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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=692",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=690",
"results": [
{
"created": "2022-11-18T16:50:17.454525+11:00",
"panel_name": "Cerebral amyloid angiopathy",
"panel_id": 3961,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CST3 as Green List (high evidence)",
"entity_name": "CST3",
"entity_type": "gene"
},
{
"created": "2022-11-18T16:50:17.442121+11:00",
"panel_name": "Cerebral amyloid angiopathy",
"panel_id": 3961,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cst3 has been classified as Green List (High Evidence).",
"entity_name": "CST3",
"entity_type": "gene"
},
{
"created": "2022-11-18T16:50:10.217930+11:00",
"panel_name": "Cerebral amyloid angiopathy",
"panel_id": 3961,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CST3 was added\ngene: CST3 was added to Cerebral amyloid angiopathy. Sources: Expert list\nMode of inheritance for gene: CST3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CST3 were set to 22435454; 8866434; 2602413; 8108423\nPhenotypes for gene: CST3 were set to Cerebral amyloid angiopathy MIM#105150\nMode of pathogenicity for gene: CST3 was set to Other\nReview for gene: CST3 was set to GREEN\nAdded comment: A single missense variant L68Q causes Icelandic-type CAA, where brain haemorrhage is main presenting feature of the condition. Progressive multi-infarct dementia has been reported in at least 17 cases. Dementia has been reported as the presenting feature in 2 cases from the same family. The gene has also been reported as an Alzheimer's disease susceptibility loci, but there is modest risk associated with the homozygote (rs1064039) minor allele genotype, combined OR 1.6. \nSources: Expert list",
"entity_name": "CST3",
"entity_type": "gene"
},
{
"created": "2022-11-18T16:47:13.261281+11:00",
"panel_name": "Cerebral amyloid angiopathy",
"panel_id": 3961,
"panel_version": "0.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: APP as ready",
"entity_name": "APP",
"entity_type": "gene"
},
{
"created": "2022-11-18T16:47:13.245840+11:00",
"panel_name": "Cerebral amyloid angiopathy",
"panel_id": 3961,
"panel_version": "0.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: app has been classified as Green List (High Evidence).",
"entity_name": "APP",
"entity_type": "gene"
},
{
"created": "2022-11-18T16:47:02.452270+11:00",
"panel_name": "Cerebral amyloid angiopathy",
"panel_id": 3961,
"panel_version": "0.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: APP as Green List (high evidence)",
"entity_name": "APP",
"entity_type": "gene"
},
{
"created": "2022-11-18T16:47:02.439922+11:00",
"panel_name": "Cerebral amyloid angiopathy",
"panel_id": 3961,
"panel_version": "0.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: app has been classified as Green List (High Evidence).",
"entity_name": "APP",
"entity_type": "gene"
},
{
"created": "2022-11-18T16:46:53.261637+11:00",
"panel_name": "Cerebral amyloid angiopathy",
"panel_id": 3961,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: APP was added\ngene: APP was added to Cerebral amyloid angiopathy. Sources: Expert list\nMode of inheritance for gene: APP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: APP were set to 16178030; 11409420; 16612981; 19225789\nPhenotypes for gene: APP were set to Cerebral amyloid angiopathy, APP-related MONDO:0011583\nMode of pathogenicity for gene: APP was set to Other\nReview for gene: APP was set to GREEN\ngene: APP was marked as current diagnostic\nAdded comment: Well-established cause of cerebral amyloid angiopathy. Loss of function is not the mechanism of disease. Disease-causing missense substitutions cause an increased accumulation of amyloid-beta protein in the walls of the arteries and capillaries of the meninges, cerebellar cortex and cerebral cortex, leading to the weakening and eventual rupture of these vessels. \nSources: Expert list",
"entity_name": "APP",
"entity_type": "gene"
},
{
"created": "2022-11-18T15:15:55.691782+11:00",
"panel_name": "Cerebral amyloid angiopathy",
"panel_id": 3961,
"panel_version": "0.1",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "List of related panels changed from to Cerebral amyloid angiopathy; HP:0011970",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-11-18T15:15:21.565011+11:00",
"panel_name": "Cerebral amyloid angiopathy",
"panel_id": 3961,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added Panel Cerebral amyloid angiopathy\nSet panel types to: Royal Melbourne Hospital",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-11-17T16:28:27.914491+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLEC3B as ready",
"entity_name": "CLEC3B",
"entity_type": "gene"
},
{
"created": "2022-11-17T16:28:27.906428+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clec3b has been classified as Green List (High Evidence).",
"entity_name": "CLEC3B",
"entity_type": "gene"
},
{
"created": "2022-11-17T16:28:14.511488+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLEC3B as Green List (high evidence)",
"entity_name": "CLEC3B",
"entity_type": "gene"
},
{
"created": "2022-11-17T16:28:14.497428+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clec3b has been classified as Green List (High Evidence).",
"entity_name": "CLEC3B",
"entity_type": "gene"
},
{
"created": "2022-11-17T16:27:21.591702+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.477",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: CLEC3B.",
"entity_name": "CLEC3B",
"entity_type": "gene"
},
{
"created": "2022-11-17T16:27:00.990180+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLEC3B as ready",
"entity_name": "CLEC3B",
"entity_type": "gene"
},
{
"created": "2022-11-17T16:27:00.982303+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clec3b has been classified as Green List (High Evidence).",
"entity_name": "CLEC3B",
"entity_type": "gene"
},
{
"created": "2022-11-17T16:26:56.091674+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: CLEC3B.",
"entity_name": "CLEC3B",
"entity_type": "gene"
},
{
