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{
"count": 220842,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=720",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=718",
"results": [
{
"created": "2022-10-08T19:37:18.417792+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.504",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: SCN1A were set to ",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2022-10-08T19:36:57.193756+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.503",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SCN1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301494; Phenotypes: Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2022-10-08T13:03:59.505371+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.503",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: VPS33B: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 15052268, 15052268, 18853461; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis MIM#208085; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2022-10-08T12:53:22.400540+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.503",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: VPS45: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30294941, PMID: 32037586, PMID: 23738510; Phenotypes: Neutropenia, severe congenital, 5, MIM# 615285; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2022-10-08T12:41:05.919252+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.503",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301357; Phenotypes: Wiskott-Aldrich syndrome MIM#301000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2022-10-08T12:23:40.093619+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.503",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: WDR62: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 35188728; Phenotypes: Microcephaly 2, primary, autosomal recessive, with or without cortical malformations MIM#604317; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR62",
"entity_type": "gene"
},
{
"created": "2022-10-08T12:19:17.421807+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.503",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: WFS1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301750, PMID: 11317350, PMID: 20738327, PMID: 31337416; Phenotypes: Wolfram syndrome MIM#222300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WFS1",
"entity_type": "gene"
},
{
"created": "2022-10-08T05:06:46.686142+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.503",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "commented on gene: WHRN: Definitive gene disease association Usher, moderate evidence it can also cause a non syndromic hearing loss phenotype. \r\nCongenital hearing impairment, childhood onset visual loss \r\nTreatment supportive, clinical trials for retinitis pigmentosa\r\n\r\n*I think we should keep hearing loss genes on as it's part of traditional newborn screening*",
"entity_name": "WHRN",
"entity_type": "gene"
},
{
"created": "2022-10-08T05:04:58.178340+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.503",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: WHRN: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID:26338283, PMID:22147658, PMID:17171570, PMID:21738389; Phenotypes: Usher syndrome, type 2D MIM# 611383; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WHRN",
"entity_type": "gene"
},
{
"created": "2022-10-07T23:57:40.547576+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.503",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: WRAP53: Rating: RED; Mode of pathogenicity: None; Publications: PMID:21205863, 19250907, 20301779; Phenotypes: dyskeratosis congenita MIM#613988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WRAP53",
"entity_type": "gene"
},
{
"created": "2022-10-07T23:34:24.103810+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.503",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: WRN: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301687; Phenotypes: Werner syndrome MIM#277700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WRN",
"entity_type": "gene"
},
{
"created": "2022-10-07T23:26:52.619875+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.503",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: XIAP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:22228567, 20489057, 17080092, 24942515, 25943627; Phenotypes: Lymphoproliferative syndrome, X-linked, 2 MIM#300635; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "XIAP",
"entity_type": "gene"
},
{
"created": "2022-10-07T19:53:42.305853+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "List of related panels changed from to Nystagmus HP:0000639",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-10-07T19:50:02.585712+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "List of related panels changed from to Fatiguable weakness HP:0003473;Hypotonia HP:0001252",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-10-07T18:52:26.354267+11:00",
"panel_name": "Oligodontia",
"panel_id": 148,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "List of related panels changed from to Abnormal number of teeth HP:0006483\nPanel types changed to Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-10-07T18:51:03.199807+11:00",
"panel_name": "Oligodontia",
"panel_id": 148,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IKBKG as ready",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2022-10-07T18:51:03.170400+11:00",
"panel_name": "Oligodontia",
"panel_id": 148,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ikbkg has been classified as Green List (High Evidence).",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2022-10-07T18:51:00.465236+11:00",
"panel_name": "Oligodontia",
"panel_id": 148,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IKBKG were changed from to Ectodermal dysplasia and immunodeficiency 1, MIM# 300291; Immunodeficiency 33 , MIM#300636; Incontinentia pigmenti, MIM# 308300",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2022-10-07T18:50:34.960465+11:00",
"panel_name": "Oligodontia",
"panel_id": 148,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IKBKG was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2022-10-07T18:50:05.715208+11:00",
"panel_name": "Oligodontia",
"panel_id": 148,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: IKBKG.",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2022-10-07T18:49:48.804551+11:00",
"panel_name": "Oligodontia",
"panel_id": 148,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EDARADD as ready",
"entity_name": "EDARADD",
"entity_type": "gene"
},
{
"created": "2022-10-07T18:49:48.778046+11:00",
"panel_name": "Oligodontia",
"panel_id": 148,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: edaradd has been classified as Green List (High Evidence).",
"entity_name": "EDARADD",
