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{
"count": 220725,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2022",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2020",
"results": [
{
"created": "2019-12-31T09:37:51.874572+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atxn10 has been classified as Red List (Low Evidence).",
"entity_name": "ATXN10",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:37:41.567051+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATXN10: Rating: RED; Mode of pathogenicity: None; Publications: 21565611; Phenotypes: Nephronophthisis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATXN10",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:25:14.973522+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NUP188 as ready",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:25:14.962820+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup188 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:25:04.707095+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NUP188 were changed from to microcephaly; ID; cataract",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:24:51.460307+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NUP188 were set to ",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:24:37.780685+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NUP188 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:23:58.040692+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NUP188 as Amber List (moderate evidence)",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:23:58.028874+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup188 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:23:40.105314+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NUP188: Rating: AMBER; Mode of pathogenicity: None; Publications: https://doi.org/10.1159/000504818, 28726809; Phenotypes: microcephaly, ID, cataract; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:22:55.173210+11:00",
"panel_name": "Cataract_VCGS",
"panel_id": 66,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NUP188 as ready",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:22:55.161275+11:00",
"panel_name": "Cataract_VCGS",
"panel_id": 66,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup188 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:22:51.753992+11:00",
"panel_name": "Cataract_VCGS",
"panel_id": 66,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NUP188 were changed from to microcephaly; ID; cataract",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:22:29.229763+11:00",
"panel_name": "Cataract_VCGS",
"panel_id": 66,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NUP188 were set to ",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:22:05.468841+11:00",
"panel_name": "Cataract_VCGS",
"panel_id": 66,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NUP188 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:21:37.097582+11:00",
"panel_name": "Cataract_VCGS",
"panel_id": 66,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NUP188 as Amber List (moderate evidence)",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:21:37.086092+11:00",
"panel_name": "Cataract_VCGS",
"panel_id": 66,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup188 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:21:08.542381+11:00",
"panel_name": "Cataract_VCGS",
"panel_id": 66,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NUP188: Rating: AMBER; Mode of pathogenicity: None; Publications: https://doi.org/10.1159/000504818, 28726809; Phenotypes: microcephaly, ID, cataract; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:20:28.606454+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NUP188 as ready",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:20:28.595335+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup188 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:20:26.224850+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NUP188 were changed from to microcephaly; ID; cataract",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:20:02.635761+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NUP188 were set to ",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:19:39.409861+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NUP188 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:19:15.516969+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NUP188 as Amber List (moderate evidence)",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:19:15.503587+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup188 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:18:44.243918+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NUP188: Rating: AMBER; Mode of pathogenicity: None; Publications: https://doi.org/10.1159/000504818, 28726809; Phenotypes: microcephaly, ID, cataract; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:17:13.449007+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NUP188 as ready",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:17:13.436846+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup188 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:16:59.335690+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NUP188 as Amber List (moderate evidence)",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:16:59.323180+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup188 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2019-12-31T08:32:58.354536+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC5A6 as ready",
"entity_name": "SLC5A6",
"entity_type": "gene"
},
{
"created": "2019-12-31T08:32:58.343595+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc5a6 has been classified as Green List (High Evidence).",
"entity_name": "SLC5A6",
"entity_type": "gene"
},
{
"created": "2019-12-31T08:32:48.933154+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC5A6 as Green List (high evidence)",
