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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=465",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=463",
"results": [
{
"created": "2024-04-29T11:05:11.637408+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mypn has been classified as Red List (Low Evidence).",
"entity_name": "MYPN",
"entity_type": "gene"
},
{
"created": "2024-04-29T11:05:02.890936+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYPN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1KK, MIM# 615248, Cardiomyopathy, hypertrophic, 22, MIM# 615248; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYPN",
"entity_type": "gene"
},
{
"created": "2024-04-27T15:59:17.877944+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5784",
"user_name": "Yixin JIANG",
"item_type": "entity",
"text": "reviewed gene: SLC35C1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33836758, 32313197, 34389986; Phenotypes: Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC35C1",
"entity_type": "gene"
},
{
"created": "2024-04-27T15:37:41.322203+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1723",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2024-04-27T15:37:33.410982+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1723",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "commented on gene: AMPD2",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2024-04-27T15:37:23.720621+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1723",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2024-04-27T14:06:00.433473+10:00",
"panel_name": "Metabolic Disorders Superpanel",
"panel_id": 3465,
"panel_version": "8.143",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Changed child panels to: Congenital Disorders of Glycosylation; Miscellaneous Metabolic Disorders; Calcium and Phosphate disorders; Fatty Acid Oxidation Defects; Hypertension and Aldosterone disorders; Lysosomal Storage Disorder; Neurotransmitter Defects; Disorders of branched chain amino acid metabolism; Glycogen Storage Diseases; Inherited vitamin B12 or cobalamin deficiency; Mitochondrial disease; Peroxisomal Disorders; Monogenic Diabetes; Iron metabolism disorders; Dyslipidaemia; Vitamin C Pathway Disorders; Porphyria; Hyperammonaemia",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-04-27T13:40:05.754031+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1723",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "SAR1B",
"entity_type": "gene"
},
{
"created": "2024-04-27T13:39:57.007260+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1723",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "commented on gene: SAR1B",
"entity_name": "SAR1B",
"entity_type": "gene"
},
{
"created": "2024-04-27T13:39:40.511571+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1723",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "SAR1B",
"entity_type": "gene"
},
{
"created": "2024-04-27T13:31:04.174340+10:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.37",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: STAP1 as ready",
"entity_name": "STAP1",
"entity_type": "gene"
},
{
"created": "2024-04-27T13:31:04.163252+10:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.37",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: stap1 has been classified as Red List (Low Evidence).",
"entity_name": "STAP1",
"entity_type": "gene"
},
{
"created": "2024-04-27T13:30:56.695042+10:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.37",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: STAP1 was added\ngene: STAP1 was added to Dyslipidaemia. Sources: Literature\nMode of inheritance for gene: STAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: STAP1 were set to 31809983; 31996024; 32208993\nPhenotypes for gene: STAP1 were set to Familial hypercholesterolemia MONDO:0005439\nReview for gene: STAP1 was set to RED\nAdded comment: The gene appears to fulfil the criteria for a refuted gene-disease association \nSources: Literature",
"entity_name": "STAP1",
"entity_type": "gene"
},
{
"created": "2024-04-26T20:16:19.283941+10:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.43",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:PLA2G6 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-04-26T20:14:17.718468+10:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.42",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:PANK2 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-04-26T20:10:59.747056+10:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.41",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:FA2H from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-04-26T20:09:07.994735+10:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.40",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:C19orf12 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-04-26T20:05:38.242192+10:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.39",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:ATP13A2 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-04-26T10:20:43.490350+10:00",
"panel_name": "Liverome Superpanel",
"panel_id": 4191,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Royal Melbourne Hospital",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-04-25T18:14:32.730825+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5784",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: PTRH2 were set to 25574476; 28175314; 28328138; 25558065; 27129381",
