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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=327",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=325",
"results": [
{
"created": "2024-12-11T16:44:08.584910+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "changed review comment from: Well established gene disease association causing skeletal abnormalities of varying severity.\r\nVariants in this gene have been shown to cause achondrogenesis type 1B, atelosteogenesis type 2, diastrophic dysplasia, and recessive multiple epiphyseal dysplasia, which comprise a spectrum of phenotypes (depending on level of residual sulfate transport). Onset can be neonatal. \r\nMouse models present for some phenotypes, and functional studies are present.\r\n\r\nHomozygosity or compound heterozygosity for stop codons or transmembrane domain substitutions mostly result in achondrogenesis type IB, whereas other structural or regulatory mutations usually result in one of the less severe phenotypes (PMID: 8723100)\r\n\r\nUnsure of phenotypes to list under condition. Clingen includes curations for:\r\ndiastrophic dysplasia MONDO:0009107\r\nmultiple epiphyseal dysplasia MONDO:0016648\r\natelosteogenesis type II MONDO:0009727\r\nachondrogenesis type IB MONDO:0010966\r\nOMIM phenotypes (6) listed above.; to: Well established gene disease association causing skeletal abnormalities of varying severity.\r\nVariants in this gene have been shown to cause achondrogenesis type 1B, atelosteogenesis type 2, diastrophic dysplasia, and recessive multiple epiphyseal dysplasia, which comprise a spectrum of phenotypes (depending on level of residual sulfate transport). Onset/features can often be observed neonatally.\r\nMouse models present for some phenotypes, and functional studies are present.\r\n\r\nHomozygosity or compound heterozygosity for stop codons or transmembrane domain substitutions mostly result in achondrogenesis type IB, whereas other structural or regulatory mutations usually result in one of the less severe phenotypes (PMID: 8723100)\r\n\r\nUnsure of phenotypes to list under condition. Clingen includes curations for:\r\ndiastrophic dysplasia MONDO:0009107\r\nmultiple epiphyseal dysplasia MONDO:0016648\r\natelosteogenesis type II MONDO:0009727\r\nachondrogenesis type IB MONDO:0010966\r\nOMIM phenotypes (6) listed above.",
"entity_name": "SLC26A2",
"entity_type": "gene"
},
{
"created": "2024-12-11T16:43:28.249555+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: SLC26A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301483, 20301689, 11241838, 8723100; Phenotypes: Achondrogenesis Ib MIM#600972, Atelosteogenesis, type II MIM#256050, De la Chapelle dysplasia MIM#256050, Diastrophic dysplasia MIM#222600, Diastrophic dysplasia, broad bone-platyspondylic variant MIM#222600, Epiphyseal dysplasia, multiple, 4 MIM#226900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC26A2",
"entity_type": "gene"
},
{
"created": "2024-12-11T16:06:04.472580+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: SLC25A22: Rating: GREEN; Mode of pathogenicity: None; Publications: 15592994, 19780765, 24596948, 33821742, 33342683, 31285529; Phenotypes: Developmental and epileptic encephalopathy 3 MIM#609304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A22",
"entity_type": "gene"
},
{
"created": "2024-12-11T16:04:15.240458+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: SLC25A15: Rating: GREEN; Mode of pathogenicity: None; Publications: 10369256, 19242930; Phenotypes: Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome MIM#238970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A15",
"entity_type": "gene"
},
{
"created": "2024-12-11T13:56:52.615791+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.77",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Biallelic is Green and Monoallelic is Amber",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2024-12-11T13:56:52.581346+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.77",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: PKHD1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2024-12-11T13:55:10.638174+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.76",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: PKHD1: Changed publications: 39190485, 21945273",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2024-12-11T13:54:40.695204+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.76",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: Emerging evidence of a monoallelic association with polycystic kidney with/without liver cysts. Enrichment of monoallelic PKHD1 LoF variants (P = 2.98e-08, OR 4.07, 95%CI 2.24-6.88) in 100K GP cystic kidney disease cohort. 50 cases, of which 22 were solved (3 ARPKD & 19 PKD1/2), 2 were partially solved (likely ARPKD), 24 were unsolved (4 with predicted deleterious missense in PKD1/2), and 2 were unascertainable.\r\n18/1209 - with only monoallelic PKHD1 as plausible cause. Enrichment in unexplained (n=266) CyKD cases (P = 5.85e-6, OR 2.92, 95% CI 1.69-4.76).\r\n100K GP WGS case-control analysis: cystic kidney disease cohort n=1209 vs ancestry-matched controls n=29,096. Gene-based collapsing rare variant association with SAIGE-GENE (P<2.6e-6).; to: Emerging evidence of a monoallelic association with polycystic kidney with/without liver cysts. \r\nPMID: 39190485 - Enrichment of monoallelic PKHD1 LoF variants (P = 2.98e-08, OR 4.07, 95%CI 2.24-6.88) in 100K GP cystic kidney disease cohort. 50 cases, of which 22 were solved (3 ARPKD & 19 PKD1/2), 2 were partially solved (likely ARPKD), 24 were unsolved (4 with predicted deleterious missense in PKD1/2), and 2 were unascertainable.