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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=320",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=318",
"results": [
{
"created": "2024-12-19T16:09:26.566043+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.836",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: SACS: Rating: GREEN; Mode of pathogenicity: None; Publications: 10655055, 14718706, 12873855]; Phenotypes: Spastic ataxia, Charlevoix-Saguenay type, 270550 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2024-12-19T16:03:20.575245+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.836",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: RTEL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23453664; Phenotypes: Dyskeratosis congenita, autosomal recessive 5, 615190 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2024-12-18T17:11:07.760243+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.836",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "changed review comment from: LCA1 is a congenital eye disorder that primarily affects the retina and causes vision loss, nystagmus, and severe retinal dysfunction. People with this disorder typically have severe visual impairment beginning at birth or shortly afterward. The visual impairment tends to be severe and may worsen over time.\r\n\r\nCone-rod dystrophy 6, MIM #601777 is a dominant condition due to heterozygous mutations in GUCY2D, not reportable for Prepair1000+.\r\nAutosomal recessive GUCY2D mutations may cause congenital night blindness with normal acuity and refraction, and unique electroretinography. Progression to mild retinitis pigmentosa may occur. See PMID: 29559409. Not reportable for Prepair1000+ (severity).; to: LCA1 is a congenital eye disorder that primarily affects the retina and causes vision loss, nystagmus, and severe retinal dysfunction. People with this disorder typically have severe visual impairment beginning at birth or shortly afterward. The visual impairment tends to be severe and may worsen over time.\r\n\r\nCone-rod dystrophy 6, MIM #601777 is a dominant condition due to heterozygous mutations in GUCY2D, not reportable for Prepair1000+. See PMID: 35205358\r\nAutosomal recessive GUCY2D mutations may cause congenital night blindness with normal acuity and refraction, and unique electroretinography. Progression to mild retinitis pigmentosa may occur. See PMID: 29559409. Not reportable for Prepair1000+ (severity).",
"entity_name": "GUCY2D",
"entity_type": "gene"
},
{
"created": "2024-12-18T17:07:35.475318+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.836",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: GUCY2D: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 15024725, 35314386; Phenotypes: Leber congenital amaurosis 1, MIM #204000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GUCY2D",
"entity_type": "gene"
},
{
"created": "2024-12-18T16:48:12.887408+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.836",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: HPS6: Rating: AMBER; Mode of pathogenicity: None; Publications: 12548288, 17041891; Phenotypes: Hermansky-Pudlak syndrome 6, MIM# 614075; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HPS6",
"entity_type": "gene"
},
{
"created": "2024-12-18T15:42:08.133876+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.836",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: GUSB: Rating: GREEN; Mode of pathogenicity: None; Publications: 31661765, 32063397; Phenotypes: Mucopolysaccharidosis VII, MIM# 253220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GUSB",
"entity_type": "gene"
},
{
"created": "2024-12-18T14:28:56.190732+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.836",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23332916, 23332917, 29524657; Phenotypes: Spastic paraplegia 46, autosomal recessive, MIM# 614409; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GBA2",
"entity_type": "gene"
},
{
"created": "2024-12-18T14:15:15.626656+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.836",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: FOXRED1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33613441, 20858599; Phenotypes: Mitochondrial complex I deficiency, nuclear type 19, MIM# 618241; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FOXRED1",
"entity_type": "gene"
},
{
"created": "2024-12-18T11:59:20.179061+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.836",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: FH: Rating: GREEN; Mode of pathogenicity: None; Publications: 8200987, 20549362, 31746132, 20301679; Phenotypes: Fumarase deficiency, MIM# 606812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2024-12-18T11:39:02.431786+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.836",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: FBXL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940506, 23993194; Phenotypes: Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FBXL4",
"entity_type": "gene"
},
{
"created": "2024-12-18T11:08:11.525647+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.836",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: ETFB: Rating: GREEN; Mode of pathogenicity: None; Publications: 7912128, 12815589, 27081516, 12706375, 30626930; Phenotypes: Glutaric acidemia IIB, MIM# 231680; Mode of inheritance: None",
"entity_name": "ETFB",
"entity_type": "gene"
},
{
"created": "2024-12-18T10:53:35.656462+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.836",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: EMD: Rating: GREEN; Mode of pathogenicity: None; Publications: 21697856, 31802929, 31645980; Phenotypes: Emery-Dreifuss muscular dystrophy 1, X-linked, MIM# 310300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2024-12-18T10:38:57.919838+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.836",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: ELP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21937992, 25847581, 32573669, 34653680; Phenotypes: Intellectual developmental disorder, autosomal recessive 58, MIM# 617270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ELP2",
