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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1862",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1860",
"results": [
{
"created": "2020-04-16T06:27:49.788998+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acox2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ACOX2",
"entity_type": "gene"
},
{
"created": "2020-04-16T06:22:27.700587+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LARS as ready",
"entity_name": "LARS",
"entity_type": "gene"
},
{
"created": "2020-04-16T06:22:27.691114+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lars has been classified as Green List (High Evidence).",
"entity_name": "LARS",
"entity_type": "gene"
},
{
"created": "2020-04-16T06:22:18.518066+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LARS as Green List (high evidence)",
"entity_name": "LARS",
"entity_type": "gene"
},
{
"created": "2020-04-16T06:22:18.509507+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lars has been classified as Green List (High Evidence).",
"entity_name": "LARS",
"entity_type": "gene"
},
{
"created": "2020-04-16T06:22:00.881778+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LARS was added\ngene: LARS was added to Mendeliome. Sources: NHS GMS\nMode of inheritance for gene: LARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LARS were set to 28774368; 30349989; 22607940\nPhenotypes for gene: LARS were set to Infantile liver failure syndrome 1, MIM# 615438\nReview for gene: LARS was set to GREEN\ngene: LARS was marked as current diagnostic\nAdded comment: Six unrelated families reported in the literature, reviewed in PMID: 30349989. \nSources: NHS GMS",
"entity_name": "LARS",
"entity_type": "gene"
},
{
"created": "2020-04-16T06:20:09.484095+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LARS as ready",
"entity_name": "LARS",
"entity_type": "gene"
},
{
"created": "2020-04-16T06:20:09.469581+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lars has been classified as Green List (High Evidence).",
"entity_name": "LARS",
"entity_type": "gene"
},
{
"created": "2020-04-16T06:20:06.530614+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LARS were changed from ?Infantile liver failure syndrome 1, 615438 to Infantile liver failure syndrome 1, MIM# 615438",
"entity_name": "LARS",
"entity_type": "gene"
},
{
"created": "2020-04-16T06:19:32.664001+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LARS as Green List (high evidence)",
"entity_name": "LARS",
"entity_type": "gene"
},
{
"created": "2020-04-16T06:19:32.655098+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lars has been classified as Green List (High Evidence).",
"entity_name": "LARS",
"entity_type": "gene"
},
{
"created": "2020-04-16T06:18:56.009679+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30349989; Phenotypes: Infantile liver failure syndrome 1, MIM# 615438; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LARS",
"entity_type": "gene"
},
{
"created": "2020-04-15T22:55:58.509607+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.1",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "gene: ACOX2 was added\ngene: ACOX2 was added to Peroxisomal Disorders. Sources: Expert Review\nMode of inheritance for gene: ACOX2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACOX2 were set to 27647924; 27884763\nPhenotypes for gene: ACOX2 were set to Bile acid synthesis defect, congenital, 6, 617308\nReview for gene: ACOX2 was set to AMBER\nAdded comment: Sources: Expert Review",
"entity_name": "ACOX2",
"entity_type": "gene"
},
{
"created": "2020-04-15T22:44:01.602339+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.6",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "reviewed gene: LARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 28774368, 30349989, 22607940; Phenotypes: ?Infantile liver failure syndrome 1, 615438; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LARS",
"entity_type": "gene"
},
{
"created": "2020-04-15T22:41:52.355562+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.6",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "LARS",
"entity_type": "gene"
},
{
"created": "2020-04-15T22:34:15.206513+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.6",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "LARS",
"entity_type": "gene"
},
{
"created": "2020-04-15T22:34:11.234702+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.6",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "LARS",
"entity_type": "gene"
},
{
"created": "2020-04-15T22:32:57.321419+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.6",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "commented on gene: LARS: Multiple families with variable ethnicity have been reported with this phenotype.",
"entity_name": "LARS",
"entity_type": "gene"
},
{
"created": "2020-04-15T22:31:46.670353+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.6",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "gene: LARS was added\ngene: LARS was added to Cholestasis. Sources: NHS GMS\nMode of inheritance for gene: LARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LARS were set to 28774368; 30349989; 22607940\nPhenotypes for gene: LARS were set to ?Infantile liver failure syndrome 1, 615438\nReview for gene: LARS was set to GREEN\nAdded comment: Sources: NHS GMS",
"entity_name": "LARS",
"entity_type": "gene"
},
{
