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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1792",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1790",
"results": [
{
"created": "2020-05-22T19:41:08.707207+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fat1 has been classified as Green List (High Evidence).",
"entity_name": "FAT1",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:41:02.624854+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FAT1 as Green List (high evidence)",
"entity_name": "FAT1",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:41:02.612471+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fat1 has been classified as Green List (High Evidence).",
"entity_name": "FAT1",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:39:21.236515+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FAT1 was added\ngene: FAT1 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Expert Review\nMode of inheritance for gene: FAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAT1 were set to 30862798; 26905694\nPhenotypes for gene: FAT1 were set to facial dysmorphism; colobomatous microphthalmia; ptosis; syndactyly with or without nephropathy\nReview for gene: FAT1 was set to GREEN\nAdded comment: 5 families reported with eye abnormalities in addition to the renal phenotype. \nSources: Expert Review",
"entity_name": "FAT1",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:36:23.077464+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "FAT1",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:36:17.388684+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FAT1: Added comment: Another 5 families reported.; Changed rating: GREEN; Changed publications: 30862798; Changed phenotypes: facial dysmorphism, colobomatous microphthalmia, ptosis, syndactyly with or without nephropathy; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FAT1",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:34:58.802642+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAT1 as ready",
"entity_name": "FAT1",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:34:58.798375+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Five families reported.",
"entity_name": "FAT1",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:34:58.765684+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fat1 has been classified as Green List (High Evidence).",
"entity_name": "FAT1",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:34:51.101561+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FAT1 were changed from to facial dysmorphism; colobomatous microphthalmia; ptosis; syndactyly with or without nephropathy",
"entity_name": "FAT1",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:34:25.826029+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FAT1 were set to ",
"entity_name": "FAT1",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:31:04.063962+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FAT1",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:29:01.631680+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAT1 as ready",
"entity_name": "FAT1",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:29:01.617330+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fat1 has been classified as Green List (High Evidence).",
"entity_name": "FAT1",
"entity_type": "gene"
},
{
"created": "2020-05-22T19:28:51.389515+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FAT1 were changed from to facial dysmorphism; colobomatous microphthalmia; ptosis; syndactyly with or without nephropathy",
"entity_name": "FAT1",
"entity_type": "gene"
},
{
"created": "2020-05-22T18:50:50.931097+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2863",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FAT1 were set to ",
"entity_name": "FAT1",
"entity_type": "gene"
},
{
"created": "2020-05-22T18:50:27.486375+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FAT1",
"entity_type": "gene"
},
{
"created": "2020-05-22T18:46:56.759971+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OPN1SW as ready",
"entity_name": "OPN1SW",
"entity_type": "gene"
},
{
"created": "2020-05-22T18:46:56.746060+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: opn1sw has been classified as Green List (High Evidence).",
"entity_name": "OPN1SW",
"entity_type": "gene"
},
{
"created": "2020-05-22T17:21:24.032451+10:00",
"panel_name": "Retinal Disorders",
"panel_id": 3124,
"panel_version": "0.92",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Changed child panels to: Syndromic Retinopathy; Autosomal Recessive/X-Linked Retinitis Pigmentosa; Bardet Biedl syndrome; Macular Dystrophy/Stargardt Disease; Cone-rod Dystrophy; Achromatopsia; Autosomal Dominant Retinitis Pigmentosa; Usher Syndrome; Vitreoretinopathy; Foveal Hypoplasia; Stickler Syndrome; Congenital Stationary Night Blindness",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-05-22T17:19:05.388118+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.38",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:BBIP1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-05-22T17:08:05.011383+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.63",
"user_name": "Lauren Akesson",
"item_type": "entity",
