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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=690",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=688",
"results": [
{
"created": "2022-11-22T15:59:47.338508+11:00",
"panel_name": "Cerebral amyloid angiopathy",
"panel_id": 3961,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: itm2b has been classified as Green List (High Evidence).",
"entity_name": "ITM2B",
"entity_type": "gene"
},
{
"created": "2022-11-22T15:59:40.202498+11:00",
"panel_name": "Cerebral amyloid angiopathy",
"panel_id": 3961,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ITM2B was added\ngene: ITM2B was added to Cerebral amyloid angiopathy. Sources: Expert list\nMode of inheritance for gene: ITM2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ITM2B were set to 10391242; 10781099; 20385796; 33814452\nPhenotypes for gene: ITM2B were set to Cerebral amyloid angiopathy MONDO:0005620\nMode of pathogenicity for gene: ITM2B was set to Other\nReview for gene: ITM2B was set to GREEN\ngene: ITM2B was marked as current diagnostic\nAdded comment: At least 4 unrelated families with dementia as a prominent feature of the phenotype and stop loss or protein elongating variants, and a supporting mouse model. Variants that result in the generation of peptide, which is deposited as amyloid fibrils causing neuronal disfunction and dementia.\r\nPMID: 10391242 - familial British dementia (FBD) stop loss variant (c.799T>A p.Ter267Arg) in British kindred with progressive dementia, spasticity, and cerebellar ataxia, with onset at around the fifth decade of life.\r\nPMID: 10781099 - familial Danish dementia protein elongating variant (c.787_796dup p.Ser266fs) identified in a large Danish kindred with a dominant disorder characterised by cataracts, deafness, progressive ataxia, and dementia.\r\nPMID: 33814452 - a Chinese patient with dementia, ataxia, deafness, and paraplegia and a heterozygous stop loss variant (p.*267Leuext*11)\r\nClinVar: SCV002059726.1 - likely pathogenic stop loss variant (c.800G>T p.Ter267Leu) similar to the FBD variant reported in an individual affected with ABri amyloidosis by Centogene AG\r\nPMID: 20385796 - mouse model of Danish variant demonstrates amyloid deposition in brain (to a lesser extent in the cerebellum), and increased anxiety. \nSources: Expert list",
"entity_name": "ITM2B",
"entity_type": "gene"
},
{
"created": "2022-11-22T12:31:02.095169+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYCN: Rating: RED; Mode of pathogenicity: None; Publications: 34590686; Phenotypes: cleft lip with or without cleft palate, MONDO:0016034, MYCN-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2022-11-22T12:27:50.372331+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYCN as ready",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2022-11-22T12:27:50.359452+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mycn has been classified as Red List (Low Evidence).",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2022-11-22T12:27:44.339419+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYCN as Red List (low evidence)",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2022-11-22T12:27:44.328407+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mycn has been classified as Red List (Low Evidence).",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2022-11-22T12:01:36.325257+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AFDN as ready",
"entity_name": "AFDN",
"entity_type": "gene"
},
{
"created": "2022-11-22T12:01:36.312285+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: afdn has been classified as Red List (Low Evidence).",
"entity_name": "AFDN",
"entity_type": "gene"
},
{
"created": "2022-11-22T12:01:25.595890+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AFDN was added\ngene: AFDN was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: AFDN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AFDN were set to 36384317\nPhenotypes for gene: AFDN were set to Cleft lip/palate, MONDO:0016044, AFDN-related\nReview for gene: AFDN was set to RED\nAdded comment: Over-representation of rare AFDN missense variants reported in a cohort of CL/P individuals of African and Brazilian origin. However, almost all of the variants reported have hets in gnomad. The one that is novel has alternative missense at the same aa position. \nSources: Literature",
"entity_name": "AFDN",
"entity_type": "gene"
},
{
"created": "2022-11-22T11:59:58.901974+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AFDN as ready",
"entity_name": "AFDN",
"entity_type": "gene"
},
{
"created": "2022-11-22T11:59:58.891072+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: afdn has been classified as Red List (Low Evidence).",
"entity_name": "AFDN",
"entity_type": "gene"
},
{
"created": "2022-11-22T11:59:52.404648+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AFDN was added\ngene: AFDN was added to Clefting disorders. Sources: Literature\nMode of inheritance for gene: AFDN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AFDN were set to 36384317\nPhenotypes for gene: AFDN were set to Cleft lip/palate, MONDO:0016044, AFDN-related\nReview for gene: AFDN was set to RED\nAdded comment: Over-representation of rare AFDN missense variants reported in a cohort of CL/P individuals of African and Brazilian origin. However, almost all of the variants reported have hets in gnomad. The one that is novel has alternative missense at the same aa position. \nSources: Literature",
"entity_name": "AFDN",
"entity_type": "gene"
},
{
"created": "2022-11-22T03:06:34.066724+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.185",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "gene: MYCN was added\ngene: MYCN was added to Clefting disorders. Sources: Literature\nMode of inheritance for gene: MYCN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MYCN were set to 34590686\nPhenotypes for gene: MYCN were set to cleft lip with or without cleft palate, MONDO:0016034\nReview for gene: MYCN was set to RED\nAdded comment: Comment on classification of this gene: This gene has been added with a RED rating to this panel, as identified from one case and supported by functional studies with mouse model.\r\n\r\nOut of the 104 multiplex families with Mendelian non-syndromic cleft lip with or without cleft palate (NSCL/P), a novel pathogenic variant (c.703G>C/ p.A235P) has been identified in MYCN gene from one family. This variant was found in the proband and his affected mother and absent in the unaffected sister, showing co0-segregation with phenotype in this family. \r\n\r\nIn addition, experimental evidence from conditional knockout mouse model showed that these mice displayed cleft palate, microglossia and micrognathia, resembling the Pierre Robin sequence (PRS) in humans. \r\n\r\nThis gene has not yet been associated with clefting either in OMIM or in Gene2Phenotype. \nSources: Literature",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2022-11-21T18:52:18.936124+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1003",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXA2 as ready",
