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{
"count": 221370,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=341",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=339",
"results": [
{
"created": "2024-11-21T13:59:01.094402+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD27 as ready",
"entity_name": "CD27",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:59:01.084621+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd27 has been classified as Green List (High Evidence).",
"entity_name": "CD27",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:58:57.786438+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CD27 were changed from Lymphoproliferative syndrome 2, 615122 (3) to Lymphoproliferative syndrome 2, MIM# 615122",
"entity_name": "CD27",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:58:46.804103+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CD27 were set to ",
"entity_name": "CD27",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:58:33.112368+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CD27: Rating: GREEN; Mode of pathogenicity: None; Publications: 22197273, 22801960, 22365582, 25843314, 11062504; Phenotypes: Lymphoproliferative syndrome 2, MIM# 615122; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CD27",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:57:06.258947+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.579",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: MGP: Rating: GREEN; Mode of pathogenicity: None; Publications: 37675773; Phenotypes: Keutel syndrome MIM#245150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MGP",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:57:00.758255+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CAVIN1 as ready",
"entity_name": "CAVIN1",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:57:00.745327+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cavin1 has been classified as Green List (High Evidence).",
"entity_name": "CAVIN1",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:56:57.817619+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CAVIN1 were changed from Lipodystrophy, congenital generalized, type 4, 613327 (3) to Lipodystrophy, congenital generalized, type 4, MIM# 613327; MONDO:0013225",
"entity_name": "CAVIN1",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:56:46.358158+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CAVIN1 were set to ",
"entity_name": "CAVIN1",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:56:31.953761+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CAVIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19726876, 20300641, 20684003, 18840361; Phenotypes: Lipodystrophy, congenital generalized, type 4, MIM# 613327, MONDO:0013225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CAVIN1",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:53:37.155743+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCB4 as ready",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:53:37.144787+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcb4 has been classified as Green List (High Evidence).",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:53:34.007174+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCB4 were changed from Cholestasis, progressive familial intrahepatic 3, 602347 (3) to Cholestasis, progressive familial intrahepatic 3 MIM#602347",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:53:22.118658+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABCB4 were set to ",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:53:09.642970+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 17726488; Phenotypes: Cholestasis, progressive familial intrahepatic 3 MIM#602347; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:52:10.206971+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.575",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: MBTPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32420688, 30046013, 32857899, 36330313, 36816387, 36714646; Phenotypes: Spondyloepiphyseal dysplasia, Kondo-Fu type MIM#618392; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MBTPS1",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:49:34.066423+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CANT1 as ready",
"entity_name": "CANT1",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:49:34.049258+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cant1 has been classified as Green List (High Evidence).",
"entity_name": "CANT1",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:49:30.899772+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CANT1 were changed from Desbuquois dysplasia, 251450 (3) to Desbuquois dysplasia 1, MIM# 251450; Epiphyseal dysplasia, multiple, 7, MIM# 617719",
"entity_name": "CANT1",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:49:19.272803+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CANT1 were set to ",
"entity_name": "CANT1",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:49:01.454367+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CANT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19853239, 21037275, 28742282; Phenotypes: Desbuquois dysplasia 1, MIM# 251450, Epiphyseal dysplasia, multiple, 7, MIM# 617719; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CANT1",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:47:52.884333+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C2CD3 as ready",
"entity_name": "C2CD3",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:47:52.869840+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c2cd3 has been classified as Green List (High Evidence).",
"entity_name": "C2CD3",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:47:48.650470+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C2CD3 were changed from Orofaciodigital syndrome XIV to Orofaciodigital syndrome XIV, MIM# 615948; MONDO:0014413",
"entity_name": "C2CD3",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:47:45.977408+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.572",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: LBR: Rating: GREEN; Mode of pathogenicity: None; Publications: 12618959, 27604308, 29068549, 32304187; Phenotypes: Greenberg skeletal dysplasia MIM#215140, MONDO:0008974 & Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly MIM#618019; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LBR",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:47:36.684699+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C2CD3 were set to ",
