HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=298",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=296",
"results": [
{
"created": "2025-02-04T18:35:40.853246+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1424",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RTTN were set to ",
"entity_name": "RTTN",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:34:58.548453+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ROGDI as ready",
"entity_name": "ROGDI",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:34:58.534998+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rogdi has been classified as Green List (High Evidence).",
"entity_name": "ROGDI",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:34:23.787543+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ROGDI were changed from Kohlschutter-Tonz syndrome, 226750 (3) to Kohlschutter-Tonz syndrome MIM#226750",
"entity_name": "ROGDI",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:34:07.242662+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ROGDI were set to ",
"entity_name": "ROGDI",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:21:34.215802+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SBF2 as ready",
"entity_name": "SBF2",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:21:34.201272+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sbf2 has been classified as Green List (High Evidence).",
"entity_name": "SBF2",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:21:29.918599+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SBF2 were changed from Charcot-Marie-Tooth disease, type 4B2, 604563 (3) to Charcot-Marie-Tooth disease, type 4B2 , MIM#604563, MONDO:0011475",
"entity_name": "SBF2",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:21:15.620390+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SBF2 were set to ",
"entity_name": "SBF2",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:21:01.450372+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SBF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4B2 , MIM#604563, MONDO:0011475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SBF2",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:19:12.802236+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAB18 as ready",
"entity_name": "RAB18",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:19:12.782025+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab18 has been classified as Green List (High Evidence).",
"entity_name": "RAB18",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:19:09.817434+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAB18 were changed from Warburg micro syndrome 3, 614222 (3) to Warburg micro syndrome 3 MIM#614222",
"entity_name": "RAB18",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:18:58.867025+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAB18 were set to ",
"entity_name": "RAB18",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:18:37.333264+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PXDN as ready",
"entity_name": "PXDN",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:18:37.320499+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pxdn has been classified as Green List (High Evidence).",
"entity_name": "PXDN",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:18:33.889006+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PXDN were changed from Corneal opacification and other ocular anomalies, 269400 (3) to Anterior segment dysgenesis 7, with sclerocornea, MIM#269400",
"entity_name": "PXDN",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:18:17.794225+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PXDN were set to ",
"entity_name": "PXDN",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:17:48.187106+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SERPINF1 as ready",
"entity_name": "SERPINF1",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:17:48.174994+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: serpinf1 has been classified as Green List (High Evidence).",
"entity_name": "SERPINF1",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:17:44.260457+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SERPINF1 were changed from Osteogenesis imperfecta, type VI, 613982 (3) to Osteogenesis imperfecta, type VI, MIM# 613982; MONDO:0013515",
"entity_name": "SERPINF1",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:17:31.823019+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SERPINF1 were set to ",
"entity_name": "SERPINF1",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:16:54.630984+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SC5D as ready",
"entity_name": "SC5D",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:16:54.618603+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sc5d has been classified as Green List (High Evidence).",
"entity_name": "SC5D",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:16:24.041294+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SC5D were changed from Lathosterolosis, 607330 (3) to Lathosterolosis, MIM#607330",
"entity_name": "SC5D",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:16:11.759448+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SC5D were set to ",
"entity_name": "SC5D",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:15:05.690203+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SFTPB as ready",
