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{
"count": 220842,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1965",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1963",
"results": [
{
"created": "2020-01-24T21:21:38.393332+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFA2 were changed from Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000 to Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000",
"entity_name": "NDUFA2",
"entity_type": "gene"
},
{
"created": "2020-01-24T21:21:30.865582+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFA2 as ready",
"entity_name": "NDUFA2",
"entity_type": "gene"
},
{
"created": "2020-01-24T21:21:30.856849+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFA2",
"entity_type": "gene"
},
{
"created": "2020-01-24T21:21:06.885104+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFA2 were changed from to Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000",
"entity_name": "NDUFA2",
"entity_type": "gene"
},
{
"created": "2020-01-24T21:20:35.777622+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFA2 were set to ",
"entity_name": "NDUFA2",
"entity_type": "gene"
},
{
"created": "2020-01-24T21:20:00.405270+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFA2",
"entity_type": "gene"
},
{
"created": "2020-01-24T21:19:25.773270+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFA2 as Amber List (moderate evidence)",
"entity_name": "NDUFA2",
"entity_type": "gene"
},
{
"created": "2020-01-24T21:19:25.765811+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFA2",
"entity_type": "gene"
},
{
"created": "2020-01-24T21:18:40.148989+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NDUFA2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28857146, 18513682; Phenotypes: Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFA2",
"entity_type": "gene"
},
{
"created": "2020-01-24T20:31:04.320282+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFA11 were changed from Mitochondrial complex I deficiency, nuclear type 14, MIM#618236 to Mitochondrial complex I deficiency, nuclear type 14, MIM#618236",
"entity_name": "NDUFA11",
"entity_type": "gene"
},
{
"created": "2020-01-24T20:31:03.269403+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFA11 as ready",
"entity_name": "NDUFA11",
"entity_type": "gene"
},
{
"created": "2020-01-24T20:31:03.260938+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa11 has been classified as Red List (Low Evidence).",
"entity_name": "NDUFA11",
"entity_type": "gene"
},
{
"created": "2020-01-24T20:30:33.484381+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFA11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFA11",
"entity_type": "gene"
},
{
"created": "2020-01-24T20:30:03.488778+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFA11 were changed from to Mitochondrial complex I deficiency, nuclear type 14, MIM#618236",
"entity_name": "NDUFA11",
"entity_type": "gene"
},
{
"created": "2020-01-24T20:29:38.252828+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDP as ready",
"entity_name": "NDP",
"entity_type": "gene"
},
{
"created": "2020-01-24T20:29:37.545792+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndp has been classified as Red List (Low Evidence).",
"entity_name": "NDP",
"entity_type": "gene"
},
{
"created": "2020-01-24T20:29:31.685258+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDP were changed from Norrie disease, MIM#310600 to Norrie disease, MIM#310600",
"entity_name": "NDP",
"entity_type": "gene"
},
{
"created": "2020-01-24T20:29:00.086095+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDP were changed from to Norrie disease, MIM#310600",
"entity_name": "NDP",
"entity_type": "gene"
},
{
"created": "2020-01-24T20:28:29.978998+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFA11 were set to ",
"entity_name": "NDUFA11",
"entity_type": "gene"
},
{
"created": "2020-01-24T20:27:59.084892+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDP were set to ",
"entity_name": "NDP",
"entity_type": "gene"
},
{
"created": "2020-01-24T20:27:28.459158+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFA11 as Red List (low evidence)",
"entity_name": "NDUFA11",
"entity_type": "gene"
},
{
"created": "2020-01-24T20:27:28.450621+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa11 has been classified as Red List (Low Evidence).",
"entity_name": "NDUFA11",
"entity_type": "gene"
},
{
"created": "2020-01-24T20:26:46.478861+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NDUFA11: Rating: RED; Mode of pathogenicity: None; Publications: 18306244, 31074871; Phenotypes: Mitochondrial complex I deficiency, nuclear type 14, MIM#618236; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFA11",
"entity_type": "gene"
},
{
"created": "2020-01-24T20:26:03.984440+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDP was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NDP",
