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{
"count": 220423,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=796",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=794",
"results": [
{
"created": "2022-07-19T18:17:16.876398+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbc1d24 has been classified as Green List (High Evidence).",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2022-07-19T18:16:38.904309+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBC1D24: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 16, MIM# 615338; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2022-07-19T18:14:45.618466+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBP as ready",
"entity_name": "TBP",
"entity_type": "gene"
},
{
"created": "2022-07-19T18:14:45.607331+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbp has been removed from the panel.",
"entity_name": "TBP",
"entity_type": "gene"
},
{
"created": "2022-07-19T18:14:38.154059+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag STR tag was added to gene: TBP.",
"entity_name": "TBP",
"entity_type": "gene"
},
{
"created": "2022-07-19T18:14:29.839077+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: TBP",
"entity_name": "TBP",
"entity_type": "gene"
},
{
"created": "2022-07-19T18:13:09.799224+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBTF as ready",
"entity_name": "UBTF",
"entity_type": "gene"
},
{
"created": "2022-07-19T18:13:09.785516+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ubtf has been classified as Green List (High Evidence).",
"entity_name": "UBTF",
"entity_type": "gene"
},
{
"created": "2022-07-19T18:13:06.803877+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBTF were changed from Neurodegeneration, childhood-onset; Parkinsonism; Dystonia; Chorea; Brain atrophy to Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672; Parkinsonism; Dystonia; Chorea; Brain atrophy",
"entity_name": "UBTF",
"entity_type": "gene"
},
{
"created": "2022-07-19T18:12:41.052023+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UBTF was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "UBTF",
"entity_type": "gene"
},
{
"created": "2022-07-19T18:12:11.088106+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UBTF as Green List (high evidence)",
"entity_name": "UBTF",
"entity_type": "gene"
},
{
"created": "2022-07-19T18:12:11.076602+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ubtf has been classified as Green List (High Evidence).",
"entity_name": "UBTF",
"entity_type": "gene"
},
{
"created": "2022-07-19T18:11:36.325819+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UBTF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "UBTF",
"entity_type": "gene"
},
{
"created": "2022-07-19T18:09:22.155565+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VAC14 as ready",
"entity_name": "VAC14",
"entity_type": "gene"
},
{
"created": "2022-07-19T18:09:22.138348+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vac14 has been classified as Green List (High Evidence).",
"entity_name": "VAC14",
"entity_type": "gene"
},
{
"created": "2022-07-19T18:09:19.053329+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VAC14 were changed from Childhood onset Striatonigral degeneration; Dystonia; Parkinsonism; OMIM 617054 to Striatonigral degeneration, childhood-onset, MIM# 617054; Dystonia; Parkinsonism",
"entity_name": "VAC14",
"entity_type": "gene"
},
{
"created": "2022-07-19T18:08:34.184633+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VAC14 as Green List (high evidence)",
"entity_name": "VAC14",
"entity_type": "gene"
},
{
"created": "2022-07-19T18:08:34.176292+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vac14 has been classified as Green List (High Evidence).",
"entity_name": "VAC14",
"entity_type": "gene"
},
{
"created": "2022-07-19T18:08:03.398636+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VAC14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Striatonigral degeneration, childhood-onset, MIM# 617054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VAC14",
"entity_type": "gene"
},
{
"created": "2022-07-19T17:25:02.490943+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.50",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: NCF1: Rating: AMBER; Mode of pathogenicity: None; Publications: 30651282, 23688784; Phenotypes: Chronic granulomatous disease 1, autosomal recessive (MIM#233700); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NCF1",
"entity_type": "gene"
},
{
"created": "2022-07-19T17:04:24.614938+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.50",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: NEB: Rating: AMBER; Mode of pathogenicity: None; Publications: 27228465; Phenotypes: Arthrogryposis multiplex congenita 6 (MIM#619334), Nemaline myopathy 2, autosomal recessive (MIM#256030); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NEB",
"entity_type": "gene"
},
{
"created": "2022-07-19T15:49:17.794026+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.50",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: HYDIN: Rating: AMBER; Mode of pathogenicity: None; Publications: 23022101, 28441829, 31116566; Phenotypes: Ciliary dyskinesia, primary, 5 (MIM#608647); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HYDIN",
"entity_type": "gene"
},
{
"created": "2022-07-19T14:45:37.461847+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.50",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: SNORD118: Rating: AMBER; Mode of pathogenicity: None; Publications: 33029936; Phenotypes: Leukoencephalopathy, brain calcifications, and cysts (MIM#614561); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SNORD118",
"entity_type": "gene"
},
{
