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{
"count": 220324,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1334",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1332",
"results": [
{
"created": "2021-04-30T11:01:07.683318+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLX4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLX4",
"entity_type": "gene"
},
{
"created": "2021-04-30T11:00:45.737286+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 21240275, 21240277; Phenotypes: Fanconi anaemia, complementation group P, MIM# 613951, MONDO:0013499; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLX4",
"entity_type": "gene"
},
{
"created": "2021-04-30T10:17:28.276826+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACADSB as ready",
"entity_name": "ACADSB",
"entity_type": "gene"
},
{
"created": "2021-04-30T10:17:28.265807+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acadsb has been classified as Green List (High Evidence).",
"entity_name": "ACADSB",
"entity_type": "gene"
},
{
"created": "2021-04-30T08:35:33.977055+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NLRP2 were set to 30877238",
"entity_name": "NLRP2",
"entity_type": "gene"
},
{
"created": "2021-04-30T00:38:31.866628+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7432",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: NLRP2: Rating: ; Mode of pathogenicity: None; Publications: 19300480, 29574422, 33090377; Phenotypes: ; Mode of inheritance: None",
"entity_name": "NLRP2",
"entity_type": "gene"
},
{
"created": "2021-04-29T20:00:34.976841+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COQ8A as ready",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2021-04-29T20:00:34.966110+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coq8a has been classified as Green List (High Evidence).",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2021-04-29T20:00:27.682767+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COQ8A as Green List (high evidence)",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2021-04-29T20:00:27.672118+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coq8a has been classified as Green List (High Evidence).",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2021-04-29T20:00:15.368520+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COQ8A was added\ngene: COQ8A was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COQ8A were set to 32337771\nPhenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, primary, 4, MIM#\t612016\nReview for gene: COQ8A was set to GREEN\nAdded comment: PMID 32337771: cohort of 59 individuals. COQ8A-ataxia presented as variable multisystemic, early-onset cerebellar ataxia, with complicating features ranging from epilepsy (32%) and cognitive impairment (49%) to exercise intolerance (25%) and hyperkinetic movement disorders (41%), including dystonia and myoclonus as presenting symptoms. \nSources: Expert list",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2021-04-29T18:28:18.821873+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SGCE as ready",
"entity_name": "SGCE",
"entity_type": "gene"
},
{
"created": "2021-04-29T18:28:18.810551+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sgce has been classified as Red List (Low Evidence).",
"entity_name": "SGCE",
"entity_type": "gene"
},
{
"created": "2021-04-29T18:28:15.615098+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SGCE were changed from to Dystonia-11, myoclonic, MIM# 159900; MONDO:0008044",
"entity_name": "SGCE",
"entity_type": "gene"
},
{
"created": "2021-04-29T18:27:42.674096+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SGCE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)",
"entity_name": "SGCE",
"entity_type": "gene"
},
{
"created": "2021-04-29T18:27:13.729701+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SGCE as Red List (low evidence)",
"entity_name": "SGCE",
"entity_type": "gene"
},
{
"created": "2021-04-29T18:27:13.719651+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sgce has been classified as Red List (Low Evidence).",
"entity_name": "SGCE",
"entity_type": "gene"
},
{
"created": "2021-04-29T18:26:49.190349+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SGCE: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia-11, myoclonic, MIM# 159900, MONDO:0008044; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)",
"entity_name": "SGCE",
"entity_type": "gene"
},
{
"created": "2021-04-29T18:26:07.341684+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SGCE as ready",
"entity_name": "SGCE",
"entity_type": "gene"
},
{
"created": "2021-04-29T18:26:07.329326+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sgce has been classified as Green List (High Evidence).",
"entity_name": "SGCE",
"entity_type": "gene"
},
{
"created": "2021-04-29T18:25:59.714824+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SGCE were changed from to Dystonia-11, myoclonic, MIM# 159900; MONDO:0008044",
"entity_name": "SGCE",
"entity_type": "gene"
},
{
"created": "2021-04-29T18:25:42.106558+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SGCE were set to ",
"entity_name": "SGCE",
"entity_type": "gene"
},
{
"created": "2021-04-29T18:25:24.021646+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SGCE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)",
"entity_name": "SGCE",
"entity_type": "gene"
},
{
"created": "2021-04-29T18:25:04.992035+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SGCE: Rating: GREEN; Mode of pathogenicity: None; Publications: 11528394, 12821748, 16227522; Phenotypes: Dystonia-11, myoclonic, MIM# 159900, MONDO:0008044; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)",
"entity_name": "SGCE",
"entity_type": "gene"