"entity_type": "gene"
},
{
"created": "2022-10-07T18:49:45.728902+11:00",
"panel_name": "Oligodontia",
"panel_id": 148,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EDARADD were changed from to autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884; autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619",
"entity_name": "EDARADD",
"entity_type": "gene"
},
{
"created": "2022-10-07T18:49:16.104576+11:00",
"panel_name": "Oligodontia",
"panel_id": 148,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EDARADD were set to ",
"entity_name": "EDARADD",
"entity_type": "gene"
},
{
"created": "2022-10-07T18:48:45.123633+11:00",
"panel_name": "Oligodontia",
"panel_id": 148,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EDARADD was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "EDARADD",
"entity_type": "gene"
},
{
"created": "2022-10-07T18:48:12.336209+11:00",
"panel_name": "Oligodontia",
"panel_id": 148,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EDAR as ready",
"entity_name": "EDAR",
"entity_type": "gene"
},
{
"created": "2022-10-07T18:48:12.327631+11:00",
"panel_name": "Oligodontia",
"panel_id": 148,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: edar has been classified as Green List (High Evidence).",
"entity_name": "EDAR",
"entity_type": "gene"
},
{
"created": "2022-10-07T18:48:06.198810+11:00",
"panel_name": "Oligodontia",
"panel_id": 148,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EDAR were changed from to autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884; autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619",
"entity_name": "EDAR",
"entity_type": "gene"
},
{
"created": "2022-10-07T18:44:34.732951+11:00",
"panel_name": "Oligodontia",
"panel_id": 148,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EDAR were set to ",
"entity_name": "EDAR",
"entity_type": "gene"
},
{
"created": "2022-10-07T18:44:03.536987+11:00",
"panel_name": "Oligodontia",
"panel_id": 148,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EDAR was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "EDAR",
"entity_type": "gene"
},
{
"created": "2022-10-07T18:43:32.173407+11:00",
"panel_name": "Oligodontia",
"panel_id": 148,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EDA as ready",
"entity_name": "EDA",
"entity_type": "gene"
},
{
"created": "2022-10-07T18:43:32.164967+11:00",
"panel_name": "Oligodontia",
"panel_id": 148,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eda has been classified as Green List (High Evidence).",
"entity_name": "EDA",
"entity_type": "gene"
},
{
"created": "2022-10-07T18:43:28.867986+11:00",
"panel_name": "Oligodontia",
"panel_id": 148,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EDA were changed from to Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100; Tooth agenesis, selective, X-linked 1 MIM#313500",
"entity_name": "EDA",
"entity_type": "gene"
},
{
"created": "2022-10-07T18:42:56.722943+11:00",
"panel_name": "Oligodontia",
"panel_id": 148,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EDA were set to ",
"entity_name": "EDA",
"entity_type": "gene"
},
{
"created": "2022-10-07T18:42:18.538161+11:00",
"panel_name": "Oligodontia",
"panel_id": 148,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EDA was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "EDA",
"entity_type": "gene"
},
{
"created": "2022-10-07T18:41:18.093523+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "List of related panels changed from to Hypothyroidism HP:0000821",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-10-07T18:40:19.977542+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.267",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "List of related panels changed from to Abnormal heart morphology HP:0001627",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-10-07T18:39:01.724576+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "List of related panels changed from to Diarrhea HP:0002014",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-10-07T18:37:47.568545+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "List of related panels changed from to Congenital diaphragmatic hernia HP:0000776",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-10-07T18:36:35.054759+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "List of related panels changed from to Abnormality of the urinary system HP:0000079",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-10-07T18:15:38.294370+11:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "List of related panels changed from to Abnormal cortical gyration HP:0002536",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-10-07T18:09:35.086659+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "List of related panels changed from to Oral cleft HP:0000202",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-10-07T18:08:25.140086+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "List of related panels changed from Ciliary dyskinesia HP:0012265 to Ciliary dyskinesia HP:0012265;Recurrent respiratory infections HP:0002205",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-10-07T18:07:48.949416+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "List of related panels changed from to Ciliary dyskinesia HP:0012265",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-10-07T18:06:06.783148+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "List of related panels changed from to Chromosome breakage HP:0040012",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-10-07T18:03:56.502438+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.237",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "List of related panels changed from to Cholestasis HP:0001396",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-10-07T18:02:52.480548+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "List of related panels changed from to Choanal atresia HP:0000453",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-10-07T18:01:13.151911+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "List of related panels changed from to Abnormal cerebral vascular morphology HP:0100659",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-10-07T18:00:07.609363+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "List of related panels changed from to Cerebral palsy HP:0100021",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-10-07T17:58:34.833425+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.57",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "List of related panels changed from to Aplasia/hypoplasia of the cerebellum HP:0007360;Pontocerebellar atrophy HP:0006879",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-10-07T17:56:13.195418+11:00",
"panel_name": "Central Hypoventilation",
"panel_id": 71,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "List of related panels changed from to Central hypoventilation HP:0007110",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-10-07T17:55:01.503644+11:00",
