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{
"count": 220497,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1542",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1540",
"results": [
{
"created": "2020-10-14T10:57:26.084425+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4899",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rgr has been classified as Red List (Low Evidence).",
"entity_name": "RGR",
"entity_type": "gene"
},
{
"created": "2020-10-14T10:57:19.489421+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4899",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RGR were changed from to Retinitis pigmentosa 44, MIM# 613769",
"entity_name": "RGR",
"entity_type": "gene"
},
{
"created": "2020-10-14T10:56:50.577671+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4898",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RGR were set to ",
"entity_name": "RGR",
"entity_type": "gene"
},
{
"created": "2020-10-14T10:56:31.694633+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4897",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RGR was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RGR",
"entity_type": "gene"
},
{
"created": "2020-10-14T10:56:14.666439+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4896",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RGR as Red List (low evidence)",
"entity_name": "RGR",
"entity_type": "gene"
},
{
"created": "2020-10-14T10:56:14.659052+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4896",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rgr has been classified as Red List (Low Evidence).",
"entity_name": "RGR",
"entity_type": "gene"
},
{
"created": "2020-10-14T10:55:56.754639+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4895",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RGR: Rating: RED; Mode of pathogenicity: None; Publications: 10581022, 30347075, 27748892, 27623334; Phenotypes: Retinitis pigmentosa 44, MIM# 613769; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RGR",
"entity_type": "gene"
},
{
"created": "2020-10-14T10:54:44.247323+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RGR as ready",
"entity_name": "RGR",
"entity_type": "gene"
},
{
"created": "2020-10-14T10:54:44.234373+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rgr has been classified as Red List (Low Evidence).",
"entity_name": "RGR",
"entity_type": "gene"
},
{
"created": "2020-10-14T10:54:40.299973+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RGR were set to ",
"entity_name": "RGR",
"entity_type": "gene"
},
{
"created": "2020-10-14T10:54:31.362465+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RGR as Red List (low evidence)",
"entity_name": "RGR",
"entity_type": "gene"
},
{
"created": "2020-10-14T10:54:31.352305+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rgr has been classified as Red List (Low Evidence).",
"entity_name": "RGR",
"entity_type": "gene"
},
{
"created": "2020-10-14T10:54:22.756124+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: RGR.",
"entity_name": "RGR",
"entity_type": "gene"
},
{
"created": "2020-10-14T10:54:14.043033+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RGR: Rating: RED; Mode of pathogenicity: None; Publications: 10581022, 30347075, 27748892, 27623334; Phenotypes: Retinitis pigmentosa 44, MIM# 613769; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RGR",
"entity_type": "gene"
},
{
"created": "2020-10-14T10:04:57.025432+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4895",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RDH11 as ready",
"entity_name": "RDH11",
"entity_type": "gene"
},
{
"created": "2020-10-14T10:04:57.014869+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4895",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rdh11 has been classified as Red List (Low Evidence).",
"entity_name": "RDH11",
"entity_type": "gene"
},
{
"created": "2020-10-14T10:04:41.876540+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4895",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RDH11 was added\ngene: RDH11 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: RDH11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RDH11 were set to 24916380; 15634683; 30731079; 18326732\nPhenotypes for gene: RDH11 were set to Retinal dystrophy, juvenile cataracts, and short stature syndrome, MIM# 616108\nReview for gene: RDH11 was set to RED\nAdded comment: Single family reported with compound heterozygous LOF variants segregating with disease in three siblings. Some functional data, but note mouse KO did not have eye phenotype. \nSources: Expert list",
"entity_name": "RDH11",
"entity_type": "gene"
},
{
"created": "2020-10-14T10:03:01.511234+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RDH11 as ready",
"entity_name": "RDH11",
"entity_type": "gene"
},
{
"created": "2020-10-14T10:03:01.503043+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rdh11 has been classified as Red List (Low Evidence).",
"entity_name": "RDH11",
"entity_type": "gene"
},
{
"created": "2020-10-14T10:02:59.222803+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RDH11 were changed from to Retinal dystrophy, juvenile cataracts, and short stature syndrome, MIM# 616108",
"entity_name": "RDH11",
"entity_type": "gene"
},
{
"created": "2020-10-14T10:02:49.699130+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RDH11 were set to ",
"entity_name": "RDH11",
"entity_type": "gene"
},
{
"created": "2020-10-14T10:02:40.151451+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RDH11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RDH11",
"entity_type": "gene"
},
{
"created": "2020-10-14T10:02:29.241914+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RDH11 as Red List (low evidence)",
"entity_name": "RDH11",
"entity_type": "gene"
},
{
"created": "2020-10-14T10:02:29.230313+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rdh11 has been classified as Red List (Low Evidence).",
