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{
"count": 221385,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=342",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=340",
"results": [
{
"created": "2024-11-20T10:43:29.578602+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.553",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: GPAA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100095; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 15, MIM#617810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2024-11-20T09:46:05.158252+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.553",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: GNS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31536183; Phenotypes: Mucopolysaccharidosis type IIID, MIM# 252940, Sanfilippo syndrome type D, MONDO:0009658; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GNS",
"entity_type": "gene"
},
{
"created": "2024-11-19T21:29:00.703237+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.157",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GTF3A as ready",
"entity_name": "GTF3A",
"entity_type": "gene"
},
{
"created": "2024-11-19T21:29:00.692961+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.157",
"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": "2024-11-19T21:28:53.855455+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.157",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GTF3A was added\ngene: GTF3A was added to Defects of innate immunity. 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": "2024-11-19T21:12:42.787888+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.156",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: DBR1 as ready",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2024-11-19T21:12:42.768280+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.156",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dbr1 has been classified as Green List (High Evidence).",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2024-11-19T21:12:23.348312+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.156",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DBR1 as Green List (high evidence)",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2024-11-19T21:12:23.338569+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.156",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dbr1 has been classified as Green List (High Evidence).",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2024-11-19T21:11:41.339227+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.155",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DBR1 was added\ngene: DBR1 was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: DBR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DBR1 were set to 39023559; 29474921\nPhenotypes for gene: DBR1 were set to encephalitis, acute, infection (viral)-induced, susceptibility to, 11 MONDO:0030334\nReview for gene: DBR1 was set to GREEN\ngene: DBR1 was marked as current diagnostic\nAdded comment: IUIS IEI committee classification as a defect in innate and intrinsic immunity in the subcategory of herpes simplex encephalitis. At least 4 families reported. \nSources: Expert list",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2024-11-19T17:05:44.662479+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.39",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: SMAD9: Rating: AMBER; Mode of pathogenicity: None; Publications: 29844917; Phenotypes: arteriovenous malformations of the brain MONDO:0007154; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SMAD9",
"entity_type": "gene"
},
{
"created": "2024-11-19T16:50:01.290678+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.39",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: PKD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301424; Phenotypes: polycystic kidney disease 2 MONDO:0013131; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "PKD2",
"entity_type": "gene"
},
{
"created": "2024-11-19T16:42:26.551346+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.39",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: PKD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301424, 35108395, 26260542; Phenotypes: polycystic kidney disease 1 MONDO:0008263; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "PKD1",
"entity_type": "gene"
},
{
"created": "2024-11-19T16:29:22.200969+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.39",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: PCNT: Rating: AMBER; Mode of pathogenicity: None; Publications: 34978779, 19839044, 37234811, 34923567; Phenotypes: microcephalic osteodysplastic primordial dwarfism type II MONDO:0008872, Moyamoya disease MONDO:0016820; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2024-11-19T16:13:06.039473+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.553",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: GLDC: Rating: GREEN; Mode of pathogenicity: None; Publications: 36817643, 34513771; Phenotypes: Glycine encephalopathy1 (MIM#605899); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GLDC",
"entity_type": "gene"
},
{
"created": "2024-11-19T15:44:12.026716+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.39",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: NF1: Rating: RED; Mode of pathogenicity: None; Publications: 20301288; Phenotypes: neurofibromatosis type 1 MONDO:0018975; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2024-11-19T15:43:48.076863+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.553",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: GAMT: Rating: GREEN; Mode of pathogenicity: None; Publications: 33996490, 38469086; Phenotypes: Cerebral creatine deficiency syndrome 2 (MIM#612736); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GAMT",
"entity_type": "gene"
},
{
"created": "2024-11-19T15:35:58.562660+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.553",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: ESCO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32977150; Phenotypes: Juberg-Hayward syndrome (MIM#216100), Roberts-SC phocomelia syndrome (MIM#268300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2024-11-19T15:33:32.190393+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.39",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: MYH11: Rating: RED; Mode of pathogenicity: None; Publications: 32081817, 29263223, 27367753; Phenotypes: cerebrovascular disorder MONDO:0011057; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "MYH11",