"text": "reviewed gene: PAX6: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 12731001; Phenotypes: ?Coloboma of optic nerve MIM# 120430, ?Coloboma, ocular MIM# 120200, ?Morning glory disc anomaly MIM# 120430, Aniridia MIM# 106210, Anterior segment dysgenesis 5, multiple subtypes MIM# 604229, Cataract with late-onset corneal dystrophy MIM# 106210, Foveal hypoplasia 1 MIM# 136520, Keratitis MIM# 148190, Optic nerve hypoplasia MIM# 165550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2020-05-22T17:06:12.991158+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: VSX2 was added\ngene: VSX2 was added to Cone-rod Dystrophy. Sources: Expert list\nMode of inheritance for gene: VSX2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VSX2 were set to 24001013\nPhenotypes for gene: VSX2 were set to smooth irides; lens subluxation; cone-rod dysfunction; high myopia\nReview for gene: VSX2 was set to RED\nAdded comment: Single consanguineous case reported with cone-rod dysfunction as a feature of a retinal phenotype. \nSources: Expert list",
"entity_name": "VSX2",
"entity_type": "gene"
},
{
"created": "2020-05-22T16:56:52.006345+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.37",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: VPS13B as ready",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2020-05-22T16:56:51.997697+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.37",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: vps13b has been classified as Green List (High Evidence).",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2020-05-22T16:56:47.866425+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.37",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: VPS13B as Green List (high evidence)",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2020-05-22T16:56:47.853086+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.37",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: vps13b has been classified as Green List (High Evidence).",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2020-05-22T16:56:36.993000+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.36",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: VPS13B was added\ngene: VPS13B was added to Syndromic Retinopathy. Sources: Expert list\nMode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VPS13B were set to 31580008; 24334764\nPhenotypes for gene: VPS13B were set to Cohen syndrome MIM#216550\nReview for gene: VPS13B was set to GREEN\nAdded comment: Retinopathy is a common feature of the condition. >10 cases reported. \nSources: Expert list",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2020-05-22T16:50:24.226577+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: USP45 as Green List (high evidence)",
"entity_name": "USP45",
"entity_type": "gene"
},
{
"created": "2020-05-22T16:50:24.214332+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: usp45 has been classified as Green List (High Evidence).",
"entity_name": "USP45",
"entity_type": "gene"
},
{
"created": "2020-05-22T16:50:16.050820+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: USP45 was added\ngene: USP45 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: Literature\nMode of inheritance for gene: USP45 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: USP45 were set to 30573563\nPhenotypes for gene: USP45 were set to Lebers congenital amaurosis",
"entity_name": "USP45",
"entity_type": "gene"
},
{
"created": "2020-05-22T16:43:20.657725+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TUBB4B as ready",
"entity_name": "TUBB4B",
"entity_type": "gene"
},
{
"created": "2020-05-22T16:43:20.644789+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tubb4b has been classified as Green List (High Evidence).",
"entity_name": "TUBB4B",
"entity_type": "gene"
},
{
"created": "2020-05-22T16:43:15.762420+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TUBB4B as Green List (high evidence)",
"entity_name": "TUBB4B",
"entity_type": "gene"
},
{
"created": "2020-05-22T16:43:15.753425+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tubb4b has been classified as Green List (High Evidence).",
"entity_name": "TUBB4B",
"entity_type": "gene"
},
{
"created": "2020-05-22T16:43:03.443854+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.33",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TUBB4B was added\ngene: TUBB4B was added to Syndromic Retinopathy. Sources: Expert list\nMode of inheritance for gene: TUBB4B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TUBB4B were set to 29198720\nPhenotypes for gene: TUBB4B were set to Leber congenital amaurosis with early-onset deafness\tMIM#617879\nReview for gene: TUBB4B was set to GREEN\nAdded comment: At least 5 affected individuals from 4 families with Leber congenital amaurosis and early-onset deafness with heterozygosity for 2 missense (R391H, R391C). Functional analysis demonstrated that the mutations have a significant dampening impact on microtubular growth. \nSources: Expert list",
"entity_name": "TUBB4B",
"entity_type": "gene"
},
{
"created": "2020-05-22T16:35:32.962216+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.63",
"user_name": "Lauren Akesson",
"item_type": "entity",
"text": "reviewed gene: NHEJ1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 17191205; Phenotypes: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation (MIM# 611291); Mode of inheritance: Unknown",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2020-05-22T16:33:28.403772+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.32",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TRAF3IP1 as ready",