\r\n18/1209 - with only monoallelic PKHD1 as plausible cause. Enrichment in unexplained (n=266) CyKD cases (P = 5.85e-6, OR 2.92, 95% CI 1.69-4.76).\r\n100K GP WGS case-control analysis: cystic kidney disease cohort n=1209 vs ancestry-matched controls n=29,096. Gene-based collapsing rare variant association with SAIGE-GENE (P<2.6e-6).\r\nPMID: 21945273 - study suggests carrier status for ARPKD is a predisposition to polycystic liver disease and renal involvement. Ultrasound evaluations on 110 parents from 64 independent ARPKD families (85 molecularly confirmed) identified increased medullary echogenicity in 6 (5.5%) and multiple small liver cysts in 10 parents (9%). Ages of the group ranged from 27 to 66 years (39.5 ± 6.8).",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2024-12-11T13:22:16.468499+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.76",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: PKHD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 39190485; Phenotypes: Polycystic kidney disease MONDO:0020642; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2024-12-11T13:13:30.114328+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.76",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: COL4A5 as ready",
"entity_name": "COL4A5",
"entity_type": "gene"
},
{
"created": "2024-12-11T13:13:30.088758+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.76",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: col4a5 has been classified as Green List (High Evidence).",
"entity_name": "COL4A5",
"entity_type": "gene"
},
{
"created": "2024-12-11T13:12:56.078447+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.76",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: COL4A5 as Green List (high evidence)",
"entity_name": "COL4A5",
"entity_type": "gene"
},
{
"created": "2024-12-11T13:12:56.059897+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.76",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: col4a5 has been classified as Green List (High Evidence).",
"entity_name": "COL4A5",
"entity_type": "gene"
},
{
"created": "2024-12-11T13:04:34.353107+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.75",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: COL4A5 was added\ngene: COL4A5 was added to Renal Macrocystic Disease. Sources: Literature\nMode of inheritance for gene: COL4A5 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: COL4A5 were set to 38790225; 38680391; 38514012\nPhenotypes for gene: COL4A5 were set to Alport syndrome MONDO:0018965\nReview for gene: COL4A5 was set to GREEN\ngene: COL4A5 was marked as current diagnostic\nAdded comment: Multiple kidney cysts, usually with normal kidney volume, were found in 37% (26/70) of patients with a genetically confirmed AS (COL4A3-5), mostly ADAS. A few patients' kidney volumes were similar to autosomal dominant polycystic kidney disease. The prevalence of cystic kidney phenotype was significantly higher in patients with AS compared to those with IgA nephropathy (42% vs 19%; P=0.002). The cystic phenotype in the AS patients was associated with an older age and lower eGFR levels. Also, other studies reporting COL4A5 variants in individuals with a cystic kidney disease phenotype. \nSources: Literature",
"entity_name": "COL4A5",
"entity_type": "gene"
},
{
"created": "2024-12-11T13:02:18.068570+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: CKAP2L: Rating: GREEN; Mode of pathogenicity: None; Publications: 25439729, 33913579, 29473684; Phenotypes: Filippi syndrome MIM#272440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CKAP2L",
"entity_type": "gene"
},
{
"created": "2024-12-11T12:51:51.152936+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.74",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: COL4A4 as ready",
"entity_name": "COL4A4",
"entity_type": "gene"
},
{
"created": "2024-12-11T12:51:51.129815+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.74",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: col4a4 has been classified as Green List (High Evidence).",
"entity_name": "COL4A4",
"entity_type": "gene"
},
{
"created": "2024-12-11T12:25:39.916593+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.74",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: COL4A4 as Green List (high evidence)",
"entity_name": "COL4A4",
"entity_type": "gene"
},
{
"created": "2024-12-11T12:25:39.902350+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.74",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: col4a4 has been classified as Green List (High Evidence).",
"entity_name": "COL4A4",
"entity_type": "gene"
},
{
"created": "2024-12-11T12:24:31.534922+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.73",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: COL4A4 was added\ngene: COL4A4 was added to Renal Macrocystic Disease. Sources: Literature\nMode of inheritance for gene: COL4A4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: COL4A4 were set to 38514012\nPhenotypes for gene: COL4A4 were set to Alport syndrome MONDO:0018965\nReview for gene: COL4A4 was set to GREEN\ngene: COL4A4 was marked as current diagnostic\nAdded comment: Multiple kidney cysts, usually with normal kidney volume, were found in 37% (26/70) of patients with a genetically confirmed AS (COL4A3-5), mostly ADAS. A few patients' kidney volumes were similar to autosomal dominant polycystic kidney disease. The prevalence of cystic kidney phenotype was significantly higher in patients with AS compared to those with IgA nephropathy (42% vs 19%; P=0.002). The cystic phenotype in the AS patients was associated with an older age and lower eGFR levels. \nSources: Literature",
"entity_name": "COL4A4",
"entity_type": "gene"
},
{
