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{
"count": 220377,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2058",
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"results": [
{
"created": "2019-12-09T06:43:33.121406+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.948",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDP1 as ready",
"entity_name": "PDP1",
"entity_type": "gene"
},
{
"created": "2019-12-09T06:43:33.114034+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.948",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdp1 has been classified as Green List (High Evidence).",
"entity_name": "PDP1",
"entity_type": "gene"
},
{
"created": "2019-12-09T06:43:28.006257+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.948",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDP1 were changed from to Pyruvate dehydrogenase phosphatase deficiency, MIM#608782",
"entity_name": "PDP1",
"entity_type": "gene"
},
{
"created": "2019-12-09T06:43:16.463502+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.947",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDP1 were set to ",
"entity_name": "PDP1",
"entity_type": "gene"
},
{
"created": "2019-12-09T06:43:04.497073+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDP1",
"entity_type": "gene"
},
{
"created": "2019-12-09T06:42:50.097990+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.945",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PDP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19184109, 15855260, 31392110; Phenotypes: Pyruvate dehydrogenase phosphatase deficiency, MIM#608782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDP1",
"entity_type": "gene"
},
{
"created": "2019-12-09T06:38:26.349331+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.945",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDHB as ready",
"entity_name": "PDHB",
"entity_type": "gene"
},
{
"created": "2019-12-09T06:38:26.341832+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.945",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdhb has been classified as Green List (High Evidence).",
"entity_name": "PDHB",
"entity_type": "gene"
},
{
"created": "2019-12-09T06:38:22.064505+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.945",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDHB were changed from to Pyruvate dehydrogenase E1-beta deficiency, MIM#614111",
"entity_name": "PDHB",
"entity_type": "gene"
},
{
"created": "2019-12-09T06:38:10.282379+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDHB were set to ",
"entity_name": "PDHB",
"entity_type": "gene"
},
{
"created": "2019-12-09T06:37:54.143211+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PDHB: Rating: GREEN; Mode of pathogenicity: None; Publications: 15138885, 26014431; Phenotypes: Pyruvate dehydrogenase E1-beta deficiency, MIM#614111; Mode of inheritance: None",
"entity_name": "PDHB",
"entity_type": "gene"
},
{
"created": "2019-12-09T06:32:59.727541+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDGFB as ready",
"entity_name": "PDGFB",
"entity_type": "gene"
},
{
"created": "2019-12-09T06:32:59.720102+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdgfb has been classified as Red List (Low Evidence).",
"entity_name": "PDGFB",
"entity_type": "gene"
},
{
"created": "2019-12-09T06:32:55.836109+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDGFB were changed from to Basal ganglia calcification, idiopathic, 5, MIM#615483",
"entity_name": "PDGFB",
"entity_type": "gene"
},
{
"created": "2019-12-09T06:32:44.137318+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.942",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDGFB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDGFB",
"entity_type": "gene"
},
{
"created": "2019-12-09T06:32:32.847323+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.941",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDGFB as Red List (low evidence)",
"entity_name": "PDGFB",
"entity_type": "gene"
},
{
"created": "2019-12-09T06:32:32.836212+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.941",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdgfb has been classified as Red List (Low Evidence).",
"entity_name": "PDGFB",
"entity_type": "gene"
},
{
"created": "2019-12-09T06:32:19.962617+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PDGFB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Basal ganglia calcification, idiopathic, 5, MIM#615483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDGFB",
"entity_type": "gene"
},
{
"created": "2019-12-08T20:10:12.989206+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDE6D as ready",
"entity_name": "PDE6D",
"entity_type": "gene"
},
{
"created": "2019-12-08T20:10:12.981565+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde6d has been classified as Green List (High Evidence).",
"entity_name": "PDE6D",
"entity_type": "gene"
},
{
"created": "2019-12-08T20:10:07.922884+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDE6D were changed from to Joubert syndrome 22, MIM#615665",
"entity_name": "PDE6D",
"entity_type": "gene"
},
{
"created": "2019-12-08T20:09:54.239967+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.939",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDE6D were set to ",
"entity_name": "PDE6D",
"entity_type": "gene"
},
{
"created": "2019-12-08T20:09:42.107163+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.938",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDE6D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDE6D",
"entity_type": "gene"
},
{
"created": "2019-12-08T20:09:27.342054+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.937",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PDE6D: Rating: GREEN; Mode of pathogenicity: None; Publications: 24166846, 30423442; Phenotypes: Joubert syndrome 22, MIM#615665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDE6D",
"entity_type": "gene"
},
{
"created": "2019-12-08T20:04:49.933477+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.937",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDE11A as ready",
"entity_name": "PDE11A",
"entity_type": "gene"
},
{
"created": "2019-12-08T20:04:49.926181+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.937",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde11a has been classified as Red List (Low Evidence).",
"entity_name": "PDE11A",
"entity_type": "gene"
},
{
"created": "2019-12-08T20:04:45.656785+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.937",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDE11A were changed from to Pigmented nodular adrenocortical disease, primary, 2, MIM#610475",
"entity_name": "PDE11A",
"entity_type": "gene"
},
{
"created": "2019-12-08T20:04:35.937718+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.936",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDE11A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDE11A",
"entity_type": "gene"
},
{
"created": "2019-12-08T20:04:29.380411+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.935",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDE11A as Red List (low evidence)",
"entity_name": "PDE11A",
"entity_type": "gene"
},
{
"created": "2019-12-08T20:04:29.372468+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.935",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde11a has been classified as Red List (Low Evidence).",
"entity_name": "PDE11A",
"entity_type": "gene"
},
{
"created": "2019-12-08T20:04:15.904552+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.934",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PDE11A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pigmented nodular adrenocortical disease, primary, 2, MIM#610475; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDE11A",
"entity_type": "gene"
},
{