"entity_name": "TRAF3IP1",
"entity_type": "gene"
},
{
"created": "2020-05-22T16:33:28.395108+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.32",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: traf3ip1 has been classified as Green List (High Evidence).",
"entity_name": "TRAF3IP1",
"entity_type": "gene"
},
{
"created": "2020-05-22T16:33:18.853601+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.32",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TRAF3IP1 as Green List (high evidence)",
"entity_name": "TRAF3IP1",
"entity_type": "gene"
},
{
"created": "2020-05-22T16:33:18.841616+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.32",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: traf3ip1 has been classified as Green List (High Evidence).",
"entity_name": "TRAF3IP1",
"entity_type": "gene"
},
{
"created": "2020-05-22T16:33:06.043879+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.31",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TRAF3IP1 was added\ngene: TRAF3IP1 was added to Syndromic Retinopathy. Sources: Expert list\nMode of inheritance for gene: TRAF3IP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRAF3IP1 were set to 26487268\nPhenotypes for gene: TRAF3IP1 were set to Senior-Loken syndrome 9 MIM#616629\nReview for gene: TRAF3IP1 was set to GREEN\nAdded comment: At least 5 families reported with retinal degeneration as a feature of the condition and a zebrafish model with retinal degeneration. \nSources: Expert list",
"entity_name": "TRAF3IP1",
"entity_type": "gene"
},
{
"created": "2020-05-22T16:28:42.475076+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.54",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TMEM98 as ready",
"entity_name": "TMEM98",
"entity_type": "gene"
},
{
"created": "2020-05-22T16:28:42.466486+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.54",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tmem98 has been classified as Green List (High Evidence).",
"entity_name": "TMEM98",
"entity_type": "gene"
},
{
"created": "2020-05-22T16:27:09.489755+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.54",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TMEM98 as Green List (high evidence)",
"entity_name": "TMEM98",
"entity_type": "gene"
},
{
"created": "2020-05-22T16:27:09.481192+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.54",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tmem98 has been classified as Green List (High Evidence).",
"entity_name": "TMEM98",
"entity_type": "gene"
},
{
"created": "2020-05-22T16:26:03.243887+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TMEM98 was added\ngene: TMEM98 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Expert list\nMode of inheritance for gene: TMEM98 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TMEM98 were set to 24852644; 26392740\nPhenotypes for gene: TMEM98 were set to Nanophthalmos 4 MIM#615972\nReview for gene: TMEM98 was set to GREEN\nAdded comment: At least three large multi-generational unrelated families reported to segregate heterozygous variants. Nanophthalmos is a rare form of microphthalmia. \nSources: Expert list",
"entity_name": "TMEM98",
"entity_type": "gene"
},
{
"created": "2020-05-22T16:14:24.369784+10:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TEAD1 as Amber List (moderate evidence)",
"entity_name": "TEAD1",
"entity_type": "gene"
},
{
"created": "2020-05-22T16:14:24.360486+10:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tead1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TEAD1",
"entity_type": "gene"
},
{
"created": "2020-05-22T16:14:10.815064+10:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TEAD1 was added\ngene: TEAD1 was added to Macular Dystrophy/Stargardt Disease. Sources: Expert list\nMode of inheritance for gene: TEAD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TEAD1 were set to 15016762; 17689488; 30903741; 26091538\nPhenotypes for gene: TEAD1 were set to Sveinsson chorioretinal atrophy MIM#108985\nReview for gene: TEAD1 was set to AMBER\nAdded comment: Heterozygous missense variant identified in a large Icelandic pedigree and some supporting functional assays. Same missense reported in another family with a clinical diagnosis of circumpapillary dysgenesis of the pigment epithelium (described as a form of macular degeneration). A de novo nonsense variant has also been reported in a case with Aicardi syndrome with infantile spasms, agenesis of the corpus callosum, and chorioretinal lacunae. \nSources: Expert list",
"entity_name": "TEAD1",
"entity_type": "gene"
},
{
"created": "2020-05-22T16:09:33.308389+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.39",
"user_name": "Lauren Akesson",
"item_type": "entity",