"entity_name": "SLC5A6",
"entity_type": "gene"
},
{
"created": "2019-12-31T08:32:48.909358+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc5a6 has been classified as Green List (High Evidence).",
"entity_name": "SLC5A6",
"entity_type": "gene"
},
{
"created": "2019-12-31T08:32:29.793268+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC5A6 was added\ngene: SLC5A6 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC5A6 were set to 31754459; 27904971\nPhenotypes for gene: SLC5A6 were set to Developmental delay; epilepsy; neurodegeneration\nReview for gene: SLC5A6 was set to GREEN\nAdded comment: Two unrelated families reported, functional data and some evidence of response to treatment. \nSources: Literature",
"entity_name": "SLC5A6",
"entity_type": "gene"
},
{
"created": "2019-12-31T08:30:25.076031+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC5A6 as ready",
"entity_name": "SLC5A6",
"entity_type": "gene"
},
{
"created": "2019-12-31T08:30:25.065113+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc5a6 has been classified as Green List (High Evidence).",
"entity_name": "SLC5A6",
"entity_type": "gene"
},
{
"created": "2019-12-31T08:30:20.736441+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC5A6 as Green List (high evidence)",
"entity_name": "SLC5A6",
"entity_type": "gene"
},
{
"created": "2019-12-31T08:30:20.724476+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc5a6 has been classified as Green List (High Evidence).",
"entity_name": "SLC5A6",
"entity_type": "gene"
},
{
"created": "2019-12-31T08:29:50.475399+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC5A6 was added\ngene: SLC5A6 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature\nMode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC5A6 were set to 31754459; 27904971\nPhenotypes for gene: SLC5A6 were set to Developmental delay; epilepsy; neurodegeneration\nReview for gene: SLC5A6 was set to GREEN\nAdded comment: Two unrelated families reported, functional data and some evidence of response to treatment. \nSources: Literature",
"entity_name": "SLC5A6",
"entity_type": "gene"
},
{
"created": "2019-12-31T08:28:15.943733+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC5A6 as ready",
"entity_name": "SLC5A6",
"entity_type": "gene"
},
{
"created": "2019-12-31T08:28:15.931667+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc5a6 has been classified as Green List (High Evidence).",
"entity_name": "SLC5A6",
"entity_type": "gene"
},
{
"created": "2019-12-31T08:28:10.896612+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC5A6 as Green List (high evidence)",
"entity_name": "SLC5A6",
"entity_type": "gene"
},
{
"created": "2019-12-31T08:28:10.881411+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc5a6 has been classified as Green List (High Evidence).",
"entity_name": "SLC5A6",
"entity_type": "gene"
},
{
"created": "2019-12-31T08:27:57.746494+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1448",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC5A6 was added\ngene: SLC5A6 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC5A6 were set to 31754459; 27904971\nPhenotypes for gene: SLC5A6 were set to Developmental delay; epilepsy; neurodegeneration\nReview for gene: SLC5A6 was set to GREEN\nAdded comment: Two unrelated families reported, functional data and some evidence of response to treatment. \nSources: Literature",
"entity_name": "SLC5A6",
"entity_type": "gene"
},
{
"created": "2019-12-31T08:26:30.386416+11:00",
"panel_name": "Regression_VCGS",
"panel_id": 206,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC5A6 as ready",
"entity_name": "SLC5A6",
"entity_type": "gene"
},
{
"created": "2019-12-31T08:26:30.374253+11:00",
"panel_name": "Regression_VCGS",
"panel_id": 206,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc5a6 has been classified as Green List (High Evidence).",
"entity_name": "SLC5A6",
"entity_type": "gene"
},
{
"created": "2019-12-31T08:26:27.044286+11:00",
"panel_name": "Regression_VCGS",
"panel_id": 206,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC5A6 as Green List (high evidence)",
"entity_name": "SLC5A6",
"entity_type": "gene"
},
{
"created": "2019-12-31T08:26:26.992552+11:00",
"panel_name": "Regression_VCGS",
"panel_id": 206,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc5a6 has been classified as Green List (High Evidence).",
"entity_name": "SLC5A6",
"entity_type": "gene"
},
{
"created": "2019-12-31T08:25:58.071131+11:00",
"panel_name": "Regression_VCGS",
"panel_id": 206,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC5A6 was added\ngene: SLC5A6 was added to Regression_VCGS. Sources: Literature\nMode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC5A6 were set to 31754459; 27904971\nPhenotypes for gene: SLC5A6 were set to Developmental delay; epilepsy; neurodegeneration\nReview for gene: SLC5A6 was set to GREEN\nAdded comment: Two unrelated families reported, functional data and some evidence of response to treatment. \nSources: Literature",
"entity_name": "SLC5A6",
"entity_type": "gene"
},
{
"created": "2019-12-31T06:49:09.595151+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTH1R as ready",
"entity_name": "PTH1R",
"entity_type": "gene"
},
{
"created": "2019-12-31T06:49:09.584363+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pth1r has been classified as Green List (High Evidence).",
"entity_name": "PTH1R",
"entity_type": "gene"
},
{
"created": "2019-12-31T06:49:03.878989+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PTH1R as Green List (high evidence)",
"entity_name": "PTH1R",
"entity_type": "gene"
},
{
"created": "2019-12-31T06:49:03.866554+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pth1r has been classified as Green List (High Evidence).",
"entity_name": "PTH1R",
"entity_type": "gene"
},
{
"created": "2019-12-31T06:47:55.612667+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PKLR as ready",
"entity_name": "PKLR",
"entity_type": "gene"
},
{