"entity_name": "C2CD3",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:47:19.670488+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C2CD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24997988, 26477546, 27094867, 30097616, 33875766; Phenotypes: Orofaciodigital syndrome XIV, MIM# 615948, MONDO:0014413; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C2CD3",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:46:36.232163+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.571",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "FKBP10",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:46:23.862423+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.571",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "edited their review of gene: FKBP10: Added comment: Severe, early onset. Early-onset bone fractures and progressive skeletal deformities. Well established gene-disease association.; Changed phenotypes: Bruck syndrome 1, 259450 (3), osteogenesis imperfecta, type XI, 610968 (3)",
"entity_name": "FKBP10",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:45:56.726414+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C12orf65 as ready",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:45:56.698757+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c12orf65 has been classified as Green List (High Evidence).",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:45:49.243788+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C12orf65 were changed from Combined oxidative phosphorylation deficiency 7, 613559 (3) to Combined oxidative phosphorylation deficiency 7, MIM# 613559; Spastic paraplegia 55, autosomal recessive, MIM#615035",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:45:37.319769+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C12orf65 were set to ",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:45:25.840163+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: C12orf65.",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:45:18.006883+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: None; Publications: 23188110, 24080142, 24198383, 20598281, 32808965, 32478789, 28804760; Phenotypes: Combined oxidative phosphorylation deficiency 7, MIM# 613559, Spastic paraplegia 55, autosomal recessive, MIM#615035; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:44:49.338690+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.569",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: FKBP10: Rating: GREEN; Mode of pathogenicity: None; Publications: 20362275, 22718341, 22689593, 22718341; Phenotypes: Bruck syndrome 1, 259450 (3), steogenesis imperfecta, type XI, 610968 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FKBP10",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:40:37.956745+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BMPR1B as ready",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:40:37.925809+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bmpr1b has been classified as Green List (High Evidence).",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:40:34.670061+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BMPR1B were changed from Acromesomelic dysplasia, Demirhan type, 609441 (3), Autosomal recessive to Acromesomelic dysplasia 3, MIM# 609441",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:40:08.260343+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BMPR1B were set to ",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:39:55.051464+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BMPR1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 15805157, 24129431, 26105076; Phenotypes: Acromesomelic dysplasia 3, MIM# 609441; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:36:56.274815+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.567",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: MALT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 3727036, 24332264, 14576442, 31037583; Phenotypes: Immunodeficiency 12 MIM#615468; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MALT1",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:36:55.203410+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BLM as ready",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:36:55.177866+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: blm has been classified as Green List (High Evidence).",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:36:52.320364+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BLM were changed from Bloom syndrome, 210900 (3) to Bloom Syndrome MIM# 210900",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:36:40.892614+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BLM were set to ",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:36:22.135976+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: None; Publications: 17407155, 9285778, 7585968, 8079989, 12242442, 11101838; Phenotypes: Bloom Syndrome MIM# 210900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:29:32.593841+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: APTX as ready",
"entity_name": "APTX",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:29:32.574938+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.565",
"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": "2024-11-21T13:29:25.587612+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: APTX were changed from Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 (3) to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920",
"entity_name": "APTX",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:29:13.134985+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: APTX were set to ",
"entity_name": "APTX",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:28:58.068582+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: APTX: Rating: GREEN; Mode of pathogenicity: None; Publications: 30986824, 26256098, 11586299; Phenotypes: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "APTX",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:27:50.359813+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG6 as ready",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:27:50.341250+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg6 has been classified as Green List (High Evidence).",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:27:46.691592+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG6 were changed from Congenital disorder of glycosylation, type Ic, 603147 (3) to Congenital disorder of glycosylation, type Ic (MIM#603147)",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:27:34.291150+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALG6 were set to ",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:27:19.630947+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALG6: Rating: GREEN; Mode of pathogenicity: None; Publications: 27498540; Phenotypes: Congenital disorder of glycosylation, type Ic (MIM#603147); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:26:08.015168+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.561",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: LARP7: Rating: GREEN; Mode of pathogenicity: None; Publications: 22865833, 21937992, 30006060, 33569879, 36126956, 37529055; Phenotypes: Alazami syndrome MIM#615071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LARP7",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:23:36.071681+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGPS as ready",