},
{
"created": "2021-04-29T18:14:32.449933+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRKRA as ready",
"entity_name": "PRKRA",
"entity_type": "gene"
},
{
"created": "2021-04-29T18:14:32.440232+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prkra has been classified as Red List (Low Evidence).",
"entity_name": "PRKRA",
"entity_type": "gene"
},
{
"created": "2021-04-29T18:14:29.212814+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRKRA were changed from to Dystonia 16, MIM# 612067; MONDO:0012789",
"entity_name": "PRKRA",
"entity_type": "gene"
},
{
"created": "2021-04-29T18:14:04.598723+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.315",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRKRA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRKRA",
"entity_type": "gene"
},
{
"created": "2021-04-29T18:13:41.460921+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRKRA as Red List (low evidence)",
"entity_name": "PRKRA",
"entity_type": "gene"
},
{
"created": "2021-04-29T18:13:41.451692+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prkra has been classified as Red List (Low Evidence).",
"entity_name": "PRKRA",
"entity_type": "gene"
},
{
"created": "2021-04-29T18:13:11.785858+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRKRA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia 16, MIM# 612067, MONDO:0012789; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRKRA",
"entity_type": "gene"
},
{
"created": "2021-04-29T18:12:31.424455+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRKRA as ready",
"entity_name": "PRKRA",
"entity_type": "gene"
},
{
"created": "2021-04-29T18:12:31.414150+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prkra has been classified as Green List (High Evidence).",
"entity_name": "PRKRA",
"entity_type": "gene"
},
{
"created": "2021-04-29T18:12:13.320328+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRKRA were changed from to Dystonia 16, MIM# 612067; MONDO:0012789",
"entity_name": "PRKRA",
"entity_type": "gene"
},
{
"created": "2021-04-29T18:11:51.858060+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRKRA were set to ",
"entity_name": "PRKRA",
"entity_type": "gene"
},
{
"created": "2021-04-29T18:11:33.620185+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRKRA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRKRA",
"entity_type": "gene"
},
{
"created": "2021-04-29T18:11:13.367424+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRKRA: Rating: GREEN; Mode of pathogenicity: None; Publications: 18243799, 25142429, 29279192; Phenotypes: Dystonia 16, MIM# 612067, MONDO:0012789; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRKRA",
"entity_type": "gene"
},
{
"created": "2021-04-29T18:02:48.626101+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KMT2B as ready",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2021-04-29T18:02:48.615371+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt2b has been classified as Green List (High Evidence).",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2021-04-29T18:02:41.551612+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KMT2B were changed from to Dystonia 28, childhood-onset 617284; MONDO:0015004",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2021-04-29T18:02:23.947818+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KMT2B were set to ",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2021-04-29T18:02:05.807600+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7424",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KMT2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2021-04-29T18:01:48.544552+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KMT2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 27839873, 27992417; Phenotypes: Dystonia 28, childhood-onset 617284, MONDO:0015004; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2021-04-29T12:23:40.857075+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CIZ1 as ready",
"entity_name": "CIZ1",
"entity_type": "gene"
},
{
"created": "2021-04-29T12:23:40.847107+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ciz1 has been classified as Red List (Low Evidence).",
"entity_name": "CIZ1",
"entity_type": "gene"
},
{
"created": "2021-04-29T12:23:34.960887+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CIZ1 were changed from to Dystonia 23 MIM#614860",
"entity_name": "CIZ1",
"entity_type": "gene"
},
{
"created": "2021-04-29T12:22:25.661809+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CIZ1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CIZ1",
"entity_type": "gene"
},
{
"created": "2021-04-29T12:22:03.731643+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CIZ1 as Red List (low evidence)",
"entity_name": "CIZ1",
"entity_type": "gene"
},
{
"created": "2021-04-29T12:22:03.722671+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ciz1 has been classified as Red List (Low Evidence).",
"entity_name": "CIZ1",
"entity_type": "gene"
},
{
"created": "2021-04-29T12:21:27.636264+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CIZ1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia 23 MIM#614860; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CIZ1",
"entity_type": "gene"
},
{
"created": "2021-04-29T12:20:43.998532+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CIZ1 as ready",
"entity_name": "CIZ1",
"entity_type": "gene"
},
{
"created": "2021-04-29T12:20:43.987108+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ciz1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CIZ1",
"entity_type": "gene"
},
{
"created": "2021-04-29T12:20:37.040733+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CIZ1 were changed from to Dystonia 23 MIM#614860",
