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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1791",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1789",
"results": [
{
"created": "2020-05-24T20:37:23.766076+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: erbb2 has been classified as Red List (Low Evidence).",
"entity_name": "ERBB2",
"entity_type": "gene"
},
{
"created": "2020-05-24T20:37:20.605335+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ERBB2 as Red List (low evidence)",
"entity_name": "ERBB2",
"entity_type": "gene"
},
{
"created": "2020-05-24T20:37:20.590710+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: erbb2 has been classified as Red List (Low Evidence).",
"entity_name": "ERBB2",
"entity_type": "gene"
},
{
"created": "2020-05-24T20:36:50.445158+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERBB2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ERBB2",
"entity_type": "gene"
},
{
"created": "2020-05-24T20:33:41.554764+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BCR as ready",
"entity_name": "BCR",
"entity_type": "gene"
},
{
"created": "2020-05-24T20:33:41.538363+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bcr has been classified as Red List (Low Evidence).",
"entity_name": "BCR",
"entity_type": "gene"
},
{
"created": "2020-05-24T20:33:31.575185+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BCR were changed from to Leukemia, acute lymphocytic, Philadelphia chromosome positive, somatic 613065; Leukemia, chronic myeloid, Philadelphia chromosome positive, somatic 608232",
"entity_name": "BCR",
"entity_type": "gene"
},
{
"created": "2020-05-24T20:33:07.269384+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2884",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BCR as Red List (low evidence)",
"entity_name": "BCR",
"entity_type": "gene"
},
{
"created": "2020-05-24T20:33:07.258312+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2884",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bcr has been classified as Red List (Low Evidence).",
"entity_name": "BCR",
"entity_type": "gene"
},
{
"created": "2020-05-24T20:32:44.084406+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BCR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukemia, acute lymphocytic, Philadelphia chromosome positive, somatic 613065, Leukemia, chronic myeloid, Philadelphia chromosome positive, somatic 608232; Mode of inheritance: None",
"entity_name": "BCR",
"entity_type": "gene"
},
{
"created": "2020-05-24T15:36:31.725634+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP19 as ready",
"entity_name": "CEP19",
"entity_type": "gene"
},
{
"created": "2020-05-24T15:36:31.716416+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep19 has been classified as Red List (Low Evidence).",
"entity_name": "CEP19",
"entity_type": "gene"
},
{
"created": "2020-05-24T15:36:22.817775+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEP19 was added\ngene: CEP19 was added to Ciliopathies. Sources: Literature\nMode of inheritance for gene: CEP19 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP19 were set to 29127258; 24268657\nPhenotypes for gene: CEP19 were set to Bardet-Biedl syndorme\nReview for gene: CEP19 was set to RED\nAdded comment: Single family with BBS phenotype reported with a homozygous predicted loss of function variant. Has been reported in another family with a morbid obesity syndrome. \nSources: Literature",
"entity_name": "CEP19",
"entity_type": "gene"
},
{
"created": "2020-05-24T14:35:29.038379+10:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP19 as ready",
"entity_name": "CEP19",
"entity_type": "gene"
},
{
"created": "2020-05-24T14:35:29.028780+10:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep19 has been classified as Red List (Low Evidence).",
"entity_name": "CEP19",
"entity_type": "gene"
},
{
"created": "2020-05-24T12:07:07.716017+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2883",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CEP19 as Amber List (moderate evidence)",
"entity_name": "CEP19",
"entity_type": "gene"
},
{
"created": "2020-05-24T12:07:07.704482+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2883",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cep19 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CEP19",
"entity_type": "gene"
},
{
"created": "2020-05-24T12:06:39.202353+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2882",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CEP19 was added\ngene: CEP19 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CEP19 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP19 were set to 29127258; 24268657\nPhenotypes for gene: CEP19 were set to Morbid obesity and spermatogenic failure MIM#615703\nReview for gene: CEP19 was set to AMBER\nAdded comment: A consanguineous Arab family with morbid obesity and infertility with a homozygous predicted null variant, and a mouse model that recapitulates the phenotype. Another homozygous variant has been identified in a consanguineous Bardet Beidl syndrome. \nSources: Literature",
"entity_name": "CEP19",
"entity_type": "gene"
},
{
"created": "2020-05-24T11:56:49.350846+10:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "0.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CEP19 was added\ngene: CEP19 was added to Bardet Biedl syndrome. Sources: Expert list\nMode of inheritance for gene: CEP19 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP19 were set to 29127258; 24268657\nPhenotypes for gene: CEP19 were set to Bardet Biedl syndrome\nReview for gene: CEP19 was set to RED\nAdded comment: Single family with BBS phenotype reported with a homozygous predicted loss of function variant. Has been reported in another family with a morbid obesity syndrome. \nSources: Expert list",
"entity_name": "CEP19",
"entity_type": "gene"
},
{
"created": "2020-05-23T18:12:34.547854+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2881",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DALRD3 as ready",
"entity_name": "DALRD3",
"entity_type": "gene"
},
{
"created": "2020-05-23T18:12:34.534595+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2881",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dalrd3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DALRD3",
"entity_type": "gene"
},
{
"created": "2020-05-23T18:12:26.304018+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2881",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DALRD3 as Amber List (moderate evidence)",
"entity_name": "DALRD3",
"entity_type": "gene"
},
{
"created": "2020-05-23T18:12:26.295544+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2881",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dalrd3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DALRD3",
"entity_type": "gene"
},
{
"created": "2020-05-23T18:12:08.452318+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2880",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DALRD3 was added\ngene: DALRD3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DALRD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DALRD3 were set to 32427860\nPhenotypes for gene: DALRD3 were set to Epileptic encephalopathy\nReview for gene: DALRD3 was set to AMBER\nAdded comment: Two individuals reported with same homozygous nonsense variant, functional data. \nSources: Literature",
"entity_name": "DALRD3",
"entity_type": "gene"
},
{
"created": "2020-05-23T18:10:27.245028+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.713",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DALRD3 as ready",
"entity_name": "DALRD3",
"entity_type": "gene"
},
{
"created": "2020-05-23T18:10:27.229604+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.713",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dalrd3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DALRD3",
"entity_type": "gene"
},
{