"created": "2022-11-17T12:12:17.427114+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5029",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TBC1D2B as Green List (high evidence)",
"entity_name": "TBC1D2B",
"entity_type": "gene"
},
{
"created": "2022-11-17T12:12:17.418667+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5029",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: tbc1d2b has been classified as Green List (High Evidence).",
"entity_name": "TBC1D2B",
"entity_type": "gene"
},
{
"created": "2022-11-17T12:11:37.775989+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5028",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: TBC1D2B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36029130; Phenotypes: Neurodevelopmental disorder with seizures and gingival overgrowth, OMIM #619323; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBC1D2B",
"entity_type": "gene"
},
{
"created": "2022-11-17T12:04:09.912807+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.477",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: CLEC3B was added\ngene: CLEC3B was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CLEC3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CLEC3B were set to PMID: 35331648\nPhenotypes for gene: CLEC3B were set to Macular dystrophy, retinal, 4, OMIM #619977\nReview for gene: CLEC3B was set to GREEN\nAdded comment: 12 affected individuals from 5 multigenerational Japanese families in a small village in Miyazaki diagnosed with autosomal dominant maculoretinopathy. WES identified a pathogenic variant (p.Ala180Asp) in CLEC3B, which encodes tetranectin, a plasminogen kringle-4 binding protein. Variant cosegregated with the ocular phenotype.\r\n\r\nMice that received subretinal injections with CLEC3B variant displayed multiple subretinal hyperreflective deposits, reduced retinal thickness, and decreased electroretinographic responses. The optokinetic tracking response indicated that spatial frequency was significantly lower (P < .05), implying impaired visual function in the mice. \nSources: Literature",
"entity_name": "CLEC3B",
"entity_type": "gene"
},
{
"created": "2022-11-17T12:02:49.337039+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.476",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "edited their review of gene: PDIA6: Added comment: 2nd patient with large polycystic kidneys, death and end stage renal failure at 18 months, microcephaly, bilateral inguinal hernias, umbilical hernia, developmental delay, bilateral sensorineural hearing loss, visual impairment, steatorrhea, fibrotic changes in liver, and insulin-dependent diabetes. WGS found homozygous stop-gain variant (Tyr368*) in PDIA6. Segregation not performed.; Changed rating: AMBER; Changed publications: PMID: 35856135; Changed phenotypes: Polycystic kidney disease, infancy-onset diabetes, and microcephaly",
"entity_name": "PDIA6",
"entity_type": "gene"
},
{
"created": "2022-11-17T11:57:28.529750+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.13",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "edited their review of gene: PDIA6: Added comment: 2nd patient with large polycystic kidneys, death and end stage renal failure at 18 months, microcephaly, bilateral inguinal hernias, umbilical hernia, developmental delay, bilateral sensorineural hearing loss, visual impairment, steatorrhea, fibrotic changes in liver, and insulin-dependent diabetes. WGS found homozygous stop-gain variant (Tyr368*) in PDIA6. Segregation not performed.; Changed rating: AMBER; Changed publications: PMID: 35856135; Changed phenotypes: Polycystic kidney disease, infancy-onset diabetes, and microcephaly",
"entity_name": "PDIA6",
"entity_type": "gene"
},
{
"created": "2022-11-17T11:52:07.783346+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.76",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: PDIA6: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 35856135; Phenotypes: Polycystic kidney disease, infancy-onset diabetes, and microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDIA6",
"entity_type": "gene"
},
{
"created": "2022-11-17T11:51:40.157476+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.32",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "edited their review of gene: PDIA6: Added comment: 2nd patient with large polycystic kidneys, death and end stage renal failure at 18 months, microcephaly, bilateral inguinal hernias, umbilical hernia, developmental delay, bilateral sensorineural hearing loss, visual impairment, steatorrhea, fibrotic changes in liver, and insulin-dependent diabetes. WGS found homozygous stop-gain variant (Tyr368*) in PDIA6. Segregation not performed.; Changed rating: AMBER; Changed publications: PMID: 35856135; Changed phenotypes: Polycystic kidney disease, infancy-onset diabetes, and microcephaly",
"entity_name": "PDIA6",
"entity_type": "gene"
},
{
"created": "2022-11-17T11:51:02.550322+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.37",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: PDIA6: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 35856135; Phenotypes: Polycystic kidney disease, infancy-onset diabetes, and microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDIA6",
"entity_type": "gene"
},
{
"created": "2022-11-17T11:07:48.016357+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.40",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: CLEC3B as Green List (high evidence)",
"entity_name": "CLEC3B",
"entity_type": "gene"
},
{
"created": "2022-11-17T11:07:48.007274+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.40",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: clec3b has been classified as Green List (High Evidence).",
"entity_name": "CLEC3B",
"entity_type": "gene"
},
{
