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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1800",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1798",
"results": [
{
"created": "2020-05-14T11:58:54.832783+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MUC1 as Red List (low evidence)",
"entity_name": "MUC1",
"entity_type": "gene"
},
{
"created": "2020-05-14T11:58:54.824182+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: muc1 has been classified as Red List (Low Evidence).",
"entity_name": "MUC1",
"entity_type": "gene"
},
{
"created": "2020-05-14T11:53:24.719010+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C2CD3 as ready",
"entity_name": "C2CD3",
"entity_type": "gene"
},
{
"created": "2020-05-14T11:53:24.710463+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c2cd3 has been classified as Green List (High Evidence).",
"entity_name": "C2CD3",
"entity_type": "gene"
},
{
"created": "2020-05-14T11:53:20.557768+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C2CD3 as Green List (high evidence)",
"entity_name": "C2CD3",
"entity_type": "gene"
},
{
"created": "2020-05-14T11:53:20.545943+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c2cd3 has been classified as Green List (High Evidence).",
"entity_name": "C2CD3",
"entity_type": "gene"
},
{
"created": "2020-05-14T11:51:45.978006+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LRRC56 as ready",
"entity_name": "LRRC56",
"entity_type": "gene"
},
{
"created": "2020-05-14T11:51:45.963771+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrrc56 has been classified as Green List (High Evidence).",
"entity_name": "LRRC56",
"entity_type": "gene"
},
{
"created": "2020-05-14T11:51:39.789447+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LRRC56 as Green List (high evidence)",
"entity_name": "LRRC56",
"entity_type": "gene"
},
{
"created": "2020-05-14T11:51:39.778178+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrrc56 has been classified as Green List (High Evidence).",
"entity_name": "LRRC56",
"entity_type": "gene"
},
{
"created": "2020-05-14T11:50:55.914993+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LRRC56 as ready",
"entity_name": "LRRC56",
"entity_type": "gene"
},
{
"created": "2020-05-14T11:50:55.899880+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrrc56 has been classified as Green List (High Evidence).",
"entity_name": "LRRC56",
"entity_type": "gene"
},
{
"created": "2020-05-14T11:50:45.457570+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LRRC56 as Green List (high evidence)",
"entity_name": "LRRC56",
"entity_type": "gene"
},
{
"created": "2020-05-14T11:50:45.446514+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrrc56 has been classified as Green List (High Evidence).",
"entity_name": "LRRC56",
"entity_type": "gene"
},
{
"created": "2020-05-14T11:50:23.620684+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2814",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LRRC56: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 39, MIM# 618254; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LRRC56",
"entity_type": "gene"
},
{
"created": "2020-05-14T11:48:53.970887+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2637",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IQSEC3 were changed from Intellectual disability to Intellectual disability; Fetal akinesia",
"entity_name": "IQSEC3",
"entity_type": "gene"
},
{
"created": "2020-05-14T11:48:07.872039+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IQSEC3 were set to 31130284",
"entity_name": "IQSEC3",
"entity_type": "gene"
},
{
"created": "2020-05-14T11:46:49.412395+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIAA0586 as ready",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2020-05-14T11:46:49.399884+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa0586 has been classified as Green List (High Evidence).",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2020-05-14T11:46:45.374165+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIAA0586 as Green List (high evidence)",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2020-05-14T11:46:45.364878+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa0586 has been classified as Green List (High Evidence).",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2020-05-13T15:54:12.187764+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2814",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: NDP: Rating: GREEN; Mode of pathogenicity: None; Publications: 23444378, 8268931, 17325173, 27217716, 29181528, 31827910; Phenotypes: Exudative vitreoretinopathy 2, X-linked, MIM 305390, Norrie disease, MIM 310600; Mode of inheritance: Other",
"entity_name": "NDP",
"entity_type": "gene"
},
{