"entity_type": "gene"
},
{
"created": "2024-11-19T15:15:45.740525+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.553",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: EIF2B5: Rating: GREEN; Mode of pathogenicity: None; Publications: 20975056, 37674283, 25761052; Phenotypes: Leukoencephalopathy with vanishing white matter 5, with or without ovarian failure (MIM#620315); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EIF2B5",
"entity_type": "gene"
},
{
"created": "2024-11-19T15:05:26.797100+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.553",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: DPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 39166428, 33704902; Phenotypes: Developmental delay with short stature, dysmorphic facial features, and sparse hair (MIM#616901); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DPH1",
"entity_type": "gene"
},
{
"created": "2024-11-19T12:36:55.605882+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.39",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: MRVI1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown",
"entity_name": "MRVI1",
"entity_type": "gene"
},
{
"created": "2024-11-19T12:13:54.593746+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.39",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: HBB: Rating: RED; Mode of pathogenicity: None; Publications: 27301940; Phenotypes: sickle cell anemia MONDO:0011382; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HBB",
"entity_type": "gene"
},
{
"created": "2024-11-19T11:25:07.404305+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.39",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: FLVCR2: Rating: RED; Mode of pathogenicity: None; Publications: 4555262; Phenotypes: Fowler syndrome MONDO:0009168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FLVCR2",
"entity_type": "gene"
},
{
"created": "2024-11-19T11:00:04.011420+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.39",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: CEP152: Rating: RED; Mode of pathogenicity: None; Publications: 19338412; Phenotypes: Seckel syndrome MONDO:0019342; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2024-11-19T10:50:05.461338+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.39",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: ATR: Rating: RED; Mode of pathogenicity: None; Publications: 19338412; Phenotypes: Seckel syndrome 1 MONDO:0008869; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2024-11-19T10:09:11.222677+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.39",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: ADA2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24552284; Phenotypes: vasculitis due to ADA2 deficiency MONDO:0014306; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2024-11-19T09:50:32.778995+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.39",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28742248, 25205403, 19455184; Phenotypes: polymicrogyria with or without vascular-type Ehlers-Danlos syndrome MONDO:0032688; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2024-11-18T20:42:44.301312+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.553",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: G6PC as ready",
"entity_name": "G6PC",
"entity_type": "gene"
},
{
"created": "2024-11-18T20:42:44.288621+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.553",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: g6pc has been classified as Green List (High Evidence).",
"entity_name": "G6PC",
"entity_type": "gene"
},
{
"created": "2024-11-18T20:42:36.609542+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.553",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: G6PC were set to ",
"entity_name": "G6PC",
"entity_type": "gene"
},
{
"created": "2024-11-18T20:40:38.041298+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.552",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: GNB5 as ready",
"entity_name": "GNB5",
"entity_type": "gene"
},
{
"created": "2024-11-18T20:40:38.032100+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.552",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: gnb5 has been classified as Green List (High Evidence).",
"entity_name": "GNB5",
"entity_type": "gene"
},
{
"created": "2024-11-18T20:40:31.951054+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.552",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: GNB5 were changed from Intellectual developmental disorder with cardiac arrhythmia, 617173 (3), Autosomal recessive to Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia (MIM#617173); Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia (MIM#617182)",
"entity_name": "GNB5",
"entity_type": "gene"
},
{
"created": "2024-11-18T20:39:37.315502+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.551",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: GNB5 were set to ",
"entity_name": "GNB5",
"entity_type": "gene"
},
{
"created": "2024-11-18T20:38:37.912241+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.550",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: GNPAT as ready",
"entity_name": "GNPAT",
"entity_type": "gene"
},
{
"created": "2024-11-18T20:38:37.899366+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.550",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: gnpat has been classified as Green List (High Evidence).",
"entity_name": "GNPAT",
"entity_type": "gene"
},
{
"created": "2024-11-18T20:38:33.856061+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.550",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: GNPAT were changed from Chondrodysplasia punctata, rhizomelic, type 2, 222765 (3) to Rhizomelic chondrodysplasia punctata, type 2 (MIM# 22276)5)",
"entity_name": "GNPAT",
"entity_type": "gene"
},
{
"created": "2024-11-18T20:38:10.975927+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.549",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: GNPAT were set to ",
"entity_name": "GNPAT",
"entity_type": "gene"
},
{