"created": "2019-12-31T06:47:55.600656+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pklr has been classified as Green List (High Evidence).",
"entity_name": "PKLR",
"entity_type": "gene"
},
{
"created": "2019-12-31T06:47:52.541849+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PKLR were changed from to Pyruvate Kinase deficiency, MIM#\t266200",
"entity_name": "PKLR",
"entity_type": "gene"
},
{
"created": "2019-12-31T06:46:31.656793+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PKLR as Green List (high evidence)",
"entity_name": "PKLR",
"entity_type": "gene"
},
{
"created": "2019-12-31T06:46:31.644794+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pklr has been classified as Green List (High Evidence).",
"entity_name": "PKLR",
"entity_type": "gene"
},
{
"created": "2019-12-31T06:43:12.737373+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPL11 as ready",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2019-12-31T06:43:12.724925+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl11 has been classified as Red List (Low Evidence).",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2019-12-31T06:43:09.614206+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPL11 as Red List (low evidence)",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2019-12-31T06:43:09.601421+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl11 has been classified as Red List (Low Evidence).",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2019-12-31T06:36:41.571652+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1447",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NUP188 were changed from to microcephaly; ID; cataract",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2019-12-31T06:36:34.516724+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NUP188 were set to ",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2019-12-31T06:36:10.918394+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1445",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NUP188 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2019-12-31T06:35:56.089250+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NUP188: Rating: GREEN; Mode of pathogenicity: None; Publications: https://doi.org/10.1159/000504818, 28726809; Phenotypes: microcephaly, ID, cataract; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2019-12-31T00:23:54.396940+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.100",
"user_name": "George McGillivray",
"item_type": "entity",
"text": "gene: RPL11 was added\ngene: RPL11 was added to Hydrops fetalis_VCGS. Sources: Expert list\nMode of inheritance for gene: RPL11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RPL11 were set to Diamond-Blackfan anemia 7\nReview for gene: RPL11 was set to RED\nAdded comment: I can't find a published link between RPL11 and hydrops fetalis.\r\nHowever, there are 8 Case reports of DBA (molecular type not specified) with hydrops fetalis so this gene/ DBA phenotype should be revisited in future\r\nPMIDs 8926615;8734811;8734811;9166327;3140685;14655096;3222219;15004307;17828794 \nSources: Expert list",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2019-12-30T23:21:27.157900+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.100",
"user_name": "George McGillivray",
"item_type": "entity",
"text": "edited their review of gene: PKLR: Changed phenotypes: Pyruvate Kinase deficiency",
"entity_name": "PKLR",
"entity_type": "gene"
},
{
"created": "2019-12-30T23:20:33.355405+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.100",
"user_name": "George McGillivray",
"item_type": "entity",
"text": "gene: PTH1R was added\ngene: PTH1R was added to Hydrops fetalis_VCGS. Sources: Expert list\nMode of inheritance for gene: PTH1R was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PTH1R were set to 3975110; 9268097; 8723092\nPhenotypes for gene: PTH1R were set to CHONDRODYSPLASIA, BLOMSTRAND TYPE; BOCD\nReview for gene: PTH1R was set to GREEN\nAdded comment: PMID 3975110\r\nOriginal case report \"The infant was hydropic, showed macroglossia and had very short limbs with normal sized hands and feet\"\r\nPMID 9268097\r\nSibling fetuses were both hydropic at 26 and 33 weeks' gestation.\r\nPMID 8723092:\r\nBoth fetuses hydropic, one grossly so. \nSources: Expert list",
"entity_name": "PTH1R",
"entity_type": "gene"
},
{
"created": "2019-12-30T22:40:41.906269+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.100",
"user_name": "George McGillivray",
"item_type": "entity",
"text": "gene: PKLR was added\ngene: PKLR was added to Hydrops fetalis_VCGS. Sources: Expert list\nMode of inheritance for gene: PKLR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PKLR were set to 29549173; 8285758; 10923218\nReview for gene: PKLR was set to GREEN\nAdded comment: PMID 29549173:\r\nA large cohort study (n=233) documented fetal anaemia requiring transfusion in 13% of affected fetuses and hydrops fetalis in 4%. \nSources: Expert list",
"entity_name": "PKLR",
"entity_type": "gene"
},
{
"created": "2019-12-30T22:00:29.265432+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GRN as ready",
"entity_name": "GRN",
"entity_type": "gene"
},
{
"created": "2019-12-30T22:00:29.252935+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: grn has been classified as Green List (High Evidence).",
"entity_name": "GRN",
"entity_type": "gene"
},
{
"created": "2019-12-30T22:00:17.134647+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GRN as Green List (high evidence)",
"entity_name": "GRN",
"entity_type": "gene"
},
{
"created": "2019-12-30T22:00:17.123864+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: grn has been classified as Green List (High Evidence).",
"entity_name": "GRN",
"entity_type": "gene"
},
{
