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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=459",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=457",
"results": [
{
"created": "2024-05-06T10:12:22.900806+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1770",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: Classified DEFINITIVE by ClinGen on 08/09/2022 - https://search.clinicalgenome.org/CCID:004669 \nSources: Other; to: Classified DEFINITIVE by ClinGen Motile Ciliopathies GCEP on 08/09/2022 - https://search.clinicalgenome.org/CCID:004669 \r\nSources: Other",
"entity_name": "DNAH17",
"entity_type": "gene"
},
{
"created": "2024-05-06T10:11:46.126153+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.39",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: Classified DEFINITIVE by ClinGen on 08/09/2022 - https://search.clinicalgenome.org/CCID:004669 \nSources: Other; to: Classified DEFINITIVE by ClinGen Motile Ciliopathies GCEP on 08/09/2022 - https://search.clinicalgenome.org/CCID:004669 \r\nSources: Other",
"entity_name": "DNAH17",
"entity_type": "gene"
},
{
"created": "2024-05-06T10:11:29.384049+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.39",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: DNAH5: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004670; Phenotypes: primary ciliary dyskinesia 3 (MONDO:0012085); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAH5",
"entity_type": "gene"
},
{
"created": "2024-05-06T10:09:27.232833+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1770",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: DNAH17 was added\ngene: DNAH17 was added to Mendeliome. Sources: Other\nMode of inheritance for gene: DNAH17 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAH17 were set to https://search.clinicalgenome.org/CCID:004669\nPhenotypes for gene: DNAH17 were set to spermatogenic failure 39 (MONDO:0032845)\nReview for gene: DNAH17 was set to GREEN\nAdded comment: Classified DEFINITIVE by ClinGen on 08/09/2022 - https://search.clinicalgenome.org/CCID:004669 \nSources: Other",
"entity_name": "DNAH17",
"entity_type": "gene"
},
{
"created": "2024-05-06T10:07:52.243819+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.39",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: DNAH17 was added\ngene: DNAH17 was added to Ciliary Dyskinesia. Sources: Other\nMode of inheritance for gene: DNAH17 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAH17 were set to https://search.clinicalgenome.org/CCID:004669\nPhenotypes for gene: DNAH17 were set to spermatogenic failure 39 (MONDO:0032845)\nReview for gene: DNAH17 was set to GREEN\nAdded comment: Classified DEFINITIVE by ClinGen on 08/09/2022 - https://search.clinicalgenome.org/CCID:004669 \nSources: Other",
"entity_name": "DNAH17",
"entity_type": "gene"
},
{
"created": "2024-05-06T09:55:24.650338+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.39",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: LRRC6: Rating: ; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004663; Phenotypes: ; Mode of inheritance: None",
"entity_name": "LRRC6",
"entity_type": "gene"
},
{
"created": "2024-05-05T20:27:16.533508+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5796",
"user_name": "Amy Chiang",
"item_type": "entity",
"text": "changed review comment from: SPR has been classified to have definitive association with dopa-responsive dystonia. This was reviewed by the Aminoacidopathy Expert Panel on 06/04/2021.\r\nThere are 271 SPR variants registered in ClinVar to date with only 1 submission from a research lab reported 2 affected individuals with intellectual disability + family history (ClinVar # 625209) - no publication available to verify, ? from BRIDGE consortium study: SPEED project cohort\r\nA start loss variant detected in 5 affected individuals with ID & epilepsy from a Persian consanguineous family - LOD score = 4.027 (PMID: 29302074); to: SPR has been classified to have definitive association with dopa-responsive dystonia. This was reviewed by the Aminoacidopathy Expert Panel on 06/04/2021.\r\nThere are 271 SPR variants registered in ClinVar to date with only 1 submission from a research lab reported 2 affected individuals with intellectual disability + family history (ClinVar # 625209) - no publication available to verify, ? from BRIDGE consortium study: SPEED project cohort\r\nA start loss variant detected in 5 affected individuals with ID & epilepsy from a Persian consanguineous family - LOD score = 4.027 (PMID: 29302074)",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2024-05-05T19:55:06.865677+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5796",
"user_name": "Amy Chiang",
"item_type": "entity",
"text": "reviewed gene: SPR: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 29302074; Phenotypes: dopa-responsive dystonia due to sepiapterin reductase deficiency, MONDO: 0012994, Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM: 612716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2024-05-04T22:27:04.238340+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1770",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SLC52A1 as Amber List (moderate evidence)",
"entity_name": "SLC52A1",
"entity_type": "gene"
},
{
"created": "2024-05-04T22:27:04.227883+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1770",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Moderate gene-disease classification by ClinGen - https://search.clinicalgenome.org/CCID:006192",
"entity_name": "SLC52A1",
"entity_type": "gene"
},
{
"created": "2024-05-04T22:27:04.182139+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1770",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: slc52a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC52A1",
"entity_type": "gene"
},
{