"entity_name": "RDH11",
"entity_type": "gene"
},
{
"created": "2020-10-14T10:02:17.038762+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RDH11: Rating: RED; Mode of pathogenicity: None; Publications: 24916380, 15634683, 30731079, 18326732; Phenotypes: Retinal dystrophy, juvenile cataracts, and short stature syndrome, MIM# 616108; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RDH11",
"entity_type": "gene"
},
{
"created": "2020-10-14T08:11:09.621514+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4894",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP112 as ready",
"entity_name": "CEP112",
"entity_type": "gene"
},
{
"created": "2020-10-14T08:11:09.610949+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4894",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep112 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CEP112",
"entity_type": "gene"
},
{
"created": "2020-10-14T08:11:00.283838+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4894",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP112 were changed from Acephalic spermatozoa; infertility to Spermatogenic failure 44, MIM#619044; Acephalic spermatozoa; infertility",
"entity_name": "CEP112",
"entity_type": "gene"
},
{
"created": "2020-10-14T08:10:34.421127+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CEP112: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 44, MIM#619044; Mode of inheritance: None",
"entity_name": "CEP112",
"entity_type": "gene"
},
{
"created": "2020-10-14T08:09:10.509246+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SVIL were changed from myopathy to Myofibrillar myopathy, MIM#619040",
"entity_name": "SVIL",
"entity_type": "gene"
},
{
"created": "2020-10-14T08:08:51.642999+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SVIL: Changed rating: AMBER; Changed phenotypes: Myofibrillar myopathy, MIM#619040",
"entity_name": "SVIL",
"entity_type": "gene"
},
{
"created": "2020-10-13T18:51:29.303904+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRDM13 were set to 29258872; 28973654; 26507665",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2020-10-13T18:51:08.320035+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRDM13: Rating: GREEN; Mode of pathogenicity: None; Publications: 30710461; Phenotypes: Retinal dystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2020-10-13T18:47:53.649319+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: PRDM13.\nTag 5'UTR tag was added to gene: PRDM13.",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2020-10-13T18:47:07.550399+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRDM13 as ready",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2020-10-13T18:47:07.541731+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prdm13 has been classified as Green List (High Evidence).",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2020-10-13T18:47:03.794162+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag 5'UTR tag was added to gene: PRDM13.",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2020-10-13T18:43:38.687791+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: POMGNT1: Changed phenotypes: Retinitis pigmentosa 76, MIM#617123",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2020-10-13T18:43:24.272435+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POMGNT1 as ready",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2020-10-13T18:43:24.263599+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomgnt1 has been classified as Green List (High Evidence).",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2020-10-13T18:43:20.774992+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POMGNT1 were changed from Retinitis pigmentosa 76 to Retinitis pigmentosa 76, MIM#617123",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2020-10-13T18:43:01.326639+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POMGNT1 were set to ",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2020-10-13T18:42:48.581833+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POMGNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27391550, 26908613; Phenotypes: Retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2020-10-13T18:32:31.193149+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PNPLA6: Changed publications: 24355708, 25033069",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2020-10-13T18:31:59.705312+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Ataxia is part of the phenotype. \nSources: Expert list; to: Choreoretinal dystrophy is part of the phenotype. \r\nSources: Expert list",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2020-10-13T18:29:28.564381+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Microcephaly and chorioretinopathy, autosomal recessive, 2, MIM# 616171; to: Microcephaly and chorioretinopathy, autosomal recessive, 2, MIM# 616171, three unrelated families reported.",
"entity_name": "PLK4",
"entity_type": "gene"
},
{
"created": "2020-10-13T18:20:54.064099+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDE6H as ready",
"entity_name": "PDE6H",
"entity_type": "gene"
},
{
"created": "2020-10-13T18:20:54.056035+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde6h has been classified as Red List (Low Evidence).",
"entity_name": "PDE6H",
"entity_type": "gene"
},
{
"created": "2020-10-13T18:20:51.841722+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDE6H were changed from Retinal Cone Dystrophy 3, 610024; Achromatopsia 6, 610024 to Retinal Cone Dystrophy 3, 610024",
"entity_name": "PDE6H",
"entity_type": "gene"
},
{
"created": "2020-10-13T18:20:41.096262+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDE6H were set to 30679166",
"entity_name": "PDE6H",
"entity_type": "gene"
},
{
"created": "2020-10-13T18:18:30.932875+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDE6H was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDE6H",
