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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=668",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=666",
"results": [
{
"created": "2022-12-14T09:35:38.786815+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps6ka3 has been classified as Red List (Low Evidence).",
"entity_name": "RPS6KA3",
"entity_type": "gene"
},
{
"created": "2022-12-14T09:35:35.637553+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPS6KA3 were changed from Coffin-Lowry syndrome to Coffin-Lowry syndrome MIM# 303600",
"entity_name": "RPS6KA3",
"entity_type": "gene"
},
{
"created": "2022-12-14T09:35:21.462228+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPS6KA3 as Red List (low evidence)",
"entity_name": "RPS6KA3",
"entity_type": "gene"
},
{
"created": "2022-12-14T09:35:21.448534+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps6ka3 has been classified as Red List (Low Evidence).",
"entity_name": "RPS6KA3",
"entity_type": "gene"
},
{
"created": "2022-12-14T09:35:10.055056+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RPS6KA3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Coffin-Lowry syndrome MIM# 303600; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "RPS6KA3",
"entity_type": "gene"
},
{
"created": "2022-12-14T09:33:37.769644+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RRM2B as ready",
"entity_name": "RRM2B",
"entity_type": "gene"
},
{
"created": "2022-12-14T09:33:37.735856+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rrm2b has been classified as Red List (Low Evidence).",
"entity_name": "RRM2B",
"entity_type": "gene"
},
{
"created": "2022-12-14T09:33:30.510809+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RRM2B were changed from Mitochondrial DNA depletion syndrome to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075; Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, MIM# 268315",
"entity_name": "RRM2B",
"entity_type": "gene"
},
{
"created": "2022-12-14T09:33:16.089774+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RRM2B as Red List (low evidence)",
"entity_name": "RRM2B",
"entity_type": "gene"
},
{
"created": "2022-12-14T09:33:16.077111+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rrm2b has been classified as Red List (Low Evidence).",
"entity_name": "RRM2B",
"entity_type": "gene"
},
{
"created": "2022-12-14T09:32:53.714412+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RRM2B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075, Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075, Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, MIM# 268315; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RRM2B",
"entity_type": "gene"
},
{
"created": "2022-12-14T09:29:20.132793+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RS1 as ready",
"entity_name": "RS1",
"entity_type": "gene"
},
{
"created": "2022-12-14T09:29:20.120023+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rs1 has been classified as Red List (Low Evidence).",
"entity_name": "RS1",
"entity_type": "gene"
},
{
"created": "2022-12-14T09:29:11.514388+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RS1 were changed from Retinoschisis, X linked to Retinoschisis, MIM#312700",
"entity_name": "RS1",
"entity_type": "gene"
},
{
"created": "2022-12-14T09:28:59.489585+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RS1 as Red List (low evidence)",
"entity_name": "RS1",
"entity_type": "gene"
},
{
"created": "2022-12-14T09:28:59.471916+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rs1 has been classified as Red List (Low Evidence).",
"entity_name": "RS1",
"entity_type": "gene"
},
{
"created": "2022-12-14T09:28:47.811820+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinoschisis, MIM#312700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "RS1",
"entity_type": "gene"
},
{
"created": "2022-12-14T09:26:12.301676+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RSPH4A as ready",
"entity_name": "RSPH4A",
"entity_type": "gene"
},
{
"created": "2022-12-14T09:26:12.288495+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rsph4a has been classified as Red List (Low Evidence).",
"entity_name": "RSPH4A",
"entity_type": "gene"
},
{
"created": "2022-12-14T09:26:05.170446+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RSPH4A were changed from Ciliary dyskinesia, primary to Ciliary dyskinesia, primary, 11 (MIM#612649)",
"entity_name": "RSPH4A",
"entity_type": "gene"
},
{
"created": "2022-12-14T09:25:52.489554+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1376",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RSPH4A as Red List (low evidence)",
"entity_name": "RSPH4A",
"entity_type": "gene"
},
{
"created": "2022-12-14T09:25:52.477664+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1376",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rsph4a has been classified as Red List (Low Evidence).",
"entity_name": "RSPH4A",
"entity_type": "gene"
},
{
"created": "2022-12-14T09:25:40.454572+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RSPH4A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 11 (MIM#612649); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RSPH4A",
"entity_type": "gene"
},
{
"created": "2022-12-13T19:21:38.350774+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RSPH9 as ready",
"entity_name": "RSPH9",
"entity_type": "gene"
},
{
"created": "2022-12-13T19:21:38.338932+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rsph9 has been classified as Red List (Low Evidence).",
"entity_name": "RSPH9",
"entity_type": "gene"
},
{
"created": "2022-12-13T19:21:34.403667+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RSPH9 were changed from Ciliary dyskinesia, primary to Ciliary dyskinesia, primary, 12 (MIM#612650)",
"entity_name": "RSPH9",
"entity_type": "gene"
},
{
"created": "2022-12-13T19:21:22.621183+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RSPH9 as Red List (low evidence)",
"entity_name": "RSPH9",
"entity_type": "gene"
},
{
"created": "2022-12-13T19:21:22.595478+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rsph9 has been classified as Red List (Low Evidence).",
"entity_name": "RSPH9",
"entity_type": "gene"
},
{
"created": "2022-12-13T19:21:10.412044+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RSPH9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 12 (MIM#612650); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RSPH9",