"created": "2022-11-17T11:07:40.368924+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.39",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: CLEC3B was added\ngene: CLEC3B was added to Macular Dystrophy/Stargardt Disease. Sources: Literature\nMode of inheritance for gene: CLEC3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CLEC3B were set to PMID: 35331648\nPhenotypes for gene: CLEC3B were set to Macular dystrophy, retinal, 4, OMIM #619977\nReview for gene: CLEC3B was set to GREEN\nAdded comment: 12 affected individuals from 5 multigenerational Japanese families in a small village in Miyazaki diagnosed with autosomal dominant maculoretinopathy. WES identified a pathogenic variant (p.Ala180Asp) in CLEC3B, which encodes tetranectin, a plasminogen kringle-4 binding protein. Variant cosegregated with the ocular phenotype. \r\n\r\nMice that received subretinal injections with CLEC3B variant displayed multiple subretinal hyperreflective deposits, reduced retinal thickness, and decreased electroretinographic responses. The optokinetic tracking response indicated that spatial frequency was significantly lower (P < .05), implying impaired visual function in the mice. \nSources: Literature",
"entity_name": "CLEC3B",
"entity_type": "gene"
},
{
"created": "2022-11-17T09:02:10.402483+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.950",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EPS8 as ready",
"entity_name": "EPS8",
"entity_type": "gene"
},
{
"created": "2022-11-17T09:02:10.391711+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.950",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eps8 has been classified as Green List (High Evidence).",
"entity_name": "EPS8",
"entity_type": "gene"
},
{
"created": "2022-11-17T09:02:06.580059+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.950",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EPS8 were changed from deafness MIM#600205 to Autosomal recessive nonsyndromic hearing loss 102, MIM#600205, MONDO:0014428",
"entity_name": "EPS8",
"entity_type": "gene"
},
{
"created": "2022-11-17T09:01:27.639549+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.949",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EPS8: Changed rating: GREEN",
"entity_name": "EPS8",
"entity_type": "gene"
},
{
"created": "2022-11-17T09:01:20.177587+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.949",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EPS8: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Autosomal recessive nonsyndromic hearing loss 102, MIM# MONDO:0014428; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EPS8",
"entity_type": "gene"
},
{
"created": "2022-11-17T08:59:45.508200+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.949",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EPM2A as ready",
"entity_name": "EPM2A",
"entity_type": "gene"
},
{
"created": "2022-11-17T08:59:45.499703+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.949",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: epm2a has been classified as Red List (Low Evidence).",
"entity_name": "EPM2A",
"entity_type": "gene"
},
{
"created": "2022-11-17T08:59:42.509344+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.949",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EPM2A were changed from Epilepsy, progressive myoclonic 2A (Lafora) to Lafora disease MONDO:0009697",
"entity_name": "EPM2A",
"entity_type": "gene"
},
{
"created": "2022-11-17T08:59:29.532320+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.948",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EPM2A as Red List (low evidence)",
"entity_name": "EPM2A",
"entity_type": "gene"
},
{
"created": "2022-11-17T08:59:29.504203+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.948",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: epm2a has been classified as Red List (Low Evidence).",
"entity_name": "EPM2A",
"entity_type": "gene"
},
{
"created": "2022-11-17T08:59:18.559015+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.947",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EPM2A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lafora disease MONDO:0009697; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EPM2A",
"entity_type": "gene"
},
{
"created": "2022-11-17T08:57:26.600831+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.947",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ENPP1 as ready",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2022-11-17T08:57:26.581400+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.947",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: enpp1 has been classified as Green List (High Evidence).",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2022-11-17T08:57:23.376362+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.947",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ENPP1 were changed from Arterial calcification, generalized, of infancy, 1 to Arterial calcification, generalized, of infancy, 1, MIM# 208000; Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2022-11-17T08:57:02.261334+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Bi-allelic variants:\r\nGACI: well established gene-disease association, multiple families and mouse models.\r\n\r\nHypophosphataemic rickets: multiple families reported, some with features of GACI.\r\n\r\nReported variants are spread throughout the phosphodiesterase catalytic domain and nuclease-like domain. No genotype-phenotype correlation, variability even within the same family. These likely represent a spectrum of a single disorder, rather than two distinct disorders.\r\n\r\nShould be able to distinguish clinically.\r\n\r\nTreatment: etidronate, anti-hypertensive, calcitriol and oral phosphate supplements; to: Bi-allelic variants:\r\nGACI: well established gene-disease association, multiple families and mouse models.\r\n\r\nHypophosphataemic rickets: multiple families reported, some with features of GACI.\r\n\r\nReported variants are spread throughout the phosphodiesterase catalytic domain and nuclease-like domain. No genotype-phenotype correlation, variability even within the same family. These likely represent a spectrum of a single disorder, rather than two distinct disorders.\r\n\r\nShould be able to distinguish clinically.\r\n\r\nOnset is congenital/early infancy.\r\n\r\nTreatment: etidronate, anti-hypertensive, calcitriol and oral phosphate supplements",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2022-11-17T08:56:35.170772+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ENPP1.",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2022-11-17T08:56:24.975847+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ENPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arterial calcification, generalized, of infancy, 1, MIM# 208000, Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:52:59.530537+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARPC4 were changed from Microcephaly; mild motor delays; significant speech impairment to Neurodevelopmental disorder, ARPC4-related MONDO#0700092",