"entity_type": "gene"
},
{
"created": "2024-12-18T10:12:47.914304+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.836",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: DOCK6: Rating: GREEN; Mode of pathogenicity: None; Publications: 21820096, 23522784, 25132448, 25824905; Phenotypes: Adams-Oliver syndrome 2, MIM# 614219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DOCK6",
"entity_type": "gene"
},
{
"created": "2024-12-17T16:27:15.842523+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.836",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: PROP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 2, 262600 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PROP1",
"entity_type": "gene"
},
{
"created": "2024-12-17T15:46:57.985726+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.836",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: DCLRE1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 19953608, 15699179, 12055248, 34220820; Phenotypes: Severe combined immunodeficiency, Athabascan type, MIM# 602450, Omenn syndrome, MIM# 603554; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DCLRE1C",
"entity_type": "gene"
},
{
"created": "2024-12-17T14:20:42.475855+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.836",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: COX10: Rating: GREEN; Mode of pathogenicity: None; Publications: 10767350, 12928484, 15455402, 27290639; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 3, MIM# 619046; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX10",
"entity_type": "gene"
},
{
"created": "2024-12-17T12:46:30.401655+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.155",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: ARHGEF18: Rating: GREEN; Mode of pathogenicity: None; Publications: 28132693, 23698346; Phenotypes: inherited retinal dystrophy MONDO:0019118; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARHGEF18",
"entity_type": "gene"
},
{
"created": "2024-12-17T12:35:26.628903+11:00",
"panel_name": "Congenital Stationary Night Blindness",
"panel_id": 283,
"panel_version": "0.23",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: GNAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: inherited retinal dystrophy MONDO:0019118; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GNAT1",
"entity_type": "gene"
},
{
"created": "2024-12-17T12:35:00.227722+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2218",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: GNAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: inherited retinal dystrophy MONDO:0019118; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GNAT1",
"entity_type": "gene"
},
{
"created": "2024-12-17T12:26:53.450522+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.58",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: PIGF: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008517; Phenotypes: onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome MONDO:0859161; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIGF",
"entity_type": "gene"
},
{
"created": "2024-12-17T12:08:23.890731+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.86",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: SLC2A10: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008487; Phenotypes: arterial tortuosity syndrome MONDO:0008818; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC2A10",
"entity_type": "gene"
},
{
"created": "2024-12-16T18:13:53.285106+11:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NCKAP1L as Green List (high evidence)",
"entity_name": "NCKAP1L",
"entity_type": "gene"
},
{
"created": "2024-12-16T18:13:53.270502+11:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nckap1l has been classified as Green List (High Evidence).",
"entity_name": "NCKAP1L",
"entity_type": "gene"
},
{
"created": "2024-12-16T18:12:10.805857+11:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NCKAP1L was added\ngene: NCKAP1L was added to Autoinflammatory Disorders. Sources: Expert list\nMode of inheritance for gene: NCKAP1L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NCKAP1L were set to 32647003\nPhenotypes for gene: NCKAP1L were set to immunodeficiency 72 with autoinflammation\tMONDO:0033551",
"entity_name": "NCKAP1L",
"entity_type": "gene"
},
{
"created": "2024-12-16T18:02:22.125606+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2218",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ATG4A as ready",
"entity_name": "ATG4A",
"entity_type": "gene"
},
{
"created": "2024-12-16T18:02:22.112513+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2218",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atg4a has been classified as Red List (Low Evidence).",
"entity_name": "ATG4A",
"entity_type": "gene"
},
{
"created": "2024-12-16T18:01:58.729196+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2218",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATG4A was added\ngene: ATG4A was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: ATG4A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: ATG4A were set to 33310865\nPhenotypes for gene: ATG4A were set to infectious meningitis MONDO:0004796\nReview for gene: ATG4A was set to RED\nAdded comment: Single case with recurrent HSV2 lymphocytic Mollaret’s meningitis heterozygous for a missense variant (p.Leu90Ile). \nSources: Expert list",
"entity_name": "ATG4A",
"entity_type": "gene"
},
{
"created": "2024-12-16T17:51:18.315397+11:00",
"panel_name": "Defects of intrinsic and innate immunity",
"panel_id": 231,