"created": "2020-04-15T18:34:16.398684+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNJ11 as ready",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2020-04-15T18:34:16.389678+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj11 has been classified as Green List (High Evidence).",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2020-04-15T18:32:45.526740+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNJ11 were changed from to {Diabetes mellitus, type 2, susceptibility to} 125853; Diabetes mellitus, transient neonatal, 3 610582; Diabetes, permanent neonatal, with or without neurologic features 606176; Hyperinsulinemic hypoglycemia, familial, 2 601820; Maturity-onset diabetes of the young, type 13 616329 AD",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2020-04-15T18:32:30.687024+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNJ11 were set to ",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2020-04-15T18:32:16.513654+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: KCNJ11 was changed from to Other",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2020-04-15T17:44:11.490417+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNJ11 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2020-04-15T15:39:21.268856+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.19",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: CA8 was added\ngene: CA8 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review\nMode of inheritance for gene: CA8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CA8 were set to PMID: 31693170; 19461874; 23087022\nPhenotypes for gene: CA8 were set to Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 613227\nAdded comment: Cerebellar ataxia listed in OMIM\r\n\r\nPMID: 31693170, VCGS publication - 1 child with homozygous PTC and progressive cerebellar atrophy, poor oromotor coordination, marked cerebellar dysarthria. Paper reviews other findings for this gene (very few) and notes MRI findings of one additional patient with cerebellar hypoplasia, and another with cerebellar volume loss. Another patient is reported with cerebellar ataxia but had no MRI (PMID: 19461874).\r\n\r\nPMID: 23087022 - zebrafish mutant models demonstrate increased neuronal cell death in the cerebellum, lost cerebellar volume \nSources: Expert Review",
"entity_name": "CA8",
"entity_type": "gene"
},
{
"created": "2020-04-15T15:14:41.058130+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.19",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: B3GALNT2 was added\ngene: B3GALNT2 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review\nMode of inheritance for gene: B3GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: B3GALNT2 were set to PMID: 23453667; 29791932\nPhenotypes for gene: B3GALNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 615181\nReview for gene: B3GALNT2 was set to GREEN\nAdded comment: PMID: 23453667 - 5 unrelated patients reviewed, all less than 2 years old. Pontocerebellar hypoplasia reported in 2/5, cerebellar dysplasia in 2/5.\r\n\r\nPMID: 29791932 - 1 patient w/ pontocerebellar hypoplasia. Reviews previous reports and notes an additional two patients with hypoplastic pons and cerebellar cysts \nSources: Expert Review",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2020-04-15T15:12:41.482506+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.19",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: WDR37: Rating: GREEN; Mode of pathogenicity: None; Publications: 31327508; Phenotypes: Neurooculocardiogenitourinary syndrome (MIM#618652); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "WDR37",
"entity_type": "gene"
},
{
"created": "2020-04-15T14:58:20.318657+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.19",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: AUTS2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 17211639, 27075013, 22872102; Phenotypes: Mental retardation, autosomal dominant 26 615834; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2020-04-15T14:53:42.635436+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.19",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: WDR81 was added\ngene: WDR81 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review\nMode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WDR81 were set to 25558065; 21885617\nPhenotypes for gene: WDR81 were set to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2\nReview for gene: WDR81 was set to GREEN\nAdded comment: Associated with cerebellar hypoplasia\r\n\r\nPMID: 25558065; Alazami 2015: 1 hom missense reported. Severe cerebellar hypoplasia noted as cause of death. No additional information. \r\nPMID: 21885617: Gulsuner 2011: Hom missense reported in a large consang family as the cause of cerebellar hypoplasia\r\nKomara 2016: 2 sibs in consang fam. \nSources: Expert Review",
"entity_name": "WDR81",
"entity_type": "gene"
},
{
"created": "2020-04-15T14:40:49.772511+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.131",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-04-15T14:34:19.723481+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.130",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: STXBP2 as Red List (low evidence)",
"entity_name": "STXBP2",
"entity_type": "gene"
},
{
"created": "2020-04-15T14:34:19.708230+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.130",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: stxbp2 has been classified as Red List (Low Evidence).",
"entity_name": "STXBP2",
"entity_type": "gene"
},
{
"created": "2020-04-15T14:33:48.277949+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.129",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: STXBP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemophagocytic lymphohistiocytosis, familial, 5 MIM#613101; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STXBP2",
"entity_type": "gene"
},
{