"created": "2024-11-18T20:37:07.652709+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.548",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: CLN3 were set to 7553855; 31926949",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2024-11-18T20:36:48.500005+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.547",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: CLN3.",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2024-11-18T16:02:03.783349+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.39",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: EPHB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 33864021, 27400125, 29444212; Phenotypes: EPHB4-associated vascular malformation spectrum MONDO:0700080; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2024-11-18T15:31:28.758813+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.39",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: ANO1: Rating: AMBER; Mode of pathogenicity: None; Publications: 37253099; Phenotypes: Moyamoya disease 7 MONDO:0958202; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ANO1",
"entity_type": "gene"
},
{
"created": "2024-11-18T15:01:19.175192+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.39",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: YY1AP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9489789, 11241488, 31633303; Phenotypes: grange syndrome MONDO:0011243; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "YY1AP1",
"entity_type": "gene"
},
{
"created": "2024-11-18T14:24:11.191157+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.39",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301525; Phenotypes: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome MONDO:0008278; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2024-11-18T14:14:10.315520+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.39",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: SLC2A10: Rating: GREEN; Mode of pathogenicity: None; Publications: 16550171, 17935213; Phenotypes: arterial tortuosity syndrome MONDO:0008818; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC2A10",
"entity_type": "gene"
},
{
"created": "2024-11-18T13:46:54.054749+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.39",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: SAMHD1: Rating: ; Mode of pathogenicity: None; Publications: 20653736, 21402907; Phenotypes: Moyamoya disease MONDO:0016820, Aicardi-Goutieres syndrome 5 MONDO:0013059; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2024-11-18T13:07:23.959716+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.39",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: RASA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21348050, 24038909; Phenotypes: Capillary Malformation-Arteriovenous Malformation Syndrome MONDO:0012016; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2024-11-18T12:23:56.414852+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.39",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: CCM is a feature in affected individuals; to: CCM is a feature in affected individuals.\r\n",
"entity_name": "PDCD10",
"entity_type": "gene"
},
{
"created": "2024-11-18T12:23:26.302463+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.39",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: PDCD10: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301470; Phenotypes: Familial cerebral cavernous malformations MONDO:0031037; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDCD10",
"entity_type": "gene"
},
{
"created": "2024-11-18T12:18:48.836119+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.547",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: CLN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 7553855, 9004140, 9311735, 31926949; Phenotypes: Ceroid lipofuscinosis, neuronal, 3, MIM# 204200, MONDO:0008767; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2024-11-18T12:09:51.149900+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.547",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2024-11-18T12:00:03.826410+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.39",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: GUCY1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24581742, 26777256; Phenotypes: Moyamoya disease with early-onset achalasia MONDO:0014331; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GUCY1A3",
"entity_type": "gene"
},
{
"created": "2024-11-18T11:42:20.887909+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.39",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: None; Publications: 7894484, 20414677, 30763665, 17384219, 20364125; Phenotypes: telangiectasia, hereditary hemorrhagic, type 1 MONDO:0008535; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2024-11-18T11:23:31.314089+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.39",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: CCM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301470; Phenotypes: famililal cerebral cavernous malformations MONDO:0031037; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CCM2",
"entity_type": "gene"
},
{
"created": "2024-11-18T11:18:04.744731+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.39",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 86402252, 17384219, 26176610, 9245985 20364125, 20414677; Phenotypes: telangiectasia, hereditary hemorrhagic, type 2 MONDO:0010880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2024-11-18T11:11:15.538866+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.39",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: ACTA2: Rating: AMBER; Mode of pathogenicity: None; Publications: 19409525, 24621862, 20970362; Phenotypes: Moyamoya disease 5 MONDO:0013542; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2024-11-18T09:54:11.883188+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.547",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: GNPAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 9536089, 11152660, 21990100; Phenotypes: Rhizomelic chondrodysplasia punctata, type 2 (MIM# 222765); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GNPAT",
"entity_type": "gene"
},
{
"created": "2024-11-18T09:30:31.620319+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.547",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: GNB5: Rating: GREEN; Mode of pathogenicity: None; Publications: 34436834; Phenotypes: Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia (MIM#617173), Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia (MIM#617182); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GNB5",
"entity_type": "gene"
},
{