"created": "2024-12-11T12:23:20.976537+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.72",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: PMID: 38514012 - Multiple kidney cysts, usually with normal kidney volume, were found in 37% (26/70) of patients with a genetically confirmed AS (COL4A3-5). A few patients' kidney volumes were similar to autosomal dominant polycystic kidney disease. The prevalence of cystic kidney phenotype was significantly higher in patients with AS compared to those with IgA nephropathy (42% vs 19%; P=0.002).\r\n\r\nPMID: 39190485 - Enrichment of monoallelic COL4A3 rare variants (P = 1.26e-6, OR 3.02, 95% CI 2.10-4.22) in 100K GP cystic kidney disease cohort. Enrichment in “unsolved” (eg removing PKD1 & PKD2 diagnoses), n=308 (P = 6.83e-7, OR 4.93, 95% CI 2.77-8.11). \r\n15/1209 - 9 are Gly-altering in the collagen triple helix domain, 1 stopgain, & 5 missense/inframe indel. 4 of the COL4A3 cases had liver cysts\r\n100K GP WGS case-control analysis: cystic kidney disease cohort n=1209 vs ancestry-matched controls n=29,096. Gene-based collapsing rare variant association with SAIGE-GENE (P<2.6e-6). \nSources: Literature; to: PMID: 38514012 - Multiple kidney cysts, usually with normal kidney volume, were found in 37% (26/70) of patients with a genetically confirmed AS (COL4A3-5), mostly ADAS. A few patients' kidney volumes were similar to autosomal dominant polycystic kidney disease. The prevalence of cystic kidney phenotype was significantly higher in patients with AS compared to those with IgA nephropathy (42% vs 19%; P=0.002). The cystic phenotype in the AS patients was associated with an older age and lower eGFR levels.\r\n\r\nPMID: 39190485 - Enrichment of monoallelic COL4A3 rare variants (P = 1.26e-6, OR 3.02, 95% CI 2.10-4.22) in 100K GP cystic kidney disease cohort. Enrichment in “unsolved” (eg removing PKD1 & PKD2 diagnoses), n=308 (P = 6.83e-7, OR 4.93, 95% CI 2.77-8.11). \r\n15/1209 - 9 are Gly-altering in the collagen triple helix domain, 1 stopgain, & 5 missense/inframe indel. 4 of the COL4A3 cases had liver cysts\r\n100K GP WGS case-control analysis: cystic kidney disease cohort n=1209 vs ancestry-matched controls n=29,096. Gene-based collapsing rare variant association with SAIGE-GENE (P<2.6e-6). \r\nSources: Literature",
"entity_name": "COL4A3",
"entity_type": "gene"
},
{
"created": "2024-12-11T12:17:40.556917+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.72",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: COL4A3 as ready",
"entity_name": "COL4A3",
"entity_type": "gene"
},
{
"created": "2024-12-11T12:17:40.543915+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.72",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: col4a3 has been classified as Green List (High Evidence).",
"entity_name": "COL4A3",
"entity_type": "gene"
},
{
"created": "2024-12-11T12:17:35.113526+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.72",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: COL4A3 as Green List (high evidence)",
"entity_name": "COL4A3",
"entity_type": "gene"
},
{
"created": "2024-12-11T12:17:35.099246+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.72",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: col4a3 has been classified as Green List (High Evidence).",
"entity_name": "COL4A3",
"entity_type": "gene"
},
{
"created": "2024-12-11T12:16:59.749812+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.71",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: COL4A3 was added\ngene: COL4A3 was added to Renal Macrocystic Disease. Sources: Literature\nMode of inheritance for gene: COL4A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: COL4A3 were set to 39190485; 38514012\nPhenotypes for gene: COL4A3 were set to Alport syndrome MONDO:0018965\nReview for gene: COL4A3 was set to GREEN\ngene: COL4A3 was marked as current diagnostic\nAdded comment: PMID: 38514012 - Multiple kidney cysts, usually with normal kidney volume, were found in 37% (26/70) of patients with a genetically confirmed AS (COL4A3-5). A few patients' kidney volumes were similar to autosomal dominant polycystic kidney disease. The prevalence of cystic kidney phenotype was significantly higher in patients with AS compared to those with IgA nephropathy (42% vs 19%; P=0.002).\r\n\r\nPMID: 39190485 - Enrichment of monoallelic COL4A3 rare variants (P = 1.26e-6, OR 3.02, 95% CI 2.10-4.22) in 100K GP cystic kidney disease cohort. Enrichment in “unsolved” (eg removing PKD1 & PKD2 diagnoses), n=308 (P = 6.83e-7, OR 4.93, 95% CI 2.77-8.11). \r\n15/1209 - 9 are Gly-altering in the collagen triple helix domain, 1 stopgain, & 5 missense/inframe indel. 4 of the COL4A3 cases had liver cysts\r\n100K GP WGS case-control analysis: cystic kidney disease cohort n=1209 vs ancestry-matched controls n=29,096. Gene-based collapsing rare variant association with SAIGE-GENE (P<2.6e-6). \nSources: Literature",
"entity_name": "COL4A3",
"entity_type": "gene"
},
{
"created": "2024-12-11T12:11:36.599802+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: CHKB: Rating: GREEN; Mode of pathogenicity: None; Publications: 21665002, 23692895, 24997086; Phenotypes: Muscular dystrophy, congenital, megaconial type, MIM#602541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHKB",
"entity_type": "gene"
},
{
"created": "2024-12-11T11:44:11.465770+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: CDK5RAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15793586, 22887808, 23995685, 23726037, 27761245, 20460369, 32677750, 32015000; Phenotypes: Microcephaly 3, primary, autosomal recessive, MIM# 604804, MONDO:0011488; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2024-12-10T17:05:38.378054+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: CCNO: Rating: GREEN; Mode of pathogenicity: None; Publications: 24747639, 31765523, 28801648; Phenotypes: Ciliary dyskinesia, primary, 29, MIM#615872, Primary Ciliary Dyskinesia 29, MONDO:0014378; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCNO",