"created": "2020-04-15T14:31:51.269682+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.129",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SLC37A4 as ready",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2020-04-15T14:31:51.255977+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.129",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: slc37a4 has been classified as Red List (Low Evidence).",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2020-04-15T14:30:51.194314+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.129",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SLC37A4 as Red List (low evidence)",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2020-04-15T14:30:51.180214+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.129",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: slc37a4 has been classified as Red List (Low Evidence).",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2020-04-15T14:30:23.471897+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.128",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: SLC37A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease Ib MIM#232220, Glycogen storage disease Ic MIM#232240; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2020-04-15T14:27:56.410153+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.128",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SKIV2L as ready",
"entity_name": "SKIV2L",
"entity_type": "gene"
},
{
"created": "2020-04-15T14:27:56.400563+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.128",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: skiv2l has been classified as Red List (Low Evidence).",
"entity_name": "SKIV2L",
"entity_type": "gene"
},
{
"created": "2020-04-15T14:27:46.094496+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.128",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SKIV2L as Red List (low evidence)",
"entity_name": "SKIV2L",
"entity_type": "gene"
},
{
"created": "2020-04-15T14:27:46.080959+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.128",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: skiv2l has been classified as Red List (Low Evidence).",
"entity_name": "SKIV2L",
"entity_type": "gene"
},
{
"created": "2020-04-15T14:27:16.890217+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.127",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: SKIV2L: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Trichohepatoenteric syndrome 2 MIM#614602; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SKIV2L",
"entity_type": "gene"
},
{
"created": "2020-04-15T14:27:04.191613+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.19",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: ADGRG1 was added\ngene: ADGRG1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review\nMode of inheritance for gene: ADGRG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADGRG1 were set to PMID: 20929962; 16240336\nPhenotypes for gene: ADGRG1 were set to Polymicrogyria, bilateral frontoparietal\t606854; Polymicrogyria, bilateral perisylvian\t615752\nReview for gene: ADGRG1 was set to GREEN\nAdded comment: aka GPR56\r\n\r\nPMID: 15044805 - paper linked from PanelApp UK - no patients with relevant phenotype\r\n\r\nPMID: 20929962 - terminated fetus with agenesis of the cerebellar vermis and hypoplastic cerebellar hemispheres, was homozygous for a missense. Cerebellar dysplasia was observed in all patients (13/13), with vermis involvement in 11/13 patients. Hypoplasia with flattening of the ventral portion of the pons at the level of the middle cerebellar peduncle was detected in all patients\r\n\r\nPMID: 16240336 - 17/18 families show brainstem/cerebellar hypoplasia \nSources: Expert Review",
"entity_name": "ADGRG1",
"entity_type": "gene"
},
{
"created": "2020-04-15T14:25:17.957232+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2282",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SIPA1L3 as ready",
"entity_name": "SIPA1L3",
"entity_type": "gene"
},
{
"created": "2020-04-15T14:25:17.943503+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2282",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sipa1l3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SIPA1L3",
"entity_type": "gene"
},
{
"created": "2020-04-15T14:25:02.444855+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2282",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SIPA1L3 as Amber List (moderate evidence)",
"entity_name": "SIPA1L3",
"entity_type": "gene"
},
{
"created": "2020-04-15T14:25:02.435500+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2282",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sipa1l3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SIPA1L3",
"entity_type": "gene"
},
{
"created": "2020-04-15T14:24:39.882231+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.127",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SIPA1L3 as ready",
"entity_name": "SIPA1L3",
"entity_type": "gene"
},
{
"created": "2020-04-15T14:24:39.872803+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.127",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sipa1l3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SIPA1L3",
"entity_type": "gene"
},
{