"created": "2024-11-18T08:20:29.984463+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.547",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: G6PC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease Ia (MIM# 232200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "G6PC",
"entity_type": "gene"
},
{
"created": "2024-11-17T15:06:42.520668+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.150",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-17T13:34:11.951318+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.32",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: DBF4 as ready",
"entity_name": "DBF4",
"entity_type": "gene"
},
{
"created": "2024-11-17T13:34:11.935985+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.32",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dbf4 has been classified as Red List (Low Evidence).",
"entity_name": "DBF4",
"entity_type": "gene"
},
{
"created": "2024-11-17T13:33:33.660902+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.32",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DBF4 was added\ngene: DBF4 was added to Phagocyte Defects. Sources: Expert list\nMode of inheritance for gene: DBF4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DBF4 were set to 36841265\nPhenotypes for gene: DBF4 were set to severe congenital neutropenia MONDO:0018542\nReview for gene: DBF4 was set to RED\nAdded comment: A single case with a homozygous variant & some supporting in vitro functional assay. \nSources: Expert list",
"entity_name": "DBF4",
"entity_type": "gene"
},
{
"created": "2024-11-16T15:12:29.522353+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.216",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TNFSF9 as ready",
"entity_name": "TNFSF9",
"entity_type": "gene"
},
{
"created": "2024-11-16T15:12:29.500769+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.216",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tnfsf9 has been classified as Red List (Low Evidence).",
"entity_name": "TNFSF9",
"entity_type": "gene"
},
{
"created": "2024-11-16T15:06:54.766226+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.215",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TNFSF9 was added\ngene: TNFSF9 was added to Disorders of immune dysregulation. Sources: Expert list\nMode of inheritance for gene: TNFSF9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TNFSF9 were set to 35657354\nPhenotypes for gene: TNFSF9 were set to Hereditary susceptibility to infections, MONDO:0015979, TNFSF9-related",
"entity_name": "TNFSF9",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:56:20.866097+11:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.131",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: NFATC2 were set to PMID: 38427060",
"entity_name": "NFATC2",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:55:36.159428+11:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.130",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NFATC2 as Amber List (moderate evidence)",
"entity_name": "NFATC2",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:55:36.141897+11:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.130",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nfatc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NFATC2",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:54:59.439452+11:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.129",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: NFATC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 35789258, 38427060; Phenotypes: Lymphoproliferative syndrome, MONDO:0016537, NFATC2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NFATC2",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:54:08.734620+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2147",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NFATC2 as Amber List (moderate evidence)",
"entity_name": "NFATC2",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:54:08.719794+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2147",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nfatc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NFATC2",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:53:42.467627+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2146",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: NFATC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 35789258, 38427060; Phenotypes: Lymphoproliferative syndrome, MONDO:0016537, NFATC2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NFATC2",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:52:23.575471+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.214",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: NFATC2 as ready",
"entity_name": "NFATC2",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:52:23.564106+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.214",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nfatc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NFATC2",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:51:54.028590+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.214",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NFATC2 as Amber List (moderate evidence)",
"entity_name": "NFATC2",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:51:53.998581+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.214",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nfatc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NFATC2",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:49:35.640693+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.213",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NFATC2 was added\ngene: NFATC2 was added to Disorders of immune dysregulation. Sources: Expert list\nMode of inheritance for gene: NFATC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NFATC2 were set to 35789258; 38427060\nPhenotypes for gene: NFATC2 were set to Lymphoproliferative syndrome, MONDO:0016537, NFATC2-related\nReview for gene: NFATC2 was set to AMBER\nAdded comment: 2 consanguineous families are reported with homozygous variants (a frameshift & an in-frame deletion). Both families have a lymphoproliferative disorder and one family also had soft tissue and cartilage abnormalities. IUIS IEI committee classify NFATC2-deficiency as a disease of immune dysregulation. \nSources: Expert list",