"panel_version": "1.19",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel name changed from Defects of innate immunity to Defects of intrinsic and innate immunity",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-12-16T17:48:54.821321+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "1.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ZNFX1 as Green List (high evidence)",
"entity_name": "ZNFX1",
"entity_type": "gene"
},
{
"created": "2024-12-16T17:48:54.810969+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "1.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: znfx1 has been classified as Green List (High Evidence).",
"entity_name": "ZNFX1",
"entity_type": "gene"
},
{
"created": "2024-12-16T17:48:13.650006+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "1.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ZNFX1 was added\ngene: ZNFX1 was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: ZNFX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNFX1 were set to 33872655\nPhenotypes for gene: ZNFX1 were set to immunodeficiency 91 and hyperinflammation MONDO:0030491",
"entity_name": "ZNFX1",
"entity_type": "gene"
},
{
"created": "2024-12-16T17:46:02.788627+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "1.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TLR8 as ready",
"entity_name": "TLR8",
"entity_type": "gene"
},
{
"created": "2024-12-16T17:46:02.772068+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "1.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tlr8 has been classified as Green List (High Evidence).",
"entity_name": "TLR8",
"entity_type": "gene"
},
{
"created": "2024-12-16T17:45:51.095221+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "1.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TLR8 as Green List (high evidence)",
"entity_name": "TLR8",
"entity_type": "gene"
},
{
"created": "2024-12-16T17:45:51.079800+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "1.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tlr8 has been classified as Green List (High Evidence).",
"entity_name": "TLR8",
"entity_type": "gene"
},
{
"created": "2024-12-16T17:45:18.428988+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "1.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TLR8 was added\ngene: TLR8 was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: TLR8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: TLR8 were set to 33512449; 34981838\nPhenotypes for gene: TLR8 were set to Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078\nMode of pathogenicity for gene: TLR8 was set to Other\nReview for gene: TLR8 was set to GREEN\ngene: TLR8 was marked as current diagnostic\nAdded comment: TLR signaling pathway deficiency with bacterial susceptibility. Mainly mosaic and gain of function is mechanism of disease \nSources: Expert list",
"entity_name": "TLR8",
"entity_type": "gene"
},
{
"created": "2024-12-16T17:37:09.789436+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "1.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: POLR3F was added\ngene: POLR3F was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: POLR3F was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: POLR3F were set to 30211253\nPhenotypes for gene: POLR3F were set to Immunodeficiency 101 (varicella zoster virus-specific), MIM# 619872",
"entity_name": "POLR3F",
"entity_type": "gene"
},
{
"created": "2024-12-16T17:35:49.874601+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "1.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: POLR3C as Amber List (moderate evidence)",
"entity_name": "POLR3C",
"entity_type": "gene"
},
{
"created": "2024-12-16T17:35:49.861895+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "1.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: polr3c has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLR3C",
"entity_type": "gene"
},
{
"created": "2024-12-16T17:34:37.305802+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "1.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: POLR3C was added\ngene: POLR3C was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: POLR3C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: POLR3C were set to 28783042\nPhenotypes for gene: POLR3C were set to varicella zoster infection MONDO:0005608",
"entity_name": "POLR3C",
"entity_type": "gene"
},
{
"created": "2024-12-16T17:32:42.987092+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "1.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: POLR3A as Amber List (moderate evidence)",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2024-12-16T17:32:42.973812+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "1.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: polr3a has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2024-12-16T17:31:50.383967+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "1.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: POLR3A was added\ngene: POLR3A was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: POLR3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: POLR3A were set to 28783042; 29728610\nPhenotypes for gene: POLR3A were set to varicella zoster infection MONDO:0005608",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2024-12-16T17:23:45.787251+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "1.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: IRF3 as Amber List (moderate evidence)",
"entity_name": "IRF3",
"entity_type": "gene"
},
{
"created": "2024-12-16T17:23:45.776440+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "1.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: irf3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IRF3",
"entity_type": "gene"
},
{
"created": "2024-12-16T17:21:31.290253+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "1.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IRF3 was added\ngene: IRF3 was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: IRF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IRF3 were set to 26216125; 20660188; 26513235\nPhenotypes for gene: IRF3 were set to encephalitis, acute, infection-induced, susceptibility to MONDO:0800174",
