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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=330",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=328",
"results": [
{
"created": "2024-12-08T16:54:10.385653+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dcdc2 has been classified as Green List (High Evidence).",
"entity_name": "DCDC2",
"entity_type": "gene"
},
{
"created": "2024-12-08T16:54:07.680109+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DCDC2 were changed from to Sclerosing cholangitis, neonatal, MIM# 617394",
"entity_name": "DCDC2",
"entity_type": "gene"
},
{
"created": "2024-12-08T16:53:36.192628+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DCDC2 were set to ",
"entity_name": "DCDC2",
"entity_type": "gene"
},
{
"created": "2024-12-08T16:53:03.181752+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DCDC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DCDC2",
"entity_type": "gene"
},
{
"created": "2024-12-08T16:52:30.438707+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DCDC2: Added comment: At least 8 families reported. Affected infants have jaundice, cholestasis, acholic stools, and progressive liver dysfunction resulting in fibrosis and cirrhosis; most require liver transplantation in the first few decades of life.; Changed publications: 27319779, 27469900",
"entity_name": "DCDC2",
"entity_type": "gene"
},
{
"created": "2024-12-08T16:51:20.866147+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DCDC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sclerosing cholangitis, neonatal, MIM# 617394; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DCDC2",
"entity_type": "gene"
},
{
"created": "2024-12-08T16:50:28.945747+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYP27A1 as ready",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2024-12-08T16:50:28.928468+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp27a1 has been classified as Green List (High Evidence).",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2024-12-08T16:50:26.194893+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CYP27A1 were changed from to Cerebrotendinous xanthomatosis, MIM# 213700",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2024-12-08T16:49:49.329925+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CYP27A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2024-12-08T16:49:14.406149+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebrotendinous xanthomatosis, MIM# 213700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2024-12-08T16:46:45.170755+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLDN1 as ready",
"entity_name": "CLDN1",
"entity_type": "gene"
},
{
"created": "2024-12-08T16:46:45.148197+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cldn1 has been classified as Green List (High Evidence).",
"entity_name": "CLDN1",
"entity_type": "gene"
},
{
"created": "2024-12-08T16:46:42.149881+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLDN1 were changed from to Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis MIM#607626",
"entity_name": "CLDN1",
"entity_type": "gene"
},
{
"created": "2024-12-08T16:46:05.805734+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLDN1 were set to ",
"entity_name": "CLDN1",
"entity_type": "gene"
},
{
"created": "2024-12-08T16:45:32.212630+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLDN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLDN1",
"entity_type": "gene"
},
{
"created": "2024-12-08T16:44:59.779094+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLDN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12164927, 11889141, 29146216; Phenotypes: Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis MIM#607626; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLDN1",
"entity_type": "gene"
},
{
"created": "2024-12-08T16:43:21.623701+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CC2D2A as ready",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2024-12-08T16:43:21.609179+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cc2d2a has been classified as Green List (High Evidence).",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2024-12-08T16:43:18.885223+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CC2D2A were changed from to COACH syndrome 2, MIM# 619111; Meckel syndrome 6, MIM#612284",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2024-12-08T16:42:18.668424+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CC2D2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2024-12-08T16:41:46.751544+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CC2D2A: Changed phenotypes: COACH syndrome 2, MIM# 619111, Meckel syndrome 6, MIM#612284",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2024-12-08T16:41:27.078153+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CC2D2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: COACH syndrome 2, MIM# 619111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2024-12-08T13:46:52.480943+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AMACR as ready",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2024-12-08T13:46:52.461205+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: amacr has been classified as Green List (High Evidence).",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2024-12-08T13:46:35.941887+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AMACR were changed from to Bile acid synthesis defect, congenital, 4, MIM# 214950",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2024-12-08T13:46:03.688438+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AMACR were set to ",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2024-12-08T13:45:31.764720+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AMACR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2024-12-08T13:44:57.614819+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AMACR: Rating: GREEN; Mode of pathogenicity: None; Publications: 31951345, 24735479, 12512044, 10655068, 34267495, 33047465; Phenotypes: Bile acid synthesis defect, congenital, 4, MIM# 214950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2024-12-08T13:07:05.257176+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-12-08T13:04:52.909064+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SERPINH1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SERPINH1",
"entity_type": "gene"
},
{
"created": "2024-12-08T13:04:19.061947+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SERPINH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SERPINH1",
"entity_type": "gene"
},
{
"created": "2024-12-08T13:03:41.153146+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SERPINH1 were set to 33524049",
"entity_name": "SERPINH1",
"entity_type": "gene"
},
{
"created": "2024-12-08T13:02:56.675736+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SERPINH1 were set to ",
"entity_name": "SERPINH1",
"entity_type": "gene"
},
{
"created": "2024-12-08T13:02:09.918207+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SERPINH1 were changed from Osteogenesis imperfecta, type X, MIM#\t613848 to Osteogenesis imperfecta, type X, MIM#\t613848",
"entity_name": "SERPINH1",
"entity_type": "gene"
},
{
"created": "2024-12-08T13:01:35.777016+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SERPINH1 were changed from to Osteogenesis imperfecta, type X, MIM#\t613848",
"entity_name": "SERPINH1",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:58:56.089498+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANO5 as ready",
"entity_name": "ANO5",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:58:56.072149+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ano5 has been classified as Green List (High Evidence).",
"entity_name": "ANO5",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:58:39.957024+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL1A1 as ready",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:58:39.935875+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col1a1 has been classified as Green List (High Evidence).",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:58:09.963035+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL1A1 were changed from to combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 MONDO:0030854; Osteogenesis imperfecta type 1 MONDO:0008146; Osteogenesis imperfecta type 2 MONDO:0008147; Osteogenesis imperfecta type 3 MONDO:0009804; Osteogenesis imperfecta type 4; MONDO:0008148",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:57:36.440098+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL1A1 were set to ",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:57:03.756192+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL1A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:56:22.228667+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL1A2 as ready",
"entity_name": "COL1A2",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:56:22.213788+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col1a2 has been classified as Green List (High Evidence).",
"entity_name": "COL1A2",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:56:18.066765+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL1A2 were changed from to Osteogenesis imperfecta type 1 MONDO:0008146; Osteogenesis imperfecta type 2 MONDO:0008147; Osteogenesis imperfecta type 3 MONDO:0009804; Osteogenesis imperfecta type 4 MONDO:0008148",
"entity_name": "COL1A2",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:55:41.286129+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL1A2 were set to ",