"created": "2020-05-23T18:10:22.732334+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.713",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DALRD3 as Amber List (moderate evidence)",
"entity_name": "DALRD3",
"entity_type": "gene"
},
{
"created": "2020-05-23T18:10:22.723721+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.713",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dalrd3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DALRD3",
"entity_type": "gene"
},
{
"created": "2020-05-23T18:09:46.211060+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.712",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DALRD3 was added\ngene: DALRD3 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: DALRD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DALRD3 were set to 32427860\nPhenotypes for gene: DALRD3 were set to Epileptic encephalopathy\nReview for gene: DALRD3 was set to AMBER\nAdded comment: Two individuals reported with same homozygous nonsense variant, functional data. \nSources: Literature",
"entity_name": "DALRD3",
"entity_type": "gene"
},
{
"created": "2020-05-22T20:35:41.308947+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2879",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GDF3 as ready",
"entity_name": "GDF3",
"entity_type": "gene"
},
{
"created": "2020-05-22T20:35:41.297508+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2879",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gdf3 has been classified as Red List (Low Evidence).",
"entity_name": "GDF3",
"entity_type": "gene"
},
{
"created": "2020-05-22T20:35:31.340471+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2879",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GDF3 were changed from to Microphthalmia with coloboma 6, MIM# 613703; Microphthalmia, isolated 7, MIM# 613704",
"entity_name": "GDF3",
"entity_type": "gene"
},
{
"created": "2020-05-22T20:35:03.194203+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2878",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GDF3 were set to ",
"entity_name": "GDF3",
"entity_type": "gene"
},
{
"created": "2020-05-22T20:34:40.452169+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2877",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GDF3 as Red List (low evidence)",
"entity_name": "GDF3",
"entity_type": "gene"
},
{
"created": "2020-05-22T20:34:40.439843+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2877",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gdf3 has been classified as Red List (Low Evidence).",
"entity_name": "GDF3",
"entity_type": "gene"
},
{
"created": "2020-05-22T20:34:03.533579+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GDF3: Rating: RED; Mode of pathogenicity: None; Publications: 19864492; Phenotypes: Microphthalmia with coloboma 6 613703, Microphthalmia, isolated 7 613704; Mode of inheritance: None",
"entity_name": "GDF3",
"entity_type": "gene"
},
{
"created": "2020-05-22T20:27:21.745144+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAX6 as ready",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2020-05-22T20:27:21.736787+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pax6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2020-05-22T20:27:18.971742+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAX6 were changed from to ?Coloboma of optic nerve MIM# 120430; ?Coloboma, ocular MIM# 120200; ?Morning glory disc anomaly MIM# 120430; Aniridia MIM# 106210; Anterior segment dysgenesis 5, multiple subtypes MIM# 604229; Cataract with late-onset corneal dystrophy MIM# 106210; Foveal hypoplasia 1 MIM# 136520; Keratitis MIM# 148190; Optic nerve hypoplasia MIM# 165550",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2020-05-22T20:26:49.377868+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PAX6 were set to ",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2020-05-22T20:26:20.739178+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PAX6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2020-05-22T20:25:53.405590+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PAX6 as Amber List (moderate evidence)",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2020-05-22T20:25:53.394917+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pax6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2020-05-22T20:25:00.662444+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VSX2 as ready",
"entity_name": "VSX2",
"entity_type": "gene"
},
{
"created": "2020-05-22T20:25:00.653840+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vsx2 has been classified as Red List (Low Evidence).",
"entity_name": "VSX2",
"entity_type": "gene"
},
{
"created": "2020-05-22T20:24:21.106029+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: USP45 as ready",
"entity_name": "USP45",
"entity_type": "gene"
},
{
"created": "2020-05-22T20:24:21.097175+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: usp45 has been classified as Green List (High Evidence).",
"entity_name": "USP45",
"entity_type": "gene"
},
{
"created": "2020-05-22T20:23:11.899582+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NHEJ1 as ready",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2020-05-22T20:23:11.888122+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nhej1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2020-05-22T20:23:08.443612+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NHEJ1 were changed from to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation (MIM# 611291)",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2020-05-22T20:22:40.408475+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NHEJ1 were set to ",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2020-05-22T20:22:11.779600+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NHEJ1 as Amber List (moderate evidence)",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2020-05-22T20:22:11.768764+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nhej1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2020-05-22T20:21:05.659339+10:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TEAD1 as ready",
"entity_name": "TEAD1",
"entity_type": "gene"
},
{
"created": "2020-05-22T20:21:05.650588+10:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tead1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TEAD1",
"entity_type": "gene"
},
{
"created": "2020-05-22T20:20:30.603142+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAMA2 as ready",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2020-05-22T20:20:30.593908+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lama2 has been classified as Green List (High Evidence).",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2020-05-22T20:02:32.217359+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LAMA2 were changed from to LAMA2-related muscular dystrophy",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2020-05-22T20:02:03.320022+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LAMA2 were set to ",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2020-05-22T20:01:39.768050+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LAMA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2020-05-22T20:00:34.451234+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KRAS as ready",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2020-05-22T20:00:34.437841+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kras has been classified as Green List (High Evidence).",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2020-05-22T20:00:07.729038+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KRAS were changed from to Cardiofaciocutaneous syndrome 2 615278; Noonan syndrome 3 609942; RAS-associated autoimmune leukoproliferative disorder 614470; Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic 163200",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:57:56.687974+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2875",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KRAS were set to ",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:57:35.400619+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2874",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: KRAS was changed from to Other",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:57:16.576914+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2873",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KRAS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:55:22.924738+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC6A6 as ready",