"entity_name": "SFTPB",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:15:05.676423+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sftpb has been classified as Green List (High Evidence).",
"entity_name": "SFTPB",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:15:01.189881+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SFTPB were changed from Surfactant metabolism dysfunction, pulmonary, 1, 265120 (3) to Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120",
"entity_name": "SFTPB",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:14:45.404602+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SFTPB were set to ",
"entity_name": "SFTPB",
"entity_type": "gene"
},
{
"created": "2025-02-04T17:53:51.693094+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.313",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SENP7 as Green List (high evidence)",
"entity_name": "SENP7",
"entity_type": "gene"
},
{
"created": "2025-02-04T17:53:51.676985+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.313",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: senp7 has been classified as Green List (High Evidence).",
"entity_name": "SENP7",
"entity_type": "gene"
},
{
"created": "2025-02-04T17:53:38.944884+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.312",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: SENP7: Rating: GREEN; Mode of pathogenicity: None; Publications: 37460201, 39763084, 38972567; Phenotypes: Arthrogryposis multiplex congenita, MONDO:0015168, SENP7-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SENP7",
"entity_type": "gene"
},
{
"created": "2025-02-04T17:53:00.846822+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SGCD as ready",
"entity_name": "SGCD",
"entity_type": "gene"
},
{
"created": "2025-02-04T17:53:00.833824+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sgcd has been classified as Green List (High Evidence).",
"entity_name": "SGCD",
"entity_type": "gene"
},
{
"created": "2025-02-04T17:52:55.360075+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SGCD were changed from Muscular dystrophy, limb-girdle, type 2F, 601287 (3) to Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287",
"entity_name": "SGCD",
"entity_type": "gene"
},
{
"created": "2025-02-04T17:52:42.460598+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1408",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SGCD were set to ",
"entity_name": "SGCD",
"entity_type": "gene"
},
{
"created": "2025-02-04T17:52:04.624150+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC2A2 as ready",
"entity_name": "SLC2A2",
"entity_type": "gene"
},
{
"created": "2025-02-04T17:52:04.606278+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc2a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC2A2",
"entity_type": "gene"
},
{
"created": "2025-02-04T17:52:00.930558+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC2A2 were changed from Fanconi-Bickel syndrome, 227810 (3) to Fanconi-Bickel syndrome, MIM# 227810",
"entity_name": "SLC2A2",
"entity_type": "gene"
},
{
"created": "2025-02-04T17:51:52.741568+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC2A2 were set to 30950137; 22145468",
"entity_name": "SLC2A2",
"entity_type": "gene"
},
{
"created": "2025-02-04T17:51:48.717805+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC2A2 were set to ",
"entity_name": "SLC2A2",
"entity_type": "gene"
},
{
"created": "2025-02-04T17:51:27.333198+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.416",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: SENP7 were set to PMID: 37460201",
"entity_name": "SENP7",
"entity_type": "gene"
},
{
"created": "2025-02-04T17:51:10.552015+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SGCA as ready",
"entity_name": "SGCA",
"entity_type": "gene"
},
{
"created": "2025-02-04T17:51:10.538195+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sgca has been classified as Green List (High Evidence).",
"entity_name": "SGCA",
"entity_type": "gene"
},
{
"created": "2025-02-04T17:51:05.025319+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SGCA were changed from Muscular dystrophy, limb-girdle, type 2D, 608099 (3) to Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099; autosomal recessive limb-girdle muscular dystrophy type 2D, MONDO:0011968",
"entity_name": "SGCA",
"entity_type": "gene"
},
{
"created": "2025-02-04T17:50:49.588503+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.415",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SENP7 as Green List (high evidence)",
"entity_name": "SENP7",
"entity_type": "gene"
},
{
"created": "2025-02-04T17:50:49.571051+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.415",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: senp7 has been classified as Green List (High Evidence).",
"entity_name": "SENP7",
"entity_type": "gene"
},
{
"created": "2025-02-04T17:50:47.435081+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SGCA were set to ",
"entity_name": "SGCA",
"entity_type": "gene"
},
{
"created": "2025-02-04T17:50:14.359889+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.414",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: SENP7: Rating: GREEN; Mode of pathogenicity: None; Publications: 37460201, 39763084, 38972567; Phenotypes: Arthrogryposis multiplex congenita, MONDO:0015168, SENP7-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SENP7",