"text": "reviewed gene: LAMA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20207543, 18406646; Phenotypes: LAMA2-related muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2020-05-22T15:52:18.195671+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2861",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 23059812, 17056636; Phenotypes: Arteriovenous malformation of the brain, somatic 108010, Bladder cancer, somatic 109800, Breast cancer, somatic 114480, Cardiofaciocutaneous syndrome 2 615278, Gastric cancer, somatic 137215, Leukemia, acute myeloid 601626, . Lung cancer, somatic 211980, Noonan syndrome 3 609942, Pancreatic carcinoma, somatic 260350, RAS-associated autoimmune leukoproliferative disorder 614470, Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic 163200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2020-05-22T15:05:21.827454+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SLC6A6 as Amber List (moderate evidence)",
"entity_name": "SLC6A6",
"entity_type": "gene"
},
{
"created": "2020-05-22T15:05:21.813835+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: slc6a6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC6A6",
"entity_type": "gene"
},
{
"created": "2020-05-22T15:05:12.250521+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC6A6 was added\ngene: SLC6A6 was added to Cone-rod Dystrophy. Sources: Literature\nMode of inheritance for gene: SLC6A6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC6A6 were set to 31345061; 31903486; 29886034\nPhenotypes for gene: SLC6A6 were set to Cone-rod retinopathy; cardiomyopathy",
"entity_name": "SLC6A6",
"entity_type": "gene"
},
{
"created": "2020-05-22T14:54:08.246593+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2861",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: GAA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease II 232300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2020-05-22T14:51:58.604685+10:00",
"panel_name": "Foveal Hypoplasia",
"panel_id": 3150,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: None; Publications: 15629294, 9931324, 31861090; Phenotypes: Foveal hypoplasia 1 MIM#136520; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2020-05-22T14:51:47.901136+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2861",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: HEXA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31388111; Phenotypes: [Hex A pseudodeficiency] 272800, GM2-gangliosidosis, several forms 272800, Tay-Sachs disease 272800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2020-05-22T14:49:34.069389+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2861",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: DHX30: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29100085; Phenotypes: Neurodevelopmental disorder with severe motor impairment and absent language, 617804; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "DHX30",
"entity_type": "gene"
},
{
"created": "2020-05-22T14:49:31.451741+10:00",
"panel_name": "Foveal Hypoplasia",
"panel_id": 3150,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PAX6 as Green List (high evidence)",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2020-05-22T14:49:31.439730+10:00",
"panel_name": "Foveal Hypoplasia",
"panel_id": 3150,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pax6 has been classified as Green List (High Evidence).",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2020-05-22T14:49:23.229852+10:00",
"panel_name": "Foveal Hypoplasia",
"panel_id": 3150,
"panel_version": "0.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PAX6 was added\ngene: PAX6 was added to Foveal Hypoplasia. Sources: Expert list\nMode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PAX6 were set to Foveal hypoplasia 1 MIM#136520",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2020-05-22T14:42:54.720924+10:00",
"panel_name": "Foveal Hypoplasia",
"panel_id": 3150,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SLC38A8 as Green List (high evidence)",
"entity_name": "SLC38A8",
"entity_type": "gene"
},
{
"created": "2020-05-22T14:42:54.711716+10:00",
"panel_name": "Foveal Hypoplasia",
"panel_id": 3150,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: slc38a8 has been classified as Green List (High Evidence).",
"entity_name": "SLC38A8",
"entity_type": "gene"
},
{
"created": "2020-05-22T14:42:30.542798+10:00",
"panel_name": "Retinal Disorders",
"panel_id": 3124,
"panel_version": "0.70",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Changed child panels to: Autosomal Recessive/X-Linked Retinitis Pigmentosa; Syndromic Retinopathy; Macular Dystrophy/Stargardt Disease; Achromatopsia; Autosomal Dominant Retinitis Pigmentosa; Cone-rod Dystrophy; Usher Syndrome; Vitreoretinopathy; Stickler Syndrome; Congenital Stationary Night Blindness; Foveal Hypoplasia",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-05-22T14:41:17.122176+10:00",
"panel_name": "Foveal Hypoplasia",
"panel_id": 3150,
"panel_version": "0.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC38A8 was added\ngene: SLC38A8 was added to Foveal Hypoplasia. Sources: Expert list\nMode of inheritance for gene: SLC38A8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC38A8 were set to 24045842; 24290379\nPhenotypes for gene: SLC38A8 were set to Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis MIM#609218\nReview for gene: SLC38A8 was set to GREEN\nAdded comment: At least 10 families reported with foveal hypoplasia as the main feature of the condition. \nSources: Expert list",
"entity_name": "SLC38A8",
"entity_type": "gene"
},
{
"created": "2020-05-22T14:37:54.485876+10:00",
"panel_name": "Foveal Hypoplasia",