"entity_name": "IRF3",
"entity_type": "gene"
},
{
"created": "2024-12-16T17:14:00.813716+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "1.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: IFNG as ready",
"entity_name": "IFNG",
"entity_type": "gene"
},
{
"created": "2024-12-16T17:14:00.801524+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "1.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ifng has been classified as Amber List (Moderate Evidence).",
"entity_name": "IFNG",
"entity_type": "gene"
},
{
"created": "2024-12-16T17:13:35.988558+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2217",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: IFNG were set to 32163377",
"entity_name": "IFNG",
"entity_type": "gene"
},
{
"created": "2024-12-16T17:13:15.678041+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "1.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: IFNG as Amber List (moderate evidence)",
"entity_name": "IFNG",
"entity_type": "gene"
},
{
"created": "2024-12-16T17:13:15.664895+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "1.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ifng has been classified as Amber List (Moderate Evidence).",
"entity_name": "IFNG",
"entity_type": "gene"
},
{
"created": "2024-12-16T17:13:07.947404+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2216",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: IFNG as Amber List (moderate evidence)",
"entity_name": "IFNG",
"entity_type": "gene"
},
{
"created": "2024-12-16T17:13:07.929396+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2216",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ifng has been classified as Amber List (Moderate Evidence).",
"entity_name": "IFNG",
"entity_type": "gene"
},
{
"created": "2024-12-16T17:12:38.907939+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2215",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: IFNG: Rating: AMBER; Mode of pathogenicity: None; Publications: 32163377, 38363432; Phenotypes: inherited susceptibility to mycobacterial diseases MONDO:0019146; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFNG",
"entity_type": "gene"
},
{
"created": "2024-12-16T17:12:26.088202+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "1.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IFNG was added\ngene: IFNG was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: IFNG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IFNG were set to 32163377; 38363432\nPhenotypes for gene: IFNG were set to inherited susceptibility to mycobacterial diseases MONDO:0019146\nReview for gene: IFNG was set to AMBER\nAdded comment: Now 2 unrelated homozygous cases reported with some supporting functional assays. \nSources: Expert list",
"entity_name": "IFNG",
"entity_type": "gene"
},
{
"created": "2024-12-16T17:00:37.860504+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "1.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: IFNAR2 as Green List (high evidence)",
"entity_name": "IFNAR2",
"entity_type": "gene"
},
{
"created": "2024-12-16T17:00:37.843298+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "1.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ifnar2 has been classified as Green List (High Evidence).",
"entity_name": "IFNAR2",
"entity_type": "gene"
},
{
"created": "2024-12-16T16:59:44.567859+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "1.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IFNAR2 was added\ngene: IFNAR2 was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: IFNAR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IFNAR2 were set to 35442417; 26424569\nPhenotypes for gene: IFNAR2 were set to immunodeficiency 45 MONDO:0014727",
"entity_name": "IFNAR2",
"entity_type": "gene"
},
{
"created": "2024-12-16T16:58:11.222563+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.836",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: PIGO: Rating: GREEN; Mode of pathogenicity: None; Publications: 22683086, 24417746, 27177984, 28337824, 37927489; Phenotypes: Hyperphosphatasia with impaired intellectual development syndrome 2, 614749 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIGO",
"entity_type": "gene"
},
{
"created": "2024-12-16T16:56:46.257534+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.836",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "PIGO",
"entity_type": "gene"
},
{
"created": "2024-12-16T16:56:28.975810+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.836",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: PIGO: Rating: GREEN; Mode of pathogenicity: None; Publications: 22683086, 24417746, 27177984, 28337824, 37927489; Phenotypes: Hyperphosphatasia with impaired intellectual development syndrome 2, 614749 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIGO",
"entity_type": "gene"
},
{
"created": "2024-12-16T16:53:47.304893+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: IFNAR1 as Green List (high evidence)",
"entity_name": "IFNAR1",
"entity_type": "gene"
},
{
"created": "2024-12-16T16:53:47.293503+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ifnar1 has been classified as Green List (High Evidence).",
"entity_name": "IFNAR1",
"entity_type": "gene"
},
{
"created": "2024-12-16T16:51:44.862723+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "1.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IFNAR1 was added\ngene: IFNAR1 was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: IFNAR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IFNAR1 were set to 35442418; 31270247\nPhenotypes for gene: IFNAR1 were set to immunodeficiency 106, susceptibility to viral infections MONDO:0030970\nReview for gene: IFNAR1 was set to GREEN\ngene: IFNAR1 was marked as current diagnostic\nAdded comment: Severe disease caused by Yellow Fever vaccine and Measles vaccine, severe COVID-19. \nSources: Expert list",