"created": "2020-05-13T14:59:51.176711+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.48",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: SCLT1 was added\ngene: SCLT1 was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert list\nMode of inheritance for gene: SCLT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCLT1 were set to PMID: 24285566; 32253632; 30425282\nPhenotypes for gene: SCLT1 were set to Orofaciodigital syndrome type IX; Senior-Loken syndrome\nReview for gene: SCLT1 was set to AMBER\nAdded comment: PMID: 24285566 - 1 patient with a homozygous splice variant, proven to result in a fs and NMD protein. MRI results show agenesis of corpus callosum and pachygyria - no mention of cerebellar hypoplasia or MTS. Additional features include coloboma and cleft lip/palate\r\n\r\nPMID: 32253632 - 2 unrelated patients with Bardet-Biedl syndrome. Both patients were chet for the same variants (missense), one found to have splice consequences. Neither patient had polydactyly, but both had ID and renal dysfunction.\r\n\r\nPMID: 30425282 - 1 patient (chet splice/splice) with Senior Løken syndrome. Patient had renal dysfunction, mild ID but no MRI performed. Authors suggest biallelic null LOF variants are more severe.\r\n\r\nSummary: no JS patients but a clear relationship to similar ciliopathies. Potentially needs adding to the BBS gene list. \nSources: Expert list",
"entity_name": "SCLT1",
"entity_type": "gene"
},
{
"created": "2020-05-13T14:42:38.331750+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.48",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: POC1B was added\ngene: POC1B was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert list\nMode of inheritance for gene: POC1B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POC1B were set to PMID: 25044745; 31390656; 25018096\nPhenotypes for gene: POC1B were set to Cone-rod dystrophy 20\t615973\nReview for gene: POC1B was set to RED\nAdded comment: PMID: 25044745 - 1 homozygous family (missense) with leber congenital amaurosis, JS and polycystic kidney disease. 13 healthy relatives were wildtype or heterozygous carriers only.\r\nMRI shows MTS, cerebellar vermis hypoplasia and malorientated cerebellar peduncles.\r\nNull zebrafish model had cystic kidney and retinal degeneration - no mention of JS features.\r\n\r\nPMID: 31390656 - 7 families (8 patients) either chet (PTC/missense) or homozygous (missense) with retinopathies. No mention of JS-related phenotypes eg. polydactyly, brain malformation, intellectual disability\r\n\r\nPMID: 25018096 - 1 homozygous family (missense) with cone rod dystrophy. No mention of JS-related phenotypes eg. polydactyly, brain malformation, intellectual disability\r\n\r\nSummary: single example of JS, doesnt seem to correlate with a particular genotype \nSources: Expert list",
"entity_name": "POC1B",
"entity_type": "gene"
},
{
"created": "2020-05-13T13:31:49.671663+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.48",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: KIAA0753 was added\ngene: KIAA0753 was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert list\nMode of inheritance for gene: KIAA0753 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIAA0753 were set to PMID: 31816441; 28220259; 29138412; 26643951\nPhenotypes for gene: KIAA0753 were set to ?Orofaciodigital syndrome XV\t617127; Joubert syndrome\nReview for gene: KIAA0753 was set to GREEN\nAdded comment: PMID: 31816441 - 1 patient with a homozygous PTC. No MTS on MRI at 8 months old, clearly stated by authors. Patient had a skeletal dysplasia. Authors summerize reports, no obvious genotype-phenotype correlation.\r\n\r\nPMID: 28220259 - 2 chet (missense/inframe del) siblings with JS. Both siblings showed the MTS on MRI, one also had additional hypoplasia of cerebellar vermis. Functional studies on patient cells demonstrated significantly less cilia.\r\n\r\nPMID: 29138412 - All patients had brachydactyly.\r\nPatient 1 and 2 (cousins) - showed MTS on MRI, inferior vermis dysplasia. Patients had a homozygous PTC.\r\nPatient 3 - no MTS, but described as having brain features consistent with JS.\r\nPatient 4 - vermis dysplasia, no mention of MTS. Not regarded as having JS, diagnosed with short-rib thoracic dyplasia. Patient was chet for two PTCs.\r\nZebrafish null models have skeletal abnormalities, no mention of brain analysis/abnormalities\r\n\r\nPMID: 26643951 - 1 chet patient (PTC/splice causing fs) with OFD syndrome. MRI shows MTS and vermis hypoplasia \nSources: Expert list",
"entity_name": "KIAA0753",
"entity_type": "gene"
},
{
"created": "2020-05-13T12:58:59.268784+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.48",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: VPS13B was added\ngene: VPS13B was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert Review\nMode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VPS13B were set to Cohen syndrome (MIM# 216550)\nReview for gene: VPS13B was set to AMBER\nAdded comment: Well reported to cause Cohen syndrome. Amber for this gene panel due to phenotypic overlap although not strictly a cilipoathy. \nSources: Expert Review",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2020-05-13T12:48:50.463379+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.48",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: TMEM107 was added\ngene: TMEM107 was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert Review\nMode of inheritance for gene: TMEM107 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM107 were set to 26595381; 26123494\nPhenotypes for gene: TMEM107 were set to Meckel syndrome 13 (MIM#617562); Orofaciodigital syndrome XVI (MIM#617563)\nReview for gene: TMEM107 was set to AMBER\nAdded comment: Minimal reports to date. Left as amber for now pending additional reports. Bordeline amber/green\r\n\r\nPMID: 26595381; Lambacher 2016: Reported hom (OFDVI female twins) and chet variants (JBTS male) in 2 families. All possesed JBTS-associated molar tooth sign\r\n\r\nPMID: 26123494; Shaheen 2015: Same hom splice variant reported in 2 apparently unrelated families (counted as 1). Anaylsis of patient fibroblasts shows ciliogenesis defect. \nSources: Expert Review",