"entity_type": "gene"
},
{
"created": "2025-02-04T17:49:22.760692+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNAP29 as ready",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2025-02-04T17:49:22.742917+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snap29 has been classified as Green List (High Evidence).",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2025-02-04T17:48:10.732105+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SNAP29 were set to ",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2025-02-04T17:47:40.724592+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: SMN1.",
"entity_name": "SMN1",
"entity_type": "gene"
},
{
"created": "2025-02-04T17:45:19.638200+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMN1 as ready",
"entity_name": "SMN1",
"entity_type": "gene"
},
{
"created": "2025-02-04T17:45:19.581340+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smn1 has been classified as Green List (High Evidence).",
"entity_name": "SMN1",
"entity_type": "gene"
},
{
"created": "2025-02-04T17:45:09.180445+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMN1 were changed from Spinal muscular atrophy-1, 253300 (3) to Spinal muscular atrophy-1, MIM# 253300, MONDO:0009669",
"entity_name": "SMN1",
"entity_type": "gene"
},
{
"created": "2025-02-04T17:44:55.909984+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMN1 were set to ",
"entity_name": "SMN1",
"entity_type": "gene"
},
{
"created": "2025-02-04T17:43:56.537692+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SMN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal muscular atrophy-1, MIM# 253300, MONDO:0009669; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SMN1",
"entity_type": "gene"
},
{
"created": "2025-02-04T17:42:02.418345+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOST as ready",
"entity_name": "SOST",
"entity_type": "gene"
},
{
"created": "2025-02-04T17:42:02.379170+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sost has been classified as Green List (High Evidence).",
"entity_name": "SOST",
"entity_type": "gene"
},
{
"created": "2025-02-04T17:41:50.462406+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOST were changed from Sclerosteosis 1, 269500 (3) to Sclerosteosis 1, OMIM#269500,MONDO:0010016",
"entity_name": "SOST",
"entity_type": "gene"
},
{
"created": "2025-02-04T17:41:36.388617+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SOST were set to ",
"entity_name": "SOST",
"entity_type": "gene"
},
{
"created": "2025-02-04T17:10:34.682696+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.145",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: NR6A1 as ready",
"entity_name": "NR6A1",
"entity_type": "gene"
},
{
"created": "2025-02-04T17:10:34.661493+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.145",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nr6a1 has been classified as Green List (High Evidence).",
"entity_name": "NR6A1",
"entity_type": "gene"
},
{
"created": "2025-02-04T17:07:36.476241+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.145",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NR6A1 as Green List (high evidence)",
"entity_name": "NR6A1",
"entity_type": "gene"
},
{
"created": "2025-02-04T17:07:36.464728+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.145",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nr6a1 has been classified as Green List (High Evidence).",
"entity_name": "NR6A1",
"entity_type": "gene"
},
{
"created": "2025-02-04T17:07:06.134598+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.43",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: NR6A1 as ready",
"entity_name": "NR6A1",
"entity_type": "gene"
},
{
"created": "2025-02-04T17:07:06.118169+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.43",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nr6a1 has been classified as Green List (High Evidence).",
"entity_name": "NR6A1",
"entity_type": "gene"
},
{
"created": "2025-02-04T17:05:36.972354+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.43",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NR6A1 as Green List (high evidence)",
"entity_name": "NR6A1",
"entity_type": "gene"
},
{
"created": "2025-02-04T17:05:36.956883+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.43",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nr6a1 has been classified as Green List (High Evidence).",
"entity_name": "NR6A1",
"entity_type": "gene"
},
{
"created": "2025-02-04T17:05:22.966765+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.144",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NR6A1 was added\ngene: NR6A1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature\nMode of inheritance for gene: NR6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NR6A1 were set to 39606382\nPhenotypes for gene: NR6A1 were set to Craniofacial microsomia MONDO:0015397\nReview for gene: NR6A1 was set to GREEN\nAdded comment: 6 unrelated families with heterozygous rare variants (missense, nonsense, frameshift, or large deletion) with incomplete penetrance and variable expressivity. Colobomatous microphthalmia, missing vertebrae and congenital kidney abnormalities characterised the phenotype of the families. Also, supporting zebrafish model. Loss of function is the expected mechanism of disease. \nSources: Literature",
"entity_name": "NR6A1",