"created": "2024-05-04T22:24:39.878361+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1769",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: SLC52A1 were set to 29122468; 17689999",
"entity_name": "SLC52A1",
"entity_type": "gene"
},
{
"created": "2024-05-04T22:24:11.224680+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1768",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: SLC52A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 37510312, 29122468, 21089064; Phenotypes: Maternal riboflavin deficiency MONDO:0014013, Disorders of riboflavin metabolism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC52A1",
"entity_type": "gene"
},
{
"created": "2024-05-04T21:18:59.553938+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SLC25A19 as ready",
"entity_name": "SLC25A19",
"entity_type": "gene"
},
{
"created": "2024-05-04T21:18:59.538218+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: slc25a19 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A19",
"entity_type": "gene"
},
{
"created": "2024-05-04T21:18:54.717207+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SLC25A19 as Green List (high evidence)",
"entity_name": "SLC25A19",
"entity_type": "gene"
},
{
"created": "2024-05-04T21:18:54.704326+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: slc25a19 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A19",
"entity_type": "gene"
},
{
"created": "2024-05-04T21:18:29.929470+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC25A19 was added\ngene: SLC25A19 was added to Hereditary Neuropathy - complex. Sources: Literature\nMode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC25A19 were set to 20301539\nPhenotypes for gene: SLC25A19 were set to Progressive demyelinating neuropathy with bilateral striatal necrosis MONDO:0013382\nReview for gene: SLC25A19 was set to GREEN\ngene: SLC25A19 was marked as current diagnostic\nAdded comment: Neuropathy is a feature of the condition \nSources: Literature",
"entity_name": "SLC25A19",
"entity_type": "gene"
},
{
"created": "2024-05-04T14:17:38.872560+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC2A2 as ready",
"entity_name": "SLC2A2",
"entity_type": "gene"
},
{
"created": "2024-05-04T14:17:38.855392+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc2a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC2A2",
"entity_type": "gene"
},
{
"created": "2024-05-04T14:17:36.130286+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC2A2 were changed from {Diabetes mellitus, noninsulin-dependent}; Fanconi-Bickel syndrome to Fanconi-Bickel syndrome, MIM#\t227810",
"entity_name": "SLC2A2",
"entity_type": "gene"
},
{
"created": "2024-05-04T14:16:10.238091+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGPAT2 as ready",
"entity_name": "AGPAT2",
"entity_type": "gene"
},
{
"created": "2024-05-04T14:16:10.222374+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agpat2 has been classified as Green List (High Evidence).",
"entity_name": "AGPAT2",
"entity_type": "gene"
},
{
"created": "2024-05-04T14:16:07.958028+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AGPAT2 were changed from neonatal diabetes mellitus to congenital generalized lipodystrophy type 1 MONDO:0012071",
"entity_name": "AGPAT2",
"entity_type": "gene"
},
{
"created": "2024-05-04T14:15:48.201155+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AGPAT2 were set to PubMed PMID: 11967537, PubMed PMID: 12765973.",
"entity_name": "AGPAT2",
"entity_type": "gene"
},
{
"created": "2024-05-04T14:15:15.449266+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC40A1 as ready",
"entity_name": "SLC40A1",
"entity_type": "gene"
},
{
"created": "2024-05-04T14:15:15.433970+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc40a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC40A1",
"entity_type": "gene"
},
{
"created": "2024-05-04T14:15:12.069817+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC40A1 were changed from Hemochromatosis, type 4 606069 to Hemochromatosis, type 4, MIM# 606069",
"entity_name": "SLC40A1",
"entity_type": "gene"
},
{
"created": "2024-05-04T14:15:02.519327+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC40A1 were set to ",
"entity_name": "SLC40A1",
"entity_type": "gene"
},
{
"created": "2024-05-04T14:14:30.772691+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: SLC40A1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "SLC40A1",
"entity_type": "gene"
},
{
"created": "2024-05-04T14:13:45.253942+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC29A3 as ready",
"entity_name": "SLC29A3",
"entity_type": "gene"
},
{
"created": "2024-05-04T14:13:45.241190+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc29a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC29A3",
"entity_type": "gene"
},
{
"created": "2024-05-04T14:13:42.630248+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC29A3 were changed from Histiocytosis-lymphadenopathy plus syndrome,602782; Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome; H syndrome (hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and hyperglycaemia) and PHID syndrome (pigmented hypertrichosis with insulin dependent diabetes) to Histiocytosis-lymphadenopathy plus syndrome, MIM#602782",
"entity_name": "SLC29A3",
"entity_type": "gene"
},
{
"created": "2024-05-04T14:13:24.900414+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC29A3 were set to 19336477",
"entity_name": "SLC29A3",
"entity_type": "gene"
},
{
"created": "2024-05-04T14:12:56.670203+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC19A2 as ready",
"entity_name": "SLC19A2",
"entity_type": "gene"
},
{
"created": "2024-05-04T14:12:56.658869+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc19a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC19A2",
"entity_type": "gene"
},
{
"created": "2024-05-04T14:12:54.021813+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC19A2 were changed from Thiamine-responsive megaloblastic anemia syndrome; MEGALOBLASTIC ANEMIA, THIAMINE-RESPONSIVE, WITH DIABETES MELLITUS AND SENSORINEURAL DEAFNESS ROGERS SYNDROME to thiamine-responsive megaloblastic anemia syndrome MONDO:0009575",