"entity_type": "gene"
},
{
"created": "2020-01-24T20:22:36.320649+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDP as Red List (low evidence)",
"entity_name": "NDP",
"entity_type": "gene"
},
{
"created": "2020-01-24T20:22:36.313337+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndp has been classified as Red List (Low Evidence).",
"entity_name": "NDP",
"entity_type": "gene"
},
{
"created": "2020-01-24T20:21:55.050074+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NDP: Rating: RED; Mode of pathogenicity: None; Publications: 17334993; Phenotypes: Norrie disease, MIM#310600; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NDP",
"entity_type": "gene"
},
{
"created": "2020-01-24T20:20:41.918541+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1676",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NBEA as ready",
"entity_name": "NBEA",
"entity_type": "gene"
},
{
"created": "2020-01-24T20:20:41.908789+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1676",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nbea has been classified as Green List (High Evidence).",
"entity_name": "NBEA",
"entity_type": "gene"
},
{
"created": "2020-01-24T20:20:11.870336+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1676",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NBEA as Green List (high evidence)",
"entity_name": "NBEA",
"entity_type": "gene"
},
{
"created": "2020-01-24T20:20:11.861346+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1676",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nbea has been classified as Green List (High Evidence).",
"entity_name": "NBEA",
"entity_type": "gene"
},
{
"created": "2020-01-24T20:19:13.215587+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1675",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NBEA was added\ngene: NBEA was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: NBEA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NBEA were set to 30269351; 28554332; 12746398; 12826745; 11450821; 3377648; 23277425; 22109531; 23153818\nPhenotypes for gene: NBEA were set to Intellectual disability; Seizures\nReview for gene: NBEA was set to GREEN\ngene: NBEA was marked as current diagnostic\nAdded comment: 24 de novo variants reported in individuals with a neurodevelopmental disorder. \nSources: Expert list",
"entity_name": "NBEA",
"entity_type": "gene"
},
{
"created": "2020-01-24T20:18:46.999910+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.952",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NBEA as ready",
"entity_name": "NBEA",
"entity_type": "gene"
},
{
"created": "2020-01-24T20:18:46.322753+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.952",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nbea has been classified as Green List (High Evidence).",
"entity_name": "NBEA",
"entity_type": "gene"
},
{
"created": "2020-01-24T20:17:52.727857+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.952",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NBEA as Green List (high evidence)",
"entity_name": "NBEA",
"entity_type": "gene"
},
{
"created": "2020-01-24T20:17:52.721063+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.952",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nbea has been classified as Green List (High Evidence).",
"entity_name": "NBEA",
"entity_type": "gene"
},
{
"created": "2020-01-24T20:17:12.524479+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.951",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NBEA was added\ngene: NBEA was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: NBEA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NBEA were set to 30269351; 28554332; 12746398; 12826745; 11450821; 3377648; 23277425; 22109531; 23153818\nPhenotypes for gene: NBEA were set to Intellectual disability; Seizures\nReview for gene: NBEA was set to GREEN\ngene: NBEA was marked as current diagnostic\nAdded comment: 24 de novo variants reported in individuals with a neurodevelopmental disorder \nSources: Expert list",
"entity_name": "NBEA",
"entity_type": "gene"
},
{
"created": "2020-01-24T20:17:11.510459+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NBEA as ready",
"entity_name": "NBEA",
"entity_type": "gene"
},
{
"created": "2020-01-24T20:17:11.501486+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nbea has been classified as Green List (High Evidence).",
"entity_name": "NBEA",
"entity_type": "gene"
},
{
"created": "2020-01-24T20:16:51.066438+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NBEA as Green List (high evidence)",
"entity_name": "NBEA",
"entity_type": "gene"
},
{
"created": "2020-01-24T20:16:51.053779+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nbea has been classified as Green List (High Evidence).",
"entity_name": "NBEA",
"entity_type": "gene"
