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{
"count": 220423,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=784",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=782",
"results": [
{
"created": "2022-08-10T14:22:54.970052+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL3A1 were changed from to Ehlers-Danlos syndrome, vascular type, MIM# 130050; Polymicrogyria with or without vascular-type EDS, MIM# 618343",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2022-08-10T14:22:27.255646+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL3A1 were set to ",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2022-08-10T14:21:52.144482+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL3A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2022-08-10T14:21:27.383686+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag cardiac tag was added to gene: COL3A1.",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2022-08-10T14:21:03.492042+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28742248, 19455184, 25205403; Phenotypes: Ehlers-Danlos syndrome, vascular type, MIM# 130050, Polymicrogyria with or without vascular-type EDS, MIM# 618343; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2022-08-10T14:18:59.325542+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag cardiac tag was added to gene: BGN.",
"entity_name": "BGN",
"entity_type": "gene"
},
{
"created": "2022-08-10T14:18:34.111278+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BGN as ready",
"entity_name": "BGN",
"entity_type": "gene"
},
{
"created": "2022-08-10T14:18:34.098102+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bgn has been classified as Green List (High Evidence).",
"entity_name": "BGN",
"entity_type": "gene"
},
{
"created": "2022-08-10T14:08:56.033741+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BGN were changed from to Meester-Loeys syndrome, MIM# 300989; Spondyloepimetaphyseal dysplasia, X-linked, MIM# 300106",
"entity_name": "BGN",
"entity_type": "gene"
},
{
"created": "2022-08-10T14:08:32.031863+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BGN were set to ",
"entity_name": "BGN",
"entity_type": "gene"
},
{
"created": "2022-08-10T14:07:04.172389+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BGN was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "BGN",
"entity_type": "gene"
},
{
"created": "2022-08-10T14:06:15.813844+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BGN: Changed rating: GREEN; Changed phenotypes: Meester-Loeys syndrome, MIM# 300989, Spondyloepimetaphyseal dysplasia, X-linked, MIM# 300106; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "BGN",
"entity_type": "gene"
},
{
"created": "2022-08-10T14:03:51.720206+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTA2 as ready",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2022-08-10T14:03:51.711759+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acta2 has been classified as Green List (High Evidence).",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2022-08-10T14:03:48.560465+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag cardiac tag was added to gene: ACTA2.",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2022-08-10T14:03:40.338733+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACTA2 were changed from to Aortic aneurysm, familial thoracic 6, MIM# 611788; Multisystemic smooth muscle dysfunction syndrome, MIM# 613834",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2022-08-10T14:02:26.054000+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACTA2 were set to ",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2022-08-10T14:01:40.932662+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACTA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2022-08-10T14:01:14.530482+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACTA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30724374; Phenotypes: Aortic aneurysm, familial thoracic 6, MIM# 611788, Multisystemic smooth muscle dysfunction syndrome, MIM# 613834; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2022-08-09T08:33:05.369528+10:00",
"panel_name": "Vascular Malformations SuperPanel",
"panel_id": 3731,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Superpanel; Royal Melbourne Hospital",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-08-09T08:32:39.072665+10:00",
"panel_name": "Tremors_Superpanel",
"panel_id": 3531,
"panel_version": "1.204",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Superpanel; Royal Melbourne Hospital",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-08-09T08:32:01.167482+10:00",
"panel_name": "Malformations of cortical development_Superpanel",
"panel_id": 3136,
"panel_version": "4.31",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Superpanel; Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-08-09T08:31:34.160943+10:00",
"panel_name": "Retinal Disorders Superpanel",
"panel_id": 3124,
"panel_version": "6.130",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Superpanel; Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-08-09T08:30:21.992811+10:00",
"panel_name": "Myopathy Superpanel",
"panel_id": 3101,