"created": "2019-12-08T20:00:53.082848+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBX4 as ready",
"entity_name": "TBX4",
"entity_type": "gene"
},
{
"created": "2019-12-08T20:00:53.073636+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx4 has been classified as Green List (High Evidence).",
"entity_name": "TBX4",
"entity_type": "gene"
},
{
"created": "2019-12-08T20:00:44.906075+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBX4 were changed from to Posterior amelia with pelvis and pulmonary hypoplasia; small patella syndrome",
"entity_name": "TBX4",
"entity_type": "gene"
},
{
"created": "2019-12-08T20:00:26.277010+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBX4 were set to ",
"entity_name": "TBX4",
"entity_type": "gene"
},
{
"created": "2019-12-08T20:00:05.587038+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBX4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TBX4",
"entity_type": "gene"
},
{
"created": "2019-12-08T19:59:43.873946+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31761294; Phenotypes: Posterior amelia with pelvis and pulmonary hypoplasia, small patella syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TBX4",
"entity_type": "gene"
},
{
"created": "2019-12-08T19:54:53.775541+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OXR1 as ready",
"entity_name": "OXR1",
"entity_type": "gene"
},
{
"created": "2019-12-08T19:54:53.768026+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oxr1 has been classified as Green List (High Evidence).",
"entity_name": "OXR1",
"entity_type": "gene"
},
{
"created": "2019-12-08T19:54:43.961209+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OXR1 as Green List (high evidence)",
"entity_name": "OXR1",
"entity_type": "gene"
},
{
"created": "2019-12-08T19:54:43.953613+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oxr1 has been classified as Green List (High Evidence).",
"entity_name": "OXR1",
"entity_type": "gene"
},
{
"created": "2019-12-08T19:54:23.994923+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OXR1 was added\ngene: OXR1 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: OXR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OXR1 were set to 31785787\nPhenotypes for gene: OXR1 were set to Intellectual disability; seizures; cerebellar atrophy\nReview for gene: OXR1 was set to GREEN\nAdded comment: Five individuals from three families. \nSources: Literature",
"entity_name": "OXR1",
"entity_type": "gene"
},
{
"created": "2019-12-08T19:51:51.845231+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.934",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OXR1 as ready",
"entity_name": "OXR1",
"entity_type": "gene"
},
{
"created": "2019-12-08T19:51:51.834430+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.934",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oxr1 has been classified as Green List (High Evidence).",
"entity_name": "OXR1",
"entity_type": "gene"
},
{
"created": "2019-12-08T19:51:41.392503+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.934",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OXR1 as Green List (high evidence)",
"entity_name": "OXR1",
"entity_type": "gene"
},
{
"created": "2019-12-08T19:51:41.384707+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.934",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oxr1 has been classified as Green List (High Evidence).",
"entity_name": "OXR1",
"entity_type": "gene"
},
{
"created": "2019-12-08T19:51:26.046200+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.933",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OXR1 was added\ngene: OXR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: OXR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OXR1 were set to 31785787\nPhenotypes for gene: OXR1 were set to Intellectual disability; seizures; cerebellar atrophy\nReview for gene: OXR1 was set to GREEN\nAdded comment: Five individuals from three families. \nSources: Literature",
"entity_name": "OXR1",
"entity_type": "gene"
},
{
"created": "2019-12-08T19:47:27.456594+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMX2 as ready",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2019-12-08T19:47:27.449069+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmx2 has been classified as Green List (High Evidence).",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2019-12-08T19:47:12.378737+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMX2 were changed from to Microcephaly; ID; brain malformations",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2019-12-08T19:46:58.588240+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMX2 were set to ",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2019-12-08T19:46:48.489421+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:59:56.187520+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31735293, 31586943; Phenotypes: Microcephaly, ID, brain malformations; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:59:15.191885+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMX2 as ready",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:59:15.184101+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmx2 has been classified as Green List (High Evidence).",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:59:12.484647+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMX2 were changed from to Microcephaly; ID; brain malformations",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:58:52.785211+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMX2 were set to ",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:58:31.440164+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:58:02.455774+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31735293, 31586943; Phenotypes: Microcephaly, ID, brain malformations; Mode of inheritance: None",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:55:53.565432+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMX2 as ready",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:55:53.557939+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmx2 has been classified as Green List (High Evidence).",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:55:48.653641+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMX2 as Green List (high evidence)",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:55:48.646302+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmx2 has been classified as Green List (High Evidence).",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:55:35.703175+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.931",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMX2 was added\ngene: TMX2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: TMX2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMX2 were set to 31735293; 31586943\nPhenotypes for gene: TMX2 were set to Microcephaly; ID; brain malformations\nReview for gene: TMX2 was set to GREEN\nAdded comment: 14 individuals from 10 unrelated families with bi-allelic variants in this gene (31735293) and another four families with recurrent variant (31586943). \nSources: Literature",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:45:10.225765+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDE10A as ready",
"entity_name": "PDE10A",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:45:10.222490+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Note that allelic disorder, Striatal degeneration, autosomal dominant, MIM#616922, is caused by heterozygous variants and ID is not part of the phenotype.",
"entity_name": "PDE10A",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:45:10.202883+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde10a has been classified as Green List (High Evidence).",