"created": "2022-07-19T14:26:49.275266+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.50",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: UBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18179898, 32181232, 31932168, 29034082, 23518311, 26028276; Phenotypes: Spinal muscular atrophy, X-linked 2, infantile (MIM#301830); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:13:53.569492+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "1.1",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel status changed from internal to public",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-07-19T13:13:26.057137+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "1.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-07-19T13:13:10.673296+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TBCE as ready",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:13:10.661491+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tbce has been classified as Green List (High Evidence).",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:13:08.374383+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: TBCE were set to ",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:12:58.669661+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TBCE as Green List (high evidence)",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:12:58.656006+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tbce has been classified as Green List (High Evidence).",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:12:48.112873+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:12:37.229321+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PTH as ready",
"entity_name": "PTH",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:12:37.216400+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pth has been classified as Green List (High Evidence).",
"entity_name": "PTH",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:12:30.246018+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: PTH were set to ",
"entity_name": "PTH",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:12:22.025956+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PTH as Green List (high evidence)",
"entity_name": "PTH",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:12:22.003141+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pth has been classified as Green List (High Evidence).",
"entity_name": "PTH",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:12:12.445888+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "PTH",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:12:08.641065+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "PTH",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:12:03.619627+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GNA11 as ready",
"entity_name": "GNA11",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:12:03.603423+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gna11 has been classified as Green List (High Evidence).",
"entity_name": "GNA11",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:11:58.299031+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: GNA11 were set to ",
"entity_name": "GNA11",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:11:50.957961+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: GNA11 was changed from None to Other",
"entity_name": "GNA11",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:11:45.260112+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GNA11 as Green List (high evidence)",
"entity_name": "GNA11",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:11:45.249311+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gna11 has been classified as Green List (High Evidence).",
"entity_name": "GNA11",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:11:33.912711+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "GNA11",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:11:24.299167+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GCM2 as ready",
"entity_name": "GCM2",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:11:24.289990+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gcm2 has been classified as Green List (High Evidence).",
"entity_name": "GCM2",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:11:18.232998+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: GCM2 were set to ",
"entity_name": "GCM2",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:11:13.327032+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: GCM2 was changed from None to Other",
"entity_name": "GCM2",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:11:00.981781+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: GCM2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GCM2",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:10:53.318153+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GCM2 as Green List (high evidence)",
"entity_name": "GCM2",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:10:53.306527+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gcm2 has been classified as Green List (High Evidence).",
"entity_name": "GCM2",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:10:43.962155+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "GCM2",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:10:39.733183+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "GCM2",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:10:33.685170+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GATA3 as ready",
"entity_name": "GATA3",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:10:33.672306+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gata3 has been classified as Green List (High Evidence).",