"entity_name": "PTRH2",
"entity_type": "gene"
},
{
"created": "2024-04-25T18:13:58.029383+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5783",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PTRH2 as Green List (high evidence)",
"entity_name": "PTRH2",
"entity_type": "gene"
},
{
"created": "2024-04-25T18:13:58.006751+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5783",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ptrh2 has been classified as Green List (High Evidence).",
"entity_name": "PTRH2",
"entity_type": "gene"
},
{
"created": "2024-04-25T18:13:27.137086+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5782",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: PTRH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33092935, 37239392; Phenotypes: neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 MONDO:8000012; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PTRH2",
"entity_type": "gene"
},
{
"created": "2024-04-25T17:42:14.575144+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.225",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SCARB2 as ready",
"entity_name": "SCARB2",
"entity_type": "gene"
},
{
"created": "2024-04-25T17:42:14.564972+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.225",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: scarb2 has been classified as Green List (High Evidence).",
"entity_name": "SCARB2",
"entity_type": "gene"
},
{
"created": "2024-04-25T17:41:01.944723+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.225",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: SCARB2 were changed from to Progressive Myoclonus Epilepsy, MONDO:0020074; Epilepsy, progressive myoclonic 4, with or without renal failure, MIM #254900",
"entity_name": "SCARB2",
"entity_type": "gene"
},
{
"created": "2024-04-25T17:35:15.926366+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.224",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: SCARB2 were set to ",
"entity_name": "SCARB2",
"entity_type": "gene"
},
{
"created": "2024-04-25T17:33:59.247481+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.223",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCARB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SCARB2",
"entity_type": "gene"
},
{
"created": "2024-04-25T16:26:44.530293+10:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.38",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:WDR45 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-04-25T13:43:19.918863+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: VPS13C as ready",
"entity_name": "VPS13C",
"entity_type": "gene"
},
{
"created": "2024-04-25T13:43:19.909550+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: vps13c has been classified as Green List (High Evidence).",
"entity_name": "VPS13C",
"entity_type": "gene"
},
{
"created": "2024-04-25T13:43:16.823612+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: VPS13C as Green List (high evidence)",
"entity_name": "VPS13C",
"entity_type": "gene"
},
{
"created": "2024-04-25T13:43:16.814338+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: vps13c has been classified as Green List (High Evidence).",
"entity_name": "VPS13C",
"entity_type": "gene"
},
{
"created": "2024-04-25T13:42:44.554040+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: VPS13C as Green List (high evidence)",
"entity_name": "VPS13C",
"entity_type": "gene"
},
{
"created": "2024-04-25T13:42:44.540887+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: vps13c has been classified as Green List (High Evidence).",
"entity_name": "VPS13C",
"entity_type": "gene"
},
{
"created": "2024-04-25T13:41:07.689974+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: VPS13C was added\ngene: VPS13C was added to Early-onset Dementia. Sources: Literature\nMode of inheritance for gene: VPS13C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VPS13C were set to 33579389; 37330543; 34875562\nPhenotypes for gene: VPS13C were set to autosomal recessive early-onset Parkinson disease 23\tMONDO:0014796\nReview for gene: VPS13C was set to GREEN\ngene: VPS13C was marked as current diagnostic\nAdded comment: Multiple cases with biallelic variants and dementia with Lewy bodies have been reported. \nSources: Literature",
"entity_name": "VPS13C",
"entity_type": "gene"
},
{
"created": "2024-04-25T04:12:54.198106+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.406",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: PIP5K1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 38491417; Phenotypes: Lethal congenital contractural syndrome 3, OMIM:611369; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2024-04-24T18:27:22.963063+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1723",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: KIAA1024L.",
"entity_name": "KIAA1024L",
"entity_type": "gene"
},
{
"created": "2024-04-24T18:26:58.382109+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIAA1024L as ready",
"entity_name": "KIAA1024L",
"entity_type": "gene"
},
{
"created": "2024-04-24T18:26:58.337253+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa1024l has been classified as Green List (High Evidence).",
"entity_name": "KIAA1024L",
"entity_type": "gene"
},
{
"created": "2024-04-24T18:26:53.799073+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIAA1024L as Green List (high evidence)",
"entity_name": "KIAA1024L",
"entity_type": "gene"
},
{