"entity_name": "PDE10A",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:44:34.468977+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDE10A were changed from to Dyskinesia, limb and orofacial, infantile-onset, MIM#616921",
"entity_name": "PDE10A",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:44:22.473604+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.929",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDE10A were set to ",
"entity_name": "PDE10A",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:44:12.943924+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDE10A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDE10A",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:43:25.260697+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PDE10A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27058446; Phenotypes: Dyskinesia, limb and orofacial, infantile-onset, MIM#616921; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDE10A",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:39:57.655232+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCYT2 as ready",
"entity_name": "PCYT2",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:39:57.647410+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcyt2 has been classified as Green List (High Evidence).",
"entity_name": "PCYT2",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:39:52.475719+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PCYT2 as Green List (high evidence)",
"entity_name": "PCYT2",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:39:52.464806+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcyt2 has been classified as Green List (High Evidence).",
"entity_name": "PCYT2",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:39:39.136566+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PCYT2 was added\ngene: PCYT2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert Review\nMode of inheritance for gene: PCYT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCYT2 were set to 31637422\nPhenotypes for gene: PCYT2 were set to Global developmental delay with regression; spastic para- or tetra paresis; epilepsy; progressive cerebral and cerebellar atrophy\nReview for gene: PCYT2 was set to GREEN\nAdded comment: Five unrelated individuals. Variants are hypomorphic. \nSources: Expert Review",
"entity_name": "PCYT2",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:19:18.432575+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.925",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCLO as ready",
"entity_name": "PCLO",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:19:18.425658+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.925",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pclo has been classified as Red List (Low Evidence).",
"entity_name": "PCLO",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:19:12.774725+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.925",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PCLO as Red List (low evidence)",
"entity_name": "PCLO",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:19:12.767793+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.925",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pclo has been classified as Red List (Low Evidence).",
"entity_name": "PCLO",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:18:10.763223+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.924",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PCLO were changed from to Pontocerebellar hypoplasia, type 3, MIM#608027",
"entity_name": "PCLO",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:17:58.970554+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PCLO were set to ",
"entity_name": "PCLO",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:17:49.592123+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PCLO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCLO",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:17:42.295655+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.921",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PCLO as Amber List (moderate evidence)",
"entity_name": "PCLO",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:17:42.287076+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.921",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pclo has been classified as Amber List (Moderate Evidence).",
"entity_name": "PCLO",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:17:06.503949+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.920",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCDH9 as ready",
"entity_name": "PCDH9",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:17:06.496626+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.920",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcdh9 has been classified as Red List (Low Evidence).",
"entity_name": "PCDH9",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:17:01.329874+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.920",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PCDH9 as Red List (low evidence)",
"entity_name": "PCDH9",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:17:01.322004+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.920",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcdh9 has been classified as Red List (Low Evidence).",
"entity_name": "PCDH9",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:16:49.002959+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.919",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PCDH9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "PCDH9",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:14:40.887019+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.919",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCDH15 as ready",
"entity_name": "PCDH15",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:14:40.879738+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.919",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcdh15 has been classified as Red List (Low Evidence).",
"entity_name": "PCDH15",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:14:36.260393+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.919",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PCDH15 were changed from to Deafness, autosomal recessive 23, MIM#609533",
"entity_name": "PCDH15",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:14:24.922358+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PCDH15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCDH15",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:14:17.439693+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PCDH15 as Red List (low evidence)",
"entity_name": "PCDH15",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:14:17.430699+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcdh15 has been classified as Red List (Low Evidence).",
"entity_name": "PCDH15",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:14:03.623853+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PCDH15: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 23, MIM#609533; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCDH15",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:12:25.173891+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCDH12 as ready",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:12:25.165767+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcdh12 has been classified as Green List (High Evidence).",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2019-12-08T18:12:18.851402+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PCDH12 were changed from to Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM#251280",
"entity_name": "PCDH12",
"entity_type": "gene"
}
]
}