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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=420",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=418",
"results": [
{
"created": "2024-07-25T11:37:15.039390+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DIS3L2 as ready",
"entity_name": "DIS3L2",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:37:15.019210+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dis3l2 has been classified as Green List (High Evidence).",
"entity_name": "DIS3L2",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:36:55.800505+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DIS3L2 were changed from Perlman syndrome, 267000 (3) to Perlman syndrome MIM# 267000",
"entity_name": "DIS3L2",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:36:49.117175+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.18",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: ABHD5 were set to ",
"entity_name": "ABHD5",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:36:36.496069+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DIS3L2 were set to ",
"entity_name": "DIS3L2",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:35:25.303479+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GFM1 as ready",
"entity_name": "GFM1",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:35:25.290146+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gfm1 has been classified as Green List (High Evidence).",
"entity_name": "GFM1",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:31:37.154126+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.16",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.\r\nOnset at birth with death within first months of life\r\nNo treatment available\r\n\r\nNon-genetic confirmatory test: - Fibroblasts show decreased activity of mitochondrial respiratory complex I, complex III, complex IV, and complex V\r\n\r\nDetection on NBS would establish diagnosis early and allow palliative treatment; to: Well established gene-disease association.\r\nOnset at birth with death within first months of life\r\nNo treatment available\r\n\r\nNon-genetic confirmatory test: - Fibroblasts show decreased activity of mitochondrial respiratory complex I, complex III, complex IV, and complex V\r\n",
"entity_name": "GFM1",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:30:02.439712+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.16",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: ABCB7 as ready",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:30:02.424870+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.16",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: abcb7 has been classified as Green List (High Evidence).",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:29:37.700340+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.16",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: ABCB7 were changed from Anemia, sideroblastic, with ataxia, 301310 (3) to Anemia, sideroblastic, with ataxia, MIM# 301310",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:28:38.270690+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.15",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: ABCB7 were set to ",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:25:47.957025+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.14",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: ABCA12 as ready",
"entity_name": "ABCA12",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:25:47.938557+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.14",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: abca12 has been classified as Green List (High Evidence).",
"entity_name": "ABCA12",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:25:24.447895+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HPGD as ready",
"entity_name": "HPGD",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:25:24.428054+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hpgd has been classified as Green List (High Evidence).",
"entity_name": "HPGD",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:25:19.544792+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HPGD were set to ",
"entity_name": "HPGD",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:25:05.621605+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HPGD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypertrophic osteoarthropathy, primary, autosomal recessive 1 MIM#259100, Cranioosteoarthropathy MIM#259100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HPGD",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:23:00.162392+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.13",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: AARS2 as ready",
"entity_name": "AARS2",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:23:00.136659+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.13",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: aars2 has been classified as Green List (High Evidence).",
"entity_name": "AARS2",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:21:47.351412+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HPSE2 as ready",
"entity_name": "HPSE2",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:21:47.336154+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hpse2 has been classified as Green List (High Evidence).",
"entity_name": "HPSE2",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:21:44.289250+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HPSE2 were changed from Urofacial syndrome 1, 236730 (3) to Urofacial syndrome 1 MIM#236730",
"entity_name": "HPSE2",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:21:33.379383+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HPSE2 were set to ",