"created": "2024-04-24T18:26:53.786468+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa1024l has been classified as Green List (High Evidence).",
"entity_name": "KIAA1024L",
"entity_type": "gene"
},
{
"created": "2024-04-24T18:24:20.096510+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIAA1024L was added\ngene: KIAA1024L was added to Deafness_IsolatedAndComplex. Sources: Literature\nnew gene name tags were added to gene: KIAA1024L.\nMode of inheritance for gene: KIAA1024L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIAA1024L were set to 35727972\nPhenotypes for gene: KIAA1024L were set to Deafness, autosomal recessive 120, OMIM:620238\nReview for gene: KIAA1024L was set to GREEN\nAdded comment: New gene name - MINAR2\r\n\r\nPMID:35727972 reported 13 patients from four unrelated families with non-syndromic sensorineural hearing loss. Four of these patients had prelingual onset of severe to profound, progressive bilateral hearing loss. The other nine patients had congenital onset of severe to profound bilateral hearing loss, which was not progressive on one patient, while data was not available for the other.\r\n\r\nThree different homozygous variants (c.144G > A/ p.Trp48Ter, c.412_419delCGGTTTTG/ p.Arg138Valfs*10 and c.393G > T/ p.Lys131Asn) were identified in MINAR2/ KIAA1024L gene in these patients.\r\n\r\nThere is some functional evidence available for the p.Lys131Asn variant. In addition, mice with loss of function of the Minar2 protein present with rapidly progressive sensorineural hearing loss. \nSources: Literature",
"entity_name": "KIAA1024L",
"entity_type": "gene"
},
{
"created": "2024-04-24T18:19:29.340718+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1723",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIAA1024L as ready",
"entity_name": "KIAA1024L",
"entity_type": "gene"
},
{
"created": "2024-04-24T18:19:29.329960+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1723",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa1024l has been classified as Green List (High Evidence).",
"entity_name": "KIAA1024L",
"entity_type": "gene"
},
{
"created": "2024-04-24T18:19:09.747526+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1723",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIAA1024L as Green List (high evidence)",
"entity_name": "KIAA1024L",
"entity_type": "gene"
},
{
"created": "2024-04-24T18:19:09.737096+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1723",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa1024l has been classified as Green List (High Evidence).",
"entity_name": "KIAA1024L",
"entity_type": "gene"
},
{
"created": "2024-04-24T18:03:39.028942+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EHBP1L1 were changed from Non-immune hydrops fetalis MONDO:0009369 to Non-immune hydrops fetalis, MONDO:0015193, EHBP1L1-related",
"entity_name": "EHBP1L1",
"entity_type": "gene"
},
{
"created": "2024-04-24T18:03:21.876136+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EHBP1L1 as Green List (high evidence)",
"entity_name": "EHBP1L1",
"entity_type": "gene"
},
{
"created": "2024-04-24T18:03:21.865191+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ehbp1l1 has been classified as Green List (High Evidence).",
"entity_name": "EHBP1L1",
"entity_type": "gene"
},
{
"created": "2024-04-24T18:02:52.251194+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EHBP1L1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Non-immune hydrops fetalis, MONDO:0015193, EHBP1L1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EHBP1L1",
"entity_type": "gene"
},
{
"created": "2024-04-24T18:02:14.924057+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1722",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EHBP1L1 were changed from Non-immune hydrops fetalis, MONDO:0015193, EHBP1l1-related to Non-immune hydrops fetalis, MONDO:0015193, EHBP1L1-related",
"entity_name": "EHBP1L1",
"entity_type": "gene"
},
{
"created": "2024-04-24T18:01:51.938950+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1721",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EHBP1L1 as Green List (high evidence)",
"entity_name": "EHBP1L1",
"entity_type": "gene"
},
{
"created": "2024-04-24T18:01:51.928578+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1721",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ehbp1l1 has been classified as Green List (High Evidence).",
"entity_name": "EHBP1L1",
"entity_type": "gene"
},
{
"created": "2024-04-24T18:01:30.851928+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1720",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EHBP1L1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Non-immune hydrops fetalis, MONDO:0015193, EHBP1L1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EHBP1L1",
"entity_type": "gene"
},
{
"created": "2024-04-24T18:00:37.161087+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EHBP1L1 were changed from Non-immune hydrops fetalis, MONDO:0015193, EHBP1l1-related to Non-immune hydrops fetalis, MONDO:0015193, EHBP1L1-related",
"entity_name": "EHBP1L1",
"entity_type": "gene"
},
{
"created": "2024-04-24T18:00:06.318151+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EHBP1L1 as Green List (high evidence)",
"entity_name": "EHBP1L1",
"entity_type": "gene"
},
{
"created": "2024-04-24T18:00:06.304200+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ehbp1l1 has been classified as Green List (High Evidence).",
"entity_name": "EHBP1L1",
"entity_type": "gene"