"panel_id": 3150,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added Panel Foveal Hypoplasia\nSet panel types to: Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-05-22T13:37:15.373315+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2861",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "changed review comment from: - 5 consanguineous families with homozygous frameshift mutations in FAN1\r\n- FAN1 KO mice had microphthalmia, with fully penetrant coloboma which was not observed in heterozygous mice\r\n- in human retinal pigment epithelium (RPE) cells, FAN1 knockdown resulted in compromised early cell-cell junction integrity and filament organisation; to: - 5 consanguineous families with homozygous frameshift mutations in FAN1\r\n- FAN1 KO mice had microphthalmia, with fully penetrant coloboma which was not observed in heterozygous mice\r\n- in human retinal pigment epithelium (RPE) cells, FAN1 knockdown resulted in compromised early cell-cell junction integrity and filament organisation",
"entity_name": "FAT1",
"entity_type": "gene"
},
{
"created": "2020-05-22T13:36:41.958949+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.109",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: FAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26905694; Phenotypes: SRNS, tubular ectasia, haematuria, facultative neurological involvement; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FAT1",
"entity_type": "gene"
},
{
"created": "2020-05-22T13:35:57.910088+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: RIMS1 as ready",
"entity_name": "RIMS1",
"entity_type": "gene"
},
{
"created": "2020-05-22T13:35:57.901514+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rims1 has been classified as Red List (Low Evidence).",
"entity_name": "RIMS1",
"entity_type": "gene"
},
{
"created": "2020-05-22T13:35:49.477520+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RIMS1 as Red List (low evidence)",
"entity_name": "RIMS1",
"entity_type": "gene"
},
{
"created": "2020-05-22T13:35:49.468704+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rims1 has been classified as Red List (Low Evidence).",
"entity_name": "RIMS1",
"entity_type": "gene"
},
{
"created": "2020-05-22T13:34:52.613220+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2861",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PITPNM3 as ready",
"entity_name": "PITPNM3",
"entity_type": "gene"
},
{
"created": "2020-05-22T13:34:52.603593+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2861",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pitpnm3 has been classified as Red List (Low Evidence).",
"entity_name": "PITPNM3",
"entity_type": "gene"
},
{
"created": "2020-05-22T13:33:15.251524+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2861",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PITPNM3 as Red List (low evidence)",
"entity_name": "PITPNM3",
"entity_type": "gene"
},
{
"created": "2020-05-22T13:33:15.237932+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2861",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pitpnm3 has been classified as Red List (Low Evidence).",
"entity_name": "PITPNM3",
"entity_type": "gene"
},
{
"created": "2020-05-22T13:32:52.976498+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2860",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: PITPNM3: Rating: RED; Mode of pathogenicity: None; Publications: 17377520, 22405330, 20590364; Phenotypes: Cone-rod dystrophy 5 MIM#600977; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PITPNM3",
"entity_type": "gene"
},
{
"created": "2020-05-22T13:27:58.719885+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PITPNM3 as Red List (low evidence)",
"entity_name": "PITPNM3",
"entity_type": "gene"
},
{
"created": "2020-05-22T13:27:58.713658+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: No convincing evidence and no recent reports",
"entity_name": "PITPNM3",
"entity_type": "gene"
},
{
"created": "2020-05-22T13:27:58.684225+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pitpnm3 has been classified as Red List (Low Evidence).",
"entity_name": "PITPNM3",
"entity_type": "gene"
},
{
"created": "2020-05-22T13:27:28.178232+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: PITPNM3: Changed publications: 17377520, 22405330, 20590364",
"entity_name": "PITPNM3",
"entity_type": "gene"
},
{
"created": "2020-05-22T13:27:16.533601+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: Only a single missense (p.Gln626His) identified in 2 Swedish families. Macular atrophy is feature of the cone-rod dystrophy in these families. The allele frequency of this variant in the European (non-finnish) population is 0.3%, which is common for a dominant rare disease. No functional assays have been conducted.; to: Single missense (p.Gln626His) identified in 2 Swedish families and two British macular dystrophy cases. The allele frequency of this variant in the European (non-finnish) population is 0.3%, which is common for a dominant rare disease. Three other variants reported in isolated cases. No functional assays have been conducted.",
"entity_name": "PITPNM3",
"entity_type": "gene"
},
{
"created": "2020-05-22T13:09:57.780449+10:00",
"panel_name": "Achromatopsia",
"panel_id": 3149,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: RGS9BP as ready",
"entity_name": "RGS9BP",
"entity_type": "gene"
},
{
"created": "2020-05-22T13:09:57.767473+10:00",
"panel_name": "Achromatopsia",