"entity_name": "AGPS",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:23:36.057498+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agps has been classified as Green List (High Evidence).",
"entity_name": "AGPS",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:23:32.167746+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AGPS were changed from Chondrodysplasia punctata, rhizomelic, type 3, 600121 (3) to Rhizomelic chondrodysplasia punctata, type 3, MIM# 600121",
"entity_name": "AGPS",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:23:19.814751+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.560",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AGPS were set to ",
"entity_name": "AGPS",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:23:03.853561+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AGPS: Rating: GREEN; Mode of pathogenicity: None; Publications: 9553082, 8611652, 21990100; Phenotypes: Rhizomelic chondrodysplasia punctata, type 3, MIM# 600121; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGPS",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:21:37.861092+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.559",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: FA2H: Rating: GREEN; Mode of pathogenicity: None; Publications: 31135052, 31837835, 22146942, 19068277; Phenotypes: Spastic paraplegia 35, autosomal recessive, 612319 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:18:06.597691+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACAT1 as ready",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:18:06.585971+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acat1 has been classified as Green List (High Evidence).",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:18:02.440466+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACAT1 were changed from Alpha-methylacetoacetic aciduria, 203750 (3) to Alpha-methylacetoacetic aciduria, MIM#203750",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:17:49.446764+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACAT1 were set to ",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:17:35.200659+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17236799, 1715688; Phenotypes: Alpha-methylacetoacetic aciduria, MIM#203750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2024-11-21T12:34:24.885739+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.557",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23746551, 24103911; Phenotypes: Spastic paraplegia 26, MIM# 609195; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2024-11-21T11:41:18.589667+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.557",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: ATF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 26063662, 26029869; Phenotypes: Achromatopsia 7, MIM# 616517; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATF6",
"entity_type": "gene"
},
{
"created": "2024-11-21T09:40:52.874579+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2147",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: ATP5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34483339, 34954817, 23599390, 23596069; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A (MIM#620358), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP5A1",
"entity_type": "gene"
},
{
"created": "2024-11-20T17:24:58.628913+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.557",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: FOXP3 as ready",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2024-11-20T17:24:58.615654+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.557",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: foxp3 has been classified as Green List (High Evidence).",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2024-11-20T17:24:43.778188+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.557",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: FOXP3 were set to ",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2024-11-20T17:19:10.698730+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.556",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: ACE as ready",
"entity_name": "ACE",
"entity_type": "gene"
},
{
"created": "2024-11-20T17:19:10.684938+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.556",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: ace has been classified as Green List (High Evidence).",
"entity_name": "ACE",
"entity_type": "gene"
},
{
"created": "2024-11-20T17:17:27.994250+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.556",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: ACE were set to ",
"entity_name": "ACE",
"entity_type": "gene"
},
{
"created": "2024-11-20T17:16:07.956921+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.555",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: EYS were set to 31074760; 20537394; 31074760",
"entity_name": "EYS",
"entity_type": "gene"
},
{
"created": "2024-11-20T17:15:47.445923+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.554",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: EYS were set to 31074760",
"entity_name": "EYS",
"entity_type": "gene"
},
{
"created": "2024-11-20T12:42:56.217664+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.553",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: GUCY1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 36941667; Phenotypes: Moyamoya 6 with achalasia, MIM#615750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GUCY1A3",
"entity_type": "gene"
},
{
"created": "2024-11-20T12:24:09.526041+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "1.11",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: GTF2H5: Rating: GREEN; Mode of pathogenicity: None; Publications: 24986372, 30359777, 37356817; Phenotypes: Trichothiodystrophy 3, photosensitive, MIM# 616395; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2024-11-20T12:19:45.061197+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.553",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: GTF2H5: Rating: GREEN; Mode of pathogenicity: None; Publications: 30359777, 24986372, 37356817; Phenotypes: Trichothiodystrophy 3, photosensitive, MIM# 616395; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2024-11-20T11:22:56.168445+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.553",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: GRM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22901947, 26308914, 31319223; Phenotypes: Spinocerebellar ataxia, autosomal recessive 13, 614831; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GRM1",
"entity_type": "gene"
},
{
"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"
}
]
}