"created": "2020-04-15T14:24:31.043790+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2281",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SIPA1L3 was added\ngene: SIPA1L3 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: SIPA1L3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SIPA1L3 were set to 28951961; 27993984; 25804400\nPhenotypes for gene: SIPA1L3 were set to Cataract 45 MIM#616851\nReview for gene: SIPA1L3 was set to AMBER\nAdded comment: A consanguineous German family segregating a homozygous nonsense mutation in two sisters with congenital cataracts (PMID: 25804400). Null Zebrafish, Xenopus and mouse models recapitulate the human cataract phenotype. A case with congenital cataracts as a feature of their condition harboured a de novo balanced chromosomal translocation, 46,XY,t(2;19)(q37.3;q13.1), where breakpoint mapping and sequencing showed a physical disruption of the 5′UTR of SIPA1L3 (PMID: 26231217). In a case with bilateral congenital cataracts a heterozygous missense (D148Y) was identified and in vitro functional assays of the variant resulted in abnormal actin morphology (PMID: 26231217). \nSources: Expert list",
"entity_name": "SIPA1L3",
"entity_type": "gene"
},
{
"created": "2020-04-15T14:23:33.919406+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.127",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SIPA1L3 as Amber List (moderate evidence)",
"entity_name": "SIPA1L3",
"entity_type": "gene"
},
{
"created": "2020-04-15T14:23:33.912743+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.127",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is growing evidence supporting biallelic inheritance",
"entity_name": "SIPA1L3",
"entity_type": "gene"
},
{
"created": "2020-04-15T14:23:33.880400+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.127",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sipa1l3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SIPA1L3",
"entity_type": "gene"
},
{
"created": "2020-04-15T14:21:52.055788+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.126",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SIPA1L3 was added\ngene: SIPA1L3 was added to Cataract. Sources: Expert list\nMode of inheritance for gene: SIPA1L3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SIPA1L3 were set to 28951961; 27993984; 25804400\nPhenotypes for gene: SIPA1L3 were set to Cataract 45 MIM#616851\nReview for gene: SIPA1L3 was set to AMBER\nAdded comment: A consanguineous German family segregating a homozygous nonsense mutation in two sisters with congenital cataracts (PMID: 25804400). Null Zebrafish, Xenopus and mouse models recapitulate the human cataract phenotype. A case with congenital cataracts as a feature of their condition harboured a de novo balanced chromosomal translocation, 46,XY,t(2;19)(q37.3;q13.1), where breakpoint mapping and sequencing showed a physical disruption of the 5′UTR of SIPA1L3 (PMID: 26231217). In a case with bilateral congenital cataracts a heterozygous missense (D148Y) was identified and in vitro functional assays of the variant resulted in abnormal actin morphology (PMID: 26231217). \nSources: Expert list",
"entity_name": "SIPA1L3",
"entity_type": "gene"
},
{
"created": "2020-04-15T13:56:10.412102+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.125",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SH2D1A as ready",
"entity_name": "SH2D1A",
"entity_type": "gene"
},
{
"created": "2020-04-15T13:56:10.398173+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.125",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sh2d1a has been classified as Red List (Low Evidence).",
"entity_name": "SH2D1A",
"entity_type": "gene"
},
{
"created": "2020-04-15T13:55:52.374657+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.125",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SH2D1A as Red List (low evidence)",
"entity_name": "SH2D1A",
"entity_type": "gene"
},
{
"created": "2020-04-15T13:55:52.361403+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.125",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sh2d1a has been classified as Red List (Low Evidence).",
"entity_name": "SH2D1A",
"entity_type": "gene"
},
{
"created": "2020-04-15T13:54:40.213509+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.124",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: SH2D1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lymphoproliferative syndrome, X-linked, 1 MIM#308240; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SH2D1A",
"entity_type": "gene"
},
{
"created": "2020-04-15T13:51:57.697060+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.124",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RET as Red List (low evidence)",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2020-04-15T13:51:57.682912+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.124",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ret has been classified as Red List (Low Evidence).",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2020-04-15T13:50:03.143948+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.123",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: RET: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2020-04-15T13:44:19.587519+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.123",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: RAG2 as ready",
"entity_name": "RAG2",
"entity_type": "gene"
},
{
"created": "2020-04-15T13:44:19.578706+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.123",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rag2 has been classified as Red List (Low Evidence).",
"entity_name": "RAG2",
"entity_type": "gene"
},
{
"created": "2020-04-15T13:44:05.430939+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.123",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RAG2 as Red List (low evidence)",
"entity_name": "RAG2",
"entity_type": "gene"
},
{
"created": "2020-04-15T13:44:05.417210+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.123",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rag2 has been classified as Red List (Low Evidence).",
"entity_name": "RAG2",
"entity_type": "gene"
},
{