"panel_id": 3149,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rgs9bp has been classified as Green List (High Evidence).",
"entity_name": "RGS9BP",
"entity_type": "gene"
},
{
"created": "2020-05-22T13:09:51.140913+10:00",
"panel_name": "Achromatopsia",
"panel_id": 3149,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RGS9BP as Green List (high evidence)",
"entity_name": "RGS9BP",
"entity_type": "gene"
},
{
"created": "2020-05-22T13:09:51.129412+10:00",
"panel_name": "Achromatopsia",
"panel_id": 3149,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rgs9bp has been classified as Green List (High Evidence).",
"entity_name": "RGS9BP",
"entity_type": "gene"
},
{
"created": "2020-05-22T13:09:42.319316+10:00",
"panel_name": "Achromatopsia",
"panel_id": 3149,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RGS9BP was added\ngene: RGS9BP was added to Achromatopsia. Sources: Expert list\nMode of inheritance for gene: RGS9BP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RGS9BP were set to 14702087; 19818506\nPhenotypes for gene: RGS9BP were set to Bradyopsia MIM#608415\nReview for gene: RGS9BP was set to GREEN\nAdded comment: At least 3 families reported with homozygous variants \nSources: Expert list",
"entity_name": "RGS9BP",
"entity_type": "gene"
},
{
"created": "2020-05-22T13:04:30.242216+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2860",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: FAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30862798; Phenotypes: facial dysmorphism, colobomatous microphthalmia, ptosis, syndactyly with or without nephropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FAT1",
"entity_type": "gene"
},
{
"created": "2020-05-22T13:03:43.458021+10:00",
"panel_name": "Achromatopsia",
"panel_id": 3149,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: RGS9 as ready",
"entity_name": "RGS9",
"entity_type": "gene"
},
{
"created": "2020-05-22T13:03:43.445716+10:00",
"panel_name": "Achromatopsia",
"panel_id": 3149,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rgs9 has been classified as Green List (High Evidence).",
"entity_name": "RGS9",
"entity_type": "gene"
},
{
"created": "2020-05-22T13:03:40.404574+10:00",
"panel_name": "Achromatopsia",
"panel_id": 3149,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RGS9 as Green List (high evidence)",
"entity_name": "RGS9",
"entity_type": "gene"
},
{
"created": "2020-05-22T13:03:40.394487+10:00",
"panel_name": "Achromatopsia",
"panel_id": 3149,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rgs9 has been classified as Green List (High Evidence).",
"entity_name": "RGS9",
"entity_type": "gene"
},
{
"created": "2020-05-22T13:03:30.412056+10:00",
"panel_name": "Achromatopsia",
"panel_id": 3149,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RGS9 was added\ngene: RGS9 was added to Achromatopsia. Sources: Expert list\nMode of inheritance for gene: RGS9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RGS9 were set to 14702087; 10676965; 29107794\nPhenotypes for gene: RGS9 were set to Bradyopsia MIM#608415\nReview for gene: RGS9 was set to GREEN\nAdded comment: At least 7 families reported with homozygous variants and a supporting null mouse model. \nSources: Expert list",
"entity_name": "RGS9",
"entity_type": "gene"
},
{
"created": "2020-05-22T12:50:51.735988+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.33",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: RCBTB1 as ready",
"entity_name": "RCBTB1",
"entity_type": "gene"
},
{
"created": "2020-05-22T12:50:51.722451+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.33",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rcbtb1 has been classified as Green List (High Evidence).",
"entity_name": "RCBTB1",
"entity_type": "gene"
},
{
"created": "2020-05-22T12:50:48.379056+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.33",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RCBTB1 as Green List (high evidence)",
"entity_name": "RCBTB1",
"entity_type": "gene"
},
{
"created": "2020-05-22T12:50:48.366701+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.33",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rcbtb1 has been classified as Green List (High Evidence).",
"entity_name": "RCBTB1",
"entity_type": "gene"
},
{
"created": "2020-05-22T12:50:36.401423+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.32",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RCBTB1 was added\ngene: RCBTB1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: Expert list\nMode of inheritance for gene: RCBTB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RCBTB1 were set to 27486781\nPhenotypes for gene: RCBTB1 were set to Retinal dystrophy with or without extraocular anomalies MIM#617175\nReview for gene: RCBTB1 was set to GREEN\nAdded comment: Six families with retinal dystrophy with or without extraocular anomalies with homozygous missense variants. Ocular phenotypes ranged from typical RP starting in the second decade to chorioretinal dystrophy with a later age of onset. \nSources: Expert list",
"entity_name": "RCBTB1",
"entity_type": "gene"
},
{
"created": "2020-05-22T11:50:24.484299+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.52",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RBP4 as Green List (high evidence)",
"entity_name": "RBP4",
"entity_type": "gene"
}
]
}