"entity_name": "HPSE2",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:21:19.878541+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HPSE2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Urofacial syndrome 1 MIM#236730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HPSE2",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:20:40.778705+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.11",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: AAAS as ready",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:20:40.756414+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.11",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: aaas has been classified as Green List (High Evidence).",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:20:39.268561+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.11",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: AAAS were set to ",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:19:24.261900+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HSD17B4 as ready",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:19:24.245197+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hsd17b4 has been classified as Green List (High Evidence).",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:19:14.896062+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HSD17B4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: D-bifunctional protein deficiency, AR (MIM#261515); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:17:43.227322+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL1RN as ready",
"entity_name": "IL1RN",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:17:43.208079+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il1rn has been classified as Green List (High Evidence).",
"entity_name": "IL1RN",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:17:39.219096+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IL1RN were changed from Interleukin 1 receptor antagonist deficiency, 612852 (3) to Interleukin 1 receptor antagonist deficiency, MIM# 612852; Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis, MIM# 61285",
"entity_name": "IL1RN",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:17:03.441622+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL2RG as ready",
"entity_name": "IL2RG",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:17:03.425343+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il2rg has been classified as Green List (High Evidence).",
"entity_name": "IL2RG",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:16:41.194947+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL7R as ready",
"entity_name": "IL7R",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:16:41.175197+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il7r has been classified as Green List (High Evidence).",
"entity_name": "IL7R",
"entity_type": "gene"
},
{
"created": "2024-07-25T11:10:58.549318+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VPS11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 12 (MIM#616683); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS11",
"entity_type": "gene"
},
{
"created": "2024-07-24T17:14:27.294873+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.9",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: ARSB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11668612, 31142378; Phenotypes: Mucopolysaccharidosis type VI (Maroteaux-Lamy), MIM# 253200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARSB",
"entity_type": "gene"
},
{
"created": "2024-07-24T17:03:27.469025+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.9",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: ACTA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19562689; Phenotypes: Congenital myopathy 2B, severe infantile, autosomal recessive (MIM#620265); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACTA1",
"entity_type": "gene"
},
{
"created": "2024-07-24T16:46:18.134412+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.9",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: ARHGEF9: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31942680, 30048823, 29130122, 28620718; Phenotypes: Developmental and epileptic encephalopathy 8, MIM# 300607; 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": "ARHGEF9",
"entity_type": "gene"
},
{
"created": "2024-07-24T16:25:31.183111+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.9",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "changed review comment from: Is the phenotype(s) severe and onset <18yo ? Y\r\n\r\nNB: Optic atrophy 9 may also be AD.; to: Is the phenotype(s) severe and onset <18yo ? Y\r\n\r\n*No clear genotype-phenotype correlation (Fig 1a, PMID: 34056600)\r\n\r\nNB: Optic atrophy 9 may also be AD.",
"entity_name": "ACO2",
"entity_type": "gene"
},
{
"created": "2024-07-24T16:25:27.323942+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.9",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: ARG1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26467175, 2365823, 1598908, 29726057; Phenotypes: Argininemia MIM# 207800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2024-07-24T16:20:36.124881+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.9",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "changed review comment from: Is the phenotype(s) severe and onset <18yo ? Y\r\n\r\nNB: Optic atrophy 9 may also be AD.; to: Is the phenotype(s) severe and onset <18yo ? Y\r\n\r\nNB: Optic atrophy 9 may also be AD.",
"entity_name": "ACO2",
"entity_type": "gene"
},
{
"created": "2024-07-24T16:20:33.001963+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.9",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "edited their review of gene: ACO2: Changed rating: GREEN",
"entity_name": "ACO2",
"entity_type": "gene"
},
{