"created": "2020-04-15T13:43:34.962452+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.122",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: RAG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined cellular and humoral immune defects with granulomas MIM#233650, Omenn syndrome MIM#603554, Severe combined immunodeficiency, B cell-negative MIM#601457; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAG2",
"entity_type": "gene"
},
{
"created": "2020-04-15T13:40:42.831281+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.122",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: POMT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2020-04-15T13:40:33.861885+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.121",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: POMT2 as ready",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2020-04-15T13:40:33.848179+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.121",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pomt2 has been classified as Green List (High Evidence).",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2020-04-15T13:40:10.757168+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.121",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: POMT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15894594, 17878207; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 MIM#613150, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 MIM#613156, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 MIM#613158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2020-04-15T13:36:16.933706+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.121",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: POMT1 as ready",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2020-04-15T13:36:16.922680+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.121",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pomt1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2020-04-15T13:36:10.612048+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.121",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: POMT1 as Amber List (moderate evidence)",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2020-04-15T13:36:10.597597+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.121",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pomt1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2020-04-15T13:35:42.336154+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.120",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: POMT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 17878207, 19299310; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 MIM#236670, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 MIM#613155, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 MIM#609308; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2020-04-15T13:29:53.935912+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2280",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "edited their review of gene: KCNJ11: Added comment: Congenital hyperinsulinism (HI) variants are generally reported in heterozygous patients where they also carry a somatic 2nd hit, or have isodisomy of the paternal allele (focal HI), or in bilallelic patients (diffuse HI). This condition can be dominant (but rarely), where patients with these missense are diazoxide-responsive. Patients with recessively inherited variants are diazoxide-unresponsive (OMIM, PMID:11395395, PMID: 23275527, PMID: 23345197).\r\n\r\nGenotype-phenotype correlation:\r\nPermanent neonatal diabetes – GOF (OMIM)\r\nPermanent neonatal diabetes + other features – GOF (OMIM)\r\nCongenital hyperinsulinism – LOF (PMID:18250167).\r\n\r\nPTCs - LOF\r\nMissense - Loss and gain of function\r\nLOF – cause reduce channel expression, channel activity and increase current decay (PMID:18250167)\r\nGOF - impair ATP-based sensitivity, more open state channel (OMIM)\r\n\r\nMutations generally occur on the paternal allele (PMID: 23345197).; Changed publications: PMID:18250167, 11395395, 23275527, 23345197",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2020-04-15T13:29:09.184150+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2280",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: KCNJ11: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: {Diabetes mellitus, type 2, susceptibility to} 125853, Diabetes mellitus, transient neonatal, 3 610582, Diabetes, permanent neonatal, with or without neurologic features 606176, Hyperinsulinemic hypoglycemia, familial, 2 601820, Maturity-onset diabetes of the young, type 13 616329 AD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2020-04-15T13:12:24.938001+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.120",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PLCG2 as ready",
"entity_name": "PLCG2",
"entity_type": "gene"
},
{
"created": "2020-04-15T13:12:24.928504+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.120",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: plcg2 has been classified as Red List (Low Evidence).",
"entity_name": "PLCG2",
"entity_type": "gene"
},
{
"created": "2020-04-15T13:12:17.773782+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.120",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PLCG2 as Red List (low evidence)",
"entity_name": "PLCG2",
"entity_type": "gene"
},
{
"created": "2020-04-15T13:12:17.764601+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.120",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: plcg2 has been classified as Red List (Low Evidence).",
"entity_name": "PLCG2",
"entity_type": "gene"
},
{