"created": "2019-12-30T22:00:05.542220+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GRN was added\ngene: GRN was added to Dystonia - complex_RMH. Sources: Expert list\nMode of inheritance for gene: GRN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GRN were set to Frontotemporal lobar degeneration with ubiquitin-positive inclusions,\tMIM#607485\nReview for gene: GRN was set to GREEN\nAdded comment: Dystonia is a reported feature of the phenotype \nSources: Expert list",
"entity_name": "GRN",
"entity_type": "gene"
},
{
"created": "2019-12-30T21:45:10.384509+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GM2A as ready",
"entity_name": "GM2A",
"entity_type": "gene"
},
{
"created": "2019-12-30T21:45:10.372509+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gm2a has been classified as Green List (High Evidence).",
"entity_name": "GM2A",
"entity_type": "gene"
},
{
"created": "2019-12-30T21:45:06.347765+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GM2A as Green List (high evidence)",
"entity_name": "GM2A",
"entity_type": "gene"
},
{
"created": "2019-12-30T21:45:06.333594+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gm2a has been classified as Green List (High Evidence).",
"entity_name": "GM2A",
"entity_type": "gene"
},
{
"created": "2019-12-30T21:44:53.436916+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GM2A was added\ngene: GM2A was added to Dystonia - complex_RMH. 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#272750\nReview for gene: GM2A was set to GREEN\nAdded comment: Dystonia is a feature of the phenotype \nSources: Expert list",
"entity_name": "GM2A",
"entity_type": "gene"
},
{
"created": "2019-12-30T21:43:59.839861+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.11",
"user_name": "Lilian Rudd",
"item_type": "entity",
"text": "reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 25052316, PMID: 29788902; Phenotypes: Baraitser-Winter syndrome, Deafness-dystonia syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2019-12-30T21:29:46.960365+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GALT as ready",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2019-12-30T21:29:46.949515+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: galt has been classified as Green List (High Evidence).",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2019-12-30T21:29:36.900286+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GALT as Green List (high evidence)",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2019-12-30T21:29:36.888284+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: galt has been classified as Green List (High Evidence).",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2019-12-30T21:29:10.884866+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GALT was added\ngene: GALT was added to Dystonia - complex_RMH. Sources: Expert list\nMode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GALT were set to 30718057\nPhenotypes for gene: GALT were set to Galactosemia,\tMIM#230400\nReview for gene: GALT was set to GREEN\nAdded comment: Dystonia can be a feature of the phenotype (PMID: 30718057). \nSources: Expert list",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2019-12-30T21:18:25.172817+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FUCA1 as ready",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2019-12-30T21:18:25.160298+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fuca1 has been classified as Green List (High Evidence).",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2019-12-30T21:18:03.976181+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FUCA1 as Green List (high evidence)",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2019-12-30T21:18:03.964144+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fuca1 has been classified as Green List (High Evidence).",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2019-12-30T21:17:41.052976+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FUCA1 was added\ngene: FUCA1 was added to Dystonia - complex_RMH. Sources: Expert list\nMode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FUCA1 were set to 31064022\nPhenotypes for gene: FUCA1 were set to Fucosidosis, MIM#230000\nReview for gene: FUCA1 was set to GREEN\nAdded comment: Dystonia can be a feature of the phenotype. Dystonia was present in 9/75 Fucosidosis cases in a literature review (PMID: 31064022). \nSources: Expert list",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2019-12-30T20:16:40.226015+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ARSA as ready",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2019-12-30T20:16:40.214440+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: arsa has been classified as Green List (High Evidence).",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2019-12-30T20:16:22.845016+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ARSA as Green List (high evidence)",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2019-12-30T20:16:22.833327+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: arsa has been classified as Green List (High Evidence).",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2019-12-30T20:16:05.053453+11:00",
"panel_name": "Dystonia - complex_RMH",
"panel_id": 290,
"panel_version": "0.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ARSA was added\ngene: ARSA was added to Dystonia - complex_RMH. Sources: Expert list\nMode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARSA were set to Metachromatic leukodystrophy, MIM#250100\nReview for gene: ARSA was set to GREEN\nAdded comment: Dystonia is a feature of the phenotype \nSources: Expert list",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2019-12-30T20:08:18.116425+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KLF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2019-12-30T20:08:17.261927+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KLF1 as ready",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2019-12-30T20:08:17.248474+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klf1 has been classified as Green List (High Evidence).",
"entity_name": "KLF1",
"entity_type": "gene"
}
]
}