"created": "2024-07-24T16:20:10.546560+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.9",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: ACO2: Rating: ; Mode of pathogenicity: None; Publications: 34056600; Phenotypes: Infantile cerebellar-retinal degeneration (MIM#614559), Optic atrophy 9 (MIM#616289); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACO2",
"entity_type": "gene"
},
{
"created": "2024-07-24T16:11:19.191603+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.9",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "changed review comment from: HGNC approved symbol/name: ALG12 \r\nIs the phenotype(s) severe and onset <18yo ? Yes\r\nFeatures include impaired psychomotor development, dysmorphic features, failure to thrive, male genital hypoplasia, coagulation abnormalities, and immune deficiency. More variable features include skeletal dysplasia, cardiac anomalies, ocular abnormalities, and sensorineural hearing loss. Some patients die in the early neonatal or infantile period, whereas others are mildly affected and live to adulthood; to: HGNC approved symbol/name: ALG12 \r\nIs the phenotype(s) severe and onset <18yo ? Yes\r\nFeatures include impaired psychomotor development, dysmorphic features, failure to thrive, male genital hypoplasia, coagulation abnormalities, and immune deficiency. More variable features include skeletal dysplasia, cardiac anomalies, ocular abnormalities, and sensorineural hearing loss. Some patients die in the early neonatal or infantile period, whereas others are mildly affected and live to adulthood.\r\nNo specific treatment at present.",
"entity_name": "ALG12",
"entity_type": "gene"
},
{
"created": "2024-07-24T16:09:09.209566+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.9",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: AQP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 7537761, 11536078; Phenotypes: Diabetes insipidus, nephrogenic, type 2 MIM# 125800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "AQP2",
"entity_type": "gene"
},
{
"created": "2024-07-24T15:35:19.424100+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.9",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: AP4B1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21620353, 22290197, 24700674, 24781758; Phenotypes: Spastic paraplegia 47, autosomal recessive MIM# 614066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2024-07-24T15:24:47.122931+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.9",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: ALG12: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31481313; Phenotypes: Congenital disorder of glycosylation, type Ig MIM# 607143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG12",
"entity_type": "gene"
},
{
"created": "2024-07-24T15:09:52.893121+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIGA as ready",
"entity_name": "PIGA",
"entity_type": "gene"
},
{
"created": "2024-07-24T15:09:52.875037+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: piga has been classified as Red List (Low Evidence).",
"entity_name": "PIGA",
"entity_type": "gene"
},
{
"created": "2024-07-24T15:09:50.127663+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIGA were changed from PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1 OMIM# 300818 to Paroxysmal nocturnal hemoglobinuria, somatic, MIM#\t300818",
"entity_name": "PIGA",
"entity_type": "gene"
},
{
"created": "2024-07-24T15:08:57.917423+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIGA as Red List (low evidence)",
"entity_name": "PIGA",
"entity_type": "gene"
},
{
"created": "2024-07-24T15:08:57.898218+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: piga has been classified as Red List (Low Evidence).",
"entity_name": "PIGA",
"entity_type": "gene"
},
{
"created": "2024-07-24T15:08:23.627467+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag somatic tag was added to gene: PIGA.",
"entity_name": "PIGA",
"entity_type": "gene"
},
{
"created": "2024-07-24T15:07:22.768242+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PROC as ready",
"entity_name": "PROC",
"entity_type": "gene"
},
{
"created": "2024-07-24T15:07:22.754888+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: proc has been classified as Green List (High Evidence).",
"entity_name": "PROC",
"entity_type": "gene"
},
{
"created": "2024-07-24T15:07:17.770829+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PROC were changed from THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT # 176860; THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, # 612304 to Thrombophilia 3 due to protein C deficiency MIM#176860; Thrombophilia 3 due to protein C deficiency MIM#612304",
"entity_name": "PROC",
"entity_type": "gene"
},
{
"created": "2024-07-24T15:06:27.526239+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PROC as Green List (high evidence)",
"entity_name": "PROC",
"entity_type": "gene"
},
{
"created": "2024-07-24T15:06:27.479903+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: proc has been classified as Green List (High Evidence).",
"entity_name": "PROC",
"entity_type": "gene"
},
{
"created": "2024-07-24T15:04:55.343683+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KDM3B as ready",
"entity_name": "KDM3B",
"entity_type": "gene"
},
{
"created": "2024-07-24T15:04:55.319896+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdm3b has been classified as Red List (Low Evidence).",
"entity_name": "KDM3B",
"entity_type": "gene"
},
{
"created": "2024-07-24T15:04:50.496602+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KDM3B as Red List (low evidence)",
"entity_name": "KDM3B",
"entity_type": "gene"
},
{
"created": "2024-07-24T15:04:50.483120+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdm3b has been classified as Red List (Low Evidence).",
"entity_name": "KDM3B",
"entity_type": "gene"
},
{
