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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1793",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1791",
"results": [
{
"created": "2020-05-22T11:50:24.473189+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.52",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rbp4 has been classified as Green List (High Evidence).",
"entity_name": "RBP4",
"entity_type": "gene"
},
{
"created": "2020-05-22T11:49:51.026084+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.51",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RBP4 was added\ngene: RBP4 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature\nMode of inheritance for gene: RBP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RBP4 were set to 25910211; 29178648\nPhenotypes for gene: RBP4 were set to Microphthalmia, isolated, with coloboma 10\tMIM#616428\nReview for gene: RBP4 was set to GREEN\nAdded comment: At least 3 unrelated microphthalmia, anophthalmia and coloboma families and supporting functional assays. Study established an uncharacterized mode of maternal inheritance, distinct from imprinting and oocyte-derived mRNA. \nSources: Literature",
"entity_name": "RBP4",
"entity_type": "gene"
},
{
"created": "2020-05-22T11:41:26.844258+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.31",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: RBP4 as ready",
"entity_name": "RBP4",
"entity_type": "gene"
},
{
"created": "2020-05-22T11:41:26.832041+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.31",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rbp4 has been classified as Green List (High Evidence).",
"entity_name": "RBP4",
"entity_type": "gene"
},
{
"created": "2020-05-22T11:41:23.915548+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.31",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RBP4 as Green List (high evidence)",
"entity_name": "RBP4",
"entity_type": "gene"
},
{
"created": "2020-05-22T11:41:23.904471+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.31",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rbp4 has been classified as Green List (High Evidence).",
"entity_name": "RBP4",
"entity_type": "gene"
},
{
"created": "2020-05-22T11:41:15.504989+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RBP4 was added\ngene: RBP4 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: Expert list\nMode of inheritance for gene: RBP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RBP4 were set to 23189188; 9888420; 32323592\nPhenotypes for gene: RBP4 were set to Retinal dystrophy, iris coloboma, and comedogenic acne syndrome MIM#615147\nReview for gene: RBP4 was set to GREEN\nAdded comment: At least three families reported with arRP \nSources: Expert list",
"entity_name": "RBP4",
"entity_type": "gene"
},
{
"created": "2020-05-22T10:52:10.088236+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: OPN1SW as Green List (high evidence)",
"entity_name": "OPN1SW",
"entity_type": "gene"
},
{
"created": "2020-05-22T10:52:10.077283+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: opn1sw has been classified as Green List (High Evidence).",
"entity_name": "OPN1SW",
"entity_type": "gene"
},
{
"created": "2020-05-22T10:52:01.647970+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: OPN1SW was added\ngene: OPN1SW was added to Cone-rod Dystrophy. Sources: Expert list\nMode of inheritance for gene: OPN1SW was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: OPN1SW were set to 22065927; 1531728\nPhenotypes for gene: OPN1SW were set to Colorblindness, tritan MIM#190900\nReview for gene: OPN1SW was set to GREEN\nAdded comment: Has been included on this panel, so that it is with the other cone-specific colour blindness genes. At least 6 missense variants associated with tritanopia. \nSources: Expert list",
"entity_name": "OPN1SW",
"entity_type": "gene"
},
{
"created": "2020-05-22T10:22:21.245819+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: NMNAT1 as ready",
"entity_name": "NMNAT1",
"entity_type": "gene"
},
{
"created": "2020-05-22T10:22:21.233457+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nmnat1 has been classified as Green List (High Evidence).",
"entity_name": "NMNAT1",
"entity_type": "gene"
},
{
"created": "2020-05-22T10:22:18.874747+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NMNAT1 as Green List (high evidence)",
"entity_name": "NMNAT1",
"entity_type": "gene"
},
{
"created": "2020-05-22T10:22:18.865927+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nmnat1 has been classified as Green List (High Evidence).",
"entity_name": "NMNAT1",
"entity_type": "gene"
},
{
"created": "2020-05-22T10:22:08.688913+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NMNAT1 was added\ngene: NMNAT1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: Expert list\nMode of inheritance for gene: NMNAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NMNAT1 were set to 22842230; 17132048\nPhenotypes for gene: NMNAT1 were set to Leber congenital amaurosis 9\tMIM#608553\nReview for gene: NMNAT1 was set to GREEN\nAdded comment: At least 8 families with biallelic variants and a supporting drosophila model with retinal degeneration. \nSources: Expert list",
"entity_name": "NMNAT1",
"entity_type": "gene"
},
{
"created": "2020-05-22T10:09:44.086199+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: JARID2 as ready",
"entity_name": "JARID2",
