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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1203",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1201",
"results": [
{
"created": "2021-09-23T13:30:01.294818+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SHANK3 as ready",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2021-09-23T13:30:01.283693+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shank3 has been classified as Red List (Low Evidence).",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2021-09-23T13:29:52.287237+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SHANK3 was added\ngene: SHANK3 was added to Cerebral Palsy. Sources: Expert list\nMode of inheritance for gene: SHANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SHANK3 were set to 17173049\nPhenotypes for gene: SHANK3 were set to Phelan-McDermid syndrome, MIM#\t606232\nReview for gene: SHANK3 was set to RED\nAdded comment: Note deletions are common. ID with severe speech impairment/autistic features but movement disorders are not prominent, so limited overlap clinically with CP. \nSources: Expert list",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2021-09-23T12:28:42.869729+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIGN as ready",
"entity_name": "PIGN",
"entity_type": "gene"
},
{
"created": "2021-09-23T12:28:42.859599+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pign has been classified as Green List (High Evidence).",
"entity_name": "PIGN",
"entity_type": "gene"
},
{
"created": "2021-09-23T12:28:38.821690+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIGN as Green List (high evidence)",
"entity_name": "PIGN",
"entity_type": "gene"
},
{
"created": "2021-09-23T12:28:38.811767+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pign has been classified as Green List (High Evidence).",
"entity_name": "PIGN",
"entity_type": "gene"
},
{
"created": "2021-09-23T12:27:50.279626+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCDH19 as ready",
"entity_name": "PCDH19",
"entity_type": "gene"
},
{
"created": "2021-09-23T12:27:50.268848+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcdh19 has been classified as Red List (Low Evidence).",
"entity_name": "PCDH19",
"entity_type": "gene"
},
{
"created": "2021-09-23T12:27:45.167448+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PCDH19 as Red List (low evidence)",
"entity_name": "PCDH19",
"entity_type": "gene"
},
{
"created": "2021-09-23T12:27:45.146621+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcdh19 has been classified as Red List (Low Evidence).",
"entity_name": "PCDH19",
"entity_type": "gene"
},
{
"created": "2021-09-23T12:27:04.016289+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCDH12 as ready",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2021-09-23T12:27:04.004918+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.126",
"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": "2021-09-23T12:26:53.185638+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PCDH12 as Green List (high evidence)",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2021-09-23T12:26:53.176360+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.126",
"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": "2021-09-23T12:26:09.063312+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRIN2B as ready",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2021-09-23T12:26:09.052098+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grin2b has been classified as Green List (High Evidence).",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2021-09-23T12:24:56.994738+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GRIN2B as Green List (high evidence)",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2021-09-23T12:24:56.983949+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grin2b has been classified as Green List (High Evidence).",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2021-09-23T12:24:24.807202+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNAO1 as ready",
"entity_name": "GNAO1",
"entity_type": "gene"
},
{
"created": "2021-09-23T12:24:24.796619+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnao1 has been classified as Green List (High Evidence).",
"entity_name": "GNAO1",
"entity_type": "gene"
},
{
"created": "2021-09-23T12:24:19.563528+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GNAO1 as Green List (high evidence)",
"entity_name": "GNAO1",
"entity_type": "gene"
},
{
"created": "2021-09-23T12:24:19.552561+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnao1 has been classified as Green List (High Evidence).",
"entity_name": "GNAO1",
"entity_type": "gene"
},
{
"created": "2021-09-23T12:23:46.987196+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXG1 as ready",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2021-09-23T12:23:46.974418+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxg1 has been classified as Green List (High Evidence).",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2021-09-23T12:23:44.048810+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FOXG1 as Green List (high evidence)",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2021-09-23T12:23:44.039049+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxg1 has been classified as Green List (High Evidence).",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2021-09-23T12:23:00.424960+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNB1 as ready",
"entity_name": "GNB1",
"entity_type": "gene"
},
{
"created": "2021-09-23T12:23:00.413670+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnb1 has been classified as Green List (High Evidence).",
"entity_name": "GNB1",
"entity_type": "gene"
},
{
"created": "2021-09-23T12:22:53.348654+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GNB1 as Green List (high evidence)",
"entity_name": "GNB1",
"entity_type": "gene"
},
{
"created": "2021-09-23T12:22:53.337793+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnb1 has been classified as Green List (High Evidence).",
"entity_name": "GNB1",
"entity_type": "gene"
},
{