},
{
"created": "2024-04-24T17:59:32.548251+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EHBP1L1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Non-immune hydrops fetalis, MONDO:0015193, EHBP1L1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EHBP1L1",
"entity_type": "gene"
},
{
"created": "2024-04-24T15:05:11.699220+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5782",
"user_name": "Ben Lundie",
"item_type": "entity",
"text": "reviewed gene: DMAP1: Rating: AMBER; Mode of pathogenicity: Other; Publications: ; Phenotypes: Unknown.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DMAP1",
"entity_type": "gene"
},
{
"created": "2024-04-24T14:57:51.447088+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed was removed from gene: EFHC1.\nTag refuted tag was added to gene: EFHC1.",
"entity_name": "EFHC1",
"entity_type": "gene"
},
{
"created": "2024-04-24T14:50:41.111750+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCN1A were set to 30368457; 12754708; 25754450; 32928894",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2024-04-24T14:45:34.486829+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2609",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCN1A were set to ",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2024-04-24T14:44:26.173596+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN1B as ready",
"entity_name": "SCN1B",
"entity_type": "gene"
},
{
"created": "2024-04-24T14:44:26.163026+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn1b has been classified as Green List (High Evidence).",
"entity_name": "SCN1B",
"entity_type": "gene"
},
{
"created": "2024-04-24T14:44:18.416851+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCN1B were changed from Developmental and epileptic encephalopathy (MONDO:0100062); generalized epilepsy with febrile seizures plus (MONDO:0018214) to Developmental and epileptic encephalopathy (MONDO:0100062); generalized epilepsy with febrile seizures plus (MONDO:0018214)",
"entity_name": "SCN1B",
"entity_type": "gene"
},
{
"created": "2024-04-24T14:43:29.904512+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2607",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCN1B were changed from to Developmental and epileptic encephalopathy (MONDO:0100062); generalized epilepsy with febrile seizures plus (MONDO:0018214)",
"entity_name": "SCN1B",
"entity_type": "gene"
},
{
"created": "2024-04-24T14:42:49.916018+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCN1B were set to ",
"entity_name": "SCN1B",
"entity_type": "gene"
},
{
"created": "2024-04-24T14:42:11.744788+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2605",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCN1B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SCN1B",
"entity_type": "gene"
},
{
"created": "2024-04-24T14:41:06.044652+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2604",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC12A5 as ready",
"entity_name": "SLC12A5",
"entity_type": "gene"
},
{
"created": "2024-04-24T14:41:06.029271+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2604",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc12a5 has been classified as Green List (High Evidence).",
"entity_name": "SLC12A5",
"entity_type": "gene"
},
{
"created": "2024-04-24T14:41:02.141330+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2604",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC12A5 were changed from Developmental and epileptic encephalopathy 34, MIM# 616645; {Epilepsy, idiopathic generalized, susceptibility to, 14}, MIM# 616685 to Developmental and epileptic encephalopathy 34, MIM# 616645; {Epilepsy, idiopathic generalized, susceptibility to, 14}, MIM# 616685",
"entity_name": "SLC12A5",
"entity_type": "gene"
},
{
"created": "2024-04-24T14:40:25.559855+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2603",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC12A5 were changed from Developmental and epileptic encephalopathy 34, MIM# 616645; {Epilepsy, idiopathic generalized, susceptibility to, 14}, MIM# 616685 to Developmental and epileptic encephalopathy 34, MIM# 616645; {Epilepsy, idiopathic generalized, susceptibility to, 14}, MIM# 616685",
"entity_name": "SLC12A5",
"entity_type": "gene"
},
{
"created": "2024-04-24T14:13:15.853365+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC12A5 were changed from to Developmental and epileptic encephalopathy 34, MIM# 616645; {Epilepsy, idiopathic generalized, susceptibility to, 14}, MIM# 616685",
"entity_name": "SLC12A5",
"entity_type": "gene"
},
{
"created": "2024-04-24T14:12:33.001985+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC12A5 were set to ",
"entity_name": "SLC12A5",
"entity_type": "gene"
},
{
"created": "2024-04-24T14:11:50.965526+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC12A5 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "SLC12A5",
"entity_type": "gene"
},
{