"entity_name": "SLC19A2",
"entity_type": "gene"
},
{
"created": "2024-05-04T14:12:22.438086+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC19A2 were set to 26549656; 26839896",
"entity_name": "SLC19A2",
"entity_type": "gene"
},
{
"created": "2024-05-04T14:11:53.504212+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BSCL2 as ready",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2024-05-04T14:11:53.488931+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bscl2 has been classified as Green List (High Evidence).",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2024-05-04T14:11:05.264968+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BSCL2 were changed from Berardinelli-Seip congenital lipodystrophy to congenital generalized lipodystrophy type 2 MONDO:0010020; diabetes mellitus MONDO:0005015",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2024-05-04T14:10:53.306684+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BSCL2 were set to 11479539",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2024-05-04T14:10:10.750115+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POLG as Amber List (moderate evidence)",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2024-05-04T14:10:10.739817+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polg has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2024-05-04T14:08:52.514991+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPP1R15B as ready",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2024-05-04T14:08:52.503766+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp1r15b has been classified as Amber List (Moderate Evidence).",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2024-05-04T14:08:46.511354+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPP1R15B as Amber List (moderate evidence)",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2024-05-04T14:08:46.498612+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp1r15b has been classified as Amber List (Moderate Evidence).",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2024-05-04T14:08:07.507023+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PPP1R15B were set to ",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2024-05-04T14:07:19.799757+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL4A2 as Amber List (moderate evidence)",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2024-05-04T14:07:19.790116+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2024-05-04T14:06:09.633154+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAX6 as ready",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2024-05-04T14:06:09.616521+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pax6 has been classified as Red List (Low Evidence).",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2024-05-04T14:06:06.022019+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAX6 were changed from Aniridia 106210; diabetes to Monogenic diabetes, MONDO:0015967, PAX6-related",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2024-05-04T14:05:11.652592+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PAX6 were set to ",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2024-05-04T14:04:53.068626+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PAX6 as Red List (low evidence)",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2024-05-04T14:04:53.053178+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pax6 has been classified as Red List (Low Evidence).",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2024-05-04T14:04:39.596377+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PAX6: Rating: RED; Mode of pathogenicity: None; Publications: 36202929; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2024-05-04T14:01:31.724448+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HNF4A as ready",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2024-05-04T14:01:31.713125+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnf4a has been classified as Green List (High Evidence).",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2024-05-04T14:01:28.337917+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HNF4A were changed from Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young 616026; Maturity-Onset Diabetes Of The Young, Type 1; MODY1, 125850; {Diabetes mellitus, noninsulin-dependent}, 125853 to Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young 616026; Maturity-Onset Diabetes Of The Young, Type 1; MODY1, 125850; {Diabetes mellitus, noninsulin-dependent}, 125853",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2024-05-04T14:01:18.094502+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HNF4A were set to 28242437",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2024-05-04T14:00:01.664052+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALMS1 as ready",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2024-05-04T14:00:01.599525+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alms1 has been classified as Green List (High Evidence).",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:59:58.673746+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALMS1 were changed from Alstrom syndrome to Alstrom syndrome MONDO:0008763",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:59:47.576152+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALMS1 were set to ",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:59:25.398348+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CISD2 as ready",
"entity_name": "CISD2",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:59:25.384692+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cisd2 has been classified as Green List (High Evidence).",