},
{
"created": "2020-01-24T20:15:18.537048+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NBEA was added\ngene: NBEA was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: NBEA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NBEA were set to 30269351; 28554332; 12746398; 12826745; 11450821; 3377648; 23277425; 22109531; 23153818\nPhenotypes for gene: NBEA were set to Intellectual disability; Seizures\nReview for gene: NBEA was set to GREEN\ngene: NBEA was marked as current diagnostic\nAdded comment: 24 de novo variants reported in individuals with a neurodevelopmental disorder, more than half had epilepsy. \nSources: Expert list",
"entity_name": "NBEA",
"entity_type": "gene"
},
{
"created": "2020-01-24T20:10:19.051168+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NAA10 as ready",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2020-01-24T20:10:19.043433+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: naa10 has been classified as Red List (Low Evidence).",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2020-01-24T20:10:10.416323+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NAA10 were changed from to Microphthalmia, syndromic 1, MIM# 309800",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2020-01-24T20:09:35.970903+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NAA10 were set to ",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2020-01-24T19:58:42.931072+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NAA10 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2020-01-24T18:57:18.536030+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NAA10 as Red List (low evidence)",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2020-01-24T18:57:18.528495+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: naa10 has been classified as Red List (Low Evidence).",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2020-01-24T18:56:46.117347+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NAA10: Rating: RED; Mode of pathogenicity: None; Publications: 11426460; Phenotypes: Microphthalmia, syndromic 1 309800; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2020-01-24T18:53:40.691671+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MTR were changed from Homocystinuria-megaloblastic anemia, cblG complementation type, MIM#250940 to Homocystinuria-megaloblastic anemia, cblG complementation type, MIM#250940",
"entity_name": "MTR",
"entity_type": "gene"
},
{
"created": "2020-01-24T18:53:34.222374+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTR as ready",
"entity_name": "MTR",
"entity_type": "gene"
},
{
"created": "2020-01-24T18:53:34.213721+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtr has been classified as Green List (High Evidence).",
"entity_name": "MTR",
"entity_type": "gene"
},
{
"created": "2020-01-24T18:53:09.886077+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MTR were changed from to Homocystinuria-megaloblastic anemia, cblG complementation type, MIM#250940",
"entity_name": "MTR",
"entity_type": "gene"
},
{
"created": "2020-01-24T18:52:38.440359+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MTR were set to ",
"entity_name": "MTR",
"entity_type": "gene"
},
{
"created": "2020-01-24T18:51:51.968972+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MTR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTR",
"entity_type": "gene"
},
{
"created": "2020-01-24T18:51:26.199376+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "MTR",
"entity_type": "gene"
},
{
"created": "2020-01-24T18:51:09.141174+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: MTR: Seizures are part of the phenotype of this metabolic disorder.",
"entity_name": "MTR",
"entity_type": "gene"
},
{
"created": "2020-01-24T18:49:18.262481+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MTR: Rating: GREEN; Mode of pathogenicity: None; Publications: 25526710, 9683607, 28666289; Phenotypes: Homocystinuria-megaloblastic anemia, cblG complementation type, MIM#250940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTR",
"entity_type": "gene"
},
{
"created": "2020-01-24T18:46:31.162230+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MFSD8 as ready",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2020-01-24T18:46:31.154815+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mfsd8 has been classified as Green List (High Evidence).",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2020-01-24T18:46:21.977977+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MFSD8 as Green List (high evidence)",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2020-01-24T18:46:21.970475+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mfsd8 has been classified as Green List (High Evidence).",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2020-01-24T18:43:58.861486+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MFSD8 was added\ngene: MFSD8 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MFSD8 were set to 30249282; 30144815; 30301600; 28586915\nPhenotypes for gene: MFSD8 were set to Ceroid lipofuscinosis, neuronal, 7 610951\nReview for gene: MFSD8 was set to GREEN\ngene: MFSD8 was marked as current diagnostic\nAdded comment: Seizures are a common feature of this neurodegenerative disorder. \nSources: Expert list",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2020-01-24T18:33:05.565305+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MANBA as ready",