"entity_name": "FOXA2",
"entity_type": "gene"
},
{
"created": "2022-11-21T18:52:18.923051+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1003",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxa2 has been classified as Green List (High Evidence).",
"entity_name": "FOXA2",
"entity_type": "gene"
},
{
"created": "2022-11-21T18:52:14.524215+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1003",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXA2 were changed from Combined pituitary hormone deficiencies, genetic forms, ORPHA:95494; Congenital isolated hyperinsulinism, ORPHA:657 to Hyperinsulinism MONDO:0002177",
"entity_name": "FOXA2",
"entity_type": "gene"
},
{
"created": "2022-11-21T18:51:53.622028+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1002",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FOXA2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "FOXA2",
"entity_type": "gene"
},
{
"created": "2022-11-21T18:51:39.974003+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1001",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FOXA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperinsulinism MONDO:0002177; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXA2",
"entity_type": "gene"
},
{
"created": "2022-11-21T18:50:32.016794+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FOXA2 were set to 29329447; 28973288; 11445544",
"entity_name": "FOXA2",
"entity_type": "gene"
},
{
"created": "2022-11-21T18:50:08.339521+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FOXA2: Added comment: PMID 33999151: two further individuals reported.; Changed publications: 29329447, 28973288, 11445544, 33999151",
"entity_name": "FOXA2",
"entity_type": "gene"
},
{
"created": "2022-11-21T18:47:09.247607+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1001",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXC1 as ready",
"entity_name": "FOXC1",
"entity_type": "gene"
},
{
"created": "2022-11-21T18:47:09.235371+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1001",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxc1 has been classified as Red List (Low Evidence).",
"entity_name": "FOXC1",
"entity_type": "gene"
},
{
"created": "2022-11-21T18:47:03.915603+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1001",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXC1 were changed from Axenfeld-Rieger syndrome to Axenfeld-Rieger syndrome, type 3, MIM# 602482",
"entity_name": "FOXC1",
"entity_type": "gene"
},
{
"created": "2022-11-21T18:46:49.303780+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1000",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FOXC1 as Red List (low evidence)",
"entity_name": "FOXC1",
"entity_type": "gene"
},
{
"created": "2022-11-21T18:46:49.288464+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1000",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxc1 has been classified as Red List (Low Evidence).",
"entity_name": "FOXC1",
"entity_type": "gene"
},
{
"created": "2022-11-21T18:46:38.552084+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.999",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FOXC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Axenfeld-Rieger syndrome, type 3, MIM# 602482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXC1",
"entity_type": "gene"
},
{
"created": "2022-11-21T18:45:06.630985+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.999",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXC2 as ready",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2022-11-21T18:45:06.610888+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.999",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxc2 has been classified as Red List (Low Evidence).",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2022-11-21T18:45:02.590617+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.999",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXC2 were changed from Lymphoedema, primary to Lymphoedema-distichiasis syndrome, MIM# 153400",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2022-11-21T18:44:45.677170+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.998",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FOXC2 as Red List (low evidence)",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2022-11-21T18:44:45.662753+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.998",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxc2 has been classified as Red List (Low Evidence).",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2022-11-21T18:44:26.133380+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FOXC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lymphoedema-distichiasis syndrome, MIM# 153400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2022-11-21T18:42:38.824285+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXF1 as ready",
"entity_name": "FOXF1",
"entity_type": "gene"
},
{
"created": "2022-11-21T18:42:38.812683+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxf1 has been classified as Red List (Low Evidence).",
"entity_name": "FOXF1",
"entity_type": "gene"
},
{
"created": "2022-11-21T18:42:35.688017+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXF1 were changed from Alveolar capillary dysplasia with misalignment of pulmonary veins to Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380",
"entity_name": "FOXF1",
"entity_type": "gene"
},
{
"created": "2022-11-21T18:41:14.664854+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.996",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FOXF1 as Red List (low evidence)",
"entity_name": "FOXF1",
"entity_type": "gene"
},
{
"created": "2022-11-21T18:41:14.653683+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.996",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxf1 has been classified as Red List (Low Evidence).",
"entity_name": "FOXF1",
"entity_type": "gene"
},
{
"created": "2022-11-21T18:41:03.383182+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.995",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FOXF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXF1",
"entity_type": "gene"
},
{
"created": "2022-11-21T18:38:28.604354+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.995",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXI1 as ready",
"entity_name": "FOXI1",
"entity_type": "gene"
},
{