"entity_name": "NFATC2",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:34:48.782385+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.57",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:LACC1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-16T14:33:27.546646+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.212",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: LACC1 as ready",
"entity_name": "LACC1",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:33:27.529306+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.212",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lacc1 has been classified as Green List (High Evidence).",
"entity_name": "LACC1",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:33:17.197878+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.212",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: LACC1 as Green List (high evidence)",
"entity_name": "LACC1",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:33:17.185944+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.212",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: IUIS IEI classifies LACC1-deficiency as a disease of immune dysregulation",
"entity_name": "LACC1",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:33:17.155440+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.212",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lacc1 has been classified as Green List (High Evidence).",
"entity_name": "LACC1",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:31:03.682869+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.210",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LACC1 was added\ngene: LACC1 was added to Disorders of immune dysregulation. Sources: Expert list\nMode of inheritance for gene: LACC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LACC1 were set to 25220867; 27881174; 30872671; 33718577\nPhenotypes for gene: LACC1 were set to juvenile arthritis due to defect in LACC1 MONDO:0032920",
"entity_name": "LACC1",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:29:51.193392+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.209",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: IL27RA as ready",
"entity_name": "IL27RA",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:29:51.181715+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.209",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: il27ra has been classified as Amber List (Moderate Evidence).",
"entity_name": "IL27RA",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:28:41.624163+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.209",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: IL27RA as Amber List (moderate evidence)",
"entity_name": "IL27RA",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:28:41.607505+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.209",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: il27ra has been classified as Amber List (Moderate Evidence).",
"entity_name": "IL27RA",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:28:05.357824+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.208",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IL27RA was added\ngene: IL27RA was added to Disorders of immune dysregulation. Sources: Expert list\nMode of inheritance for gene: IL27RA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IL27RA were set to 38509369\nPhenotypes for gene: IL27RA were set to Epstein-Barr virus infection MONDO:0005111 , IL27RA-related\nReview for gene: IL27RA was set to AMBER\nAdded comment: 2 families reported. IL27RA-deficiency is classified as a disease of immune dysregulation by the IUIS IEI committee, under the Susceptibility to EBV and Lymphoproliferative Conditions subcategory. \nSources: Expert list",
"entity_name": "IL27RA",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:25:42.797600+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.207",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GIMAP5 as ready",
"entity_name": "GIMAP5",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:25:42.775945+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.207",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gimap5 has been classified as Green List (High Evidence).",
"entity_name": "GIMAP5",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:20:37.609077+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.207",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GIMAP5 as Green List (high evidence)",
"entity_name": "GIMAP5",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:20:37.598373+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.207",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gimap5 has been classified as Green List (High Evidence).",
"entity_name": "GIMAP5",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:20:06.552169+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.206",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GIMAP5 was added\ngene: GIMAP5 was added to Disorders of immune dysregulation. Sources: Expert list\nMode of inheritance for gene: GIMAP5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GIMAP5 were set to 33956074\nPhenotypes for gene: GIMAP5 were set to portal hypertension, noncirrhotic, 2 MONDO:0030397\nReview for gene: GIMAP5 was set to GREEN\ngene: GIMAP5 was marked as current diagnostic\nAdded comment: At least 4 families reported. GIMAP5-deficiency is classified as a disease of immune dysregulation by the IUIS IEI committee, under the Autoimmunity with or without Lymphoproliferation subcategory. \nSources: Expert list",
"entity_name": "GIMAP5",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:14:17.009531+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.205",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FERMT1 as ready",
"entity_name": "FERMT1",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:14:16.973394+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.205",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fermt1 has been classified as Green List (High Evidence).",
"entity_name": "FERMT1",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:14:13.531951+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.205",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FERMT1 as Green List (high evidence)",
"entity_name": "FERMT1",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:14:13.523195+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.205",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fermt1 has been classified as Green List (High Evidence).",
"entity_name": "FERMT1",
"entity_type": "gene"
}
]
}