"entity_type": "gene"
},
{
"created": "2020-10-13T18:18:08.086903+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDE6H as Red List (low evidence)",
"entity_name": "PDE6H",
"entity_type": "gene"
},
{
"created": "2020-10-13T18:18:08.078417+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde6h has been classified as Red List (Low Evidence).",
"entity_name": "PDE6H",
"entity_type": "gene"
},
{
"created": "2020-10-13T18:17:58.674551+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PDE6H: Rating: RED; Mode of pathogenicity: None; Publications: 15629837, 22901948; Phenotypes: Retinal cone dystrophy 3, MIM# 610024; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDE6H",
"entity_type": "gene"
},
{
"created": "2020-10-13T17:35:15.563596+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAX2 as ready",
"entity_name": "PAX2",
"entity_type": "gene"
},
{
"created": "2020-10-13T17:35:15.550768+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pax2 has been classified as Green List (High Evidence).",
"entity_name": "PAX2",
"entity_type": "gene"
},
{
"created": "2020-10-13T17:35:13.074480+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAX2 were changed from to Papillorenal syndrome, MIM# 120330",
"entity_name": "PAX2",
"entity_type": "gene"
},
{
"created": "2020-10-13T17:34:29.852801+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PAX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAX2",
"entity_type": "gene"
},
{
"created": "2020-10-13T17:34:20.087582+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PAX2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Papillorenal syndrome, MIM# 120330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAX2",
"entity_type": "gene"
},
{
"created": "2020-10-13T17:29:29.123241+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: P3H2 as ready",
"entity_name": "P3H2",
"entity_type": "gene"
},
{
"created": "2020-10-13T17:29:29.110039+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: p3h2 has been classified as Green List (High Evidence).",
"entity_name": "P3H2",
"entity_type": "gene"
},
{
"created": "2020-10-13T17:07:57.597408+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPC6 as ready",
"entity_name": "GPC6",
"entity_type": "gene"
},
{
"created": "2020-10-13T17:07:57.579299+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpc6 has been classified as Green List (High Evidence).",
"entity_name": "GPC6",
"entity_type": "gene"
},
{
"created": "2020-10-13T17:07:39.227887+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: GPC6.",
"entity_name": "GPC6",
"entity_type": "gene"
},
{
"created": "2020-10-13T17:07:21.310085+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GPC6 were changed from to Omodysplasia 1 (MIM#258315), AR",
"entity_name": "GPC6",
"entity_type": "gene"
},
{
"created": "2020-10-13T17:06:42.656250+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GPC6 were set to ",
"entity_name": "GPC6",
"entity_type": "gene"
},
{
"created": "2020-10-13T17:06:25.234107+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GPC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GPC6",
"entity_type": "gene"
},
{
"created": "2020-10-13T12:15:56.487057+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4889",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "reviewed gene: GPC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 19481194; Phenotypes: Omodysplasia 1 (MIM#258315), AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GPC6",
"entity_type": "gene"
},
{
"created": "2020-10-13T07:37:44.572251+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TINF2 as ready",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2020-10-13T07:37:44.557988+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tinf2 has been classified as Green List (High Evidence).",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2020-10-13T07:37:40.319085+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TINF2 as Green List (high evidence)",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2020-10-13T07:37:40.307671+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tinf2 has been classified as Green List (High Evidence).",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2020-10-13T07:37:30.438799+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TINF2 was added\ngene: TINF2 was added to Syndromic Retinopathy. Sources: Expert list\nMode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TINF2 were set to 18252230; 21477109; 28095086; 28866069; 29749240; 30478948\nPhenotypes for gene: TINF2 were set to Revesz syndrome, 268130\nReview for gene: TINF2 was set to GREEN\nAdded comment: Bilateral exudative retinopathy is a defining feature of Revesz syndrome, in addition to other manifestations such as bone marrow failure, intracranial calcification and cerebellar hypoplasia. Multiple (>3) unrelated cases reported in literature with retinal findings. \nSources: Expert list",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2020-10-12T18:54:55.678098+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPATA7 as ready",
"entity_name": "SPATA7",
"entity_type": "gene"
},
{
"created": "2020-10-12T18:54:55.666489+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spata7 has been classified as Green List (High Evidence).",
"entity_name": "SPATA7",
"entity_type": "gene"
},
{
"created": "2020-10-12T18:54:53.021751+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPATA7 were set to ",
"entity_name": "SPATA7",
"entity_type": "gene"
},
{
"created": "2020-10-12T18:54:39.680673+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPATA7: Rating: GREEN; Mode of pathogenicity: None; Publications: 31908400, 32799588; Phenotypes: Leber congenital amaurosis 3, MIM#604232, Autosomal recessive juvenile retinitis pigmentosa, MIM#604232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPATA7",
"entity_type": "gene"
},
{