"panel_version": "1.119",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Royal Melbourne Hospital; Rare Disease; Victorian Clinical Genetics Services; Superpanel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-08-08T16:08:34.018788+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4873",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "gene: SPTBN5 was added\ngene: SPTBN5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SPTBN5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SPTBN5 were set to 35782384\nPhenotypes for gene: SPTBN5 were set to Neurodevelopmental disorder, MONDO:0700092, SPTBN5-related\nReview for gene: SPTBN5 was set to GREEN\ngene: SPTBN5 was marked as current diagnostic\nAdded comment: - Four probands from unrelated families (1x Pakistani and 3x Italian) with de novo heterozygous SPTBN5 variants\r\n- 3x missense variants and 1x LoF variant were reported\r\n- Phenotypes include intellectual disability (mild to severe), aggressive tendencies and variable features such as craniofacial and physical dysmorphisms, autistic behavior, and\r\ngastroesophageal reflux \nSources: Literature",
"entity_name": "SPTBN5",
"entity_type": "gene"
},
{
"created": "2022-08-08T08:27:52.952221+10:00",
"panel_name": "Progressive Neurological Conditions",
"panel_id": 3377,
"panel_version": "7.1361",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Superpanel; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-08-05T16:39:47.611212+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CPS1 were changed from to Carbamoylphosphate synthetase I deficiency MIM#237300",
"entity_name": "CPS1",
"entity_type": "gene"
},
{
"created": "2022-08-05T16:38:58.359346+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CPS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CPS1",
"entity_type": "gene"
},
{
"created": "2022-08-05T16:38:36.181460+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CPS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Pulmonary hypertension, neonatal, susceptibility to} 615371; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CPS1",
"entity_type": "gene"
},
{
"created": "2022-08-05T13:59:42.703048+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OTULIN were changed from Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099 to Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099; Susceptibility to infection with Staphylococcus aureus; Hereditary predisposition to infections, MONDO:0015979, OTULIN-related",
"entity_name": "OTULIN",
"entity_type": "gene"
},
{
"created": "2022-08-05T13:59:16.315144+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OTULIN were set to 27523608; 27559085",
"entity_name": "OTULIN",
"entity_type": "gene"
},
{
"created": "2022-08-05T13:58:49.257249+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OTULIN was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "OTULIN",
"entity_type": "gene"
},
{
"created": "2022-08-05T13:58:30.883097+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Autoinflammatory disorder presenting in the newborn period with recurrent fever, erythematous rash with painful nodules, painful joints, diarrhoea and lipodystrophy.; to: Bi-allelic variants: Autoinflammatory disorder presenting in the newborn period with recurrent fever, erythematous rash with painful nodules, painful joints, diarrhoea and lipodystrophy.",
"entity_name": "OTULIN",
"entity_type": "gene"
},
{
"created": "2022-08-05T13:58:14.357989+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: OTULIN: Added comment: PMID 35587511: Multiple individuals reported with haploinsufficiency of OTULIN and severe staphylococcal disease, with life-threatening skin or pulmonary necrosis. Functional data.; Changed publications: 27523608, 27559085, 35587511; Changed phenotypes: Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099, Susceptibility to infection with Staphylococcus aureus, Hereditary predisposition to infections, MONDO:0015979, OTULIN-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "OTULIN",
"entity_type": "gene"
},
{
"created": "2022-08-05T13:57:02.636151+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OTULIN as ready",
"entity_name": "OTULIN",
"entity_type": "gene"
},
{
"created": "2022-08-05T13:57:02.616235+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: otulin has been classified as Green List (High Evidence).",
"entity_name": "OTULIN",
"entity_type": "gene"
},
{
"created": "2022-08-05T13:56:54.219802+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OTULIN as Green List (high evidence)",
"entity_name": "OTULIN",
"entity_type": "gene"
},
{
"created": "2022-08-05T13:56:54.208320+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: otulin has been classified as Green List (High Evidence).",
"entity_name": "OTULIN",
"entity_type": "gene"
},
{
"created": "2022-08-05T13:55:55.691484+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OTULIN was added\ngene: OTULIN was added to Phagocyte Defects. Sources: Literature\nMode of inheritance for gene: OTULIN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: OTULIN were set to 35587511\nPhenotypes for gene: OTULIN were set to Susceptibility to infection with Staphylococcus aureus; Hereditary predisposition to infections, MONDO:0015979, OTULIN-related\nReview for gene: OTULIN was set to GREEN\nAdded comment: Multiple individuals reported with haploinsufficiency of OTULIN and severe staphylococcal disease, with life-threatening skin or pulmonary necrosis. Functional data.\r\n\r\nNote bi-allelic variants case early-onset autoinflammatory condition called OTULIN-related autoinflammatory syndrome (ORAS). \nSources: Literature",
"entity_name": "OTULIN",
"entity_type": "gene"
},
{
"created": "2022-08-04T18:34:07.826708+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NOX1 was added\ngene: NOX1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NOX1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: NOX1 were set to 29091079; 32064493\nPhenotypes for gene: NOX1 were set to Inflammatory bowel disease, MONDO:0005265, NOX1-related\nReview for gene: NOX1 was set to AMBER\nAdded comment: 8 IBD patients with early onset of IBD with progressive and severe colonic disease, refractory to conventional therapy and functional studies suggesting variant-dependent loss of NOX1-mediated superoxide generation. However, high frequency of nonsynonymous mutations in NOX1 suggests that NOX1 is not a highly penetrant Mendelian disorder and that other genetic modifiers or environmental factors may contribute to disease pathogenesis.\r\n\r\nThe variant reported in PMID 32064493 is present in 6 hets in gnomad. \nSources: Literature",
