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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=323",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=321",
"results": [
{
"created": "2024-12-13T15:21:12.243232+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC9A6 as ready",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2024-12-13T15:21:12.210769+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc9a6 has been classified as Green List (High Evidence).",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2024-12-13T15:21:09.157997+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC9A6 were changed from Mental retardation, X-linked syndromic, Christianson type to Intellectual developmental disorder, X-linked syndromic, Christianson type MIM#300243",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2024-12-13T15:20:52.334539+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.773",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC9A6 were set to ",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2024-12-13T15:19:35.516928+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A22 as ready",
"entity_name": "SLC25A22",
"entity_type": "gene"
},
{
"created": "2024-12-13T15:19:35.502858+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a22 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A22",
"entity_type": "gene"
},
{
"created": "2024-12-13T15:19:28.962723+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC25A22 were changed from Epileptic encephalopathy, early infantile, 3, 609304 (3) to Epileptic encephalopathy, early infantile, 3, MIM#609304",
"entity_name": "SLC25A22",
"entity_type": "gene"
},
{
"created": "2024-12-13T15:19:14.629712+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC25A22 were set to ",
"entity_name": "SLC25A22",
"entity_type": "gene"
},
{
"created": "2024-12-13T15:18:23.443402+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.770",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A15 as ready",
"entity_name": "SLC25A15",
"entity_type": "gene"
},
{
"created": "2024-12-13T15:18:23.428500+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.770",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a15 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A15",
"entity_type": "gene"
},
{
"created": "2024-12-13T15:18:19.722414+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.770",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC25A15 were changed from Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, MIM#238970 to Hyperornithinaemia-hyperammonaemia-homocitrullinemia syndrome, MIM#238970",
"entity_name": "SLC25A15",
"entity_type": "gene"
},
{
"created": "2024-12-13T15:18:05.885803+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC25A15 were changed from Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3) to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, MIM#238970",
"entity_name": "SLC25A15",
"entity_type": "gene"
},
{
"created": "2024-12-13T15:17:50.226083+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.768",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC25A15 were set to ",
"entity_name": "SLC25A15",
"entity_type": "gene"
},
{
"created": "2024-12-13T15:17:22.861329+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.767",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CKAP2L as ready",
"entity_name": "CKAP2L",
"entity_type": "gene"
},
{
"created": "2024-12-13T15:17:22.840721+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.767",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ckap2l has been classified as Green List (High Evidence).",
"entity_name": "CKAP2L",
"entity_type": "gene"
},
{
"created": "2024-12-13T15:17:19.431515+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.767",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CKAP2L were changed from Filippi syndrome, 272440 (3) to Filippi syndrome, MIM#272440",
"entity_name": "CKAP2L",
"entity_type": "gene"
},
{
"created": "2024-12-13T15:17:06.527421+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CKAP2L were set to ",
"entity_name": "CKAP2L",
"entity_type": "gene"
},
{
"created": "2024-12-13T15:16:40.593170+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.765",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHKB as ready",
"entity_name": "CHKB",
"entity_type": "gene"
},
{
"created": "2024-12-13T15:16:40.581825+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.765",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chkb has been classified as Green List (High Evidence).",
"entity_name": "CHKB",
"entity_type": "gene"
},
{
"created": "2024-12-13T15:16:36.410765+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.765",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHKB were changed from Muscular dystrophy, congenital, megaconial type, 602541 (3) to Muscular dystrophy, congenital, megaconial type, MIM#602541",
"entity_name": "CHKB",
"entity_type": "gene"
},
{
"created": "2024-12-13T15:16:19.845982+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHKB were set to ",
"entity_name": "CHKB",
"entity_type": "gene"
},
{
"created": "2024-12-13T15:15:54.150666+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDK5RAP2 as ready",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2024-12-13T15:15:54.138935+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk5rap2 has been classified as Green List (High Evidence).",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2024-12-13T15:15:46.899772+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDK5RAP2 were changed from Microcephaly 3, primary, autosomal recessive, 604804 (3) to Microcephaly 3, primary, autosomal recessive, MIM#604804",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2024-12-13T15:15:32.945247+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDK5RAP2 were set to ",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2024-12-13T15:14:14.344449+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.761",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: TTC7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 28936210, 30553809; Phenotypes: Gastrointestinal defects and immunodeficiency syndrome MIM#243150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTC7A",
"entity_type": "gene"
},
{
"created": "2024-12-13T15:11:14.957002+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.761",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: TSHB: Rating: GREEN; Mode of pathogenicity: None; Publications: 31384098; Phenotypes: Hypothyroidism, congenital, nongoitrous 4 MIM#275100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TSHB",