"entity_name": "ARPC4",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:52:22.670887+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARPC4 as ready",
"entity_name": "ARPC4",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:52:22.660842+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arpc4 has been classified as Green List (High Evidence).",
"entity_name": "ARPC4",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:52:18.995083+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARPC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 35047857; Phenotypes: Neurodevelopmental disorder, ARPC4-related MONDO#0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ARPC4",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:52:04.501687+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARPC4 were changed from Microcephaly; mild motor delays; significant speech impairment to Neurodevelopmental disorder, ARPC4-related MONDO#0700092",
"entity_name": "ARPC4",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:51:32.132587+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARPC4 were set to DOI:https://doi.org/10.1016/j.xhgg.2021.100072",
"entity_name": "ARPC4",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:51:04.732678+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ARPC4: Changed publications: 35047857",
"entity_name": "ARPC4",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:50:31.885103+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARPC4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, ARPC4-related MONDO#0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ARPC4",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:46:58.532060+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDGFRB were set to 31004414; 30979360; 32613555; 34494111",
"entity_name": "PDGFRB",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:46:26.453391+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDGFRB were changed from Basal ganglia calcification, idiopathic, 4, MIM# 615007 to Basal ganglia calcification, idiopathic, 4, MIM# 615007; MONDO:0014004",
"entity_name": "PDGFRB",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:45:59.379925+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDGFRB were set to 31004414; 30979360; 32613555",
"entity_name": "PDGFRB",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:44:35.520492+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TTC7A as ready",
"entity_name": "TTC7A",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:44:35.511540+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttc7a has been classified as Amber List (Moderate Evidence).",
"entity_name": "TTC7A",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:44:30.901551+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TTC7A were set to ",
"entity_name": "TTC7A",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:44:12.720599+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.945",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TTC7A as Amber List (moderate evidence)",
"entity_name": "TTC7A",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:44:12.712030+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.945",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttc7a has been classified as Amber List (Moderate Evidence).",
"entity_name": "TTC7A",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:44:03.467791+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: TTC7A.",
"entity_name": "TTC7A",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:43:30.198674+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TTC37 as ready",
"entity_name": "TTC37",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:43:30.190727+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttc37 has been classified as Red List (Low Evidence).",
"entity_name": "TTC37",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:43:25.989077+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TTC37 were changed from Trichohepatoenteric syndrome to Trichohepatoenteric syndrome 1, MIM#222470",
"entity_name": "TTC37",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:43:02.105570+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TTC37 were set to ",
"entity_name": "TTC37",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:42:48.026473+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.942",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TTC37 as Red List (low evidence)",
"entity_name": "TTC37",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:42:48.015487+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.942",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttc37 has been classified as Red List (Low Evidence).",