"entity_name": "MANBA",
"entity_type": "gene"
},
{
"created": "2020-01-24T18:33:05.558140+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: manba has been classified as Amber List (Moderate Evidence).",
"entity_name": "MANBA",
"entity_type": "gene"
},
{
"created": "2020-01-24T18:33:03.271232+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MANBA were set to 12468273; 22369051",
"entity_name": "MANBA",
"entity_type": "gene"
},
{
"created": "2020-01-24T18:32:32.576893+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MANBA were set to 12468273; 22369051",
"entity_name": "MANBA",
"entity_type": "gene"
},
{
"created": "2020-01-24T18:31:59.213627+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MANBA were set to ",
"entity_name": "MANBA",
"entity_type": "gene"
},
{
"created": "2020-01-24T18:30:47.304289+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MANBA were changed from to Mannosidosis, beta, MIM#248510",
"entity_name": "MANBA",
"entity_type": "gene"
},
{
"created": "2020-01-24T18:30:09.218478+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MANBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MANBA",
"entity_type": "gene"
},
{
"created": "2020-01-24T18:29:34.421585+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MANBA as Amber List (moderate evidence)",
"entity_name": "MANBA",
"entity_type": "gene"
},
{
"created": "2020-01-24T18:29:34.414222+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: manba has been classified as Amber List (Moderate Evidence).",
"entity_name": "MANBA",
"entity_type": "gene"
},
{
"created": "2020-01-24T18:28:54.888493+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MANBA: Rating: AMBER; Mode of pathogenicity: None; Publications: 12468273, 22369051; Phenotypes: Mannosidosis, beta, MIM#248510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MANBA",
"entity_type": "gene"
},
{
"created": "2020-01-24T17:09:19.441833+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MACF1 as ready",
"entity_name": "MACF1",
"entity_type": "gene"
},
{
"created": "2020-01-24T17:09:19.434900+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: macf1 has been classified as Green List (High Evidence).",
"entity_name": "MACF1",
"entity_type": "gene"
},
{
"created": "2020-01-24T17:09:08.078443+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MACF1 as Green List (high evidence)",
"entity_name": "MACF1",
"entity_type": "gene"
},
{
"created": "2020-01-24T17:09:08.070875+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: macf1 has been classified as Green List (High Evidence).",
"entity_name": "MACF1",
"entity_type": "gene"
},
{
"created": "2020-01-24T17:08:06.781920+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1673",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MACF1 was added\ngene: MACF1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MACF1 were set to 30471716\nPhenotypes for gene: MACF1 were set to Lissencephaly 9 with complex brainstem malformation, MIM#\t618325\nMode of pathogenicity for gene: MACF1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: MACF1 was set to GREEN\nAdded comment: Nine individuals (including a pair of twins) reported with de novo, likely GoF variants in this gene. \nSources: Expert list",
"entity_name": "MACF1",
"entity_type": "gene"
},
{
"created": "2020-01-24T17:07:10.979178+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.950",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MACF1 as Green List (high evidence)",
"entity_name": "MACF1",
"entity_type": "gene"
},
{
"created": "2020-01-24T17:07:10.971192+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.950",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: macf1 has been classified as Green List (High Evidence).",
"entity_name": "MACF1",
"entity_type": "gene"
},
{
"created": "2020-01-24T17:05:47.929583+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.949",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MACF1 was added\ngene: MACF1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MACF1 were set to 30471716\nPhenotypes for gene: MACF1 were set to Lissencephaly 9 with complex brainstem malformation, MIM#\t618325\nMode of pathogenicity for gene: MACF1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: MACF1 was set to GREEN\nAdded comment: Nine individuals (including a pair of twins) reported with de novo variants in this gene. \nSources: Expert list",