"entity_name": "NOX1",
"entity_type": "gene"
},
{
"created": "2022-08-04T18:32:30.823857+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NOX1 as ready",
"entity_name": "NOX1",
"entity_type": "gene"
},
{
"created": "2022-08-04T18:32:30.804000+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nox1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NOX1",
"entity_type": "gene"
},
{
"created": "2022-08-04T18:32:10.608393+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NOX1 were changed from Inflammatory bowel disease to Inflammatory bowel disease, MONDO:0005265, NOX1-related",
"entity_name": "NOX1",
"entity_type": "gene"
},
{
"created": "2022-08-04T18:31:35.536660+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NOX1: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NOX1",
"entity_type": "gene"
},
{
"created": "2022-08-04T18:31:26.048276+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NOX1 as Amber List (moderate evidence)",
"entity_name": "NOX1",
"entity_type": "gene"
},
{
"created": "2022-08-04T18:31:26.040566+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nox1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NOX1",
"entity_type": "gene"
},
{
"created": "2022-08-04T18:31:09.493544+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NOX1 as Amber List (moderate evidence)",
"entity_name": "NOX1",
"entity_type": "gene"
},
{
"created": "2022-08-04T18:31:09.482967+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nox1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NOX1",
"entity_type": "gene"
},
{
"created": "2022-08-04T18:29:09.640173+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NOX1: Rating: AMBER; Mode of pathogenicity: None; Publications: 32064493; Phenotypes: Inflammatory bowel disease, MONDO:0005265, NOX1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NOX1",
"entity_type": "gene"
},
{
"created": "2022-08-04T18:23:47.135768+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BICD2 were changed from Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290; MONDO:0014121; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291 to Neurodevelopmental disorder (MONDO#0700092), BICD2-related; Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290; MONDO:0014121; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2022-08-04T18:23:02.395829+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BICD2 were set to 23664116; 23664119; 23664120; 27751653; 28635954; 30054298; 29528393",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2022-08-04T18:22:21.457654+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BICD2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2022-08-04T18:20:38.561118+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4873",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PSMC1 as ready",
"entity_name": "PSMC1",
"entity_type": "gene"
},
{
"created": "2022-08-04T18:20:38.551250+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4873",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psmc1 has been classified as Red List (Low Evidence).",
"entity_name": "PSMC1",
"entity_type": "gene"
},
{
"created": "2022-08-04T18:19:53.464454+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4873",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PSMC1 as Red List (low evidence)",
"entity_name": "PSMC1",
"entity_type": "gene"
},
{
"created": "2022-08-04T18:19:53.449570+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4873",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psmc1 has been classified as Red List (Low Evidence).",
"entity_name": "PSMC1",
"entity_type": "gene"
},
{
"created": "2022-08-04T18:17:33.750701+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4872",
"user_name": "Hazel Phillimore",
"item_type": "entity",
"text": "gene: PSMC1 was added\ngene: PSMC1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PSMC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PSMC1 were set to PMID: 35861243\nPhenotypes for gene: PSMC1 were set to spastic paraplegia; severe developmental delay; severe intellectual disability; hearing loss; micropenis; undescended testes; Syndromic disease MONDO:0002254, PSMC1-related\nReview for gene: PSMC1 was set to RED\nAdded comment: Homozygosity mapping on one large consanguineous Bedouin kindred showed three affected children (out of the ten) to be homozygous for NM_002802.3:c.983T>C; p.(Ile328Thr).\r\n\r\nDrosophila rescue experiments were carried out. Transgenic studies using drosophila with the silenced ortholog Rpt2 gene were rescued by the human wild-type PSMC1.\r\n\r\nThree of the ten offspring of healthy consanguineous parents of Bedouin Israeli ancestry were affected with a similar phenotype of failure to thrive, developmental delay and severe intellectual disability, spastic tetraplegia with central hypotonia, chorea, as well as hearing loss. None of the three achieved verbal communication or ambulation (sitting / standing) at any age. They had mild dysmorphism of borderline dolichocephaly and microcephaly, prominent bushy eyebrows, flat midface, long nasal bridge and micrognathia. All three had micropenis with undescended testes. One of the affected (as a toddler) underwent thorough endocrinological analysis: testosterone and gonadotropin levels were low. \nSources: Literature",