"entity_name": "TMEM107",
"entity_type": "gene"
},
{
"created": "2020-05-13T12:26:08.703813+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.48",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: HYLS1 was added\ngene: HYLS1 was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert list\nMode of inheritance for gene: HYLS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HYLS1 were set to PMID: 26830932\nPhenotypes for gene: HYLS1 were set to Hydrolethalus syndrome\t236680\nReview for gene: HYLS1 was set to AMBER\nAdded comment: OMIM notes Dandy Walker anomaly as a neurological feature. All patients results in either stillbirths or neonatal death, so limited information available. Almost all patients have the same recurring missense (p.Asp211Gly)\r\n\r\nPMID: 18648327 - describes many patients with the recurring missense mutation. Summary table describes brain features of 19 patients, none appear to be consistent with JS\r\n\r\nPMID: 26830932 - 2 homozygous living siblings (stop-loss, extension) both diagnosed with JS. Patients had molar tooth signs and dysplasia of cerebellar vermis\r\n\r\nSingle reported family, but likely due to a unique mutational spectrum separate from the recurring missense \nSources: Expert list",
"entity_name": "HYLS1",
"entity_type": "gene"
},
{
"created": "2020-05-13T12:25:23.877822+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.48",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: TXNDC15 was added\ngene: TXNDC15 was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert Review\nMode of inheritance for gene: TXNDC15 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TXNDC15 were set to 30851085; 27894351\nPhenotypes for gene: TXNDC15 were set to Meckel-Gruber syndrome\nReview for gene: TXNDC15 was set to GREEN\nAdded comment: No OMIM number. Total of 4 families reported with supporting functional studies in ciliogenesis defects. Emerging MKS gene. \r\n\r\nPMID: 30851085; Ridnoi 2019: Chet variants identified in a prenatally diagnosed case of Meckel-Gruber syndrome. \r\n\r\nPMID: 27894351; Shaheen 2016: Reported 3 diff hom variants in 3 consang families with Meckel-Gruber syndrome.Functional studies performed showing defects in ciliogenesis \nSources: Expert Review",
"entity_name": "TXNDC15",
"entity_type": "gene"
},
{
"created": "2020-05-13T11:50:13.872288+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2814",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: ALPL: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19500388, 23688511; Phenotypes: Hypophosphatasia, adult 146300 (AD, AR), Hypophosphatasia, childhood 241510 AR, Hypophosphatasia, infantile 241500 AR, Odontohypophosphatasia 146300 AD, AR; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2020-05-13T11:29:23.002691+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.139",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: MUC1: Rating: RED; Mode of pathogenicity: None; Publications: 29186029, 29156055, 29520014; Phenotypes: Medullary cystic kidney disease 1 (MIM#174000); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "MUC1",
"entity_type": "gene"
},
{
"created": "2020-05-13T10:46:28.276306+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.48",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: C2CD3 was added\ngene: C2CD3 was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert list\nMode of inheritance for gene: C2CD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C2CD3 were set to PMID: 24997988\nPhenotypes for gene: C2CD3 were set to Orofaciodigital syndrome XIV\t615948\nReview for gene: C2CD3 was set to GREEN\nAdded comment: Molar tooth sign (MTS) a listed phenotype in OMIM\r\n\r\nPMID: 24997988 - 1 patient with a homozygous PTC. MRI showed MTS\r\n\r\nPMID: 30097616 - \r\n1 chet (two splice) patient with MTS, polydactyly. Sibling also had polydactyly, mild cerebellar hypoplasia and grey matter heterotopia. \r\n1 chet (two missense) patient with MTS, was noted to have a diagnosis of Joubert syndrome\r\nSummary Table 3 reviews previous reports, and notes 6/12 cases also had MTS. \nSources: Expert list",
"entity_name": "C2CD3",
"entity_type": "gene"
},
{