"entity_name": "MACF1",
"entity_type": "gene"
},
{
"created": "2020-01-24T17:03:30.961201+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MACF1 as ready",
"entity_name": "MACF1",
"entity_type": "gene"
},
{
"created": "2020-01-24T17:03:30.953202+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: macf1 has been classified as Green List (High Evidence).",
"entity_name": "MACF1",
"entity_type": "gene"
},
{
"created": "2020-01-24T17:03:02.992137+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MACF1 as Green List (high evidence)",
"entity_name": "MACF1",
"entity_type": "gene"
},
{
"created": "2020-01-24T17:03:02.985045+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: macf1 has been classified as Green List (High Evidence).",
"entity_name": "MACF1",
"entity_type": "gene"
},
{
"created": "2020-01-24T17:02:22.136131+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MACF1 as Green List (high evidence)",
"entity_name": "MACF1",
"entity_type": "gene"
},
{
"created": "2020-01-24T17:02:22.129202+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: macf1 has been classified as Green List (High Evidence).",
"entity_name": "MACF1",
"entity_type": "gene"
},
{
"created": "2020-01-24T17:01:26.201572+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MACF1 was added\ngene: MACF1 was added to Lissencephaly and Band Heterotopia. Sources: Expert list\nMode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MACF1 were set to 30471716\nPhenotypes for gene: MACF1 were set to Lissencephaly 9 with complex brainstem malformation, MIM#\t618325\nMode of pathogenicity for gene: MACF1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: MACF1 was set to GREEN\nAdded comment: Nine individuals (including a pair of twins) reported with de novo variants in this gene, seizures a consistent feature. \nSources: Expert list",
"entity_name": "MACF1",
"entity_type": "gene"
},
{
"created": "2020-01-24T16:58:37.412707+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MACF1 as ready",
"entity_name": "MACF1",
"entity_type": "gene"
},
{
"created": "2020-01-24T16:58:37.405700+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: macf1 has been classified as Green List (High Evidence).",
"entity_name": "MACF1",
"entity_type": "gene"
},
{
"created": "2020-01-24T16:58:14.544539+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MACF1 as Green List (high evidence)",
"entity_name": "MACF1",
"entity_type": "gene"
},
{
"created": "2020-01-24T16:58:14.536449+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: macf1 has been classified as Green List (High Evidence).",
"entity_name": "MACF1",
"entity_type": "gene"
},
{
"created": "2020-01-24T16:58:06.668599+11:00",
"panel_name": "Early onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.7",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: PRKN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16476817, PMID: 14519684; Phenotypes: Parkinson disease, juvenile, type 2 600116 AR, Adenocarcinoma of lung, somatic 211980, Ovarian cancer, somatic 167000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRKN",
"entity_type": "gene"
},
{
"created": "2020-01-24T16:57:06.084219+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MACF1 was added\ngene: MACF1 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MACF1 were set to 30471716\nPhenotypes for gene: MACF1 were set to Lissencephaly 9 with complex brainstem malformation, MIM#\t618325\nMode of pathogenicity for gene: MACF1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: MACF1 was set to GREEN\nAdded comment: Nine individuals (including a pair of twins) reported with de novo variants in this gene, seizures a consistent feature. \nSources: Expert list",
"entity_name": "MACF1",
"entity_type": "gene"
},
{
"created": "2020-01-24T16:00:52.056593+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LYST were changed from Chediak-Higashi syndrome, MIM#214500 to Chediak-Higashi syndrome, MIM#214500",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2020-01-24T16:00:41.786877+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LYST as ready",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2020-01-24T16:00:41.774339+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lyst has been classified as Amber List (Moderate Evidence).",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2020-01-24T16:00:20.928725+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LYST were changed from to Chediak-Higashi syndrome, MIM#214500",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2020-01-24T15:59:49.914915+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LYST were set to ",
"entity_name": "LYST",
"entity_type": "gene"
}
]
}