"entity_name": "CISD2",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:59:22.651822+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CISD2 were changed from Wolfram syndrome 2604928 to Wolfram syndrome, MIM#2604928",
"entity_name": "CISD2",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:59:12.415785+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CISD2 were set to 25056293; 17846994",
"entity_name": "CISD2",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:57:44.016935+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DMXL2 as ready",
"entity_name": "DMXL2",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:57:43.990247+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dmxl2 has been classified as Red List (Low Evidence).",
"entity_name": "DMXL2",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:57:29.676814+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DMXL2 were changed from Sensorineural Hearing Loss; OMIM:612186; ORPHA90636 to Polyendocrine-polyneuropathy syndrome , MIM#\t616113",
"entity_name": "DMXL2",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:57:00.320394+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DMXL2 were set to 22875945; 27657680; 25248098",
"entity_name": "DMXL2",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:56:44.297409+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DMXL2 as Red List (low evidence)",
"entity_name": "DMXL2",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:56:44.279080+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dmxl2 has been classified as Red List (Low Evidence).",
"entity_name": "DMXL2",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:56:18.114619+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STAT3 as ready",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:56:18.103215+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stat3 has been classified as Green List (High Evidence).",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:56:15.444854+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STAT3 were changed from to STAT3-related early-onset multisystem autoimmune disease MONDO:0014414",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:56:04.579407+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STAT3 were set to 25038750; 27167055",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:55:29.718764+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STAT1 as ready",
"entity_name": "STAT1",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:55:29.699795+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stat1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "STAT1",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:55:27.061405+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STAT1 were changed from to autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome MONDO:0013599",
"entity_name": "STAT1",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:55:14.510263+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STAT1 were set to 23534974",
"entity_name": "STAT1",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:55:01.822969+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: STAT1 as Amber List (moderate evidence)",
"entity_name": "STAT1",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:55:01.791007+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stat1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "STAT1",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:54:23.760703+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRMT10A as ready",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:54:23.746312+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trmt10a has been classified as Green List (High Evidence).",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:54:20.933309+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRMT10A were changed from Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability; failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies; young onset diabetes, short stature and microcephaly with intellectual disability; Microcephaly, short stature, and impaired glucose metabolism 1, 616033 to Microcephaly, short stature, and impaired glucose metabolism 1, 616033",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:54:04.429585+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRMT10A were set to 26297882; 24204302",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:53:19.685169+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN8A as ready",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:53:19.673001+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn8a has been classified as Green List (High Evidence).",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:52:52.974116+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCN8A were changed from to Complex neurodevelopmental disorder MONDO:0100038",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:52:12.917338+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCN8A were set to ",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:51:28.318702+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCN8A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:50:38.741293+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC2A1 as ready",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:50:38.723791+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc2a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:50:26.199968+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC2A1 were changed from to GLUT1 deficiency syndrome MONDO:0000188",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:49:48.791090+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC2A1 were set to ",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:49:12.352687+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC2A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC2A1",
"entity_type": "gene"
}
]
}