"entity_type": "gene"
},
{
"created": "2024-12-10T16:28:13.321765+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: CC2D2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18387594, 18950740, 18513680, 18950740, 19574260, 21725307, 33486889, 22241855, 27081510, 30267408; Phenotypes: COACH syndrome, MIM#216360, Joubert syndrome 9, MIM#612285, Meckel syndrome 6, MIM#612284, Retinitis pigmentosa 93, MIM# 619845; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:33:48.223157+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.633",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: C3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15781264, 1944729, 11813855, 26847111; Phenotypes: C3 deficiency MIM#613779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:28:34.118710+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DLAT as ready",
"entity_name": "DLAT",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:28:34.096434+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dlat has been classified as Green List (High Evidence).",
"entity_name": "DLAT",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:27:01.044795+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DLAT were set to ",
"entity_name": "DLAT",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:26:00.556494+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.271",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: Disease characterised by calcifications predominantly affecting the basal ganglia of the brain however can affect other areas of the brain as well. Affected individuals report abnormal motor symptoms and psychiatric manifestations. \r\n \r\nPMID: 36690225 - 24yr with brain calcification and neuropsychiatric symptoms. The affected individual also presented with chorea and dystonia. \r\nA novel homozygous Ser305del variant was identified.\r\n\r\nPMID: 34736156 - three unrelated individuals reported across different articles with brain calcification shown on brain imaging along with paroxysmal dystonia.; to: Disease characterised by calcifications predominantly affecting the basal ganglia of the brain however can affect other areas of the brain as well. Affected individuals report abnormal motor symptoms and psychiatric manifestations. \r\n \r\nPMID: 36690225 - 24yr with brain calcification and neuropsychiatric symptoms. The affected individual also presented with chorea and dystonia. \r\nA novel homozygous Ser305del variant was identified.\r\n\r\nPMID: 34736156 - three unrelated individuals reported across different publications with brain calcification shown on brain imaging along with paroxysmal dystonia.",
"entity_name": "PDGFB",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:25:45.825388+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FA2H as ready",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:25:45.796553+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fa2h has been classified as Green List (High Evidence).",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:25:30.311699+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FA2H were set to ",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:25:22.163231+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.270",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: PDGFB: Rating: GREEN; Mode of pathogenicity: None; Publications: 36690225, 34736156; Phenotypes: Primary familial brain calcifications, basal ganglia calcification, idiopathic, 5 MONDO:0014204; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDGFB",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:24:00.327026+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FTL as ready",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:24:00.307572+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ftl has been classified as Green List (High Evidence).",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:23:46.996377+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FTL were changed from Neurodegeneration with brain iron accumulation 3 606159 to Neurodegeneration with brain iron accumulation 3, MIM# 606159",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:23:21.680636+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FTL were set to ",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:22:46.291031+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GCDH as ready",
"entity_name": "GCDH",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:22:46.275296+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gcdh has been classified as Green List (High Evidence).",
"entity_name": "GCDH",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:22:43.439630+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GCDH were changed from Glutaric aciduria, type 1; Dystonia to glutaryl-CoA dehydrogenase deficiency MONDO:0009281",
"entity_name": "GCDH",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:22:21.241883+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GCDH were set to ",
