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{
"count": 220842,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1967",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1965",
"results": [
{
"created": "2020-01-24T14:53:07.313185+11:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.42",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atp13a3 has been classified as Red List (Low Evidence).",
"entity_name": "ATP13A3",
"entity_type": "gene"
},
{
"created": "2020-01-24T14:52:18.864850+11:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.41",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: AQP1 as Red List (low evidence)",
"entity_name": "AQP1",
"entity_type": "gene"
},
{
"created": "2020-01-24T14:52:18.861649+11:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.41",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Moved to pulmonary arterial hypertension panel",
"entity_name": "AQP1",
"entity_type": "gene"
},
{
"created": "2020-01-24T14:52:18.829539+11:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.41",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: aqp1 has been classified as Red List (Low Evidence).",
"entity_name": "AQP1",
"entity_type": "gene"
},
{
"created": "2020-01-24T12:51:04.063174+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KMT2E as ready",
"entity_name": "KMT2E",
"entity_type": "gene"
},
{
"created": "2020-01-24T12:51:04.055356+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt2e has been classified as Green List (High Evidence).",
"entity_name": "KMT2E",
"entity_type": "gene"
},
{
"created": "2020-01-24T12:50:56.654581+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KMT2E as Green List (high evidence)",
"entity_name": "KMT2E",
"entity_type": "gene"
},
{
"created": "2020-01-24T12:50:56.647146+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt2e has been classified as Green List (High Evidence).",
"entity_name": "KMT2E",
"entity_type": "gene"
},
{
"created": "2020-01-24T12:49:25.944936+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KMT2E was added\ngene: KMT2E was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: KMT2E was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KMT2E were set to 31079897\nPhenotypes for gene: KMT2E were set to Intellectual disability; Autism; Seizures\nReview for gene: KMT2E was set to GREEN\ngene: KMT2E was marked as current diagnostic\nAdded comment: Thirty individuals reported with this neurodevelopmental syndrome, substantial proportion had seizures. \nSources: Expert list",
"entity_name": "KMT2E",
"entity_type": "gene"
},
{
"created": "2020-01-24T12:46:33.531582+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF1BP were changed from Goldberg-Shprintzen megacolon syndrome, MIM# 609460 to Goldberg-Shprintzen megacolon syndrome, MIM# 609460",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2020-01-24T12:46:11.940370+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF1BP as ready",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2020-01-24T12:46:11.149792+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif1bp has been classified as Amber List (Moderate Evidence).",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2020-01-24T12:46:03.541922+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIF1BP were set to 28277559",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2020-01-24T12:45:32.799877+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF1BP were changed from to Goldberg-Shprintzen megacolon syndrome, MIM# 609460",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2020-01-24T12:45:02.700436+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIF1BP were set to ",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2020-01-24T12:44:32.383611+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIF1BP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2020-01-24T12:43:56.501574+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIF1BP as Amber List (moderate evidence)",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2020-01-24T12:43:56.492191+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif1bp has been classified as Amber List (Moderate Evidence).",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2020-01-24T12:43:15.294346+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KIF1BP: Rating: AMBER; Mode of pathogenicity: None; Publications: 28277559; Phenotypes: Goldberg-Shprintzen megacolon syndrome, MIM# 609460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2020-01-24T12:37:26.703969+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.947",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KATNB1 as ready",
"entity_name": "KATNB1",
"entity_type": "gene"
},
{
"created": "2020-01-24T12:37:26.696577+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.947",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: katnb1 has been classified as Green List (High Evidence).",
"entity_name": "KATNB1",
"entity_type": "gene"
},
{
"created": "2020-01-24T12:36:51.496421+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.947",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KATNB1 were changed from to Lissencephaly 6, with microcephaly, MIM#\t616212",
"entity_name": "KATNB1",
"entity_type": "gene"
},
{
"created": "2020-01-24T12:36:36.432171+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KATNB1 were set to ",
"entity_name": "KATNB1",
"entity_type": "gene"
},
{
"created": "2020-01-24T12:36:20.882182+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.945",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KATNB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KATNB1",
"entity_type": "gene"
},
{
"created": "2020-01-24T12:28:00.287270+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NLGN4X as ready",
"entity_name": "NLGN4X",
"entity_type": "gene"
},
{
"created": "2020-01-24T12:28:00.280148+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nlgn4x has been classified as Red List (Low Evidence).",