"entity_name": "IFNAR1",
"entity_type": "gene"
},
{
"created": "2024-12-16T16:42:43.906750+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-12-16T16:41:04.094658+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "1.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-12-16T16:37:54.859256+11:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "promoted panel to version 2.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-12-16T16:37:08.063599+11:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "1.76",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel name changed from Systemic Autoinflammatory Disease_Periodic Fever to Autoinflammatory Disorders\nList of related panels changed from Fever HP:0001945 to Fever HP:0001945;Systemic autoinflammation HP:0033428",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-12-16T16:28:41.276620+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.836",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: OCLN: Rating: GREEN; Mode of pathogenicity: None; Publications: 20727516; Phenotypes: Pseudo-TORCH syndrome 1, 251290 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OCLN",
"entity_type": "gene"
},
{
"created": "2024-12-16T16:26:55.654492+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.74",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SYK as Green List (high evidence)",
"entity_name": "SYK",
"entity_type": "gene"
},
{
"created": "2024-12-16T16:26:55.639012+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.74",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: syk has been classified as Green List (High Evidence).",
"entity_name": "SYK",
"entity_type": "gene"
},
{
"created": "2024-12-16T16:26:18.643998+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.73",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SYK was added\ngene: SYK was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list\nMode of inheritance for gene: SYK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SYK were set to 33782605\nPhenotypes for gene: SYK were set to immunodeficiency 82 with systemic inflammation\tMONDO:0030308\nMode of pathogenicity for gene: SYK was set to Other",
"entity_name": "SYK",
"entity_type": "gene"
},
{
"created": "2024-12-16T16:18:51.053799+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2215",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: TMEM173 were set to 25401470; 25029335",
"entity_name": "TMEM173",
"entity_type": "gene"
},
{
"created": "2024-12-16T16:16:44.734629+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2214",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMEM173 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TMEM173",
"entity_type": "gene"
},
{
"created": "2024-12-16T16:16:14.746788+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2213",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: TMEM173: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32673614, 36275728; Phenotypes: STING-associated vasculopathy with onset in infancy MONDO:0014405; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "TMEM173",
"entity_type": "gene"
},
{
"created": "2024-12-16T16:15:51.281608+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.72",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: TMEM173 were set to 25401470; 25029335",
"entity_name": "TMEM173",
"entity_type": "gene"
},
{
"created": "2024-12-16T16:14:21.053075+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.71",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMEM173 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TMEM173",
"entity_type": "gene"
},
{
"created": "2024-12-16T16:11:48.508568+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.70",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: TMEM173: Rating: GREEN; Mode of pathogenicity: None; Publications: 32673614, 36275728; Phenotypes: STING-associated vasculopathy with onset in infancy MONDO:0014405; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM173",
"entity_type": "gene"
},
{
"created": "2024-12-16T15:55:54.470483+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.70",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: SH3BP2 was changed from to Other",
"entity_name": "SH3BP2",
"entity_type": "gene"
},
{
"created": "2024-12-16T15:55:23.187087+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.69",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SH3BP2 as Green List (high evidence)",
"entity_name": "SH3BP2",
"entity_type": "gene"
},
{
"created": "2024-12-16T15:55:23.168979+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.69",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sh3bp2 has been classified as Green List (High Evidence).",
"entity_name": "SH3BP2",
"entity_type": "gene"
},
{
"created": "2024-12-16T15:54:45.230329+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.68",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: SH3BP2 were set to 26152156; 25705883; 25470448; 25220465",
"entity_name": "SH3BP2",
"entity_type": "gene"
},
{
"created": "2024-12-16T15:54:04.176983+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.67",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: SH3BP2: Added comment: Cherubism is an autoinflammatory bone disorder caused by heterozygous gain of function variants mainly clustered within the peptide sequence RSPPDG lying between the PH and SH2 domains.; Changed mode of pathogenicity: Other; Changed phenotypes: Cherubism MONDO:0007315",
"entity_name": "SH3BP2",
"entity_type": "gene"
},
{
"created": "2024-12-16T15:50:51.257970+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.67",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: SH3BP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301316; Phenotypes: herubism MONDO:0007315; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SH3BP2",
