia, somatic, MIM#2544503, Thrombocythemia 2, MIM#601977, AD, SMu, Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2020-07-24T12:27:09.634842+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3502",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MPL as ready",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2020-07-24T12:27:09.625915+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3502",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpl has been classified as Green List (High Evidence).",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2020-07-24T12:27:03.143102+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3502",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MPL were changed from to Myelofibrosis with myeloid metaplasia, somatic, MIM#2544503; Thrombocythemia 2, MIM#601977, AD, SMu; Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2020-07-24T12:26:46.263625+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3501",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MPL were set to ",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2020-07-24T12:26:25.250369+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3500",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MPL was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2020-07-24T12:25:30.595719+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3499",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SH2B3 as ready",
"entity_name": "SH2B3",
"entity_type": "gene"
},
{
"created": "2020-07-24T12:25:30.585262+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3499",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sh2b3 has been classified as Green List (High Evidence).",
"entity_name": "SH2B3",
"entity_type": "gene"
},
{
"created": "2020-07-24T12:25:24.842700+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3499",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SH2B3 were changed from to Predisposition to haematological malignancies",
"entity_name": "SH2B3",
"entity_type": "gene"
},
{
"created": "2020-07-24T12:25:10.205172+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SH2B3 were set to ",
"entity_name": "SH2B3",
"entity_type": "gene"
},
{
"created": "2020-07-24T12:24:50.478028+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SH2B3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SH2B3",
"entity_type": "gene"
},
{
"created": "2020-07-24T12:24:35.938450+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Germline variants reported in association with increased risk for haematological malignancies.; to: Germline variants reported in association with increased risk for haematological malignancies.",
"entity_name": "SH2B3",
"entity_type": "gene"
},
{
"created": "2020-07-24T12:24:11.622029+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SH2B3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26457647, 23908464, 31102422, 31173385; Phenotypes: Predisposition to haematological malignancies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SH2B3",
"entity_type": "gene"
},
{
"created": "2020-07-24T12:23:08.496468+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SH2B3 was changed from Other to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SH2B3",
"entity_type": "gene"
},
{
"created": "2020-07-24T12:21:03.920360+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SH2B3 as ready",
"entity_name": "SH2B3",
"entity_type": "gene"
},
{
"created": "2020-07-24T12:21:03.912222+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sh2b3 has been classified as Green List (High Evidence).",
"entity_name": "SH2B3",
"entity_type": "gene"
},
{
"created": "2020-07-24T12:21:01.620429+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SH2B3 were changed from to Predisposition to haematological malignancies",
"entity_name": "SH2B3",
"entity_type": "gene"
},
{
"created": "2020-07-24T12:20:40.834303+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SH2B3 were set to ",
"entity_name": "SH2B3",
"entity_type": "gene"
},
{
"created": "2020-07-24T12:20:23.985097+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SH2B3 was changed from Unknown to Other",
"entity_name": "SH2B3",
"entity_type": "gene"
},
{
"created": "2020-07-24T11:38:01.439284+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:KCTD7 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-07-24T11:26:28.875862+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:GRN from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-07-24T11:22:20.781676+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNE as ready",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2020-07-24T11:22:20.773076+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gne has been classified as Green List (High Evidence).",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2020-07-24T11:22:16.960469+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GNE as Green List (high evidence)",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2020-07-24T11:22:16.951433+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gne has been classified as Green List (High Evidence).",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2020-07-24T11:21:54.276220+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNE was added\ngene: GNE was added to Lysosomal Storage Disorder. Sources: Expert list\nMode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GNE were set to Nonaka myopathy, MIM#\t605820\nReview for gene: GNE was set to GREEN\nAdded comment: Myopathy characterised by rimmed vacuoles on biopsy. \nSources: Expert list",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2020-07-24T11:14:41.705681+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GM2A as ready",
"entity_name": "GM2A",
"entity_type": "gene"
},
{
"created": "2020-07-24T11:14:41.694176+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gm2a has been classified as Green List (High Evidence).",
"entity_name": "GM2A",
"entity_type": "gene"
},
{
"created": "2020-07-24T11:14:38.417361+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GM2A as Green List (high evidence)",
"entity_name": "GM2A",
"entity_type": "gene"
},
{
"created": "2020-07-24T11:14:38.408048+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gm2a has been classified as Green List (High Evidence).",
"entity_name": "GM2A",
"entity_type": "gene"
},
{
"created": "2020-07-24T11:14:12.167018+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GM2A was added\ngene: GM2A was added to Lysosomal Storage Disorder. Sources: Expert list\nMode of inheritance for gene: GM2A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GM2A were set to GM2-gangliosidosis, AB variant, MIM#\t272750\nReview for gene: GM2A was set to GREEN\nAdded comment: Well established gene-disease association. \nSources: Expert list",
"entity_name": "GM2A",
"entity_type": "gene"
},
{
"created": "2020-07-24T11:10:49.100459+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:EPM2A from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-07-24T11:09:06.012986+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTSF as ready",
"entity_name": "CTSF",
"entity_type": "gene"
},
{
"created": "2020-07-24T11:09:06.000595+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctsf has been classified as Green List (High Evidence).",
"entity_name": "CTSF",
"entity_type": "gene"
},
{
"created": "2020-07-24T11:09:03.592764+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CTSF were changed from to Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM# 615362",
"entity_name": "CTSF",
"entity_type": "gene"
},
{
"created": "2020-07-24T11:08:40.960044+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CTSF were set to ",
"entity_name": "CTSF",
"entity_type": "gene"
},
{
"created": "2020-07-24T11:08:14.662289+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CTSF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTSF",
"entity_type": "gene"
},
{
"created": "2020-07-24T11:07:50.671134+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CTSF: Rating: GREEN; Mode of pathogenicity: None; Publications: 28749476, 27668283, 27524508; Phenotypes: Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM# 615362; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTSF",
"entity_type": "gene"
},
{