"entity_name": "NLGN4X",
"entity_type": "gene"
},
{
"created": "2020-01-24T12:27:32.117621+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NLGN4X were changed from to Mental retardation, X-linked, MIM# 300495",
"entity_name": "NLGN4X",
"entity_type": "gene"
},
{
"created": "2020-01-24T12:27:15.756861+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NLGN4X were set to ",
"entity_name": "NLGN4X",
"entity_type": "gene"
},
{
"created": "2020-01-24T12:14:30.726799+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.942",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NLGN4X was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NLGN4X",
"entity_type": "gene"
},
{
"created": "2020-01-24T12:14:10.217635+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.941",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NLGN4X as Red List (low evidence)",
"entity_name": "NLGN4X",
"entity_type": "gene"
},
{
"created": "2020-01-24T12:14:10.210486+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.941",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nlgn4x has been classified as Red List (Low Evidence).",
"entity_name": "NLGN4X",
"entity_type": "gene"
},
{
"created": "2020-01-24T12:13:51.153245+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NLGN4X: Rating: RED; Mode of pathogenicity: None; Publications: 12669065, 18231125, 10071191, 29428674; Phenotypes: Mental retardation, X-linked, MIM# 300495; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NLGN4X",
"entity_type": "gene"
},
{
"created": "2020-01-24T12:12:21.569110+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HNRNPK as ready",
"entity_name": "HNRNPK",
"entity_type": "gene"
},
{
"created": "2020-01-24T12:12:21.561375+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnrnpk has been classified as Green List (High Evidence).",
"entity_name": "HNRNPK",
"entity_type": "gene"
},
{
"created": "2020-01-24T12:12:08.080461+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1671",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NLGN4X as ready",
"entity_name": "NLGN4X",
"entity_type": "gene"
},
{
"created": "2020-01-24T12:12:08.069965+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1671",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nlgn4x has been classified as Red List (Low Evidence).",
"entity_name": "NLGN4X",
"entity_type": "gene"
},
{
"created": "2020-01-24T12:11:03.839327+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1671",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NLGN4X were changed from to Mental retardation, X-linked, MIM# 300495",
"entity_name": "NLGN4X",
"entity_type": "gene"
},
{
"created": "2020-01-24T12:08:54.964017+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NLGN4X were set to ",
"entity_name": "NLGN4X",
"entity_type": "gene"
},
{
"created": "2020-01-24T12:08:35.354675+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HNRNPK were changed from to Au-Kline syndrome, MIM#\t616580",
"entity_name": "HNRNPK",
"entity_type": "gene"
},
{
"created": "2020-01-24T12:07:24.836319+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1669",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NLGN4X was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NLGN4X",
"entity_type": "gene"
},
{
"created": "2020-01-24T12:06:47.838656+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1668",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NLGN4X as Red List (low evidence)",
"entity_name": "NLGN4X",
"entity_type": "gene"
},
{
"created": "2020-01-24T12:06:47.816232+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1668",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nlgn4x has been classified as Red List (Low Evidence).",
"entity_name": "NLGN4X",
"entity_type": "gene"
},
{
"created": "2020-01-24T12:06:04.100384+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NLGN4X: Rating: RED; Mode of pathogenicity: None; Publications: 12669065, 18231125, 10071191, 29428674; Phenotypes: Mental retardation, X-linked, MIM# 300495; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NLGN4X",
"entity_type": "gene"
},
{
"created": "2020-01-24T11:39:40.813644+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.107",
"user_name": "Sue White",
"item_type": "entity",
"text": "Classified gene: HNRNPK as Green List (high evidence)",
"entity_name": "HNRNPK",
"entity_type": "gene"
},
{
"created": "2020-01-24T11:39:40.805913+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.107",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: hnrnpk has been classified as Green List (High Evidence).",
"entity_name": "HNRNPK",
"entity_type": "gene"
},
{
"created": "2020-01-24T11:31:22.734412+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.106",
"user_name": "Sue White",
"item_type": "entity",
"text": "edited their review of gene: HNRNPK: Set current diagnostic: yes",
"entity_name": "HNRNPK",
"entity_type": "gene"
},
{
"created": "2020-01-24T11:30:18.872845+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.106",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: HNRNPK was added\ngene: HNRNPK was added to Hydrops fetalis. Sources: Other\nMode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPenetrance for gene: HNRNPK were set to Complete\nReview for gene: HNRNPK was set to GREEN\nAdded comment: case presentation of patient and literature review shows patients can present with hydrops \nSources: Other",
"entity_name": "HNRNPK",
"entity_type": "gene"
},
{
"created": "2020-01-24T11:04:54.167425+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KATNB1 as ready",
"entity_name": "KATNB1",
"entity_type": "gene"
},
{
"created": "2020-01-24T11:04:54.152502+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: katnb1 has been classified as Green List (High Evidence).",
"entity_name": "KATNB1",
"entity_type": "gene"
},
{
"created": "2020-01-24T11:04:22.918810+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KATNB1 as Green List (high evidence)",
"entity_name": "KATNB1",
"entity_type": "gene"