"created": "2022-11-21T18:38:28.588356+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.995",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxi1 has been classified as Red List (Low Evidence).",
"entity_name": "FOXI1",
"entity_type": "gene"
},
{
"created": "2022-11-21T18:38:11.074623+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.995",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXI1 were changed from sensorineural deafness and distal renal tubular acidosis to autosomal recessive distal renal tubular acidosis MONDO:0018440",
"entity_name": "FOXI1",
"entity_type": "gene"
},
{
"created": "2022-11-21T18:37:53.677957+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FOXI1 as Red List (low evidence)",
"entity_name": "FOXI1",
"entity_type": "gene"
},
{
"created": "2022-11-21T18:37:53.660317+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxi1 has been classified as Red List (Low Evidence).",
"entity_name": "FOXI1",
"entity_type": "gene"
},
{
"created": "2022-11-21T18:37:41.573734+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.993",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FOXI1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: autosomal recessive distal renal tubular acidosis MONDO:0018440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FOXI1",
"entity_type": "gene"
},
{
"created": "2022-11-21T18:37:09.765084+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "FOXI1",
"entity_type": "gene"
},
{
"created": "2022-11-21T18:36:54.305120+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FOXI1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: autosomal recessive distal renal tubular acidosis MONDO:0018440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FOXI1",
"entity_type": "gene"
},
{
"created": "2022-11-21T18:32:53.516351+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: FOXP3.",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2022-11-21T18:32:16.162159+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: FOXP3.",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2022-11-21T18:31:56.056213+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: FOXP3.",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2022-11-21T18:31:34.931683+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.993",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXP3 as ready",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2022-11-21T18:31:34.919947+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.993",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxp3 has been classified as Green List (High Evidence).",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2022-11-21T18:31:31.529278+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.993",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXP3 were changed from IPEX syndrome, MIM#304790 to IPEX syndrome, MIM#304790",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2022-11-21T18:31:22.174978+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: FOXP3.",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2022-11-21T18:31:12.498752+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FOXP3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked , MIM#304790; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2022-11-21T17:58:32.307382+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FRAS1 as ready",
"entity_name": "FRAS1",
"entity_type": "gene"
},
{
"created": "2022-11-21T17:58:32.295317+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fras1 has been classified as Red List (Low Evidence).",
"entity_name": "FRAS1",
"entity_type": "gene"
},
{
"created": "2022-11-21T17:58:26.444610+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FRAS1 were changed from Fraser syndrome to Fraser syndrome 1, MIM#219000",
"entity_name": "FRAS1",
"entity_type": "gene"
},
{
"created": "2022-11-21T17:58:11.317760+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FRAS1 as Red List (low evidence)",
"entity_name": "FRAS1",
"entity_type": "gene"
},
{
"created": "2022-11-21T17:58:11.285888+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fras1 has been classified as Red List (Low Evidence).",
"entity_name": "FRAS1",
"entity_type": "gene"
},
{
"created": "2022-11-21T17:57:07.610301+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.990",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FRAS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fraser syndrome 1, MIM#219000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FRAS1",
"entity_type": "gene"
},
{
"created": "2022-11-21T14:40:53.489534+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.990",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLDC as ready",
"entity_name": "GLDC",
"entity_type": "gene"
},
{
"created": "2022-11-21T14:40:53.477548+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.990",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gldc has been classified as Amber List (Moderate Evidence).",
"entity_name": "GLDC",
"entity_type": "gene"
},
{
"created": "2022-11-21T14:39:49.532737+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.990",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLDC were changed from Glycine encephalopathy to Glycine encephalopathy, MIM# 605899",
"entity_name": "GLDC",
"entity_type": "gene"
},
{
"created": "2022-11-21T14:39:38.033563+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.989",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GLDC were set to ",
"entity_name": "GLDC",
"entity_type": "gene"
},
{
"created": "2022-11-21T14:39:17.280554+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.988",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: GLDC.",
"entity_name": "GLDC",
"entity_type": "gene"
},
{
"created": "2022-11-21T14:39:06.218816+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.988",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GLDC as Amber List (moderate evidence)",
"entity_name": "GLDC",
"entity_type": "gene"
},
{
"created": "2022-11-21T14:39:06.204048+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.988",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gldc has been classified as Amber List (Moderate Evidence).",
"entity_name": "GLDC",
"entity_type": "gene"
},
{
"created": "2022-11-21T14:38:52.967298+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GLDC: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycine encephalopathy, MIM# 605899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GLDC",
"entity_type": "gene"
},
{
