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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1068",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1066",
"results": [
{
"created": "2021-12-30T20:36:01.257307+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1675",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CAD were set to ",
"entity_name": "CAD",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:35:45.612865+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Four unrelated families (two with same variant and Roma background, likely founder). \nSources: Expert list; to: Four unrelated families (two with same variant and Roma background, likely founder). Onset in infancy.\r\nSources: Expert list",
"entity_name": "CAD",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:35:35.271193+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CAD: Changed rating: RED",
"entity_name": "CAD",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:35:00.214683+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1674",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:C4orf26 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-12-30T20:33:57.629142+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1673",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:C2orf71 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-12-30T20:33:36.000179+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:C2orf71 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-12-30T20:32:42.752390+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C2orf71 as ready",
"entity_name": "C2orf71",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:32:42.740283+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c2orf71 has been classified as Green List (High Evidence).",
"entity_name": "C2orf71",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:32:35.283319+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C2orf71 were changed from to Retinitis pigmentosa 54, MIM# 613428",
"entity_name": "C2orf71",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:32:17.506622+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C2orf71 were set to ",
"entity_name": "C2orf71",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:31:56.963705+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: C2orf71 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C2orf71",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:31:38.662781+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C2orf71: Rating: GREEN; Mode of pathogenicity: None; Publications: 20398886, 20398884, 24780881, 31819343, 29946172, 28763557; Phenotypes: Retinitis pigmentosa 54, MIM# 613428; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C2orf71",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:29:26.483279+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1672",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C2orf71 as ready",
"entity_name": "C2orf71",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:29:26.465350+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1672",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c2orf71 has been classified as Red List (Low Evidence).",
"entity_name": "C2orf71",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:28:58.651475+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1672",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C2orf71 were changed from RETINITIS PIGMENTOSA 54 to Retinitis pigmentosa 54, MIM# 613428",
"entity_name": "C2orf71",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:28:44.669203+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1671",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: C2orf71: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C2orf71",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:28:19.368439+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1671",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C2orf71: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 54, MIM# 613428; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "C2orf71",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:06:26.020049+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SH3PXD2B as ready",
"entity_name": "SH3PXD2B",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:06:26.009769+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sh3pxd2b has been classified as Green List (High Evidence).",
"entity_name": "SH3PXD2B",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:06:17.892586+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SH3PXD2B were changed from to Frank-ter Haar syndrome, MIM# 249420",
"entity_name": "SH3PXD2B",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:05:55.687913+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SH3PXD2B were set to ",
"entity_name": "SH3PXD2B",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:05:36.172243+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SH3PXD2B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SH3PXD2B",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:05:16.881183+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SH3PXD2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 24105366, 20137777, 34538861, 33234702, 31978614; Phenotypes: Frank-ter Haar syndrome, MIM# 249420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SH3PXD2B",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:01:29.057313+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1671",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: SETBP1: GoF variants cause Schinzel-Giedion syndrome, a severe multi-system disorder characterized by recognizable facial characteristics, severe-profound intellectual disability, intractable epilepsy, cortical visual impairment, deafness, and congenital anomalies such as cardiac defects, urogenital defects, and bone abnormalities. Causative pathogenic variants are clustered within a 12-base pair hot spot region in exon 4.\r\n\r\nLoF variants cause SETBP1-haploinsufficiency syndrome, characterized by hypotonia and mild motor developmental delay; intellectual abilities ranging from normal to severe disability; speech and language disorder; behavioral problems (most commonly attention/concentration deficits and hyperactivity, impulsivity), and refractive errors and strabismus. Over 40 individuals reviewed in PMID 34807554. This disorder typically presents post-natally.",
"entity_name": "SETBP1",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:00:47.808968+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SETBP1 as ready",