"entity_type": "gene"
},
{
"created": "2022-12-13T19:19:36.525511+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RUNX2 as ready",
"entity_name": "RUNX2",
"entity_type": "gene"
},
{
"created": "2022-12-13T19:19:36.512047+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: runx2 has been classified as Red List (Low Evidence).",
"entity_name": "RUNX2",
"entity_type": "gene"
},
{
"created": "2022-12-13T19:19:27.886941+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RUNX2 were changed from Cleidocranial dysostosis to Cleidocranial dysplasia MIM#119600; Cleidocranial dysplasia, forme fruste, dental anomalies only MIM#119600; Cleidocranial dysplasia, forme fruste, with brachydactyly MIM#119600; Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly MIM#156510",
"entity_name": "RUNX2",
"entity_type": "gene"
},
{
"created": "2022-12-13T19:19:12.401767+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RUNX2 as Red List (low evidence)",
"entity_name": "RUNX2",
"entity_type": "gene"
},
{
"created": "2022-12-13T19:19:12.390538+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: runx2 has been classified as Red List (Low Evidence).",
"entity_name": "RUNX2",
"entity_type": "gene"
},
{
"created": "2022-12-13T19:19:01.138676+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RUNX2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cleidocranial dysplasia MIM#119600, Cleidocranial dysplasia, forme fruste, dental anomalies only MIM#119600, Cleidocranial dysplasia, forme fruste, with brachydactyly MIM#119600, Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly MIM#156510; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RUNX2",
"entity_type": "gene"
},
{
"created": "2022-12-13T19:03:26.014614+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CACNA1S as ready",
"entity_name": "CACNA1S",
"entity_type": "gene"
},
{
"created": "2022-12-13T19:03:25.965335+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1s has been classified as Green List (High Evidence).",
"entity_name": "CACNA1S",
"entity_type": "gene"
},
{
"created": "2022-12-13T19:03:17.355879+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA1S were changed from Malignant hyperthermia to Malignant hyperthermia susceptibility 5, MIM# 601887",
"entity_name": "CACNA1S",
"entity_type": "gene"
},
{
"created": "2022-12-13T19:03:02.539650+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CACNA1S as Green List (high evidence)",
"entity_name": "CACNA1S",
"entity_type": "gene"
},
{
"created": "2022-12-13T19:03:02.523133+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1s has been classified as Green List (High Evidence).",
"entity_name": "CACNA1S",
"entity_type": "gene"
},
{
"created": "2022-12-13T19:02:50.555227+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: CACNA1S.\nTag pharmacogenomic tag was added to gene: CACNA1S.",
"entity_name": "CACNA1S",
"entity_type": "gene"
},
{
"created": "2022-12-13T19:02:37.563797+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CACNA1S: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Malignant hyperthermia susceptibility 5, MIM# 601887; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CACNA1S",
"entity_type": "gene"
},
{
"created": "2022-12-13T18:59:39.361616+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RYR1 as ready",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2022-12-13T18:59:39.349477+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ryr1 has been classified as Green List (High Evidence).",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2022-12-13T18:59:36.086444+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RYR1 were changed from Malignant hyperthermia, multiminicore disease MIM#180901 to {Malignant hyperthermia susceptibility 1} MIM#145600",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2022-12-13T18:59:19.570731+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RYR1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2022-12-13T18:59:08.915762+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: RYR1.\nTag pharmacogenomic tag was added to gene: RYR1.",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2022-12-13T18:58:55.800666+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RYR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Malignant hyperthermia susceptibility 1} MIM#145600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2022-12-13T18:53:30.052661+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RYR2 as ready",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2022-12-13T18:53:30.026474+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ryr2 has been classified as Green List (High Evidence).",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2022-12-13T18:53:19.315763+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: RYR2.\nTag cardiac tag was added to gene: RYR2.\nTag treatable tag was added to gene: RYR2.",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2022-12-13T18:53:03.198452+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RYR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ventricular tachycardia, catecholaminergic polymorphic, 1, MIM# 604772; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2022-12-13T18:12:22.366323+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: INSR as ready",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2022-12-13T18:12:22.353670+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: insr has been classified as Red List (Low Evidence).",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2022-12-13T18:12:18.639378+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: INSR were changed from Leprechaunism to Hyperinsulinemic hypoglycemia, familial, 5, MIM# 609968; Leprechaunism, MIM# 246200; Rabson-Mendenhall syndrome, MIM# 262190",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2022-12-13T18:12:04.939804+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: INSR was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2022-12-13T18:08:28.739449+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: INSR as Red List (low evidence)",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2022-12-13T18:08:28.719551+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: insr has been classified as Red List (Low Evidence).",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2022-12-13T18:08:16.046945+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: INSR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperinsulinemic hypoglycemia, familial, 5, MIM# 609968, Leprechaunism, MIM# 246200, Rabson-Mendenhall syndrome, MIM# 262190; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2022-12-13T15:30:29.138438+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1364",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SLX4 as ready",