"entity_name": "CIZ1",
"entity_type": "gene"
},
{
"created": "2021-04-29T12:20:19.371421+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CIZ1 were set to ",
"entity_name": "CIZ1",
"entity_type": "gene"
},
{
"created": "2021-04-29T12:19:59.300227+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CIZ1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CIZ1",
"entity_type": "gene"
},
{
"created": "2021-04-29T12:19:43.378978+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CIZ1 as Amber List (moderate evidence)",
"entity_name": "CIZ1",
"entity_type": "gene"
},
{
"created": "2021-04-29T12:19:43.369568+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ciz1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CIZ1",
"entity_type": "gene"
},
{
"created": "2021-04-29T12:19:23.278148+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CIZ1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27163549, 29154038, 22447717; Phenotypes: Dystonia 23 MIM#614860; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CIZ1",
"entity_type": "gene"
},
{
"created": "2021-04-29T12:17:10.993493+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NPAS2 as ready",
"entity_name": "NPAS2",
"entity_type": "gene"
},
{
"created": "2021-04-29T12:17:10.982983+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: npas2 has been classified as Red List (Low Evidence).",
"entity_name": "NPAS2",
"entity_type": "gene"
},
{
"created": "2021-04-29T12:17:04.443107+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NPAS2 were changed from to Non-obstructive azoospermia",
"entity_name": "NPAS2",
"entity_type": "gene"
},
{
"created": "2021-04-29T12:16:45.615401+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NPAS2 were set to ",
"entity_name": "NPAS2",
"entity_type": "gene"
},
{
"created": "2021-04-29T12:16:27.773834+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NPAS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPAS2",
"entity_type": "gene"
},
{
"created": "2021-04-29T12:16:10.986896+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NPAS2 as Red List (low evidence)",
"entity_name": "NPAS2",
"entity_type": "gene"
},
{
"created": "2021-04-29T12:16:10.974729+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: npas2 has been classified as Red List (Low Evidence).",
"entity_name": "NPAS2",
"entity_type": "gene"
},
{
"created": "2021-04-29T10:57:32.636486+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PNKD as ready",
"entity_name": "PNKD",
"entity_type": "gene"
},
{
"created": "2021-04-29T10:57:32.625717+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnkd has been classified as Red List (Low Evidence).",
"entity_name": "PNKD",
"entity_type": "gene"
},
{
"created": "2021-04-29T10:57:29.481441+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PNKD were changed from to Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800; MONDO:0007326",
"entity_name": "PNKD",
"entity_type": "gene"
},
{
"created": "2021-04-29T10:56:59.841109+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PNKD were set to ",
"entity_name": "PNKD",
"entity_type": "gene"
},
{
"created": "2021-04-29T10:56:29.750232+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PNKD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PNKD",
"entity_type": "gene"
},
{
"created": "2021-04-29T10:56:08.108347+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PNKD as Red List (low evidence)",
"entity_name": "PNKD",
"entity_type": "gene"
},
{
"created": "2021-04-29T10:56:08.092920+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnkd has been classified as Red List (Low Evidence).",
"entity_name": "PNKD",
"entity_type": "gene"
},
{
"created": "2021-04-29T10:55:38.105627+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PNKD: Rating: RED; Mode of pathogenicity: None; Publications: 15262732, 15496428, 15824259, 19124534, 21487022; Phenotypes: Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800, MONDO:0007326; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PNKD",
"entity_type": "gene"
},
{
"created": "2021-04-29T10:54:40.566344+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7415",
"user_name": "Alison Compton",
"item_type": "entity",
"text": "changed review comment from: The brothers with NOA from consanguineous Turkish family, homozygous NM_002518.3(NPAS2) c.1363C>G; p.(Pro455Ala) variant identified. Heterozygous in mother, and fertile brother and sister. Not present in 1000 Genomes, EVS or gnomAD. Predicted to be “benign” by Polyphen2, and \"neutral\" by both SIFT and Mutation taster. Not predicted to in a functional domain. Not listed as a disease-gene in OMIM, no other 'pathogenic' or 'likely pathogenic' variants listed in ClinVar. Paper did not include any functional work.; to: Three brothers with NOA from consanguineous Turkish family, homozygous NM_002518.3(NPAS2) c.1363C>G; p.(Pro455Ala) variant identified. Found to be heterozygous in mother, and fertile brother and sister. Not present in 1000 Genomes, EVS or gnomAD. Predicted to be “benign” by Polyphen2, and \"neutral\" by both SIFT and Mutation taster. Not predicted to be within a functional domain. Gene not listed as a disease-gene in OMIM, no other 'pathogenic' or 'likely pathogenic' variants listed in ClinVar. Publication did not include any functional work as support.",
"entity_name": "NPAS2",
"entity_type": "gene"
},
{
"created": "2021-04-29T10:54:33.788578+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PNKD as ready",
"entity_name": "PNKD",
"entity_type": "gene"
},
{
"created": "2021-04-29T10:54:33.778249+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnkd has been classified as Green List (High Evidence).",
"entity_name": "PNKD",
"entity_type": "gene"
},
{