"entity_type": "gene"
},
{
"created": "2024-12-16T15:45:15.630483+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.67",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: RIPK1 as ready",
"entity_name": "RIPK1",
"entity_type": "gene"
},
{
"created": "2024-12-16T15:45:15.622079+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.67",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ripk1 has been classified as Green List (High Evidence).",
"entity_name": "RIPK1",
"entity_type": "gene"
},
{
"created": "2024-12-16T15:42:47.704712+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.67",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RIPK1 as Green List (high evidence)",
"entity_name": "RIPK1",
"entity_type": "gene"
},
{
"created": "2024-12-16T15:42:47.684097+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.67",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ripk1 has been classified as Green List (High Evidence).",
"entity_name": "RIPK1",
"entity_type": "gene"
},
{
"created": "2024-12-16T15:41:55.750284+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.66",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RIPK1 was added\ngene: RIPK1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list\nMode of inheritance for gene: RIPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RIPK1 were set to 31827280; 31827281\nPhenotypes for gene: RIPK1 were set to autoinflammation with episodic fever and lymphadenopathy MONDO:0030018\nMode of pathogenicity for gene: RIPK1 was set to Other\nReview for gene: RIPK1 was set to GREEN\ngene: RIPK1 was marked as current diagnostic\nAdded comment: Variants involving residue D324 impair caspase-8-mediated cleavage of RIPK1 and lead to RIPK1 activation. At least 5 families reported with D324N/H/Y and a supporting mouse model. \nSources: Expert list",
"entity_name": "RIPK1",
"entity_type": "gene"
},
{
"created": "2024-12-16T15:14:46.574256+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.65",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PSMD12 as Green List (high evidence)",
"entity_name": "PSMD12",
"entity_type": "gene"
},
{
"created": "2024-12-16T15:14:46.557116+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.65",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: psmd12 has been classified as Green List (High Evidence).",
"entity_name": "PSMD12",
"entity_type": "gene"
},
{
"created": "2024-12-16T15:13:26.690139+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.64",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PSMD12 was added\ngene: PSMD12 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list\nMode of inheritance for gene: PSMD12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PSMD12 were set to 39641441; 35080150; 34906456\nPhenotypes for gene: PSMD12 were set to Stankiewicz-Isidor syndrome\tMONDO:0054591\nReview for gene: PSMD12 was set to GREEN\nAdded comment: STISS cases exhibit high type I IFN scores in peripheral blood-derived immune cells, however only rarely develop typical clinical signs of autoinflammation, including skin lesions and recurrent fever. Proteasome-associated autoinflammatory syndrome (PRAAS) is typically caused by pathogenic variants in components of the proteasome and activation of the type I IFN pathway. Developmental delay is the main feature of STISS and the autoinflammation is subclinical. \nSources: Expert list",
"entity_name": "PSMD12",
"entity_type": "gene"
},
{
"created": "2024-12-16T14:45:42.838993+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2213",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GTF3A as ready",
"entity_name": "GTF3A",
"entity_type": "gene"
},
{
"created": "2024-12-16T14:45:42.818082+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2213",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gtf3a has been classified as Red List (Low Evidence).",
"entity_name": "GTF3A",
"entity_type": "gene"
},
{
"created": "2024-12-16T14:44:29.553540+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.63",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: POMP as Green List (high evidence)",
"entity_name": "POMP",
"entity_type": "gene"
},
{
"created": "2024-12-16T14:44:29.542020+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.63",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pomp has been classified as Green List (High Evidence).",
"entity_name": "POMP",
"entity_type": "gene"
},
{
"created": "2024-12-16T14:43:58.884900+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2213",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GTF3A was added\ngene: GTF3A was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: GTF3A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GTF3A were set to 36399538\nPhenotypes for gene: GTF3A were set to herpes simplex encephalitis MONDO:0012521\nReview for gene: GTF3A was set to RED\nAdded comment: A single case is reported with common variable immunodeficiency and HSE, and some supporting functional assays. \nSources: Expert list",
"entity_name": "GTF3A",
"entity_type": "gene"
},
{
"created": "2024-12-16T14:43:10.138087+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.62",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: POMP was added\ngene: POMP was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list\nMode of inheritance for gene: POMP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: POMP were set to 29805043\nPhenotypes for gene: POMP were set to proteasome-associated autoinflammatory syndrome 2 MONDO:0054700",
"entity_name": "POMP",
"entity_type": "gene"
},
{
"created": "2024-12-16T14:37:00.813519+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.61",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: LYN as Green List (high evidence)",
"entity_name": "LYN",
"entity_type": "gene"
}
]
}