},
{
"created": "2020-01-24T11:04:22.911565+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: katnb1 has been classified as Green List (High Evidence).",
"entity_name": "KATNB1",
"entity_type": "gene"
},
{
"created": "2020-01-24T11:02:42.585024+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1666",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KATNB1 was added\ngene: KATNB1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: KATNB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KATNB1 were set to 25521378; 25521379; 26640080\nPhenotypes for gene: KATNB1 were set to Lissencephaly 6, with microcephaly, MIM#\t616212\nReview for gene: KATNB1 was set to GREEN\nAdded comment: At least 9 families reported with bi-allelic variants in this gene. \nSources: Expert list",
"entity_name": "KATNB1",
"entity_type": "gene"
},
{
"created": "2020-01-24T10:56:37.007147+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KATNB1 as Green List (high evidence)",
"entity_name": "KATNB1",
"entity_type": "gene"
},
{
"created": "2020-01-24T10:56:36.999252+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: katnb1 has been classified as Green List (High Evidence).",
"entity_name": "KATNB1",
"entity_type": "gene"
},
{
"created": "2020-01-24T10:54:56.160583+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KATNB1 was added\ngene: KATNB1 was added to Lissencephaly and Band Heterotopia. Sources: Expert list\nMode of inheritance for gene: KATNB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KATNB1 were set to 25521378; 25521379; 26640080\nPhenotypes for gene: KATNB1 were set to Lissencephaly 6, with microcephaly, MIM#\t616212\nReview for gene: KATNB1 was set to GREEN\nAdded comment: At least 9 families reported with bi-allelic variants in this gene. \nSources: Expert list",
"entity_name": "KATNB1",
"entity_type": "gene"
},
{
"created": "2020-01-24T10:50:46.212165+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ISPD as ready",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2020-01-24T10:50:46.204405+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ispd has been classified as Amber List (Moderate Evidence).",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2020-01-24T10:50:40.186417+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ISPD were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM#614643 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM#614643",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2020-01-24T10:50:07.620660+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ISPD were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM#614643",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2020-01-24T10:49:34.851299+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ISPD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2020-01-24T10:49:00.977950+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ISPD as Amber List (moderate evidence)",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2020-01-24T10:49:00.969606+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ispd has been classified as Amber List (Moderate Evidence).",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2020-01-24T10:48:18.612915+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ISPD: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM#614643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2020-01-24T10:41:46.144644+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HPRT1 as ready",
"entity_name": "HPRT1",
"entity_type": "gene"
},
{
"created": "2020-01-24T10:41:46.135660+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hprt1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HPRT1",
"entity_type": "gene"
},
{
"created": "2020-01-24T10:41:38.914899+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HPRT1 were changed from Lesch-Nyhan syndrome to Lesch-Nyhan syndrome",
"entity_name": "HPRT1",
"entity_type": "gene"
},
{
"created": "2020-01-24T10:41:04.461759+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HPRT1 were changed from to Lesch-Nyhan syndrome",
"entity_name": "HPRT1",
"entity_type": "gene"
},
{
"created": "2020-01-24T10:40:24.871840+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HPRT1 were set to ",
"entity_name": "HPRT1",
"entity_type": "gene"
},
{
"created": "2020-01-24T10:39:48.920851+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HPRT1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "HPRT1",
"entity_type": "gene"
},
{
"created": "2020-01-24T10:39:13.919814+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.315",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HPRT1 as Amber List (moderate evidence)",
"entity_name": "HPRT1",
"entity_type": "gene"
},
{
"created": "2020-01-24T10:39:13.912857+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.315",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hprt1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HPRT1",
"entity_type": "gene"
},
{
"created": "2020-01-24T10:38:40.420463+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HPRT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27858372; Phenotypes: Lesch-Nyhan syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "HPRT1",
"entity_type": "gene"
},
{
"created": "2020-01-24T10:37:10.631215+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HOXA1 were changed from Bosley-Salih-Alorainy syndrome, MIM#601536 and Athabaskan brainstem dysgenesis syndrome, MIM#601536 to Bosley-Salih-Alorainy syndrome, MIM#601536 and Athabaskan brainstem dysgenesis syndrome, MIM#601536",
"entity_name": "HOXA1",
"entity_type": "gene"
},
{
"created": "2020-01-24T10:37:07.576093+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HOXA1 as ready",
"entity_name": "HOXA1",
"entity_type": "gene"
},
{
"created": "2020-01-24T10:37:07.567332+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hoxa1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HOXA1",
"entity_type": "gene"
},
{