"entity_name": "SLC6A6",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:55:22.915900+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc6a6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC6A6",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:54:40.193334+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2872",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GAA as ready",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:54:40.184858+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2872",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gaa has been classified as Green List (High Evidence).",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:54:28.350502+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2872",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GAA were changed from to Glycogen storage disease II, MIM# 232300",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:54:01.769198+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GAA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:53:17.391878+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HEXA as ready",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:53:17.380920+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hexa has been classified as Green List (High Evidence).",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:53:05.117843+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HEXA were changed from to GM2-gangliosidosis, several forms 272800; Tay-Sachs disease 272800",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:52:35.831402+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2869",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HEXA were set to ",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:52:12.991195+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2868",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HEXA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:51:38.445673+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.711",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHX30 as ready",
"entity_name": "DHX30",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:51:38.436353+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.711",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhx30 has been classified as Green List (High Evidence).",
"entity_name": "DHX30",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:51:35.550740+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.711",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DHX30 were changed from to Neurodevelopmental disorder with severe motor impairment and absent language, MIM#617804",
"entity_name": "DHX30",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:51:04.825591+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.710",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DHX30 were set to ",
"entity_name": "DHX30",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:50:35.187311+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.709",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DHX30 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DHX30",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:49:58.091497+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.708",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DHX30: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100085; Phenotypes: Neurodevelopmental disorder with severe motor impairment and absent language, MIM#617804; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DHX30",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:49:05.113312+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2649",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHX30 as ready",
"entity_name": "DHX30",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:49:05.103757+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2649",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhx30 has been classified as Green List (High Evidence).",
"entity_name": "DHX30",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:49:00.414838+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2649",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DHX30 were changed from to Neurodevelopmental disorder with severe motor impairment and absent language, MIM#617804",
"entity_name": "DHX30",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:48:25.184352+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DHX30 were set to ",
"entity_name": "DHX30",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:47:50.847336+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DHX30 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DHX30",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:47:10.920641+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DHX30: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100085; Phenotypes: Neurodevelopmental disorder with severe motor impairment and absent language, MIM#617804; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DHX30",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:45:43.993597+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHX30 as ready",
"entity_name": "DHX30",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:45:43.988424+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Twelve unrelated individuals reported with de novo missense variants, some recurrent.",
"entity_name": "DHX30",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:45:43.950407+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhx30 has been classified as Green List (High Evidence).",
"entity_name": "DHX30",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:44:26.477626+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DHX30 were changed from to Neurodevelopmental disorder with severe motor impairment and absent language, 617804",
"entity_name": "DHX30",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:44:06.047801+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DHX30 were set to ",
"entity_name": "DHX30",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:43:34.009885+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2865",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DHX30 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DHX30",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:43:00.192948+10:00",
"panel_name": "Foveal Hypoplasia",
"panel_id": 3150,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAX6 as ready",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:43:00.180032+10:00",
"panel_name": "Foveal Hypoplasia",
"panel_id": 3150,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pax6 has been classified as Green List (High Evidence).",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:42:29.673711+10:00",
"panel_name": "Foveal Hypoplasia",
"panel_id": 3150,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC38A8 as ready",
"entity_name": "SLC38A8",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:42:29.661832+10:00",
"panel_name": "Foveal Hypoplasia",
"panel_id": 3150,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc38a8 has been classified as Green List (High Evidence).",
"entity_name": "SLC38A8",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:41:08.715605+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAT1 as ready",
"entity_name": "FAT1",
"entity_type": "gene"
}
]
}