"entity_name": "GCDH",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:21:30.737672+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLB1 as ready",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:21:30.722818+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glb1 has been classified as Green List (High Evidence).",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:21:25.258228+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLB1 were changed from Infantile GM1 gangliosidosis to GM1 gangliosidosis type 3 MONDO:0009262",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:21:04.459488+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GLB1 were set to ",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:20:02.952336+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HTRA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-methylglutaconic aciduria type 8 MONDO:0044723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HTRA2",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:19:45.692210+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HTRA2 as ready",
"entity_name": "HTRA2",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:19:45.678068+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: htra2 has been classified as Green List (High Evidence).",
"entity_name": "HTRA2",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:19:38.214108+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HTRA2 were changed from 3-methylglutaconic aciduria, type VIII 617248 to 3-methylglutaconic aciduria type 8 MONDO:0044723",
"entity_name": "HTRA2",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:19:13.438802+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HTRA2 were set to ",
"entity_name": "HTRA2",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:18:01.691782+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RUNX1T1 as ready",
"entity_name": "RUNX1T1",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:18:01.638668+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: runx1t1 has been classified as Green List (High Evidence).",
"entity_name": "RUNX1T1",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:17:19.370064+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RUNX1T1 were set to PMID: 39568205, 19172993, 22644616, 31223340",
"entity_name": "RUNX1T1",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:16:32.060413+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RUNX1T1 were changed from Neurodevelopmental disorder MONDO:0700092 to Neurodevelopmental disorder MONDO:0700092, RUNX1T1-related",
"entity_name": "RUNX1T1",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:15:33.277951+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RUNX1T1 as ready",
"entity_name": "RUNX1T1",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:15:33.266939+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: runx1t1 has been classified as Green List (High Evidence).",
"entity_name": "RUNX1T1",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:15:24.650624+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RUNX1T1 were changed from Neurodevelopmental disorder MONDO:0700092 to Neurodevelopmental disorder MONDO:0700092, RUNX1T1-related",
"entity_name": "RUNX1T1",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:13:19.145406+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RUNX1T1 were set to PMID: 39568205, 19172993, 22644616, 31223340",
"entity_name": "RUNX1T1",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:09:35.925559+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.963",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDE12 as ready",
"entity_name": "PDE12",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:09:35.895536+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.963",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde12 has been classified as Green List (High Evidence).",
"entity_name": "PDE12",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:09:31.951299+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.963",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDE12 were changed from Mitochondrial disease MONDO:0044970, PDE12-related to Mitochondrial disease MONDO:0044970, PDE12-related",
"entity_name": "PDE12",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:07:36.554805+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.962",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDE12 were changed from Mitochondrial disease MONDO:0044970 to Mitochondrial disease MONDO:0044970, PDE12-related",
"entity_name": "PDE12",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:06:49.932297+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.961",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDE12 as Green List (high evidence)",
"entity_name": "PDE12",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:06:49.919303+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.961",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde12 has been classified as Green List (High Evidence).",
"entity_name": "PDE12",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:05:31.256102+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDE12 as ready",
"entity_name": "PDE12",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:05:31.243835+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde12 has been classified as Green List (High Evidence).",
"entity_name": "PDE12",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:04:57.191813+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDE12 were changed from Mitochondrial disease MONDO:0044970 to Mitochondrial disease MONDO:0044970, PDE12-related",