"created": "2024-07-24T15:04:09.758491+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERLIN2 as ready",
"entity_name": "ERLIN2",
"entity_type": "gene"
},
{
"created": "2024-07-24T15:04:09.743781+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: erlin2 has been classified as Red List (Low Evidence).",
"entity_name": "ERLIN2",
"entity_type": "gene"
},
{
"created": "2024-07-24T15:04:01.939202+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ERLIN2 as Red List (low evidence)",
"entity_name": "ERLIN2",
"entity_type": "gene"
},
{
"created": "2024-07-24T15:04:01.918580+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: erlin2 has been classified as Red List (Low Evidence).",
"entity_name": "ERLIN2",
"entity_type": "gene"
},
{
"created": "2024-07-24T15:02:35.655360+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GCH1 as ready",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2024-07-24T15:02:35.634797+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gch1 has been classified as Green List (High Evidence).",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2024-07-24T15:02:30.862061+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GCH1 as Green List (high evidence)",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2024-07-24T15:02:30.847754+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gch1 has been classified as Green List (High Evidence).",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2024-07-24T15:01:41.165658+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GFAP as ready",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2024-07-24T15:01:41.151627+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gfap has been classified as Red List (Low Evidence).",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2024-07-24T15:01:36.362044+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GFAP as Red List (low evidence)",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2024-07-24T15:01:36.347901+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gfap has been classified as Red List (Low Evidence).",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2024-07-24T15:00:47.865885+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHPS as ready",
"entity_name": "DHPS",
"entity_type": "gene"
},
{
"created": "2024-07-24T15:00:47.846855+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhps has been classified as Amber List (Moderate Evidence).",
"entity_name": "DHPS",
"entity_type": "gene"
},
{
"created": "2024-07-24T15:00:05.981128+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DHPS as Amber List (moderate evidence)",
"entity_name": "DHPS",
"entity_type": "gene"
},
{
"created": "2024-07-24T15:00:05.962831+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhps has been classified as Amber List (Moderate Evidence).",
"entity_name": "DHPS",
"entity_type": "gene"
},
{
"created": "2024-07-24T14:59:14.630617+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYFIP2 as ready",
"entity_name": "CYFIP2",
"entity_type": "gene"
},
{
"created": "2024-07-24T14:59:14.603010+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyfip2 has been classified as Red List (Low Evidence).",
"entity_name": "CYFIP2",
"entity_type": "gene"
},
{
"created": "2024-07-24T14:58:37.252330+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CYFIP2 as Red List (low evidence)",
"entity_name": "CYFIP2",
"entity_type": "gene"
},
{
"created": "2024-07-24T14:58:37.236129+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyfip2 has been classified as Red List (Low Evidence).",
"entity_name": "CYFIP2",
"entity_type": "gene"
},
{
"created": "2024-07-24T14:52:57.537979+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: SPATA5: DEFINITIVE by ClinGen.",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2024-07-24T14:52:37.725396+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: SPATA5.",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2024-07-24T14:52:24.741010+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: SPATA5.",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2024-07-24T14:51:49.224448+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPATA5 as ready",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2024-07-24T14:51:49.217714+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: New HGNC approved name is AFG2A",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2024-07-24T14:51:49.163166+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spata5 has been classified as Green List (High Evidence).",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2024-07-24T14:51:19.624745+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: SPATA5.",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2024-07-24T14:51:02.744709+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPATA5 as ready",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2024-07-24T14:51:02.733991+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: New HGNC approved name is AFG2A",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2024-07-24T14:51:02.666270+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spata5 has been classified as Green List (High Evidence).",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2024-07-24T14:50:42.350466+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: SPATA5.",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2024-07-24T14:50:21.543148+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPATA5 as ready",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2024-07-24T14:50:21.530676+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: New HGNC approved name is AFG2A",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2024-07-24T14:50:21.483208+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spata5 has been classified as Green List (High Evidence).",
"entity_name": "SPATA5",
"entity_type": "gene"
}
]
}