"created": "2020-05-13T09:10:01.477041+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.75",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: LRRC56 was added\ngene: LRRC56 was added to Ciliary Dyskinesia. Sources: Expert list\nMode of inheritance for gene: LRRC56 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LRRC56 were set to PMID: 30388400\nPhenotypes for gene: LRRC56 were set to Ciliary dyskinesia, primary, 39\t618254\nReview for gene: LRRC56 was set to GREEN\nAdded comment: PMID: 30388400 - PMID: 30388400 - used protist null model to show abnormal ciliary beatings, replicated the phenotype when the protist was transfected with mutant allele observed in a patient. \r\n3 unrelated families reported with either homozygous splice, missense or chet (nonsense/splice). Patients exhibited phenotypes including chronic respiratory/ear infections, situs inversus \nSources: Expert list",
"entity_name": "LRRC56",
"entity_type": "gene"
},
{
"created": "2020-05-13T09:09:58.359748+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2814",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: LRRC56 was added\ngene: LRRC56 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: LRRC56 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LRRC56 were set to PMID: 30388400\nPhenotypes for gene: LRRC56 were set to Ciliary dyskinesia, primary, 39\t618254\nAdded comment: PMID: 30388400 - used protist null model to show abnormal ciliary beatings, replicated the phenotype when the protist was transfected with mutant allele observed in a patient. \r\n3 unrelated families reported with either homozygous splice, missense or chet (nonsense/splice). Patients exhibited phenotypes including chronic respiratory/ear infections, situs inversus \nSources: Expert list",
"entity_name": "LRRC56",
"entity_type": "gene"
},
{
"created": "2020-05-13T08:48:53.837483+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2635",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: IQSEC3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32049026, 31130284, 31680123; Phenotypes: Intellectual disability, Fetal akinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IQSEC3",
"entity_type": "gene"
},
{
"created": "2020-05-13T08:39:09.140158+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.48",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: KIAA0586 was added\ngene: KIAA0586 was added to Joubert syndrome and other neurological ciliopathies. Sources: Literature\nMode of inheritance for gene: KIAA0586 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIAA0586 were set to PMID: 26096313\nPhenotypes for gene: KIAA0586 were set to Joubert syndrome 23\t616490; Short-rib thoracic dysplasia 14 with polydactyly\t616546\nReview for gene: KIAA0586 was set to GREEN\nAdded comment: PMID: 26096313 - 9 unrelated families with Joubert syndrome. MRI shows the molar tooth sign in 3/3 scanned patients. Patients tended to have biallelic PTCs, though missense also reported. p.Arg143Lysfs*4 appears to be a recurring mutation, seen in patients either as a homozygote or in chet with another unique mutation in 7/9 families. Interestingly these 7 families were of different ethnicity \nSources: Literature",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2020-05-12T18:32:02.306470+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.54",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: YY1AP1 as Green List (high evidence)",
"entity_name": "YY1AP1",
"entity_type": "gene"
},
{
"created": "2020-05-12T18:32:02.297603+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.54",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: yy1ap1 has been classified as Green List (High Evidence).",
"entity_name": "YY1AP1",
"entity_type": "gene"
},
{
"created": "2020-05-12T18:31:54.425480+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: YY1AP1 was added\ngene: YY1AP1 was added to Stroke. Sources: Literature\nMode of inheritance for gene: YY1AP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: YY1AP1 were set to 31633303; 30356112; 31270375; 22987684; 16691574\nPhenotypes for gene: YY1AP1 were set to Grange syndrome MIM#602531\nReview for gene: YY1AP1 was set to GREEN\nAdded comment: At least 3 cases reported with early-onset stroke \nSources: Literature",
"entity_name": "YY1AP1",
"entity_type": "gene"
},
{
"created": "2020-05-12T18:27:22.511614+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFITM5 as ready",
"entity_name": "IFITM5",
"entity_type": "gene"
},
{
"created": "2020-05-12T18:27:22.498206+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ifitm5 has been classified as Green List (High Evidence).",
"entity_name": "IFITM5",
"entity_type": "gene"
},
{
"created": "2020-05-12T18:27:13.082377+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFITM5 were changed from to Osteogenesis imperfecta type V, MIM#610967",
"entity_name": "IFITM5",
"entity_type": "gene"
},
{
"created": "2020-05-12T18:26:44.540361+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFITM5 were set to ",
"entity_name": "IFITM5",
"entity_type": "gene"
},
{
"created": "2020-05-12T18:26:14.269373+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: IFITM5 was changed from to Other",
"entity_name": "IFITM5",
"entity_type": "gene"
},
{
"created": "2020-05-12T18:25:48.271607+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IFITM5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "IFITM5",
"entity_type": "gene"
},
{