"created": "2021-09-23T11:55:08.261240+10:00",
"panel_name": "Limb and Digital Malformations SuperPanel",
"panel_id": 3730,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added Panel Limb and Digital Malformations SuperPanel\nSet child panels to: Polydactyly; Hand and foot malformations\nSet panel types to: Superpanel; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-09-23T11:51:42.208571+10:00",
"panel_name": "Hand and foot malformations",
"panel_id": 3729,
"panel_version": "0.55",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel name changed from Hand and foot malformation to Hand and foot malformations\nPanel status changed from internal to public",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-09-23T11:50:48.467165+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.54",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: WNT3 as ready",
"entity_name": "WNT3",
"entity_type": "gene"
},
{
"created": "2021-09-23T11:50:48.456647+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.54",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: wnt3 has been classified as Red List (Low Evidence).",
"entity_name": "WNT3",
"entity_type": "gene"
},
{
"created": "2021-09-23T11:50:45.640028+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.54",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: WNT3 were set to ",
"entity_name": "WNT3",
"entity_type": "gene"
},
{
"created": "2021-09-23T11:48:49.163930+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TGDS as ready",
"entity_name": "TGDS",
"entity_type": "gene"
},
{
"created": "2021-09-23T11:48:49.151757+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tgds has been classified as Green List (High Evidence).",
"entity_name": "TGDS",
"entity_type": "gene"
},
{
"created": "2021-09-23T11:48:45.976382+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: TGDS were set to ",
"entity_name": "TGDS",
"entity_type": "gene"
},
{
"created": "2021-09-23T11:48:37.973109+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.52",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TGDS as Green List (high evidence)",
"entity_name": "TGDS",
"entity_type": "gene"
},
{
"created": "2021-09-23T11:48:37.961478+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.52",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tgds has been classified as Green List (High Evidence).",
"entity_name": "TGDS",
"entity_type": "gene"
},
{
"created": "2021-09-23T11:48:29.824820+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.51",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: TGDS: Rating: GREEN; Mode of pathogenicity: None; Publications: 25480037; Phenotypes: Catel-Manzke syndrome MIM#616145; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TGDS",
"entity_type": "gene"
},
{
"created": "2021-09-23T11:45:16.387673+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.51",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SMARCE1 as ready",
"entity_name": "SMARCE1",
"entity_type": "gene"
},
{
"created": "2021-09-23T11:45:16.377355+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.51",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: smarce1 has been classified as Green List (High Evidence).",
"entity_name": "SMARCE1",
"entity_type": "gene"
},
{
"created": "2021-09-23T11:45:13.290723+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.51",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: SMARCE1 were set to ",
"entity_name": "SMARCE1",
"entity_type": "gene"
},
{
"created": "2021-09-23T11:45:01.428394+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.50",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SMARCE1 as Green List (high evidence)",
"entity_name": "SMARCE1",
"entity_type": "gene"
},
{
"created": "2021-09-23T11:45:01.418009+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.50",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: smarce1 has been classified as Green List (High Evidence).",
"entity_name": "SMARCE1",
"entity_type": "gene"
},
{
"created": "2021-09-23T11:44:52.579914+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.49",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: SMARCE1: Set current diagnostic: yes",
"entity_name": "SMARCE1",
"entity_type": "gene"
},
{
"created": "2021-09-23T11:44:43.547088+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.49",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: SMARCE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22426308, 25169878, 34205270; Phenotypes: Coffin-Siris syndrome 5 MIM#616938; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMARCE1",
"entity_type": "gene"
},
{
"created": "2021-09-23T11:43:45.439099+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.121",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "gene: GRIN2B was added\ngene: GRIN2B was added to Cerebral Palsy. Sources: Expert list\nMode of inheritance for gene: GRIN2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GRIN2B were set to 34531397; 33528536\nPhenotypes for gene: GRIN2B were set to Cerebral Palsy; Developmental and epileptic encephalopathy 27 MIM# 616139; Intellectual developmental disorder, autosomal dominant 6, with or without seizures MIM# 613970\nReview for gene: GRIN2B was set to GREEN\nAdded comment: 3 individuals in CP cohort with mono-allelic (2x de novo & 1 unknown inheritance) GRIN2B variants. \r\n\r\nGRIN2B variants cause autosomal dominant neurodevelopmental disorders DEE27 and MRD6 that present with intellectual disability, seizures, hypotonia, movement disorders, and autistic features. \nSources: Expert list",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2021-09-23T11:42:17.232734+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.121",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "gene: GNB1 was added\ngene: GNB1 was added to Cerebral Palsy. Sources: Expert list\nMode of inheritance for gene: GNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GNB1 were set to 33528536; 32989326; 34531397; 30194818\nPhenotypes for gene: GNB1 were set to Cerebral Palsy; Mental retardation, autosomal dominant 42 MIM# 616973\nReview for gene: GNB1 was set to GREEN\nAdded comment: 4 individuals in CP cohort reported with mono-allelic (3x de novo & 1x unknown inheritance) GNB1 variants. All individuals presented with impaired movement (dystonia, spasticity) and ID; additional features were growth delay, ADHD and seizures. \r\n\r\nAdditionally, all individuals had substitution affecting the p.Ile80 residue in exon 6 (28% of MRD42 cases carry variants at this residue and tend to present with Dystonia and growth delay more frequently than other residue-variant cases) \nSources: Expert list",