"created": "2020-01-24T10:36:39.985305+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HOXA1 were changed from to Bosley-Salih-Alorainy syndrome, MIM#601536 and Athabaskan brainstem dysgenesis syndrome, MIM#601536",
"entity_name": "HOXA1",
"entity_type": "gene"
},
{
"created": "2020-01-24T10:36:09.412606+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HOXA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HOXA1",
"entity_type": "gene"
},
{
"created": "2020-01-24T10:35:33.909887+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HOXA1 as Amber List (moderate evidence)",
"entity_name": "HOXA1",
"entity_type": "gene"
},
{
"created": "2020-01-24T10:35:33.902407+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hoxa1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HOXA1",
"entity_type": "gene"
},
{
"created": "2020-01-24T10:34:45.975166+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HOXA1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Bosley-Salih-Alorainy syndrome, MIM#601536 and Athabaskan brainstem dysgenesis syndrome, MIM#601536; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HOXA1",
"entity_type": "gene"
},
{
"created": "2020-01-23T22:18:15.724082+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HNRNPR as ready",
"entity_name": "HNRNPR",
"entity_type": "gene"
},
{
"created": "2020-01-23T22:18:15.716944+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnrnpr has been classified as Green List (High Evidence).",
"entity_name": "HNRNPR",
"entity_type": "gene"
},
{
"created": "2020-01-23T22:17:53.002721+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HNRNPR as Green List (high evidence)",
"entity_name": "HNRNPR",
"entity_type": "gene"
},
{
"created": "2020-01-23T22:17:52.995884+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnrnpr has been classified as Green List (High Evidence).",
"entity_name": "HNRNPR",
"entity_type": "gene"
},
{
"created": "2020-01-23T22:17:33.905456+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.939",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HNRNPR was added\ngene: HNRNPR was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: HNRNPR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HNRNPR were set to 26795593; 31079900\nPhenotypes for gene: HNRNPR were set to Intellectual disability; seizures\nReview for gene: HNRNPR was set to GREEN\ngene: HNRNPR was marked as current diagnostic\nAdded comment: Five unrelated individuals reported with de novo variants and a neurodevelopmental disorder. \nSources: Expert list",
"entity_name": "HNRNPR",
"entity_type": "gene"
},
{
"created": "2020-01-23T22:16:20.524476+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HNRNPR as ready",
"entity_name": "HNRNPR",
"entity_type": "gene"
},
{
"created": "2020-01-23T22:16:20.517402+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnrnpr has been classified as Green List (High Evidence).",
"entity_name": "HNRNPR",
"entity_type": "gene"
},
{
"created": "2020-01-23T22:15:25.661204+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HNRNPR as Green List (high evidence)",
"entity_name": "HNRNPR",
"entity_type": "gene"
},
{
"created": "2020-01-23T22:15:25.653102+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnrnpr has been classified as Green List (High Evidence).",
"entity_name": "HNRNPR",
"entity_type": "gene"
},
{
"created": "2020-01-23T22:14:28.147417+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HNRNPR was added\ngene: HNRNPR was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: HNRNPR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HNRNPR were set to 26795593; 31079900\nPhenotypes for gene: HNRNPR were set to Intellectual disability; seizures\nReview for gene: HNRNPR was set to GREEN\ngene: HNRNPR was marked as current diagnostic\nAdded comment: Five unrelated individuals reported with de novo variants and a neurodevelopmental disorder. \nSources: Expert list",
"entity_name": "HNRNPR",
"entity_type": "gene"
},
{
"created": "2020-01-23T22:11:49.879674+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HCN2 were changed from to Genetic epilepsy with febrile seizures plus; Other seizure disorders",
"entity_name": "HCN2",
"entity_type": "gene"
},
{
"created": "2020-01-23T22:08:57.310123+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HCN2 were set to ",
"entity_name": "HCN2",
"entity_type": "gene"
},
{
"created": "2020-01-23T22:08:24.596929+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HCCS were changed from Linear skin defects with multiple congenital anomalies 1, 309801 to Linear skin defects with multiple congenital anomalies 1, 309801",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2020-01-23T22:08:09.504509+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HCCS as ready",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2020-01-23T22:08:09.496268+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hccs has been classified as Amber List (Moderate Evidence).",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2020-01-23T22:07:53.305854+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HCCS were changed from to Linear skin defects with multiple congenital anomalies 1, 309801",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2020-01-23T22:07:22.487477+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HCN2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HCN2",
"entity_type": "gene"
},
{
"created": "2020-01-23T22:06:52.383007+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HCCS were set to ",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2020-01-23T22:06:22.302193+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GTPBP3 were changed from Combined oxidative phosphorylation deficiency 23, MIM#616198 to Combined oxidative phosphorylation deficiency 23, MIM#616198",
"entity_name": "GTPBP3",
"entity_type": "gene"
},
{
"created": "2020-01-23T22:06:05.599708+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GTPBP3 as ready",
"entity_name": "GTPBP3",
"entity_type": "gene"
}
]
}