"created": "2020-05-12T18:24:19.683042+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MOGS as ready",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2020-05-12T18:24:19.671637+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mogs has been classified as Green List (High Evidence).",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2020-05-12T18:24:17.315510+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MOGS were changed from to Congenital disorder of glycosylation, type IIb, MIM# 606056",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2020-05-12T18:23:39.846403+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MOGS were set to ",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2020-05-12T18:23:10.065228+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MOGS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2020-05-12T18:22:39.737431+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MOGS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31925597; Phenotypes: Congenital disorder of glycosylation, type IIb, MIM# 606056; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2020-05-12T18:21:36.483476+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.14",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: IFITM5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22863190, 22863195, 32383316, 24519609; Phenotypes: Osteogenesis imperfecta type V, MIM#610967; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "IFITM5",
"entity_type": "gene"
},
{
"created": "2020-05-12T18:21:26.118882+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2814",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MOGS as ready",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2020-05-12T18:21:26.106935+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2814",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mogs has been classified as Green List (High Evidence).",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2020-05-12T18:21:18.481364+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2814",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MOGS were changed from to Congenital disorder of glycosylation, type IIb 606056",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2020-05-12T18:20:55.170718+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MOGS were set to ",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2020-05-12T18:20:33.726285+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2812",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MOGS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2020-05-12T18:19:15.673437+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2811",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCF7L1 as ready",
"entity_name": "TCF7L1",
"entity_type": "gene"
},
{
"created": "2020-05-12T18:19:15.659843+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2811",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tcf7l1 has been classified as Red List (Low Evidence).",
"entity_name": "TCF7L1",
"entity_type": "gene"
},
{
"created": "2020-05-12T18:19:00.837173+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2811",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCF7L1 were changed from to Congenital hypopituitarism",
"entity_name": "TCF7L1",
"entity_type": "gene"
},
{
"created": "2020-05-12T18:18:40.952063+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2810",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TCF7L1 were set to ",
"entity_name": "TCF7L1",
"entity_type": "gene"
},
{
"created": "2020-05-12T18:18:15.255821+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2809",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TCF7L1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TCF7L1",
"entity_type": "gene"
},
{
"created": "2020-05-12T18:17:55.308040+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TCF7L1 as Red List (low evidence)",
"entity_name": "TCF7L1",
"entity_type": "gene"
},
{
"created": "2020-05-12T18:17:55.299043+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tcf7l1 has been classified as Red List (Low Evidence).",
"entity_name": "TCF7L1",
"entity_type": "gene"
},
{
"created": "2020-05-12T17:51:47.980695+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.52",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SMARCAL1 as Green List (high evidence)",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2020-05-12T17:51:47.971914+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.52",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: smarcal1 has been classified as Green List (High Evidence).",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2020-05-12T17:51:22.149410+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.51",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SMARCAL1 was added\ngene: SMARCAL1 was added to Stroke. Sources: Literature\nMode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SMARCAL1 were set to 16840568; 9674900; 30356112; 30026777; 20301550\nPhenotypes for gene: SMARCAL1 were set to Schimke immunoosseous dysplasia MIM#242900\nReview for gene: SMARCAL1 was set to GREEN\nAdded comment: Moyamoya type strokes or cerebral ischaemic attacks have been reported as features of the condition. \nSources: Literature",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2020-05-12T17:11:16.411447+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.50",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SERPINC1 as ready",