"entity_name": "COL1A2",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:55:08.352327+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL1A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL1A2",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:54:25.290717+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FKBP10 as ready",
"entity_name": "FKBP10",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:54:25.276259+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fkbp10 has been classified as Green List (High Evidence).",
"entity_name": "FKBP10",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:54:20.437119+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FKBP10 were changed from to osteogenesis imperfecta type 11 MONDO:0012592; Bruck syndrome MONDO:0017195",
"entity_name": "FKBP10",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:53:47.457807+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FKBP10 were set to ",
"entity_name": "FKBP10",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:53:16.633000+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FKBP10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FKBP10",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:52:31.380942+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LRP5 as ready",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:52:31.364456+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrp5 has been classified as Green List (High Evidence).",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:52:26.835713+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LRP5 were changed from to osteoporosis-pseudoglioma syndrome MONDO:0009820",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:51:55.143732+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LRP5 were set to ",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:51:28.260005+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LRP5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:50:47.991569+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLS3 as ready",
"entity_name": "PLS3",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:50:47.972015+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pls3 has been classified as Green List (High Evidence).",
"entity_name": "PLS3",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:50:43.905284+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLS3 were changed from to X-linked osteoporosis with fractures MONDO:0018315",
"entity_name": "PLS3",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:41:58.994430+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLS3 were set to ",
"entity_name": "PLS3",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:41:21.934127+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PLS3 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "PLS3",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:40:15.593393+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: APTX as ready",
"entity_name": "APTX",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:40:15.560455+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aptx has been classified as Green List (High Evidence).",
"entity_name": "APTX",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:40:11.056206+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: APTX were set to ",
"entity_name": "APTX",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:39:21.211745+11:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL3A1 were set to 30071989",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:38:28.355786+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP13A2 as ready",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:38:28.331927+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp13a2 has been classified as Green List (High Evidence).",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:38:24.649742+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP13A2 were changed from Parkinson disease; Kufor-Rakeb syndrome 606693; Dystonia to Kufor-Rakeb syndrome MIM#606693",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:38:04.654411+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP13A2 were set to ",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:37:29.249033+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BCAP31 as ready",
"entity_name": "BCAP31",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:37:29.232000+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bcap31 has been classified as Green List (High Evidence).",
"entity_name": "BCAP31",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:37:26.682867+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BCAP31 were changed from Deafness, dystonia and cerebellar hypomyelination, 300475 to Deafness, dystonia and cerebellar hypomyelination, MIM#300475",
"entity_name": "BCAP31",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:37:12.505417+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BCAP31 were set to ",
"entity_name": "BCAP31",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:36:29.911924+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C19orf12 as ready",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:36:29.886420+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c19orf12 has been classified as Green List (High Evidence).",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:36:17.240541+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C19orf12 were changed from mitochondrial membrane protein-associated neurodegeneration; neurodegeneration with brain iron accumulation-4; Dystonia to neurodegeneration with brain iron accumulation 4 MONDO:0013674",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:35:54.777589+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C19orf12 were set to ",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:34:23.937839+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-12-08T12:34:03.135012+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TWNK as ready",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:34:03.114972+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: twnk has been classified as Green List (High Evidence).",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:33:54.813935+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TWNK were changed from Perrault syndrome 5; MIM# 616138 to Perrault syndrome 5, MIM# 616138",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:33:28.519431+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TWNK were set to PMID: 25355836, 31852434, 31455392",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:31:40.207888+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLR1C as ready",
"entity_name": "POLR1C",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:31:40.196773+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr1c has been classified as Red List (Low Evidence).",
"entity_name": "POLR1C",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:31:36.401845+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POLR1C were set to PMID: 26151409, 32042905, 33005949, ............22855961",
"entity_name": "POLR1C",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:28:00.577865+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AXL as ready",
"entity_name": "AXL",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:28:00.560388+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: axl has been classified as Red List (Low Evidence).",
"entity_name": "AXL",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:27:18.122848+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOX2 as ready",
"entity_name": "SOX2",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:27:18.091094+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox2 has been classified as Green List (High Evidence).",
"entity_name": "SOX2",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:26:56.249650+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLR3B as ready",
"entity_name": "POLR3B",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:26:56.224959+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr3b has been classified as Green List (High Evidence).",
"entity_name": "POLR3B",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:26:52.522903+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POLR3B were set to PubMed: 27512013, 23355746, 22036171, 22036172, 25339210, 33005949, 22855961",
"entity_name": "POLR3B",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:25:51.200909+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLR3A as ready",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:25:51.179196+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr3a has been classified as Green List (High Evidence).",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:25:44.550203+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POLR3A were set to PubMed: 21855841, 25339210, 33005949, 22855961",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:24:53.053512+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MARS2 as ready",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:24:53.039519+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mars2 has been classified as Green List (High Evidence).",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2024-12-08T12:24:49.727681+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MARS2 were set to PMID: 27650058, 21464306, 27087618",
"entity_name": "MARS2",
"entity_type": "gene"
}
]
}