"entity_name": "GATA3",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:10:28.186802+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: GATA3 were set to ",
"entity_name": "GATA3",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:10:18.649043+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GATA3 as Green List (high evidence)",
"entity_name": "GATA3",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:10:18.640693+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gata3 has been classified as Green List (High Evidence).",
"entity_name": "GATA3",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:10:06.155334+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "GATA3",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:09:59.017588+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CASR as ready",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:09:59.000334+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: casr has been classified as Green List (High Evidence).",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:09:53.025519+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: CASR were set to ",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:09:46.272713+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: CASR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:09:39.632445+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CASR as Green List (high evidence)",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:09:39.618661+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: casr has been classified as Green List (High Evidence).",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:09:29.996484+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:09:24.111535+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:09:15.716954+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: AIRE as ready",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:09:15.708380+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: aire has been classified as Green List (High Evidence).",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:09:02.736674+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: AIRE was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:08:53.979617+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: AIRE as Green List (high evidence)",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:08:53.964657+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: aire has been classified as Green List (High Evidence).",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:08:39.819830+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:08:37.576221+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:05:24.010244+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RYR1 as ready",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:05:23.991630+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ryr1 has been classified as Red List (Low Evidence).",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:05:18.124701+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RYR1 were changed from CCD; CENTRAL CORE DISEASE OF MUSCLE to RYR1-related myopathy - MONDO:0100150",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:04:10.223354+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RYR1 as Red List (low evidence)",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:04:10.214356+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ryr1 has been classified as Red List (Low Evidence).",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:03:07.076675+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TBCE was added\ngene: TBCE was added to Familial hypoparathyroidism. Sources: NHS GMS\nMode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TBCE were set to hypoparathyroidism-retardation-dysmorphism syndrome MONDO:0009426\nReview for gene: TBCE was set to GREEN\nAdded comment: Sources: NHS GMS",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:01:55.806646+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PTH was added\ngene: PTH was added to Familial hypoparathyroidism. Sources: NHS GMS\nMode of inheritance for gene: PTH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: PTH were set to familial isolated hypoparathyroidism due to impaired PTH secretion MONDO:0016000\nReview for gene: PTH was set to GREEN\nAdded comment: Sources: NHS GMS",
"entity_name": "PTH",
"entity_type": "gene"
},
{
"created": "2022-07-19T13:00:50.454188+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GNA11 was added\ngene: GNA11 was added to Familial hypoparathyroidism. Sources: NHS GMS\nMode of inheritance for gene: GNA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GNA11 were set to autosomal dominant hypocalcemia MONDO:0018543\nReview for gene: GNA11 was set to GREEN\nAdded comment: Sources: NHS GMS",
"entity_name": "GNA11",
"entity_type": "gene"
},
{
"created": "2022-07-19T12:58:52.378866+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GCM2 was added\ngene: GCM2 was added to Familial hypoparathyroidism. Sources: NHS GMS\nMode of inheritance for gene: GCM2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: GCM2 were set to Familial isolated hyperparathyroidism MONDO:0015027\nReview for gene: GCM2 was set to GREEN\nAdded comment: Sources: NHS GMS",
"entity_name": "GCM2",
"entity_type": "gene"
},
{
"created": "2022-07-19T12:57:36.968418+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GATA3 was added\ngene: GATA3 was added to Familial hypoparathyroidism. Sources: NHS GMS\nMode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GATA3 were set to Hypoparathyroidism-deafness-renal disease syndrome MONDO:0007797\nReview for gene: GATA3 was set to GREEN\nAdded comment: Sources: NHS GMS",