"entity_name": "SLX4",
"entity_type": "gene"
},
{
"created": "2022-12-13T15:30:29.126398+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1364",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slx4 has been classified as Green List (High Evidence).",
"entity_name": "SLX4",
"entity_type": "gene"
},
{
"created": "2022-12-13T15:30:00.382204+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1364",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SLX4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group P, MIM# 613951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLX4",
"entity_type": "gene"
},
{
"created": "2022-12-13T15:26:28.885371+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TOR1AIP1 as ready",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2022-12-13T15:26:28.868419+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tor1aip1 has been classified as Green List (High Evidence).",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2022-12-13T15:26:25.340337+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TOR1AIP1 as Green List (high evidence)",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2022-12-13T15:26:25.323531+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tor1aip1 has been classified as Green List (High Evidence).",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2022-12-13T15:26:16.739386+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TOR1AIP1 was added\ngene: TOR1AIP1 was added to Cardiomyopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: TOR1AIP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TOR1AIP1 were set to 24856141; 27342937; 32055997; 25425325\nPhenotypes for gene: TOR1AIP1 were set to Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072; Autosomal recessive limb-girdle muscular dystrophy type 2Y, MONDO:0014900\nReview for gene: TOR1AIP1 was set to GREEN\nAdded comment: At least 15 affected individuals from 10 families with biallelic variants in this gene. Of these, 7 individuals (5 families) reported in PMID:30723199 harbour the same founder variant presenting a very similar phenotype, and are therefore considered collectively here.\r\n\r\nMuscular dystrophy is the prominent feature of the disease presentation observed in at least one case individual each family, but specifically proximal limb-girdle dystrophy was recorded in 4 unrelated kindreds. Additional common features also include joint contractures (4 fam), dilated cardiomyopathy (4 fam), developmental delay (4 fam), and cataracts (3 fam).\r\n\r\nAge of onset for cardiomyopathy was variable ranging from childhood to adulthood. \nSources: Literature",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2022-12-13T15:25:55.395896+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1364",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SLCO2A1 as ready",
"entity_name": "SLCO2A1",
"entity_type": "gene"
},
{
"created": "2022-12-13T15:25:55.374998+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1364",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slco2a1 has been classified as Red List (Low Evidence).",
"entity_name": "SLCO2A1",
"entity_type": "gene"
},
{
"created": "2022-12-13T15:25:45.517904+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1364",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SLCO2A1 as Red List (low evidence)",
"entity_name": "SLCO2A1",
"entity_type": "gene"
},
{
"created": "2022-12-13T15:25:45.505917+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1364",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slco2a1 has been classified as Red List (Low Evidence).",
"entity_name": "SLCO2A1",
"entity_type": "gene"
},
{
"created": "2022-12-13T15:25:29.573075+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1363",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SLCO2A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100, Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLCO2A1",
"entity_type": "gene"
},
{
"created": "2022-12-13T15:23:58.811036+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPRED2 as ready",
"entity_name": "SPRED2",
"entity_type": "gene"
},
{
"created": "2022-12-13T15:23:58.798424+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spred2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPRED2",
"entity_type": "gene"
},
{
"created": "2022-12-13T15:23:54.791871+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPRED2 as Amber List (moderate evidence)",
"entity_name": "SPRED2",
"entity_type": "gene"
},
{
"created": "2022-12-13T15:23:54.779352+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spred2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPRED2",
"entity_type": "gene"
},
{
"created": "2022-12-13T15:23:46.469844+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPRED2 was added\ngene: SPRED2 was added to Cardiomyopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: SPRED2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPRED2 were set to 34626534\nPhenotypes for gene: SPRED2 were set to Noonan syndrome 14, MIM#\t619745\nReview for gene: SPRED2 was set to AMBER\nAdded comment: Four individuals from three families reported with bi-allelic variants and a Noonan-like phenotype. One individual has HCM, and another asymmetrical interventricular septal hypertrophy. \nSources: Literature",
"entity_name": "SPRED2",
"entity_type": "gene"
},
{