"entity_type": "gene"
},
{
"created": "2025-02-04T17:05:07.593288+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.42",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NR6A1 was added\ngene: NR6A1 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature\nMode of inheritance for gene: NR6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NR6A1 were set to 39606382\nPhenotypes for gene: NR6A1 were set to Craniofacial microsomia MONDO:0015397\nReview for gene: NR6A1 was set to GREEN\nAdded comment: 6 unrelated families with heterozygous rare variants (missense, nonsense, frameshift, or large deletion) with incomplete penetrance and variable expressivity. Colobomatous microphthalmia, missing vertebrae and congenital kidney abnormalities characterised the phenotype of the families. Also, supporting zebrafish model. Loss of function is the expected mechanism of disease. \nSources: Literature",
"entity_name": "NR6A1",
"entity_type": "gene"
},
{
"created": "2025-02-04T17:02:15.556867+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2288",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: NR6A1 as ready",
"entity_name": "NR6A1",
"entity_type": "gene"
},
{
"created": "2025-02-04T17:02:15.542459+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2288",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nr6a1 has been classified as Green List (High Evidence).",
"entity_name": "NR6A1",
"entity_type": "gene"
},
{
"created": "2025-02-04T17:02:13.319384+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1397",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: SOST: Rating: GREEN; Mode of pathogenicity: None; Publications: 35160258, 21221996, 17853455, 30077757, 24594238; Phenotypes: Sclerosteosis 1, OMIM#269500,MONDO:0010016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SOST",
"entity_type": "gene"
},
{
"created": "2025-02-04T17:01:05.042139+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2288",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NR6A1 as Green List (high evidence)",
"entity_name": "NR6A1",
"entity_type": "gene"
},
{
"created": "2025-02-04T17:01:05.024727+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2288",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nr6a1 has been classified as Green List (High Evidence).",
"entity_name": "NR6A1",
"entity_type": "gene"
},
{
"created": "2025-02-04T17:00:43.088679+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2287",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NR6A1 was added\ngene: NR6A1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NR6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NR6A1 were set to 39606382\nPhenotypes for gene: NR6A1 were set to Craniofacial microsomia MONDO:0015397\nReview for gene: NR6A1 was set to GREEN\nAdded comment: 6 unrelated families with heterozygous rare variants (missense, nonsense, frameshift, or large deletion) with incomplete penetrance and variable expressivity. Colobomatous microphthalmia, missing vertebrae and congenital kidney abnormalities characterised the phenotype of the families. Also, supporting zebrafish model. Loss of function is the expected mechanism of disease. \nSources: Literature",
"entity_name": "NR6A1",
"entity_type": "gene"
},
{
"created": "2025-02-04T16:47:39.598222+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1397",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: SMN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7813012, 23788250, 39062735, 29904179, 33531827; Phenotypes: Spinal muscular atrophy-1, MIM# 253300, MONDO:0009669; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SMN1",
"entity_type": "gene"
},
{
"created": "2025-02-04T16:10:43.986717+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1397",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: SNAP29: Rating: GREEN; Mode of pathogenicity: None; Publications: 29051910, 21073448, 30793783, 33977139; Phenotypes: Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2025-02-04T16:07:23.956803+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1397",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: SGCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 30007747, 9192266, 34404573, 30989758; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099, autosomal recessive limb-girdle muscular dystrophy type 2D, MONDO:0011968; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SGCA",
"entity_type": "gene"
},
{
"created": "2025-02-04T16:06:53.507486+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1397",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: SLC2A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30950137, 22145468; Phenotypes: Fanconi-Bickel syndrome, MIM# 227810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC2A2",
"entity_type": "gene"
},
{
"created": "2025-02-04T16:03:50.662999+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1397",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: SGCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 8841194, 19259135, 20623375, 10838250, 10735275, 9832045, 30733730; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SGCD",
"entity_type": "gene"
},
{
"created": "2025-02-04T15:57:38.126454+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1397",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: SFTPB: Rating: GREEN; Mode of pathogenicity: None; Publications: 8163685, 8021783, 10378403, 10571948; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SFTPB",