"entity_name": "GATA3",
"entity_type": "gene"
},
{
"created": "2022-07-19T12:55:47.493762+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CASR was added\ngene: CASR was added to Familial hypoparathyroidism. Sources: NHS GMS\nMode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: CASR were set to autosomal dominant hypocalcemia 1 MONDO:0011013\nReview for gene: CASR was set to GREEN\nAdded comment: Sources: NHS GMS",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2022-07-19T12:53:08.241311+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AIRE was added\ngene: AIRE was added to Familial hypoparathyroidism. Sources: NHS GMS\nMode of inheritance for gene: AIRE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: AIRE were set to Autoimmune polyendocrine syndrome type 1 MONDO:0009411\nReview for gene: AIRE was set to GREEN\nAdded comment: Sources: NHS GMS",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2022-07-19T12:50:52.747702+10:00",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 3894,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added Panel Familial hypoparathyroidism\nSet panel types to: Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-07-19T11:29:15.189213+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.180",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: RYR1: Rating: RED; Mode of pathogenicity: None; Publications: 23553484; Phenotypes: RYR1-related myopathy - MONDO:0100150; Mode of inheritance: None",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2022-07-19T11:02:09.225381+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.50",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: CHM: Rating: AMBER; Mode of pathogenicity: None; Publications: 33110609, 27820636; Phenotypes: Choroideremia (MIM#303100); 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": "CHM",
"entity_type": "gene"
},
{
"created": "2022-07-19T10:51:40.312479+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.50",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: PROC: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombophilia 3 due to protein C deficiency, autosomal recessive (MIM#612304), Thrombophilia 3 due to protein C deficiency, autosomal dominant (MIM#176860); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "PROC",
"entity_type": "gene"
},
{
"created": "2022-07-19T10:51:14.533148+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.50",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "PROC",
"entity_type": "gene"
},
{
"created": "2022-07-19T10:51:06.062542+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.50",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "changed review comment from: Gene is associated AD and AR thrombophilia 3 due to protein C deficiency\r\n\r\nAR form of condition is associated with variable severity and occasional late-onset of symptoms with homozygosity\r\n\r\nHeterozygous 'carriers' of pathogenic variants in the PROC gene are said to have mild protein C deficiency which is often asymptomatic, but may involve recurrent venous thrombosis.\r\n\r\nDifficult to define penetrance as represents risk factor for thrombophilia.\r\n\r\nChallenge in interpretation and reporting in a carrier screening context; to: Gene is associated AD and AR thrombophilia 3 due to protein C deficiency\r\n\r\nAR form of condition is associated with variable severity and occasional late-onset of symptoms with homozygosity\r\n\r\nHeterozygous 'carriers' of pathogenic variants in the PROC gene are said to have mild protein C deficiency which is often asymptomatic, but may involve recurrent venous thrombosis.\r\n\r\nDifficult to define penetrance as represents risk factor for thrombophilia.\r\n\r\nChallenge in interpretation and reporting in a carrier screening context",
"entity_name": "PROC",
"entity_type": "gene"
},
{
"created": "2022-07-19T10:50:58.458457+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.50",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: PROC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombophilia 3 due to protein C deficiency, autosomal recessive (MIM#612304), Thrombophilia 3 due to protein C deficiency, autosomal dominant (MIM#176860); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "PROC",
"entity_type": "gene"
},
{
"created": "2022-07-19T10:37:10.424327+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.50",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: IKBKG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ectodermal dysplasia and immunodeficiency 1, MIM# 300291, Immunodeficiency 33 , MIM#300636, Incontinentia pigmenti, MIM# 308300, Autoinflammatory disease, systemic, X-linked, MIM# 301081; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2022-07-18T19:04:01.982215+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WARS2 as ready",
"entity_name": "WARS2",
"entity_type": "gene"
},
{
"created": "2022-07-18T19:04:01.957801+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wars2 has been classified as Green List (High Evidence).",
"entity_name": "WARS2",
"entity_type": "gene"
},
{
"created": "2022-07-18T19:03:56.143644+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WARS2 were changed from Parkinsonism-dystonia 3, childhood-onset, MIM# 619738 to Parkinsonism-dystonia 3, childhood-onset, MIM# 619738",
"entity_name": "WARS2",
"entity_type": "gene"
},
{
"created": "2022-07-18T19:03:34.230136+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WARS2 were changed from Childhood onset parkinsonism dystonia-3; Myoclonus ataxia; OMIM 619738 to Parkinsonism-dystonia 3, childhood-onset, MIM# 619738",
"entity_name": "WARS2",
"entity_type": "gene"
}
]
}