"created": "2020-04-15T13:11:48.295638+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.119",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: PLCG2: Rating: RED; Mode of pathogenicity: Other; Publications: 23000145; Phenotypes: Autoinflammation, antibody deficiency, and immune dysregulation syndrome MIM#614878; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PLCG2",
"entity_type": "gene"
},
{
"created": "2020-04-15T13:02:42.303672+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.60",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: DNM1L was added\ngene: DNM1L was added to Optic Atrophy. Sources: Expert Review\nMode of inheritance for gene: DNM1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: DNM1L were set to 28969390; 30850373; 17460227\nPhenotypes for gene: DNM1L were set to Optic atrophy 5 (MIM#610708)\nMode of pathogenicity for gene: DNM1L was set to Other\nReview for gene: DNM1L was set to GREEN\nAdded comment: Reported in patients with isolated OA and as a feature of a multisystem disorder\r\n\r\nPMID: 28969390; Gerber 2017: 2 different variants reported in 3 large families with isolated DOA. Functional studies shown to exert dominant-negative effect\r\nPMID: 30850373; Assia 2019: Optic atrophy reported as a feature in a patient with a de novo missense. (reported gene as DLP1)\r\nPMID: 17460227; Waterham 2007; Optic atrophy reported as a feature in 1 patient \nSources: Expert Review",
"entity_name": "DNM1L",
"entity_type": "gene"
},
{
"created": "2020-04-15T13:02:15.152579+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.119",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: OAT as ready",
"entity_name": "OAT",
"entity_type": "gene"
},
{
"created": "2020-04-15T13:02:15.126834+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.119",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: oat has been classified as Green List (High Evidence).",
"entity_name": "OAT",
"entity_type": "gene"
},
{
"created": "2020-04-15T13:02:01.976763+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.119",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: OAT as Green List (high evidence)",
"entity_name": "OAT",
"entity_type": "gene"
},
{
"created": "2020-04-15T13:02:01.957691+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.119",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: oat has been classified as Green List (High Evidence).",
"entity_name": "OAT",
"entity_type": "gene"
},
{
"created": "2020-04-15T13:01:13.290833+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.118",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: OAT was added\ngene: OAT was added to Cataract. Sources: Expert list\nMode of inheritance for gene: OAT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OAT were set to 22674428; 11297489\nPhenotypes for gene: OAT were set to Gyrate atrophy of choroid and retina with or without ornithinemia MIM#258870\nReview for gene: OAT was set to GREEN\nAdded comment: Onset of cataract in the second/third decade is a common feature of this condition. \nSources: Expert list",
"entity_name": "OAT",
"entity_type": "gene"
},
{
"created": "2020-04-15T12:19:02.734065+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.60",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: POLG: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 31613174, 20142534, 30395865; Phenotypes: Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700, Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662, Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459, Progressive external ophthalmoplegia, autosomal dominant 1 157640, Progressive external ophthalmoplegia, autosomal recessive 1 258450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-04-15T12:18:59.062552+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.117",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: NCF4 as ready",
"entity_name": "NCF4",
"entity_type": "gene"
},
{
"created": "2020-04-15T12:18:59.048995+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.117",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ncf4 has been classified as Red List (Low Evidence).",
"entity_name": "NCF4",
"entity_type": "gene"
},
{
"created": "2020-04-15T12:18:19.957604+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.117",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NCF4 as Red List (low evidence)",
"entity_name": "NCF4",
"entity_type": "gene"
},
{
"created": "2020-04-15T12:18:19.948643+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.117",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ncf4 has been classified as Red List (Low Evidence).",
"entity_name": "NCF4",
"entity_type": "gene"
},
{
"created": "2020-04-15T12:17:51.633286+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.116",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: NCF4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III MIM#613960; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NCF4",
"entity_type": "gene"
},
{
"created": "2020-04-15T12:16:13.319478+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.116",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: NCF2 as ready",
"entity_name": "NCF2",
"entity_type": "gene"
},
{
"created": "2020-04-15T12:16:13.304867+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.116",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ncf2 has been classified as Red List (Low Evidence).",
"entity_name": "NCF2",
"entity_type": "gene"
},
{
"created": "2020-04-15T12:16:06.538639+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.116",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NCF2 as Red List (low evidence)",
"entity_name": "NCF2",
"entity_type": "gene"
}
]
}