"entity_name": "SETBP1",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:00:47.799831+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: setbp1 has been classified as Green List (High Evidence).",
"entity_name": "SETBP1",
"entity_type": "gene"
},
{
"created": "2021-12-30T20:00:25.316287+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SETBP1 were changed from to Schinzel-Giedion midface retraction syndrome, MIM# 269150; Intellectual disability, autosomal dominant 29, MIM# 616078",
"entity_name": "SETBP1",
"entity_type": "gene"
},
{
"created": "2021-12-30T19:59:43.887110+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SETBP1 were set to ",
"entity_name": "SETBP1",
"entity_type": "gene"
},
{
"created": "2021-12-30T19:59:21.341415+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: GoF variants cause Schinzel-Giedion syndrome, whereas LoF variants cause SETBP1-haploinsufficiency syndrome, over 40 individuals reviewed in PMID 34807554.; to: GoF variants cause Schinzel-Giedion syndrome, a severe multi-system disorder characterized by recognizable facial characteristics, severe-profound intellectual disability, intractable epilepsy, cortical visual impairment, deafness, and congenital anomalies such as cardiac defects, urogenital defects, and bone abnormalities. Causative pathogenic variants are clustered within a 12-base pair hot spot region in exon 4.\r\n\r\nLoF variants cause SETBP1-haploinsufficiency syndrome, characterized by hypotonia and mild motor developmental delay; intellectual abilities ranging from normal to severe disability; speech and language disorder; behavioral problems (most commonly attention/concentration deficits and hyperactivity, impulsivity), and refractive errors and strabismus. Over 40 individuals reviewed in PMID 34807554.",
"entity_name": "SETBP1",
"entity_type": "gene"
},
{
"created": "2021-12-30T19:58:11.566030+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SETBP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SETBP1",
"entity_type": "gene"
},
{
"created": "2021-12-30T19:57:54.350127+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SETBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20436468, 25217958, 34807554; Phenotypes: Schinzel-Giedion midface retraction syndrome, MIM# 269150, Mental retardation, autosomal dominant 29, MIM# 616078; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SETBP1",
"entity_type": "gene"
},
{
"created": "2021-12-30T19:53:15.417271+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1671",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SETBP1 were changed from DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY, MIM#616078; SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME, MIM#269150 to Schinzel-Giedion midface retraction syndrome, MIM# 269150",
"entity_name": "SETBP1",
"entity_type": "gene"
},
{
"created": "2021-12-30T19:53:02.929334+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SETBP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SETBP1",
"entity_type": "gene"
},
{
"created": "2021-12-30T19:52:49.703295+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1669",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SETBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Schinzel-Giedion midface retraction syndrome, MIM# 269150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SETBP1",
"entity_type": "gene"
},
{
"created": "2021-12-30T19:51:59.148929+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1669",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCO2 were changed from Mitochondrial complex IV deficiency, nuclear type 2, MIM#604377; FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY to Mitochondrial complex IV deficiency, nuclear type 2, MIM# 604377",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2021-12-30T19:51:41.310190+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1668",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCO2 were set to 15210538; 18924171",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2021-12-30T19:51:14.108993+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCO2 as Green List (high evidence)",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2021-12-30T19:51:14.082018+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sco2 has been classified as Green List (High Evidence).",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2021-12-30T19:51:03.089451+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1666",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Typically manifests post-natally though rare fetal presentations reported, PMID 15210538.; to: Severe neonatal presentations, and at least two reports of fetal presentations.",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2021-12-30T19:50:24.421611+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1666",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SCO2: Changed publications: 15210538, 18924171, 22231385",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2021-12-30T19:50:09.550893+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1666",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SCO2: Changed rating: GREEN; Changed publications: 15210538, 18924171",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2021-12-30T19:49:24.354878+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1666",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SCO2: Rating: AMBER; Mode of pathogenicity: None; Publications: 15210538; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 2, MIM# 604377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2021-12-30T19:48:37.466943+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN4A as ready",
"entity_name": "SCN4A",
"entity_type": "gene"
},
{
"created": "2021-12-30T19:48:37.451698+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn4a has been classified as Green List (High Evidence).",
"entity_name": "SCN4A",
"entity_type": "gene"
},
{
"created": "2021-12-30T19:48:03.535303+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCN4A were changed from to Hyperkalemic periodic paralysis, type 2, MIM# 170500; Hypokalemic periodic paralysis, type 2, MIM# 613345; Myasthenic syndrome, congenital, 16, MIM# 614198; Myotonia congenita, atypical, acetazolamide-responsive , MIM#608390; Paramyotonia congenita , MIM#168300",
"entity_name": "SCN4A",
"entity_type": "gene"
},
{
"created": "2021-12-30T19:46:39.911801+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCN4A were set to ",
"entity_name": "SCN4A",
"entity_type": "gene"
},
{