"entity_type": "gene"
},
{
"created": "2024-12-13T14:20:29.793257+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.761",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: TSEN54: Rating: GREEN; Mode of pathogenicity: None; Publications: 20952379; Phenotypes: Pontocerebellar hypoplasia type 2A (MIM#277470), Pontocerebellar hypoplasia type 4 (MIM#225753), ?Pontocerebellar hypoplasia type 5 (MIM#610204); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2024-12-13T14:13:08.090797+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.761",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "changed review comment from: Gene is red on Mackenzie's mission panel but the review itself is green and says \"Three unrelated families reported with renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly.\" this is refering to 3 families all with homozygous missense, p.Lys65Met, p.Tyr149Cys, and p.Leu136Pro.\r\n\r\nThere has been at least one more individual reported PMID: 38628357: a three-year-old male with developmental delay, regression, microcephaly, distinctive facial features, skeletal abnormalities, and epilepsy. He also had relapsing nephrotic proteinuria exacerbated by upper respiratory tract infections and progressive renal function decline. He was compound heterozygous for p.(Ser76IlefsTer3) and c.247C>T, p.(Leu83Phe).\r\n\r\nSevere early-onset and reported in at least 4 individuals (also green on mendeliome), upgrading to green here.; to: Gene is red on Mackenzie's mission panel but the review itself is green and says \"Three unrelated families reported with renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly.\" this is refering to 3 families all with homozygous missense, p.Lys65Met, p.Tyr149Cys, and p.Leu136Pro (PMIDs: 28805828, 30053862).\r\n\r\nThere has been at least one more individual reported PMID: 38628357: a three-year-old male with developmental delay, regression, microcephaly, distinctive facial features, skeletal abnormalities, and epilepsy. He also had relapsing nephrotic proteinuria exacerbated by upper respiratory tract infections and progressive renal function decline. He was compound heterozygous for p.(Ser76IlefsTer3) and c.247C>T, p.(Leu83Phe).\r\n\r\nSevere early-onset and reported in at least 4 individuals (also green on mendeliome), upgrading to green here.",
"entity_name": "TPRKB",
"entity_type": "gene"
},
{
"created": "2024-12-13T14:12:38.354180+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.761",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: TPRKB: Rating: GREEN; Mode of pathogenicity: None; Publications: 38628357, 28805828, 30053862; Phenotypes: Galloway-Mowat syndrome 5, MIM# 617731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TPRKB",
"entity_type": "gene"
},
{
"created": "2024-12-13T11:55:34.312086+11:00",
"panel_name": "Neurodegeneration with brain iron accumulation",
"panel_id": 3438,
"panel_version": "1.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-12-13T10:42:28.214858+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.761",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: D2HGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 15609246, 16081310, 31349060, 20020533, 38825343; Phenotypes: D-2-hydroxyglutaric aciduria, MIM#600721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "D2HGDH",
"entity_type": "gene"
},
{
"created": "2024-12-13T10:23:11.146427+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.761",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "changed review comment from: Dental anomalies on the AI spectrum are a feature of this primarily renal disorder. Macular coloboma is part of the phenotype.\r\n\r\nVariable age of onset of deafness, progressive, generally in the first decade.\r\n\r\nPMID 27530400 - 9 indiv from 6 families, age at onset of symtpoms ranging from 0-9 years with varying severity of symptoms ranging frrom FTT to polydipsia. Oldest age at CKD diagnosis was 15 years.\r\n\r\nPMID 17033971 - 12 patients affected with hypomagnesemia, renal failure, and severe ocular abnormalities. Age at onset of symptoms was 0-8 years. \r\n\r\nPMID 22422540 - 23 indiv with familial hypomagnesemia with hypercalciuria and nephrocalcinosis, median age at onset 9.5years. CKD was more frequently observed in patients with CLDN19 mutations: survival without CKD or ESRD was 56% at 20 years of age; to: Dental anomalies on the AI spectrum are a feature of this primarily renal disorder. Macular coloboma is part of the phenotype.\r\n\r\nVariable age of onset of deafness, progressive, generally in the first decade.\r\n\r\nPMID 27530400 - 9 indiv from 6 families, age at onset of symtpoms ranging from 0-9 years with varying severity of symptoms ranging frrom FTT to polydipsia. Oldest age at CKD diagnosis was 15 years.\r\n\r\nPMID 17033971 - 12 patients affected with hypomagnesemia, renal failure, and severe ocular abnormalities. Age at onset of symptoms was 0-8 years. \r\n\r\nPMID 22422540 - 23 indiv with familial hypomagnesemia with hypercalciuria and nephrocalcinosis, median age at onset 9.5years. CKD was more frequently observed in patients with CLDN19 mutations: survival without CKD or ESRD was 56% at 20 years of age",
"entity_name": "CLDN19",
"entity_type": "gene"
},
{
"created": "2024-12-13T09:07:52.853675+11:00",
"panel_name": "Homologous_recombination_deficiency_WTS_UMCCR",
"panel_id": 242,
"panel_version": "0.44",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel status changed from public to retired",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-12-13T08:58:49.766125+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "1.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-12-13T08:57:53.478196+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: IPO8 as Green List (high evidence)",
"entity_name": "IPO8",
"entity_type": "gene"
},
{
"created": "2024-12-13T08:57:53.459159+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ipo8 has been classified as Green List (High Evidence).",
"entity_name": "IPO8",
"entity_type": "gene"
},
{
"created": "2024-12-13T08:57:44.477831+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IPO8 was added\ngene: IPO8 was added to Pneumothorax. Sources: Expert list\nMode of inheritance for gene: IPO8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IPO8 were set to 20301312\nPhenotypes for gene: IPO8 were set to Loeys-Dietz syndrome MONDO:0018954\nReview for gene: IPO8 was set to GREEN\ngene: IPO8 was marked as current diagnostic\nAdded comment: Included on this panel because spontaneous pneumothorax can be a feature of LDS. \nSources: Expert list",
"entity_name": "IPO8",