"created": "2020-10-12T18:53:19.173865+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPATA7 as ready",
"entity_name": "SPATA7",
"entity_type": "gene"
},
{
"created": "2020-10-12T18:53:19.162869+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spata7 has been classified as Green List (High Evidence).",
"entity_name": "SPATA7",
"entity_type": "gene"
},
{
"created": "2020-10-12T18:53:12.289667+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPATA7 were changed from to Leber congenital amaurosis 3, MIM#604232; Autosomal recessive juvenile retinitis pigmentosa, MIM#604232",
"entity_name": "SPATA7",
"entity_type": "gene"
},
{
"created": "2020-10-12T18:52:53.368855+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4888",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPATA7 were set to ",
"entity_name": "SPATA7",
"entity_type": "gene"
},
{
"created": "2020-10-12T18:52:32.561941+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4887",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPATA7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPATA7",
"entity_type": "gene"
},
{
"created": "2020-10-12T17:36:51.741319+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4886",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: SPATA7: Rating: GREEN; Mode of pathogenicity: None; Publications: 31908400, 32799588; Phenotypes: Leber congenital amaurosis 3, MIM#604232, Autosomal recessive juvenile retinitis pigmentosa, MIM#604232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SPATA7",
"entity_type": "gene"
},
{
"created": "2020-10-12T16:52:11.092287+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PKHD1 as ready",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2020-10-12T16:52:11.080521+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pkhd1 has been classified as Green List (High Evidence).",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2020-10-12T16:52:05.120713+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PKHD1 as Green List (high evidence)",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2020-10-12T16:52:05.110311+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pkhd1 has been classified as Green List (High Evidence).",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2020-10-12T16:51:33.996417+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PKHD1 was added\ngene: PKHD1 was added to Renal Ciliopathies and Nephronophthisis. Sources: Expert Review\nMode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PKHD1 were set to Polycystic kidney disease 4, with or without hepatic disease, MIM#\t263200\nReview for gene: PKHD1 was set to GREEN\nAdded comment: Included due to possible phenotypic overlap. \nSources: Expert Review",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2020-10-12T13:36:33.955965+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIRREL3 as ready",
"entity_name": "KIRREL3",
"entity_type": "gene"
},
{
"created": "2020-10-12T13:36:33.948488+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kirrel3 has been classified as Red List (Low Evidence).",
"entity_name": "KIRREL3",
"entity_type": "gene"
},
{
"created": "2020-10-12T13:36:24.404341+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIRREL3 was added\ngene: KIRREL3 was added to Mendeliome. Sources: Expert list\nrefuted tags were added to gene: KIRREL3.\nMode of inheritance for gene: KIRREL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KIRREL3 were set to 19012874\nPhenotypes for gene: KIRREL3 were set to Intellectual disability\nReview for gene: KIRREL3 was set to RED\nAdded comment: Variants associated with ID have now been re-classified based on population frequency. \nSources: Expert list",
"entity_name": "KIRREL3",
"entity_type": "gene"
},
{
"created": "2020-10-12T13:34:44.797608+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3065",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag refuted tag was added to gene: KIRREL3.",
"entity_name": "KIRREL3",
"entity_type": "gene"
},
{
"created": "2020-10-12T13:21:48.990353+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NEUROD1 as ready",
"entity_name": "NEUROD1",
"entity_type": "gene"
},
{
"created": "2020-10-12T13:21:48.970690+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: neurod1 has been classified as Green List (High Evidence).",
"entity_name": "NEUROD1",
"entity_type": "gene"
},
{
"created": "2020-10-12T13:21:42.328180+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NEUROD1 were changed from to Maturity-onset diabetes of the young 6, MIM#606394; Retinitis pigmentosa, retinopathy, permanent neonatal diabetes",
"entity_name": "NEUROD1",
"entity_type": "gene"
},
{
"created": "2020-10-12T13:21:23.840698+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4884",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NEUROD1 were set to ",
"entity_name": "NEUROD1",
"entity_type": "gene"
},
{
"created": "2020-10-12T13:20:50.929194+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NEUROD1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NEUROD1",
"entity_type": "gene"
},
{
"created": "2020-10-12T13:20:33.776420+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4882",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NEUROD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25477324, 25684977, 22784109, 29521454; Phenotypes: Maturity-onset diabetes of the young 6, MIM#606394, Retinitis pigmentosa, retinopathy, permanent neonatal diabetes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NEUROD1",
"entity_type": "gene"
},
{
"created": "2020-10-12T13:18:43.507565+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NEUROD1 as ready",
"entity_name": "NEUROD1",
"entity_type": "gene"
},
{
"created": "2020-10-12T13:18:43.498947+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: neurod1 has been classified as Green List (High Evidence).",
"entity_name": "NEUROD1",
"entity_type": "gene"
}
]
}