"entity_name": "PSMC1",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:11:12.473056+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.28",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: KIF15 as ready",
"entity_name": "KIF15",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:11:12.461546+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.28",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: kif15 has been classified as Red List (Low Evidence).",
"entity_name": "KIF15",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:11:09.200749+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.28",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: KIF15 were changed from ?Braddock-Carey syndrome 2 - MIM#619981 to Braddock-Carey syndrome 2 - MIM#619981",
"entity_name": "KIF15",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:10:42.019788+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.27",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: KIF15 as Red List (low evidence)",
"entity_name": "KIF15",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:10:42.008700+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.27",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: kif15 has been classified as Red List (Low Evidence).",
"entity_name": "KIF15",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:09:54.659763+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.15",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: KIF15 as ready",
"entity_name": "KIF15",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:09:54.639719+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.15",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: kif15 has been classified as Red List (Low Evidence).",
"entity_name": "KIF15",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:09:49.792705+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.15",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: KIF15 were changed from ?Braddock-Carey syndrome 2 - MIM#619981 to Braddock-Carey syndrome 2 - MIM#619981",
"entity_name": "KIF15",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:09:27.175715+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.14",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: KIF15 as Red List (low evidence)",
"entity_name": "KIF15",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:09:27.166525+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.14",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: kif15 has been classified as Red List (Low Evidence).",
"entity_name": "KIF15",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:08:56.317161+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SARS as Green List (high evidence)",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:08:56.309683+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sars has been classified as Green List (High Evidence).",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:08:24.598250+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.146",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: KIF15 as ready",
"entity_name": "KIF15",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:08:24.586825+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.146",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: kif15 has been classified as Red List (Low Evidence).",
"entity_name": "KIF15",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:08:23.733737+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.146",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: KIF15 were changed from ?Braddock-Carey syndrome 2 - MIM#619981 to Braddock-Carey syndrome 2 - MIM#619981",
"entity_name": "KIF15",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:08:02.216647+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.145",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: KIF15 as Red List (low evidence)",
"entity_name": "KIF15",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:08:02.197555+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.145",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: kif15 has been classified as Red List (Low Evidence).",
"entity_name": "KIF15",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:07:22.722710+10:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.43",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: KIF15 as ready",
"entity_name": "KIF15",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:07:22.714983+10:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.43",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: kif15 has been classified as Red List (Low Evidence).",
"entity_name": "KIF15",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:07:02.807404+10:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.43",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: KIF15 were changed from ?Braddock-Carey syndrome 2 - MIM#619981 to Braddock-Carey syndrome 2 - MIM#619981",
"entity_name": "KIF15",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:06:42.007805+10:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.42",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: KIF15 as Red List (low evidence)",
"entity_name": "KIF15",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:06:41.992350+10:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.42",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: kif15 has been classified as Red List (Low Evidence).",
"entity_name": "KIF15",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:05:55.816694+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.224",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: KIF15 were changed from ?Braddock-Carey syndrome 2 - MIM#619981 to Braddock-Carey syndrome 2 - MIM#619981",