"created": "2021-12-30T19:46:02.757785+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCN4A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SCN4A",
"entity_type": "gene"
},
{
"created": "2021-12-30T19:45:45.229248+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 34671263; Phenotypes: Hyperkalemic periodic paralysis, type 2, MIM# 170500, Hypokalemic periodic paralysis, type 2, MIM# 613345, Myasthenic syndrome, congenital, 16, MIM# 614198, Myotonia congenita, atypical, acetazolamide-responsive , MIM#608390, Paramyotonia congenita , MIM#168300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SCN4A",
"entity_type": "gene"
},
{
"created": "2021-12-30T19:04:22.298708+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ING1 were changed from to Squamous cell carcinoma, head and neck, somatic, MIM# 275355",
"entity_name": "ING1",
"entity_type": "gene"
},
{
"created": "2021-12-30T19:04:02.279854+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ING1: Changed phenotypes: Squamous cell carcinoma, head and neck, somatic, MIM# 275355",
"entity_name": "ING1",
"entity_type": "gene"
},
{
"created": "2021-12-30T19:03:47.821279+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ING1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ING1",
"entity_type": "gene"
},
{
"created": "2021-12-30T19:01:58.962999+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1666",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRAP1 as ready",
"entity_name": "TRAP1",
"entity_type": "gene"
},
{
"created": "2021-12-30T19:01:58.946930+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1666",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trap1 has been classified as Green List (High Evidence).",
"entity_name": "TRAP1",
"entity_type": "gene"
},
{
"created": "2021-12-30T19:01:52.241526+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1666",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRAP1 as Green List (high evidence)",
"entity_name": "TRAP1",
"entity_type": "gene"
},
{
"created": "2021-12-30T19:01:52.230197+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1666",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trap1 has been classified as Green List (High Evidence).",
"entity_name": "TRAP1",
"entity_type": "gene"
},
{
"created": "2021-12-30T19:01:40.333118+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1665",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24152966; Phenotypes: CAKUT, VACTERL; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAP1",
"entity_type": "gene"
},
{
"created": "2021-12-30T19:01:08.329774+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRAP1 as ready",
"entity_name": "TRAP1",
"entity_type": "gene"
},
{
"created": "2021-12-30T19:01:08.319752+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trap1 has been classified as Green List (High Evidence).",
"entity_name": "TRAP1",
"entity_type": "gene"
},
{
"created": "2021-12-30T19:01:00.916916+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRAP1 were changed from to CAKUT; VACTERL",
"entity_name": "TRAP1",
"entity_type": "gene"
},
{
"created": "2021-12-30T19:00:42.878689+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRAP1 were set to ",
"entity_name": "TRAP1",
"entity_type": "gene"
},
{
"created": "2021-12-30T19:00:25.027595+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10408",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAP1",
"entity_type": "gene"
},
{
"created": "2021-12-30T19:00:08.800150+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24152966; Phenotypes: CAKUT, VACTERL; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAP1",
"entity_type": "gene"
},
{
"created": "2021-12-30T17:07:58.681362+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1665",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SH3PXD2B as ready",
"entity_name": "SH3PXD2B",
"entity_type": "gene"
},
{
"created": "2021-12-30T17:07:58.672011+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1665",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: sh3pxd2b has been classified as Green List (High Evidence).",
"entity_name": "SH3PXD2B",
"entity_type": "gene"
},
{
"created": "2021-12-30T17:07:50.737261+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1665",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SH3PXD2B were changed from FRANK-TER HAAR SYNDROME to Frank-ter Haar syndrome, MIM#249420",
"entity_name": "SH3PXD2B",
"entity_type": "gene"
},
{
"created": "2021-12-30T17:07:40.336539+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1664",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: SH3PXD2B were set to ",
"entity_name": "SH3PXD2B",
"entity_type": "gene"
},
{
"created": "2021-12-30T17:07:19.827122+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1663",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SH3PXD2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 15523657, 24105366; Phenotypes: Frank-ter Haar syndrome, MIM#249420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SH3PXD2B",
"entity_type": "gene"
},
{
"created": "2021-12-30T17:02:10.231728+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1663",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SETBP1 as ready",
"entity_name": "SETBP1",
"entity_type": "gene"
},
{
"created": "2021-12-30T17:02:10.226491+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1663",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Well established gene disease association with facial and skeletal abnormalities detectable in utero.",
"entity_name": "SETBP1",
"entity_type": "gene"
},
{
"created": "2021-12-30T17:02:10.188870+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1663",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: setbp1 has been classified as Green List (High Evidence).",
"entity_name": "SETBP1",
"entity_type": "gene"
},
{
"created": "2021-12-30T17:01:32.281876+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1663",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: SETBP1 were set to ",
"entity_name": "SETBP1",
"entity_type": "gene"
},
{
"created": "2021-12-30T17:00:37.896570+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1662",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SETBP1 were changed from DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY; SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME to DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY, MIM#616078; SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME, MIM#269150",
"entity_name": "SETBP1",
"entity_type": "gene"
},
{