"created": "2020-07-24T11:06:19.151838+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP13A2 as ready",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2020-07-24T11:06:19.140712+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp13a2 has been classified as Green List (High Evidence).",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2020-07-24T11:06:16.925621+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP13A2 were changed from to Spastic paraplegia 78, autosomal recessive 617225",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2020-07-24T11:05:50.931365+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP13A2 were set to ",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2020-07-24T11:05:30.429514+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP13A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2020-07-24T11:05:06.592329+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28137957, 31996848; Phenotypes: Spastic paraplegia 78, autosomal recessive 617225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2020-07-24T10:54:00.513417+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3496",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: MPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 28955303, 26423830; Phenotypes: Myelofibrosis with myeloid metaplasia, somatic, MIM#2544503, Thrombocythemia 2, MIM#601977, AD, SMu, Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2020-07-24T10:44:56.255920+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.18",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: SH2B3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26457647, 23908464, 31102422, 31173385; Phenotypes: Predisposition to haematological malignancies; Mode of inheritance: Other",
"entity_name": "SH2B3",
"entity_type": "gene"
},
{
"created": "2020-07-24T10:39:24.915973+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HPD as ready",
"entity_name": "HPD",
"entity_type": "gene"
},
{
"created": "2020-07-24T10:39:24.907669+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hpd has been classified as Green List (High Evidence).",
"entity_name": "HPD",
"entity_type": "gene"
},
{
"created": "2020-07-24T10:39:17.595498+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HPD were changed from to Hawkinsinuria (MIM#140350), AD; Tyrosinemia type III (MIM#276710), AR",
"entity_name": "HPD",
"entity_type": "gene"
},
{
"created": "2020-07-24T10:38:58.205334+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3495",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HPD were set to ",
"entity_name": "HPD",
"entity_type": "gene"
},
{
"created": "2020-07-24T10:38:39.255561+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HPD was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "HPD",
"entity_type": "gene"
},
{
"created": "2020-07-24T10:38:18.839729+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HPD: Rating: GREEN; Mode of pathogenicity: None; Publications: 10942115, 17560158; Phenotypes: Hawkinsinuria (MIM#140350), AD, Tyrosinemia type III (MIM#276710), AR; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "HPD",
"entity_type": "gene"
},
{
"created": "2020-07-24T10:07:58.064192+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.7",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: HPD: Rating: GREEN; Mode of pathogenicity: None; Publications: 10942115, 17560158; Phenotypes: Hawkinsinuria (MIM#140350), AD, Tyrosinemia type III (MIM#276710), AR; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "HPD",
"entity_type": "gene"
},
{
"created": "2020-07-24T09:58:45.593913+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-07-24T09:56:58.731371+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCM as ready",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2020-07-24T09:56:58.719850+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancm has been classified as Amber List (Moderate Evidence).",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2020-07-24T09:56:52.017587+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCM were changed from to Spermatogenic failure 28, MIM# 618086",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2020-07-24T09:56:36.483270+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FANCM were set to ",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2020-07-24T09:56:19.868017+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FANCM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2020-07-24T09:56:04.651349+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FANCM as Amber List (moderate evidence)",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2020-07-24T09:56:04.641671+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancm has been classified as Amber List (Moderate Evidence).",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2020-07-24T09:55:47.448903+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FANCM: Rating: AMBER; Mode of pathogenicity: None; Publications: 30075111, 29895858, 28837162; Phenotypes: Spermatogenic failure 28, MIM# 618086; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2020-07-24T09:54:16.328035+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag refuted tag was added to gene: FANCM.",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2020-07-24T09:53:56.328662+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCM as ready",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2020-07-24T09:53:56.320149+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancm has been classified as Red List (Low Evidence).",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2020-07-24T09:53:49.807817+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag refuted tag was added to gene: FANCM.",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2020-07-24T09:53:42.473290+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCM were changed from to Fanconi anaemia",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2020-07-24T09:53:21.193965+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FANCM were set to ",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2020-07-24T09:52:56.506436+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FANCM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2020-07-24T09:52:32.399987+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FANCM as Red List (low evidence)",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2020-07-24T09:52:32.391672+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancm has been classified as Red List (Low Evidence).",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2020-07-24T09:52:09.333436+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FANCM: Rating: RED; Mode of pathogenicity: None; Publications: 28837162; Phenotypes: Fanconi anaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2020-07-24T09:49:50.615138+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag refuted tag was added to gene: FANCM.",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2020-07-24T09:49:43.815014+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCM as ready",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2020-07-24T09:49:43.803703+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancm has been classified as Red List (Low Evidence).",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2020-07-24T09:49:40.891044+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCM were changed from to Fanconi anaemia",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2020-07-24T09:49:19.801028+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FANCM were set to ",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2020-07-24T09:48:58.140668+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FANCM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2020-07-24T09:48:39.282302+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FANCM as Red List (low evidence)",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2020-07-24T09:48:39.272025+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancm has been classified as Red List (Low Evidence).",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2020-07-24T09:48:13.038134+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FANCM: Rating: RED; Mode of pathogenicity: None; Publications: 28837162; Phenotypes: Fanconi anaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCM",
"entity_type": "gene"
}
]
}