"entity_name": "PDE12",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:03:49.325751+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NKX6-2 as ready",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:03:49.311146+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nkx6-2 has been classified as Green List (High Evidence).",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:03:43.139119+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NKX6-2 were changed from Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560 to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy MIM#617560",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:03:07.856567+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NKX6-2 were set to ",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:02:10.513422+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NPC1 as ready",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:02:10.498298+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: npc1 has been classified as Green List (High Evidence).",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:02:05.636874+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NPC1 were changed from Niemann-Pick disease type C1 to Niemann-Pick disease, type C1 MONDO:0009757",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:01:40.770106+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NPC1 were set to ",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:00:55.283462+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NPC2 as ready",
"entity_name": "NPC2",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:00:55.266335+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: npc2 has been classified as Green List (High Evidence).",
"entity_name": "NPC2",
"entity_type": "gene"
},
{
"created": "2024-12-10T15:00:52.343594+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NPC2 were changed from Niemann-Pick disease type C2; Dystonia to Niemann-Pick disease, type C2 MONDO:0011873; Dystonia",
"entity_name": "NPC2",
"entity_type": "gene"
},
{
"created": "2024-12-10T14:58:54.607226+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NPC2 were set to ",
"entity_name": "NPC2",
"entity_type": "gene"
},
{
"created": "2024-12-10T14:58:18.152581+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PANK2 as ready",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2024-12-10T14:58:18.131935+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pank2 has been classified as Green List (High Evidence).",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2024-12-10T14:58:15.049635+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PANK2 were changed from pantothenate kinase-associated neurodegeneration; Dystonia to pantothenate kinase-associated neurodegeneration MONDO:0009319; Dystonia",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2024-12-10T14:57:56.598215+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PANK2 were set to ",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2024-12-10T13:53:13.474557+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.254",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: Established gene-disease association with affected individuals presenting with generalised or lower limb dystonia.; to: Established gene-disease association with affected individuals presenting with generalised or lower limb dystonia along with other psychiatric/behavioural problems.",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2024-12-10T13:52:03.973787+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.254",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: PANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15911822; Phenotypes: pantothenate kinase-associated neurodegeneration MONDO:0009319; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2024-12-10T12:47:26.812240+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.254",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34993563, 17470133; Phenotypes: Niemann-Pick disease, type C2 MONDO:0011873; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPC2",
"entity_type": "gene"
},
{
"created": "2024-12-10T11:33:19.807100+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.254",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12555942, 20301473; Phenotypes: Niemann-Pick disease, type C1 MONDO:0009757; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2024-12-10T11:08:58.021607+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.254",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: NKX6-2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30285346, 28575651, 28969374; Phenotypes: spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy MONDO:0033043; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2024-12-10T10:51:24.586727+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2201",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PDE12 as Green List (high evidence)",
"entity_name": "PDE12",
"entity_type": "gene"
},
{
"created": "2024-12-10T10:51:24.573464+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2201",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: pde12 has been classified as Green List (High Evidence).",
"entity_name": "PDE12",
"entity_type": "gene"
},
{
"created": "2024-12-10T10:50:19.113197+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.113",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: CHUK as Green List (high evidence)",
"entity_name": "CHUK",
"entity_type": "gene"
},
{
"created": "2024-12-10T10:50:19.095161+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.113",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: chuk has been classified as Green List (High Evidence).",
"entity_name": "CHUK",
"entity_type": "gene"
},
{
"created": "2024-12-10T10:49:48.146997+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2200",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: CHUK as Green List (high evidence)",
"entity_name": "CHUK",
"entity_type": "gene"
},
{
"created": "2024-12-10T10:49:48.110714+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2200",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: chuk has been classified as Green List (High Evidence).",
"entity_name": "CHUK",
"entity_type": "gene"
}
]
}