"entity_type": "gene"
},
{
"created": "2024-12-13T08:53:01.336374+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TGFB3 as Green List (high evidence)",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2024-12-13T08:53:01.324647+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Included on this panel because spontaneous pneumothorax can be a feature of LDS.",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2024-12-13T08:53:01.234893+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tgfb3 has been classified as Green List (High Evidence).",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2024-12-13T08:52:45.756339+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: TGFB3 were set to 15591413; 25006744; 25835445; 24577266; 26493799; 23161884",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2024-12-13T08:52:02.860785+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: TGFBR1 were set to 16799921; 15591413; 25006744; 26493799; 23161884",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2024-12-13T08:51:51.257633+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TGFBR1 as Green List (high evidence)",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2024-12-13T08:51:51.252285+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Included on this panel because spontaneous pneumothorax can be a feature of LDS.",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2024-12-13T08:51:51.207466+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tgfbr1 has been classified as Green List (High Evidence).",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2024-12-13T08:51:01.638580+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SMAD3 as ready",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2024-12-13T08:51:01.576646+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: smad3 has been classified as Green List (High Evidence).",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2024-12-13T08:49:39.058549+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: SMAD3 were set to 25006744; 26493799; 15591413; 23161884",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2024-12-13T08:49:28.683451+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SMAD3 as Green List (high evidence)",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2024-12-13T08:49:28.670788+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Included on this panel because spontaneous pneumothorax can be a feature of LDS.",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2024-12-13T08:49:28.586653+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: smad3 has been classified as Green List (High Evidence).",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2024-12-13T08:48:05.397209+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: SMAD2 were set to 29392890; 26247899; 29707331",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2024-12-13T08:47:29.756094+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SMAD2 as Green List (high evidence)",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2024-12-13T08:47:29.747990+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Included on this panel because spontaneous pneumothorax can be a feature of LDS.",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2024-12-13T08:47:29.686150+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: smad2 has been classified as Green List (High Evidence).",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:23:37.484752+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCNO as ready",
"entity_name": "CCNO",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:23:37.472357+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccno has been classified as Green List (High Evidence).",
"entity_name": "CCNO",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:23:33.254737+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCNO were changed from Ciliary diskinesia, primary, 29, 615872 (3) to Ciliary diskinesia, primary, 29, MIM#615872",
"entity_name": "CCNO",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:23:20.244429+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.760",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCNO were set to ",
"entity_name": "CCNO",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:22:49.108555+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CC2D2A as ready",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:22:49.086340+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cc2d2a has been classified as Green List (High Evidence).",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:22:31.494540+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CC2D2A were changed from Joubert syndrome 9, 612285 (3) to COACH syndrome, MIM#216360; Joubert syndrome 9, MIM#612285; Meckel syndrome 6, MIM#612284; Retinitis pigmentosa 93, MIM# 619845",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:22:18.387716+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.758",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CC2D2A were set to ",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:21:55.308352+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.757",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C3 as ready",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:21:55.293967+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.757",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c3 has been classified as Green List (High Evidence).",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:21:51.373912+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.757",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C3 were changed from C3 deficiency, 613779 (3) to C3 deficiency, MIM#613779",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:21:38.960579+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C3 were set to ",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:21:00.840467+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.755",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CENPJ as ready",
"entity_name": "CENPJ",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:21:00.803469+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.755",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cenpj has been classified as Green List (High Evidence).",
"entity_name": "CENPJ",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:20:56.981368+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.755",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CENPJ were changed from Microcephaly 6, primary, autosomal recessive, 608393 (3) to Microcephaly 6, primary MIM#608393; Seckel syndrome 4 MIM#613676",