"entity_name": "TTC37",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:42:18.393992+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.941",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TTC21B as ready",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:42:18.381055+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.941",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttc21b has been classified as Red List (Low Evidence).",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:42:08.335388+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.941",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TTC21B were set to 25492405; 33875766; 18327258; 21258341",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:41:50.494542+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TTC21B was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:41:37.465151+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.939",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TTC21B as Red List (low evidence)",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:41:37.454985+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.939",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttc21b has been classified as Red List (Low Evidence).",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:41:08.260253+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.938",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSR2 as ready",
"entity_name": "TSR2",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:41:08.242520+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.938",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tsr2 has been classified as Red List (Low Evidence).",
"entity_name": "TSR2",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:41:00.678798+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.938",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TSR2 were set to ",
"entity_name": "TSR2",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:40:45.472700+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.937",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TSR2 as Red List (low evidence)",
"entity_name": "TSR2",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:40:45.463658+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.937",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tsr2 has been classified as Red List (Low Evidence).",
"entity_name": "TSR2",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:40:17.575755+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.936",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSHR as ready",
"entity_name": "TSHR",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:40:17.566964+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.936",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tshr has been classified as Green List (High Evidence).",
"entity_name": "TSHR",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:40:09.471068+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.936",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TSHR were changed from Hypothyroidism to Hypothyroidism, congenital, nongoitrous, 1 - MIM#275200",
"entity_name": "TSHR",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:39:48.516170+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.935",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TSHR were set to ",
"entity_name": "TSHR",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:39:30.241054+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.934",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TSHR was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TSHR",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:39:20.735804+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.933",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: TSHR.",
"entity_name": "TSHR",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:38:44.919866+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.933",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSHB as ready",
"entity_name": "TSHB",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:38:44.912080+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.933",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tshb has been classified as Green List (High Evidence).",
"entity_name": "TSHB",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:38:41.547368+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.933",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TSHB were changed from Hypothryoidism, congenital, nongoitrous 4 to Hypothyroidism, congenital, nongoitrous 4, MIM#275100",
"entity_name": "TSHB",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:38:27.753776+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TSHB were set to ",
"entity_name": "TSHB",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:38:09.067296+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.931",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: TSHB.",
"entity_name": "TSHB",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:37:45.320469+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.931",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSEN54 as ready",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:37:45.312753+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.931",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tsen54 has been classified as Red List (Low Evidence).",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:37:39.661543+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.931",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TSEN54 were changed from Pontocerebellar hypoplasia type 4 to Pontocerebellar hypoplasia type 2A MIM#277470",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:37:28.559928+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TSEN54 were set to ",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:37:11.045738+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.929",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TSEN54 as Red List (low evidence)",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:37:11.037211+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.929",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tsen54 has been classified as Red List (Low Evidence).",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:35:52.950438+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSC2 as ready",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:35:52.932128+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tsc2 has been classified as Green List (High Evidence).",
"entity_name": "TSC2",
"entity_type": "gene"
}
]
}