"created": "2024-04-24T14:10:33.098056+10:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALPL as ready",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2024-04-24T14:10:33.087282+10:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alpl has been classified as Green List (High Evidence).",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2024-04-24T14:10:30.354420+10:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALPL were changed from to Hypophosphatasia, adult 146300 (AD, AR); Hypophosphatasia, childhood 241510 AR; Hypophosphatasia, infantile 241500 AR; Odontohypophosphatasia 146300 AD, AR",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2024-04-24T14:09:55.553767+10:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALPL were set to ",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2024-04-24T14:09:15.924271+10:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALPL was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2024-04-24T14:07:35.776816+10:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DST were set to ",
"entity_name": "DST",
"entity_type": "gene"
},
{
"created": "2024-04-24T14:07:13.529672+10:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DST as Green List (high evidence)",
"entity_name": "DST",
"entity_type": "gene"
},
{
"created": "2024-04-24T14:07:13.505259+10:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dst has been classified as Green List (High Evidence).",
"entity_name": "DST",
"entity_type": "gene"
},
{
"created": "2024-04-24T13:02:24.088822+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PSMB9 were changed from Proteasome-associated autoinflammatory syndrome 3, digenic, MIM# 617591 to Proteasome-associated autoinflammatory syndrome 3, digenic, MIM# 617591; Proteasome-associated autoinflammatory syndrome 6, MIM# 620796",
"entity_name": "PSMB9",
"entity_type": "gene"
},
{
"created": "2024-04-24T13:01:43.451398+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PSMB9: Changed phenotypes: Proteasome-associated autoinflammatory syndrome 3, digenic, MIM# 617591, Proteasome-associated autoinflammatory syndrome 6, MIM# 620796",
"entity_name": "PSMB9",
"entity_type": "gene"
},
{
"created": "2024-04-24T13:01:26.714715+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1720",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PSMB9 were changed from Proteasome-associated autoinflammatory syndrome 3, digenic, MIM# 617591 to Proteasome-associated autoinflammatory syndrome 3, digenic, MIM# 617591; Proteasome-associated autoinflammatory syndrome 6, MIM# 620796",
"entity_name": "PSMB9",
"entity_type": "gene"
},
{
"created": "2024-04-24T13:01:01.989466+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1719",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PSMB9: Changed phenotypes: Proteasome-associated autoinflammatory syndrome 3, digenic, MIM# 617591, Proteasome-associated autoinflammatory syndrome 6, MIM# 620796",
"entity_name": "PSMB9",
"entity_type": "gene"
},
{
"created": "2024-04-24T09:44:33.846336+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.41",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "reviewed gene: OTULIN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38630025; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "OTULIN",
"entity_type": "gene"
},
{
"created": "2024-04-23T21:38:22.382312+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5782",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SLC1A1 as Amber List (moderate evidence)",
"entity_name": "SLC1A1",
"entity_type": "gene"
},
{
"created": "2024-04-23T21:38:22.369466+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5782",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: slc1a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC1A1",
"entity_type": "gene"
},
{
"created": "2024-04-23T18:19:34.962877+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.178",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: TCAP.",
"entity_name": "TCAP",
"entity_type": "gene"
},
{
"created": "2024-04-23T18:19:21.398459+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.178",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TCAP as Red List (low evidence)",
"entity_name": "TCAP",
"entity_type": "gene"
},
{
"created": "2024-04-23T18:19:21.393149+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.178",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Now DISPUTED gene-disease association by ClinGen Hereditary Cardiovascular Disease GCEP",
"entity_name": "TCAP",
"entity_type": "gene"
},
{
"created": "2024-04-23T18:19:21.359830+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.178",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tcap has been classified as Red List (Low Evidence).",
"entity_name": "TCAP",
"entity_type": "gene"
},
{
"created": "2024-04-23T16:20:26.839755+10:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.48",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "edited their review of gene: DST: Added comment: Since first family published in 2012, there have been two other families published. This is a green gene in the hereditary neuropathy panel.; Changed rating: GREEN; Changed publications: 30371979, 28468842",
"entity_name": "DST",
"entity_type": "gene"
},
{
"created": "2024-04-23T14:55:23.867376+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PACSIN3 as ready",
"entity_name": "PACSIN3",
"entity_type": "gene"
},
{
"created": "2024-04-23T14:55:23.855390+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pacsin3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PACSIN3",
"entity_type": "gene"
},
{
"created": "2024-04-23T14:55:03.668207+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PACSIN3 as Amber List (moderate evidence)",
"entity_name": "PACSIN3",
"entity_type": "gene"
},
{
"created": "2024-04-23T14:55:03.652696+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pacsin3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PACSIN3",
"entity_type": "gene"
}
]
}