"entity_name": "SERPINC1",
"entity_type": "gene"
},
{
"created": "2020-05-12T17:11:16.402738+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.50",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: serpinc1 has been classified as Green List (High Evidence).",
"entity_name": "SERPINC1",
"entity_type": "gene"
},
{
"created": "2020-05-12T17:11:12.748501+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.50",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SERPINC1 as Green List (high evidence)",
"entity_name": "SERPINC1",
"entity_type": "gene"
},
{
"created": "2020-05-12T17:11:12.736575+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.50",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: serpinc1 has been classified as Green List (High Evidence).",
"entity_name": "SERPINC1",
"entity_type": "gene"
},
{
"created": "2020-05-12T17:11:03.829979+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.49",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SERPINC1 was added\ngene: SERPINC1 was added to Stroke. Sources: Literature\nMode of inheritance for gene: SERPINC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SERPINC1 were set to 31359133; 30356112; 23910795\nPhenotypes for gene: SERPINC1 were set to Thrombophilia due to antithrombin III deficiency MIM#613118\nReview for gene: SERPINC1 was set to GREEN\nAdded comment: There is a high incidence of stroke in the condition. \nSources: Literature",
"entity_name": "SERPINC1",
"entity_type": "gene"
},
{
"created": "2020-05-12T17:09:10.268616+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2807",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "reviewed gene: TCF7L1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 26764381; Phenotypes: Congenital hypopituitarism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TCF7L1",
"entity_type": "gene"
},
{
"created": "2020-05-12T17:00:11.202017+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.48",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SCN5A as Green List (high evidence)",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2020-05-12T17:00:11.193256+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.48",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: scn5a has been classified as Green List (High Evidence).",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2020-05-12T16:59:50.669921+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.47",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SCN5A was added\ngene: SCN5A was added to Stroke. Sources: Literature\nMode of inheritance for gene: SCN5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SCN5A were set to 30356112; 29579189; 28294644; 16684018\nPhenotypes for gene: SCN5A were set to Atrial fibrillation, familial, 10 MIM#614022\nReview for gene: SCN5A was set to GREEN\nAdded comment: Early onset stroke has been reported in at least 4 families. \nSources: Literature",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2020-05-12T16:47:30.087546+10:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: SCN3B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Brugada syndrome 7 MIM#613120; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN3B",
"entity_type": "gene"
},
{
"created": "2020-05-12T16:31:37.045771+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.46",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SAMHD1 as ready",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2020-05-12T16:31:37.036856+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.46",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: samhd1 has been classified as Green List (High Evidence).",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2020-05-12T16:31:32.685475+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.46",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SAMHD1 as Green List (high evidence)",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2020-05-12T16:31:32.673423+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.46",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: samhd1 has been classified as Green List (High Evidence).",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2020-05-12T16:31:24.365512+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SAMHD1 was added\ngene: SAMHD1 was added to Stroke. Sources: Literature\nMode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SAMHD1 were set to 20842748; 21402907; 27051737; 25672750; 28289923\nPhenotypes for gene: SAMHD1 were set to Aicardi-Goutieres syndrome 5 MIM#612952\nReview for gene: SAMHD1 was set to GREEN\nAdded comment: At least 4 families where early onset stroke has been reported and a zebrafish model. \nSources: Literature",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2020-05-12T16:12:05.590937+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PROS1 as ready",
"entity_name": "PROS1",
"entity_type": "gene"
},
{
"created": "2020-05-12T16:12:05.581944+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pros1 has been classified as Green List (High Evidence).",