"entity_type": "gene"
},
{
"created": "2025-02-04T15:55:07.515229+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1397",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: SC5D: Rating: GREEN; Mode of pathogenicity: None; Publications: 17853487, 12189593, 12812989, 24142275; Phenotypes: Lathosterolosis, MIM#607330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SC5D",
"entity_type": "gene"
},
{
"created": "2025-02-04T15:49:04.115888+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1397",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: SERPINF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21353196, 23054245, 37425194; Phenotypes: Osteogenesis imperfecta, type VI, MIM# 613982, MONDO:0013515; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SERPINF1",
"entity_type": "gene"
},
{
"created": "2025-02-04T15:17:01.228393+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1397",
"user_name": "Clare Hunt",
"item_type": "entity",
"text": "reviewed gene: PXDN: Rating: GREEN; Mode of pathogenicity: None; Publications: 21474777, 24939590, 21907015; Phenotypes: Anterior segment dysgenesis 7, with sclerocornea, MIM#269400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PXDN",
"entity_type": "gene"
},
{
"created": "2025-02-04T15:04:13.607364+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1397",
"user_name": "Clare Hunt",
"item_type": "entity",
"text": "reviewed gene: RAB18: Rating: GREEN; Mode of pathogenicity: None; Publications: 21473985, 20512159, 23420520, 23176487; Phenotypes: Warburg micro syndrome 3 MIM#614222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAB18",
"entity_type": "gene"
},
{
"created": "2025-02-04T14:54:46.219061+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1397",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: SBF2: Rating: ; Mode of pathogenicity: None; Publications: 12554688, 15477569, 12687498, 15304601, 31772832, 31070812; Phenotypes: Charcot-Marie-Tooth disease, type 4B2 , MIM#604563, MONDO:0011475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SBF2",
"entity_type": "gene"
},
{
"created": "2025-02-04T14:46:17.107024+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1397",
"user_name": "Clare Hunt",
"item_type": "entity",
"text": "reviewed gene: ROGDI: Rating: GREEN; Mode of pathogenicity: None; Publications: 22424600, 23086778, 8133980, 22482807; Phenotypes: Kohlschutter-Tonz syndrome MIM#226750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ROGDI",
"entity_type": "gene"
},
{
"created": "2025-02-04T14:45:14.199017+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1397",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: RTTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 30879067, 30121372, 29967526, 38178912; Phenotypes: Microcephaly, short stature, and polymicrogyria with seizures MIM#614833; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RTTN",
"entity_type": "gene"
},
{
"created": "2025-02-04T14:31:45.246985+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1397",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: RPGRIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25414380, 28456785, 24997176, 28559085, 33308271, 31666973, 39669618, 34722527; Phenotypes: Cone-rod dystrophy 13 MIM#608194, MONDO:0011987, Leber congenital amaurosis MIM#61382,MONDO:0013446; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RPGRIP1",
"entity_type": "gene"
},
{
"created": "2025-02-04T14:16:33.906864+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MRAP2 as ready",
"entity_name": "MRAP2",
"entity_type": "gene"
},
{
"created": "2025-02-04T14:16:33.877894+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrap2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MRAP2",
"entity_type": "gene"
},
{
"created": "2025-02-04T14:16:23.190464+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MRAP2 as Amber List (moderate evidence)",
"entity_name": "MRAP2",
"entity_type": "gene"
},
{
"created": "2025-02-04T14:16:23.163384+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrap2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MRAP2",
"entity_type": "gene"
},
{
"created": "2025-02-04T14:16:01.387419+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MRAP2 was added\ngene: MRAP2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MRAP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MRAP2 were set to 23869016; 31700171; 27474872; 26795956\nPhenotypes for gene: MRAP2 were set to Susceptibility to obesity, MIM#615457\nReview for gene: MRAP2 was set to AMBER\nAdded comment: Multiple studies supporting association between rare variants and obesity; however ?monogenic vs susceptibility alleles. \nSources: Literature",
"entity_name": "MRAP2",
"entity_type": "gene"
},
{
"created": "2025-02-04T14:15:39.223718+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1397",
"user_name": "Clare Hunt",
"item_type": "entity",
"text": "reviewed gene: SAR1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 12692552, 3792776, 18786134; Phenotypes: Chylomicron retention disease MIM#246700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SAR1B",
"entity_type": "gene"
},
{
"created": "2025-02-04T14:14:11.449584+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MRAP2 as Amber List (moderate evidence)",
"entity_name": "MRAP2",
"entity_type": "gene"
}
]
}