"panel_name": "Catecholaminergic Polymorphic Ventricular Tachycardia",
"panel_id": 92,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "List of related panels changed from to Polymorphic ventricular tachycardia HP:0031677",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-10-07T17:13:38.583662+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.503",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GAA as ready",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2022-10-07T17:13:38.574741+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.503",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gaa has been classified as Green List (High Evidence).",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2022-10-07T17:13:35.766911+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.503",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GAA were changed from Glycogen storage disease II, MIM#232300 to Glycogen storage disease II, Pompe disease, MIM# 232300",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2022-10-07T17:13:20.157872+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.502",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: GAA.",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2022-10-07T17:12:53.765929+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAMTSL2 as ready",
"entity_name": "ADAMTSL2",
"entity_type": "gene"
},
{
"created": "2022-10-07T17:12:53.747469+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adamtsl2 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTSL2",
"entity_type": "gene"
},
{
"created": "2022-10-07T17:12:49.337101+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADAMTSL2 as Green List (high evidence)",
"entity_name": "ADAMTSL2",
"entity_type": "gene"
},
{
"created": "2022-10-07T17:12:49.327226+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adamtsl2 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTSL2",
"entity_type": "gene"
},
{
"created": "2022-10-07T17:11:48.560656+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.502",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: SBDS.",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2022-10-07T17:11:18.491043+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACAN as ready",
"entity_name": "ACAN",
"entity_type": "gene"
},
{
"created": "2022-10-07T17:11:18.482074+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acan has been classified as Green List (High Evidence).",
"entity_name": "ACAN",
"entity_type": "gene"
},
{
"created": "2022-10-07T17:11:14.031006+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACAN as Green List (high evidence)",
"entity_name": "ACAN",
"entity_type": "gene"
},
{
"created": "2022-10-07T17:11:14.022710+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acan has been classified as Green List (High Evidence).",
"entity_name": "ACAN",
"entity_type": "gene"
},
{
"created": "2022-10-07T17:10:16.074522+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.502",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: SAMHD1.",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2022-10-07T17:09:22.650552+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACP5 as Green List (high evidence)",
"entity_name": "ACP5",
"entity_type": "gene"
},
{
"created": "2022-10-07T17:09:22.639494+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acp5 has been classified as Green List (High Evidence).",
"entity_name": "ACP5",
"entity_type": "gene"
},
{
"created": "2022-10-07T17:09:13.691622+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACP5 as ready",
"entity_name": "ACP5",
"entity_type": "gene"
},
{
"created": "2022-10-07T17:09:13.683225+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acp5 has been classified as Green List (High Evidence).",
"entity_name": "ACP5",
"entity_type": "gene"
},
{
"created": "2022-10-07T17:09:05.746393+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACP5 as Green List (high evidence)",
"entity_name": "ACP5",
"entity_type": "gene"
},
{
"created": "2022-10-07T17:09:05.738099+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acp5 has been classified as Green List (High Evidence).",
"entity_name": "ACP5",
"entity_type": "gene"
},
{
"created": "2022-10-07T17:08:34.291236+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.502",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "changed review comment from: Well establishes gene-disease association\r\n\r\nOnset: Classic infantile form causes cardiomyopathy and severe hypotonia in infancy (<1 year); Late-onset form causes severe weakness and respiratory insufficiency with onset after 12 months; Adult form presents with progressive myopathy \r\n\r\nSeverity: Infantile form fatal in first year of life if untreated\r\n\r\nTreatment: Enzyme replacement therapy with alglucosidase alfa prior to 6 months of age prolongs survival, reduces cardiac size and allows acquisition of motor skills; to: Well establishes gene-disease association\r\n\r\nOnset: Classic infantile form causes cardiomyopathy and severe hypotonia in infancy (<1 year); Late-onset form causes severe weakness and respiratory insufficiency with onset after 12 months; Adult form presents with progressive myopathy \r\n\r\nSeverity: Infantile form fatal in first year of life if untreated\r\n\r\nTreatment: Enzyme replacement therapy with alglucosidase alfa prior to 6 months of age prolongs survival, reduces cardiac size and allows acquisition of motor skills\r\n\r\nNon-molecular confirmatory test: enzyme activity analysis",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2022-10-07T17:07:31.287995+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.502",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: G6PD as ready",
"entity_name": "G6PD",
"entity_type": "gene"
},
{
"created": "2022-10-07T17:07:31.278939+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.502",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: g6pd has been classified as Green List (High Evidence).",
"entity_name": "G6PD",
"entity_type": "gene"
},
{
"created": "2022-10-07T17:07:18.452995+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.502",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: GAA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease II, Pompe disease, MIM# 232300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2022-10-07T17:01:01.469149+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.137",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: ADAMTSL2 was added\ngene: ADAMTSL2 was added to Skeletal Dysplasia_Fetal. Sources: Literature\nMode of inheritance for gene: ADAMTSL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAMTSL2 were set to 20301776; 21415077\nPhenotypes for gene: ADAMTSL2 were set to Geleophysic dysplasia 1-MIM#231050\nReview for gene: ADAMTSL2 was set to GREEN\nAdded comment: Disproportionate growth restriction affecting length has been detected in the antenatal period\r\n\r\n--\r\nVariants in this gene cause a multi-system disorder involving the skeleton, skin, joints, and heart; perinatal presentation with skeletal and heart features reported. Multiple families reported. \nSources: Literature",