"entity_name": "PROS1",
"entity_type": "gene"
},
{
"created": "2020-05-12T16:12:00.698474+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PROS1 as Green List (high evidence)",
"entity_name": "PROS1",
"entity_type": "gene"
},
{
"created": "2020-05-12T16:12:00.680281+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pros1 has been classified as Green List (High Evidence).",
"entity_name": "PROS1",
"entity_type": "gene"
},
{
"created": "2020-05-12T16:11:52.864951+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.43",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PROS1 was added\ngene: PROS1 was added to Stroke. Sources: Literature\nMode of inheritance for gene: PROS1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: PROS1 were set to 20484936; 25997409; 21172841; 19729839\nPhenotypes for gene: PROS1 were set to Thrombophilia due to protein S deficiency\nReview for gene: PROS1 was set to GREEN\nAdded comment: At least 3 families reported with stroke and a supporting null mouse model. \nSources: Literature",
"entity_name": "PROS1",
"entity_type": "gene"
},
{
"created": "2020-05-12T16:06:44.315071+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.42",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PROC as Green List (high evidence)",
"entity_name": "PROC",
"entity_type": "gene"
},
{
"created": "2020-05-12T16:06:44.305730+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.42",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: proc has been classified as Green List (High Evidence).",
"entity_name": "PROC",
"entity_type": "gene"
},
{
"created": "2020-05-12T16:06:35.747093+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.41",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PROC was added\ngene: PROC was added to Stroke. Sources: Literature\nMode of inheritance for gene: PROC was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: PROC were set to 1511989; 20187890; 30356112; 32351850\nPhenotypes for gene: PROC were set to Thrombophilia due to protein C deficiency\nReview for gene: PROC was set to GREEN\nAdded comment: PC deficiency is a cause for the development of stroke, particularly in young adults. \nSources: Literature",
"entity_name": "PROC",
"entity_type": "gene"
},
{
"created": "2020-05-12T15:34:06.470869+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PDE3A as ready",
"entity_name": "PDE3A",
"entity_type": "gene"
},
{
"created": "2020-05-12T15:34:06.458568+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pde3a has been classified as Green List (High Evidence).",
"entity_name": "PDE3A",
"entity_type": "gene"
},
{
"created": "2020-05-12T15:34:01.086718+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PDE3A as Green List (high evidence)",
"entity_name": "PDE3A",
"entity_type": "gene"
},
{
"created": "2020-05-12T15:34:01.075199+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pde3a has been classified as Green List (High Evidence).",
"entity_name": "PDE3A",
"entity_type": "gene"
},
{
"created": "2020-05-12T15:33:52.925114+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.39",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PDE3A was added\ngene: PDE3A was added to Stroke. Sources: Literature\nMode of inheritance for gene: PDE3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PDE3A were set to 31589936; 25961942; 30356112\nPhenotypes for gene: PDE3A were set to Hypertension and brachydactyly syndrome MIM#112410\nReview for gene: PDE3A was set to GREEN\nAdded comment: Stroke is a prominent feature of the condition if left untreated. \nSources: Literature",
"entity_name": "PDE3A",
"entity_type": "gene"
},
{
"created": "2020-05-12T15:25:43.791050+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PDCD10 as Green List (high evidence)",
"entity_name": "PDCD10",
"entity_type": "gene"
},
{
"created": "2020-05-12T15:25:43.781858+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pdcd10 has been classified as Green List (High Evidence).",
"entity_name": "PDCD10",
"entity_type": "gene"
},
{
"created": "2020-05-12T15:25:34.994759+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.37",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PDCD10 was added\ngene: PDCD10 was added to Stroke. Sources: Literature\nMode of inheritance for gene: PDCD10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PDCD10 were set to 30356112; 15543491\nPhenotypes for gene: PDCD10 were set to Cerebral cavernous malformations 3 MIM#603285\nReview for gene: PDCD10 was set to GREEN\nAdded comment: At least 7 families reported and stroke can be a feature of the condition. \nSources: Literature",
"entity_name": "PDCD10",
"entity_type": "gene"
},
{
"created": "2020-05-12T15:09:36.020000+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.36",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PCCB as Green List (high evidence)",
"entity_name": "PCCB",
"entity_type": "gene"
},
{
"created": "2020-05-12T15:09:36.011186+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.36",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pccb has been classified as Green List (High Evidence).",
"entity_name": "PCCB",
"entity_type": "gene"
}
]
}