"entity_type": "gene"
},
{
"created": "2020-05-22T10:09:44.076525+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jarid2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "JARID2",
"entity_type": "gene"
},
{
"created": "2020-05-22T10:09:35.456810+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: JARID2 as Amber List (moderate evidence)",
"entity_name": "JARID2",
"entity_type": "gene"
},
{
"created": "2020-05-22T10:09:35.446176+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jarid2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "JARID2",
"entity_type": "gene"
},
{
"created": "2020-05-22T10:09:16.659739+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2859",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: JARID2 was added\ngene: JARID2 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: JARID2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: JARID2 were set to 23294540\nPhenotypes for gene: JARID2 were set to Intellectual disability\nReview for gene: JARID2 was set to AMBER\nAdded comment: Emerging evidence that haploinsufficiency causes neurodevelopmental phenotypes, mostly based on CNV data to date. \nSources: Expert Review",
"entity_name": "JARID2",
"entity_type": "gene"
},
{
"created": "2020-05-22T10:07:21.570950+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: JARID2 as ready",
"entity_name": "JARID2",
"entity_type": "gene"
},
{
"created": "2020-05-22T10:07:21.555338+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jarid2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "JARID2",
"entity_type": "gene"
},
{
"created": "2020-05-22T10:07:14.985185+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: JARID2 as Amber List (moderate evidence)",
"entity_name": "JARID2",
"entity_type": "gene"
},
{
"created": "2020-05-22T10:07:14.974286+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jarid2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "JARID2",
"entity_type": "gene"
},
{
"created": "2020-05-22T10:06:42.291853+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2645",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: JARID2 was added\ngene: JARID2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review\nMode of inheritance for gene: JARID2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: JARID2 were set to 23294540\nPhenotypes for gene: JARID2 were set to Intellectual disability\nReview for gene: JARID2 was set to AMBER\nAdded comment: Emerging evidence, mostly based on CNV data to date. \nSources: Expert Review",
"entity_name": "JARID2",
"entity_type": "gene"
},
{
"created": "2020-05-22T10:04:52.399343+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ITM2B as Green List (high evidence)",
"entity_name": "ITM2B",
"entity_type": "gene"
},
{
"created": "2020-05-22T10:04:52.387168+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: itm2b has been classified as Green List (High Evidence).",
"entity_name": "ITM2B",
"entity_type": "gene"
},
{
"created": "2020-05-22T10:04:18.968109+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ITM2B was added\ngene: ITM2B was added to Incidentalome. Sources: Expert list\nMode of inheritance for gene: ITM2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ITM2B were set to Dementia, familial British MIM#176500; Dementia, familial Danish\tMIM#117300",
"entity_name": "ITM2B",
"entity_type": "gene"
},
{
"created": "2020-05-22T10:02:06.507127+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2858",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:ITM2B from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-05-22T09:59:51.658141+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MSTO1 as ready",
"entity_name": "MSTO1",
"entity_type": "gene"
},
{
"created": "2020-05-22T09:59:51.648706+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: msto1 has been classified as Green List (High Evidence).",
"entity_name": "MSTO1",
"entity_type": "gene"
},
{
"created": "2020-05-22T09:59:47.962565+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MSTO1 as Green List (high evidence)",
"entity_name": "MSTO1",
"entity_type": "gene"
},
{
"created": "2020-05-22T09:59:47.951565+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: msto1 has been classified as Green List (High Evidence).",
"entity_name": "MSTO1",
"entity_type": "gene"
},
{
"created": "2020-05-22T09:59:38.948484+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MSTO1 was added\ngene: MSTO1 was added to Syndromic Retinopathy. Sources: Expert list\nMode of inheritance for gene: MSTO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MSTO1 were set to 29339779; 28544275\nPhenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia MIM#617675\nReview for gene: MSTO1 was set to GREEN\nAdded comment: Pigmentary retinopathy reported as a feature of the condition in at least 3 unrelated cases with biallelic variants. \nSources: Expert list",
"entity_name": "MSTO1",
"entity_type": "gene"
},
{
"created": "2020-05-22T09:43:57.689003+10:00",
"panel_name": "Congenital Stationary Night Blindness",
"panel_id": 283,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ITM2B as ready",
"entity_name": "ITM2B",
"entity_type": "gene"
},
{
"created": "2020-05-22T09:43:57.680495+10:00",
"panel_name": "Congenital Stationary Night Blindness",
"panel_id": 283,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: itm2b has been classified as Red List (Low Evidence).",
"entity_name": "ITM2B",