"entity_name": "CENPJ",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:20:37.793250+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.754",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CENPJ were set to ",
"entity_name": "CENPJ",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:20:11.018510+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDH11 as ready",
"entity_name": "CDH11",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:20:10.992392+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdh11 has been classified as Green List (High Evidence).",
"entity_name": "CDH11",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:20:07.070059+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDH11 were changed from Elsahy-Waters syndrome, 211380 (3), Autosomal recessive to Elsahy-Waters syndrome MIM#211380",
"entity_name": "CDH11",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:19:53.713117+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.752",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDH11 were set to ",
"entity_name": "CDH11",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:19:22.391423+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.751",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBS7 as ready",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:19:22.370159+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.751",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbs7 has been classified as Green List (High Evidence).",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:19:13.272137+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.751",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BBS7 were changed from Bardet-Biedl syndrome 7, 615984 (3) to Bardet-Biedl syndrome 7, MIM# 615984; MONDO:0014435",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:19:00.172960+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.750",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BBS7 were set to ",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:18:33.172780+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.749",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC24A5 as ready",
"entity_name": "SLC24A5",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:18:33.147963+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.749",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc24a5 has been classified as Green List (High Evidence).",
"entity_name": "SLC24A5",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:18:29.049251+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.749",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC24A5 were changed from Albinism, oculocutaneous, type VI, 113750 (3) to Albinism, oculocutaneous, type VI, MIM#113750",
"entity_name": "SLC24A5",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:18:17.504745+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.748",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC24A5 were set to ",
"entity_name": "SLC24A5",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:17:38.253645+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC22A5 as ready",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:17:38.237708+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc22a5 has been classified as Green List (High Evidence).",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:17:34.987749+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC22A5 were changed from Carnitine deficiency, systemic primary, 212140 (3) to Carnitine deficiency, systemic primary, MIM# 212140, MONDO:0008919",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:17:19.683519+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.746",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC22A5 were set to ",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:16:53.506361+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.745",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC16A1 as ready",
"entity_name": "SLC16A1",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:16:53.490539+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.745",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc16a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC16A1",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:16:50.464894+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.745",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC16A1 were changed from Monocarboxylate transporter 1 deficiency, 616095 (3) to Monocarboxylate transporter 1 deficiency, MIM#616095",
"entity_name": "SLC16A1",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:16:30.549796+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.744",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC16A1 were set to ",
"entity_name": "SLC16A1",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:16:00.518521+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SH2D1A as ready",
"entity_name": "SH2D1A",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:16:00.504182+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sh2d1a has been classified as Green List (High Evidence).",
"entity_name": "SH2D1A",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:15:47.465558+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SH2D1A were set to ",
"entity_name": "SH2D1A",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:15:23.527607+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.742",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SGSH as ready",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:15:23.512923+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.742",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sgsh has been classified as Green List (High Evidence).",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:15:17.734718+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.742",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SGSH were changed from Mucopolysaccharidisis type IIIA (Sanfilippo A), 252900 (3) to Mucopolysaccharidisis type IIIA (Sanfilippo A), MIM#252900",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:15:03.167974+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.741",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SGSH were set to ",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2024-12-12T20:14:35.973168+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.740",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCO2 as ready",
"entity_name": "SCO2",
"entity_type": "gene"
}
]
}