"created": "2022-11-21T14:37:40.895291+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLB1 as ready",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2022-11-21T14:37:40.878912+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glb1 has been classified as Red List (Low Evidence).",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2022-11-21T14:37:36.508797+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLB1 were changed from Gangliosidosis GM1 to GM1-gangliosidosis, type I MIM#230500; GM1-gangliosidosis, type II MIM# 230600; GM1-gangliosidosis, type III MIM#230650; Mucopolysaccharidosis type IVB (Morquio) MIM#253010",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2022-11-21T14:37:17.108734+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GLB1 were set to ",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2022-11-21T14:37:05.994018+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.985",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GLB1 as Red List (low evidence)",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2022-11-21T14:37:05.977664+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.985",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glb1 has been classified as Red List (Low Evidence).",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2022-11-21T14:36:54.041629+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.984",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GLB1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: GM1-gangliosidosis, type I MIM#230500, GM1-gangliosidosis, type II MIM# 230600, GM1-gangliosidosis, type III MIM#230650, Mucopolysaccharidosis type IVB (Morquio) MIM#253010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2022-11-21T14:34:27.051130+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.984",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: F10 as ready",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2022-11-21T14:34:27.020348+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.984",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: f10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2022-11-21T14:34:21.234497+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.984",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: F10 as Amber List (moderate evidence)",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2022-11-21T14:34:21.208197+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.984",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: f10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2022-11-21T14:34:10.216934+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: F10.",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2022-11-21T14:34:00.312718+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: F10: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor X deficiency, MIM# 227600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2022-11-21T14:31:51.636683+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FTL as ready",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2022-11-21T14:31:51.617719+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ftl has been classified as Red List (Low Evidence).",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2022-11-21T14:31:42.010724+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FTL were changed from Neuroferritinopathy to Neurodegeneration with brain iron accumulation 3, MIM# 606159",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2022-11-21T14:31:29.847868+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.982",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FTL as Red List (low evidence)",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2022-11-21T14:31:29.835463+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.982",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ftl has been classified as Red List (Low Evidence).",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2022-11-21T14:31:17.512074+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.981",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FTL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 3, MIM# 606159; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2022-11-21T14:28:59.769424+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.981",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FXN as ready",
"entity_name": "FXN",
"entity_type": "gene"
},
{
"created": "2022-11-21T14:28:59.756415+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.981",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fxn has been classified as Red List (Low Evidence).",
"entity_name": "FXN",
"entity_type": "gene"
},
{
"created": "2022-11-21T14:28:55.792654+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.981",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FXN were changed from Friedreich ataxia to Friedreich ataxia MONDO:0100339",
"entity_name": "FXN",
"entity_type": "gene"
},
{
"created": "2022-11-21T14:28:43.309997+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.980",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FXN as Red List (low evidence)",
"entity_name": "FXN",
"entity_type": "gene"
},
{
"created": "2022-11-21T14:28:43.297360+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.980",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fxn has been classified as Red List (Low Evidence).",
"entity_name": "FXN",
"entity_type": "gene"
},
{
"created": "2022-11-21T14:28:30.706243+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FXN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Friedreich ataxia MONDO:0100339; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FXN",
"entity_type": "gene"
},
{
"created": "2022-11-21T14:25:08.968969+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EZH2 as ready",
"entity_name": "EZH2",
"entity_type": "gene"
},
{
"created": "2022-11-21T14:25:08.955958+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ezh2 has been classified as Red List (Low Evidence).",
"entity_name": "EZH2",
"entity_type": "gene"
},
{
"created": "2022-11-21T14:24:54.717991+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EZH2 were changed from Weaver syndrome 2 to Weaver syndrome MIM#277590",
"entity_name": "EZH2",
"entity_type": "gene"
},
{
"created": "2022-11-21T14:24:40.496839+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.978",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EZH2 as Red List (low evidence)",
"entity_name": "EZH2",
"entity_type": "gene"
},
{
"created": "2022-11-21T14:24:40.484116+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.978",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ezh2 has been classified as Red List (Low Evidence).",
"entity_name": "EZH2",
"entity_type": "gene"
},
{
"created": "2022-11-21T14:24:28.238222+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.977",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EZH2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Weaver syndrome MIM#277590; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EZH2",
"entity_type": "gene"
}
]
}