"created": "2021-12-30T16:55:09.028024+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1661",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SCO2 as ready",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2021-12-30T16:55:09.018192+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1661",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: sco2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2021-12-30T16:54:42.879537+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1661",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SCO2 were changed from FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY to Mitochondrial complex IV deficiency, nuclear type 2, MIM#604377; FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2021-12-30T16:53:45.731151+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1660",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SCO2 as Amber List (moderate evidence)",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2021-12-30T16:53:45.726366+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1660",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Generally severe, rapidly progressive hypertrophic cardiomyopathy that presents in the neonatal period, early spontaneous abortions and fetal wastage described in one family.",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2021-12-30T16:53:45.680381+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1660",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: sco2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2021-12-30T16:52:25.646874+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1659",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: SCO2 were set to 15210538; 18924171",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2021-12-30T16:44:35.607439+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1658",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SCN4A as ready",
"entity_name": "SCN4A",
"entity_type": "gene"
},
{
"created": "2021-12-30T16:44:35.596083+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1658",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: scn4a has been classified as Green List (High Evidence).",
"entity_name": "SCN4A",
"entity_type": "gene"
},
{
"created": "2021-12-30T16:44:29.712186+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1658",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SCN4A were changed from HYPERKALEMIC PERIODIC PARALYSIS TYPE 1; PARAMYOTONIA CONGENITA OF VON EULENBURG; HYPOKALEMIC PERIODIC PARALYSIS to Congenital myopathy; Myasthenic syndrome, congenital, 16 MIM#614198",
"entity_name": "SCN4A",
"entity_type": "gene"
},
{
"created": "2021-12-30T16:44:10.570502+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1657",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: SCN4A were set to ",
"entity_name": "SCN4A",
"entity_type": "gene"
},
{
"created": "2021-12-30T16:43:58.067418+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1656",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCN4A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "SCN4A",
"entity_type": "gene"
},
{
"created": "2021-12-30T16:43:25.108587+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1655",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 26700687; Phenotypes: Congenital myopathy, Myasthenic syndrome, congenital, 16 MIM#614198; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SCN4A",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:48:36.065133+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRWD3 as ready",
"entity_name": "BRWD3",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:48:36.055228+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brwd3 has been classified as Green List (High Evidence).",
"entity_name": "BRWD3",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:48:26.676648+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRWD3 were changed from to Intellectual developmental disorder, X-linked 93, MIM # 300659",
"entity_name": "BRWD3",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:47:59.284580+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BRWD3 were set to ",
"entity_name": "BRWD3",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:47:31.504927+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BRWD3 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "BRWD3",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:47:00.704166+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BRWD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 17668385, 30628072, 24462886; Phenotypes: Intellectual developmental disorder, X-linked 93, MIM # 300659; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "BRWD3",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:46:17.025275+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BRWD3 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "BRWD3",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:45:47.836199+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BRWD3 were set to ",
"entity_name": "BRWD3",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:45:36.309564+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1653",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRWD3 were changed from tellectual developmental disorder, X-linked 93, MIM# 300659 to Intellectual developmental disorder, X-linked 93, MIM# 300659",
"entity_name": "BRWD3",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:44:57.972296+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRWD3 as ready",
"entity_name": "BRWD3",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:44:57.961900+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brwd3 has been classified as Green List (High Evidence).",
"entity_name": "BRWD3",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:44:50.469935+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRWD3 were changed from to Intellectual developmental disorder, X-linked 93, MIM # 300659",
"entity_name": "BRWD3",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:43:58.858851+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BRWD3 were set to ",
"entity_name": "BRWD3",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:43:25.689033+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BRWD3 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "BRWD3",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:43:06.890687+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: More than 10 unrelated families reported, overgrowth, and in particular macrocephaly.; to: More than 10 unrelated families reported with ID, overgrowth, and in particular macrocephaly.",
"entity_name": "BRWD3",
"entity_type": "gene"
}
]
}