"created": "2022-12-13T15:19:51.917756+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1363",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SLC9A6 as ready",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2022-12-13T15:19:51.906096+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1363",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc9a6 has been classified as Red List (Low Evidence).",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2022-12-13T15:19:42.137587+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1363",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SLC9A6 were changed from Christianson syndrome to Mental retardation, X-linked syndromic, Christianson type, MIM# 300243",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2022-12-13T15:19:25.838909+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1362",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SLC9A6 as Red List (low evidence)",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2022-12-13T15:19:25.824845+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1362",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc9a6 has been classified as Red List (Low Evidence).",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2022-12-13T15:19:09.082777+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1361",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SLC9A6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, X-linked syndromic, Christianson type, MIM# 300243; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2022-12-13T15:17:36.491091+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GSN as ready",
"entity_name": "GSN",
"entity_type": "gene"
},
{
"created": "2022-12-13T15:17:36.479139+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gsn has been classified as Red List (Low Evidence).",
"entity_name": "GSN",
"entity_type": "gene"
},
{
"created": "2022-12-13T15:17:29.497417+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GSN was added\ngene: GSN was added to Cardiomyopathy_Paediatric. Sources: Expert list\nMode of inheritance for gene: GSN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GSN were set to 26339870\nPhenotypes for gene: GSN were set to Amyloidosis, Finnish type, MIM#\t105120\nReview for gene: GSN was set to RED\nAdded comment: PMID: 26339870 found that 12/227 patients had cardiomyopathy and previous case reports and publications show that cardiomyopathy is only present in some cases and the age of diagnosis (or when pacemakers were implants into patients) is typically >50 years. Cardiomyopathy does not appear to be a presenting feature in childhood. \nSources: Expert list",
"entity_name": "GSN",
"entity_type": "gene"
},
{
"created": "2022-12-13T14:29:51.870010+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1361",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SLC7A9 as ready",
"entity_name": "SLC7A9",
"entity_type": "gene"
},
{
"created": "2022-12-13T14:29:51.864708+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1361",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Established gene-disease association.\r\n\r\nChildhood onset, multi-system disorder\r\n\r\nTreatment: no specific treatment available\r\n\r\nNon-genetic confirmatory test: not assessed",
"entity_name": "SLC7A9",
"entity_type": "gene"
},
{
"created": "2022-12-13T14:29:51.836876+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1361",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc7a9 has been classified as Red List (Low Evidence).",
"entity_name": "SLC7A9",
"entity_type": "gene"
},
{
"created": "2022-12-13T14:29:03.496854+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1361",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SLC7A9 were changed from Cystinuria to Cystinuria, MIM# 220100",
"entity_name": "SLC7A9",
"entity_type": "gene"
},
{
"created": "2022-12-13T14:28:39.604861+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1360",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SLC7A9 as Red List (low evidence)",
"entity_name": "SLC7A9",
"entity_type": "gene"
},
{
"created": "2022-12-13T14:28:39.591678+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1360",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc7a9 has been classified as Red List (Low Evidence).",
"entity_name": "SLC7A9",
"entity_type": "gene"
},
{
"created": "2022-12-13T14:27:00.861353+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1359",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SLC7A9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cystinuria, MIM# 220100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC7A9",
"entity_type": "gene"
},
{
"created": "2022-12-13T13:54:46.659098+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1359",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SLC7A7",
"entity_type": "gene"
},
{
"created": "2022-12-13T13:54:41.878341+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1359",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "edited their review of gene: SLC7A7: Added comment: Established gene-disease association.\r\n\r\nChildhood onset, multi-system disorder\r\n\r\nTreatment: protein restriction, carnitine, citrulline, lysine supplementation, sodium benzoate\r\n\r\nNon-genetic confirmatory test: 24-hour urinary excretion of cationic amino acids; Changed publications: 20301535",
"entity_name": "SLC7A7",
"entity_type": "gene"
},
{
"created": "2022-12-13T13:54:18.462850+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1359",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SLC7A7 as ready",
"entity_name": "SLC7A7",
"entity_type": "gene"
},
{
"created": "2022-12-13T13:54:18.451164+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1359",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc7a7 has been classified as Green List (High Evidence).",
"entity_name": "SLC7A7",
"entity_type": "gene"
},
{
"created": "2022-12-13T13:54:14.207657+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1359",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: SLC7A7 were set to ",
"entity_name": "SLC7A7",
"entity_type": "gene"
},
{
"created": "2022-12-13T13:53:40.895420+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1358",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SLC7A7 were changed from Lysinuric protein intolerance to Lysinuric protein intolerance, MIM# 222700",
"entity_name": "SLC7A7",
"entity_type": "gene"
},
{
"created": "2022-12-13T13:53:23.334514+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1357",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SLC7A7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lysinuric protein intolerance, MIM# 222700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC7A7",
"entity_type": "gene"
}
]
}