"entity_name": "ADAMTSL2",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:51:47.903905+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.502",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SCN11A as ready",
"entity_name": "SCN11A",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:51:47.893881+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.502",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: scn11a has been classified as Red List (Low Evidence).",
"entity_name": "SCN11A",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:51:39.696854+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.502",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SCN11A were changed from Episodic pain syndrome to Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548",
"entity_name": "SCN11A",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:51:27.954506+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.501",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SCN11A as Red List (low evidence)",
"entity_name": "SCN11A",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:51:27.942482+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.501",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: scn11a has been classified as Red List (Low Evidence).",
"entity_name": "SCN11A",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:51:10.967364+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.500",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SCN11A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN11A",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:45:58.199170+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.500",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SBDS as ready",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:45:58.191340+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.500",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: sbds has been classified as Green List (High Evidence).",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:45:34.330938+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.500",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SBDS were changed from Shwachman-Bodian-Diamond syndrome to Shwachman-Diamond syndrome, MIM# 260400",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:45:23.560030+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.499",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: SBDS were set to ",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:45:07.293933+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.498",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SBDS: Rating: GREEN; Mode of pathogenicity: None; Publications: 22191555, 20301722; Phenotypes: Shwachman-Diamond syndrome, MIM# 260400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:43:49.907528+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.137",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: ACAN was added\ngene: ACAN was added to Skeletal Dysplasia_Fetal. Sources: Literature\nMode of inheritance for gene: ACAN was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: ACAN were set to 24762113; 27870580; 19110214; 30124491; 28331218; 20137779\nPhenotypes for gene: ACAN were set to Spondyloepimetaphyseal dysplasia, aggrecan type, OMIM# 612813; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, OMIM# 165800\nReview for gene: ACAN was set to GREEN\nAdded comment: Spondyloepimetaphyseal dysplasia, aggrecan type is biallelic and associated with more severe skeletal phenotype likely to be detectable in fetal period.\r\n\r\nPatients with SSOAD (monoallelic) exhibit a broad phenotypic spectrum involving short stature associated with advanced bone maturation and early-onset osteoarthritis (OA), as well as mild dysmorphic features consisting of midface hypoplasia, brachydactyly, broad great toes, and lumbar lordosis. Other features include intervertebral disc disease and osteochondritis dissecans, which is characterized by separation of articular cartilage and subchondral bone from the articular surface. Patients born with low-normal birth length. Phenotypes are highly variable even among patients within the same family, and there are no apparent genotype-phenotype correlations. \nSources: Literature",
"entity_name": "ACAN",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:43:10.324171+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BLNK as ready",
"entity_name": "BLNK",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:43:10.316186+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: blnk has been classified as Green List (High Evidence).",
"entity_name": "BLNK",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:43:06.072017+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BLNK were set to ",
"entity_name": "BLNK",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:39:58.911451+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C5 as ready",
"entity_name": "C5",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:39:58.903286+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c5 has been classified as Green List (High Evidence).",
"entity_name": "C5",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:39:52.872647+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: C5.",
"entity_name": "C5",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:39:42.588881+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: C5 deficiency (MIM#609536); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C5",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:38:46.259234+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.497",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SAMHD1 as ready",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:38:46.251662+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.497",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: samhd1 has been classified as Green List (High Evidence).",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:38:43.050259+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.497",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SAMHD1 were changed from Aicardi-Goutieres syndrome to Aicardi-Goutieres syndrome 5, MIM# 612952",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:38:34.082494+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.496",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: SAMHD1 were set to ",
"entity_name": "SAMHD1",
"entity_type": "gene"
}
]
}