"created": "2021-04-29T10:54:26.920516+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PNKD were changed from to Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800; MONDO:0007326",
"entity_name": "PNKD",
"entity_type": "gene"
},
{
"created": "2021-04-29T10:54:06.831141+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PNKD were set to ",
"entity_name": "PNKD",
"entity_type": "gene"
},
{
"created": "2021-04-29T10:53:46.418253+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PNKD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PNKD",
"entity_type": "gene"
},
{
"created": "2021-04-29T10:53:30.457191+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PNKD: Rating: GREEN; Mode of pathogenicity: None; Publications: 15262732, 15496428, 15824259, 19124534, 21487022; Phenotypes: Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800, MONDO:0007326; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PNKD",
"entity_type": "gene"
},
{
"created": "2021-04-29T10:53:11.959782+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7412",
"user_name": "Alison Compton",
"item_type": "entity",
"text": "reviewed gene: NPAS2: Rating: RED; Mode of pathogenicity: Other; Publications: 25956372; Phenotypes: Non-obstructive azoospermia; Mode of inheritance: Unknown",
"entity_name": "NPAS2",
"entity_type": "gene"
},
{
"created": "2021-04-29T09:58:01.720521+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MECR as ready",
"entity_name": "MECR",
"entity_type": "gene"
},
{
"created": "2021-04-29T09:58:01.710258+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mecr has been classified as Green List (High Evidence).",
"entity_name": "MECR",
"entity_type": "gene"
},
{
"created": "2021-04-29T09:57:59.121324+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MECR were changed from to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282; MONDO:0015003",
"entity_name": "MECR",
"entity_type": "gene"
},
{
"created": "2021-04-29T09:57:35.691292+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.607",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MECR were set to ",
"entity_name": "MECR",
"entity_type": "gene"
},
{
"created": "2021-04-29T09:57:06.146075+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MECR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MECR",
"entity_type": "gene"
},
{
"created": "2021-04-29T09:56:39.413723+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.605",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MECR: Rating: GREEN; Mode of pathogenicity: None; Publications: 27817865, 33401012, 31137067, 31070877; Phenotypes: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282, MONDO:0015003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MECR",
"entity_type": "gene"
},
{
"created": "2021-04-29T09:55:47.512059+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MECR as ready",
"entity_name": "MECR",
"entity_type": "gene"
},
{
"created": "2021-04-29T09:55:47.501429+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mecr has been classified as Green List (High Evidence).",
"entity_name": "MECR",
"entity_type": "gene"
},
{
"created": "2021-04-29T09:55:40.325310+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MECR were changed from to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282; MONDO:0015003",
"entity_name": "MECR",
"entity_type": "gene"
},
{
"created": "2021-04-29T09:55:18.442351+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MECR were set to ",
"entity_name": "MECR",
"entity_type": "gene"
},
{
"created": "2021-04-29T09:55:00.316092+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MECR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MECR",
"entity_type": "gene"
},
{
"created": "2021-04-29T09:54:41.504078+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MECR: Rating: GREEN; Mode of pathogenicity: None; Publications: 27817865, 33401012, 31137067, 31070877; Phenotypes: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282, MONDO:0015003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MECR",
"entity_type": "gene"
},
{
"created": "2021-04-29T09:54:00.942899+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MECR were changed from Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM#617282 to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282; MONDO:0015003",
"entity_name": "MECR",
"entity_type": "gene"
},
{
"created": "2021-04-29T09:53:46.753722+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MECR were set to PMID: 27817865; 31137067",
"entity_name": "MECR",
"entity_type": "gene"
},
{
"created": "2021-04-29T09:53:23.734098+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MECR: Rating: GREEN; Mode of pathogenicity: None; Publications: 27817865, 33401012, 31137067, 31070877; Phenotypes: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282, MONDO:0015003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MECR",
"entity_type": "gene"
},
{
"created": "2021-04-29T09:48:04.638863+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HPCA as ready",
"entity_name": "HPCA",
"entity_type": "gene"
},
{
"created": "2021-04-29T09:48:04.625397+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hpca has been classified as Green List (High Evidence).",
"entity_name": "HPCA",
"entity_type": "gene"
},
{
"created": "2021-04-29T09:47:57.271423+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HPCA were changed from to Dystonia 2, torsion, autosomal recessive, MIM# 224500; MONDO:0009141",
"entity_name": "HPCA",
"entity_type": "gene"
},
{
"created": "2021-04-29T09:47:34.758101+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7408",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HPCA were set to ",
"entity_name": "HPCA",
"entity_type": "gene"
}
]
}