"entity_name": "KIF15",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:05:30.108230+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.223",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: KIF15 as ready",
"entity_name": "KIF15",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:05:30.095491+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.223",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: kif15 has been classified as Red List (Low Evidence).",
"entity_name": "KIF15",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:05:22.224003+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.223",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: KIF15 as Red List (low evidence)",
"entity_name": "KIF15",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:05:22.209515+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.223",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: kif15 has been classified as Red List (Low Evidence).",
"entity_name": "KIF15",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:04:55.589211+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4872",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: SARS were changed from Intellectual disability to neurodevelopmental disorder MONDO#070009, SARS1-related",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:04:27.244592+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4872",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: SARS were set to 28236339; 34570399",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:04:11.845505+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.142",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: SARS was added\ngene: SARS was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: SARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SARS were set to 35790048; 28236339; 34570399\nPhenotypes for gene: SARS were set to neurodevelopmental disorder MONDO#070009, SARS1-related\nReview for gene: SARS was set to GREEN\ngene: SARS was marked as current diagnostic\nAdded comment: Total of 3 families \nSources: Literature",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:03:58.219636+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.142",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: SARS as ready",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:03:58.210975+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.142",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: sars has been classified as Red List (Low Evidence).",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:03:38.501911+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4872",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: SARS as Green List (high evidence)",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:03:38.490905+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4872",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: sars has been classified as Green List (High Evidence).",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:03:14.437385+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.142",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: SARS was added\ngene: SARS was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: SARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SARS were set to 35790048; 28236339; 34570399\nPhenotypes for gene: SARS were set to neurodevelopmental disorder MONDO#070009, SARS1-related\nReview for gene: SARS was set to GREEN\ngene: SARS was marked as current diagnostic\nAdded comment: Total of 3 families \nSources: Literature",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:03:08.141726+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.222",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: SARS were set to 28236339; 34570399",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:02:58.131092+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.222",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: SARS as Green List (high evidence)",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:02:58.122922+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.222",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: sars has been classified as Green List (High Evidence).",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:02:55.104394+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.222",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: SARS were changed from Intellectual disability to neurodevelopmental disorder MONDO#070009, SARS1-related",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:02:39.651501+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.274",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: WARS as ready",
"entity_name": "WARS",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:02:39.640238+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.274",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: wars has been classified as Green List (High Evidence).",
"entity_name": "WARS",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:02:28.925519+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.274",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: WARS as Green List (high evidence)",
"entity_name": "WARS",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:02:28.915090+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.274",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: wars has been classified as Green List (High Evidence).",
"entity_name": "WARS",
"entity_type": "gene"
}
]
}