"entity_name": "GNB1",
"entity_type": "gene"
},
{
"created": "2021-09-23T11:37:27.834414+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.49",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SMARCB1 as ready",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2021-09-23T11:37:27.819015+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.49",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: smarcb1 has been classified as Green List (High Evidence).",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2021-09-23T11:37:22.365708+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.49",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: SMARCB1 were set to ",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2021-09-23T11:37:09.053520+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.48",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SMARCB1 as Green List (high evidence)",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2021-09-23T11:37:09.041614+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.48",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: smarcb1 has been classified as Green List (High Evidence).",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2021-09-23T11:36:59.853996+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.47",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: SMARCB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22426308, 25169878; Phenotypes: Coffin-Siris syndrome 3 MIM#614608; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2021-09-23T11:20:31.006740+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.47",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SMARCA4 as ready",
"entity_name": "SMARCA4",
"entity_type": "gene"
},
{
"created": "2021-09-23T11:20:30.994552+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.47",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: smarca4 has been classified as Green List (High Evidence).",
"entity_name": "SMARCA4",
"entity_type": "gene"
},
{
"created": "2021-09-23T11:20:23.579397+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.47",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: SMARCA4 were set to ",
"entity_name": "SMARCA4",
"entity_type": "gene"
},
{
"created": "2021-09-23T11:20:16.164425+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.46",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SMARCA4 as Green List (high evidence)",
"entity_name": "SMARCA4",
"entity_type": "gene"
},
{
"created": "2021-09-23T11:20:16.154727+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.46",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: smarca4 has been classified as Green List (High Evidence).",
"entity_name": "SMARCA4",
"entity_type": "gene"
},
{
"created": "2021-09-23T11:20:06.777498+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: SMARCA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 22426308; Phenotypes: Coffin-Siris syndrome 4 MIM#614609; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "SMARCA4",
"entity_type": "gene"
},
{
"created": "2021-09-23T11:14:15.707796+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SMARCA2 as ready",
"entity_name": "SMARCA2",
"entity_type": "gene"
},
{
"created": "2021-09-23T11:14:15.695113+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: smarca2 has been classified as Green List (High Evidence).",
"entity_name": "SMARCA2",
"entity_type": "gene"
},
{
"created": "2021-09-23T11:14:11.226797+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: SMARCA2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "SMARCA2",
"entity_type": "gene"
},
{
"created": "2021-09-23T11:14:06.610801+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: SMARCA2 were set to ",
"entity_name": "SMARCA2",
"entity_type": "gene"
},
{
"created": "2021-09-23T11:13:55.117735+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.43",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SMARCA2 as Green List (high evidence)",
"entity_name": "SMARCA2",
"entity_type": "gene"
},
{
"created": "2021-09-23T11:13:55.107167+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.43",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: smarca2 has been classified as Green List (High Evidence).",
"entity_name": "SMARCA2",
"entity_type": "gene"
},
{
"created": "2021-09-23T11:12:41.273724+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.42",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: RAD21 as ready",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2021-09-23T11:12:41.264313+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.42",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rad21 has been classified as Green List (High Evidence).",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2021-09-23T11:12:38.264469+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.42",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RAD21 as Green List (high evidence)",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2021-09-23T11:12:38.253723+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.42",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rad21 has been classified as Green List (High Evidence).",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2021-09-23T11:12:28.580875+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.41",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: RAD21 were set to ",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2021-09-23T11:10:33.913367+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PHF6 as ready",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2021-09-23T11:10:33.897153+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: phf6 has been classified as Green List (High Evidence).",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2021-09-23T11:10:31.721568+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: PHF6 were set to ",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2021-09-23T11:10:24.196411+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.39",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: PHF6 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2021-09-23T11:10:17.425559+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PHF6 as Green List (high evidence)",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2021-09-23T11:10:17.414903+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: phf6 has been classified as Green List (High Evidence).",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2021-09-23T11:10:07.266975+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.37",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: PHF6: Changed rating: GREEN; Set current diagnostic: yes",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2021-09-23T11:09:56.529030+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.37",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: PHF6: Rating: ; Mode of pathogenicity: None; Publications: 19161141, 24092917, 12415272; Phenotypes: Borjeson-Forssman-Lehmann syndrome MIM#301900; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2021-09-23T10:56:00.654039+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.121",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "gene: GNAO1 was added\ngene: GNAO1 was added to Cerebral Palsy. Sources: Expert list\nMode of inheritance for gene: GNAO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GNAO1 were set to 33528536; 34364746; 33098801\nPhenotypes for gene: GNAO1 were set to Cerebral Palsy; Neurodevelopmental disorder with involuntary movements MIM# 617493\nReview for gene: GNAO1 was set to GREEN\nAdded comment: >10 individuals in CP cohort reported with mono-allelic (de novo) GNAO1variants. \r\nThe majority of these individuals were diagnosed with Dyskinetic CP displaying progressive movement disorder (dystonia, athetosis and chorea), ID and often seizures. \nSources: Expert list",
"entity_name": "GNAO1",
"entity_type": "gene"
},
{
"created": "2021-09-23T10:24:54.569845+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.37",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: NXN as ready",
"entity_name": "NXN",
"entity_type": "gene"
},
{
"created": "2021-09-23T10:24:54.559890+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.37",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nxn has been classified as Green List (High Evidence).",
"entity_name": "NXN",
"entity_type": "gene"
},
{
"created": "2021-09-23T10:24:48.785624+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.37",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: NXN were set to ",
"entity_name": "NXN",
"entity_type": "gene"
},
{
"created": "2021-09-23T10:24:41.022001+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.36",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NXN as Green List (high evidence)",
"entity_name": "NXN",
"entity_type": "gene"
},
{
"created": "2021-09-23T10:24:41.011417+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.36",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nxn has been classified as Green List (High Evidence).",
"entity_name": "NXN",
"entity_type": "gene"
},
{
"created": "2021-09-23T10:24:06.768195+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: LTBP2 as ready",
"entity_name": "LTBP2",
"entity_type": "gene"
},
{
"created": "2021-09-23T10:24:06.757070+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ltbp2 has been classified as Red List (Low Evidence).",
"entity_name": "LTBP2",
"entity_type": "gene"
},
{
"created": "2021-09-23T10:24:04.318742+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: LTBP2 were set to ",
"entity_name": "LTBP2",
"entity_type": "gene"
},
{
"created": "2021-09-23T10:23:42.402362+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: LTBP2: Rating: RED; Mode of pathogenicity: None; Publications: 22539340; Phenotypes: Weill-Marchesani syndrome 3, recessive MIM#614819; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LTBP2",
"entity_type": "gene"
},
{
"created": "2021-09-23T10:10:41.892355+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: KMT2A as ready",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2021-09-23T10:10:41.881084+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: kmt2a has been classified as Green List (High Evidence).",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2021-09-23T10:10:37.158086+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: KMT2A were set to ",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2021-09-23T10:10:27.810375+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.33",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: KMT2A as Green List (high evidence)",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2021-09-23T10:10:27.786777+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.33",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: kmt2a has been classified as Green List (High Evidence).",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2021-09-23T10:10:14.672721+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.32",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: KMT2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 22795537, 24886118; Phenotypes: Wiedemann-Steiner syndrome MIM#605130; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2021-09-23T10:03:43.085137+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.32",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: KDM6A as ready",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2021-09-23T10:03:43.075035+10:00",
"panel_name": "Hand and foot malformation",
"panel_id": 3729,
"panel_version": "0.32",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: kdm6a has been classified as Green List (High Evidence).",
"entity_name": "KDM6A",
"entity_type": "gene"
}
]
}