"entity_type": "gene"
},
{
"created": "2020-05-22T09:43:46.032627+10:00",
"panel_name": "Congenital Stationary Night Blindness",
"panel_id": 283,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ITM2B was added\ngene: ITM2B was added to Congenital Stationary Night Blindness. Sources: Expert list\nMode of inheritance for gene: ITM2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ITM2B were set to 24026677\nPhenotypes for gene: ITM2B were set to ?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities MIM#616079\nReview for gene: ITM2B was set to RED\nAdded comment: Single family reported with an unusual retinal dystrophy phenotype (most similar to CSNB), segregating a heterozygous missense variant. Minimal functional evidence assessing protein expression and localisation in different tissues. \nSources: Expert list",
"entity_name": "ITM2B",
"entity_type": "gene"
},
{
"created": "2020-05-22T09:15:10.643101+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: HACE1 as ready",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2020-05-22T09:15:10.630252+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hace1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2020-05-22T09:15:05.807904+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HACE1 as Amber List (moderate evidence)",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2020-05-22T09:15:05.795289+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hace1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2020-05-22T09:14:55.809728+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HACE1 was added\ngene: HACE1 was added to Syndromic Retinopathy. Sources: Expert list\nMode of inheritance for gene: HACE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HACE1 were set to 26424145\nPhenotypes for gene: HACE1 were set to Spastic paraplegia and psychomotor retardation with or without seizures MIM#616756\nReview for gene: HACE1 was set to AMBER\nAdded comment: Retinal dystrophy reported as a feature of the condition in two families. \nSources: Expert list",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2020-05-22T09:08:33.202818+10:00",
"panel_name": "Achromatopsia",
"panel_id": 3149,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GNAT2 as ready",
"entity_name": "GNAT2",
"entity_type": "gene"
},
{
"created": "2020-05-22T09:08:33.193320+10:00",
"panel_name": "Achromatopsia",
"panel_id": 3149,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gnat2 has been classified as Green List (High Evidence).",
"entity_name": "GNAT2",
"entity_type": "gene"
},
{
"created": "2020-05-22T09:08:28.701501+10:00",
"panel_name": "Achromatopsia",
"panel_id": 3149,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GNAT2 as Green List (high evidence)",
"entity_name": "GNAT2",
"entity_type": "gene"
},
{
"created": "2020-05-22T09:08:28.688034+10:00",
"panel_name": "Achromatopsia",
"panel_id": 3149,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gnat2 has been classified as Green List (High Evidence).",
"entity_name": "GNAT2",
"entity_type": "gene"
},
{
"created": "2020-05-22T09:08:18.861837+10:00",
"panel_name": "Achromatopsia",
"panel_id": 3149,
"panel_version": "0.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GNAT2 was added\ngene: GNAT2 was added to Achromatopsia. Sources: Expert list\nMode of inheritance for gene: GNAT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GNAT2 were set to 32203983; 17251445\nPhenotypes for gene: GNAT2 were set to Achromatopsia 4 MIM#613856\nReview for gene: GNAT2 was set to GREEN\nAdded comment: Nine cases from four unrelated consanguineous families and a supporting zebrafish model. \nSources: Expert list",
"entity_name": "GNAT2",
"entity_type": "gene"
},
{
"created": "2020-05-22T08:59:53.202456+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GDF6 as ready",
"entity_name": "GDF6",
"entity_type": "gene"
},
{
"created": "2020-05-22T08:59:53.193099+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gdf6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GDF6",
"entity_type": "gene"
},
{
"created": "2020-05-22T08:59:47.817917+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GDF6 as Amber List (moderate evidence)",
"entity_name": "GDF6",
"entity_type": "gene"
},
{
"created": "2020-05-22T08:59:47.804035+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gdf6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GDF6",
"entity_type": "gene"
},
{
"created": "2020-05-22T08:59:33.921771+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GDF6 was added\ngene: GDF6 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: Expert list\nMode of inheritance for gene: GDF6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GDF6 were set to 23307924\nPhenotypes for gene: GDF6 were set to Leber congenital amaurosis 17 MIM#615360\nReview for gene: GDF6 was set to AMBER\nAdded comment: One compound heterozygote and three cases with a single heterozygous variant where unaffected parent carrier status and allele frequency of variants in gnomAD suggest presence of a second unidentified allele. Supporting in vitro functional assays and retinal apoptosis is observed in both murine and zebrafish mutant models, a characteristic feature of human retinal dystrophies. \nSources: Expert list",
"entity_name": "GDF6",
"entity_type": "gene"
},
{
"created": "2020-05-21T20:57:00.312196+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADIPOR1 as ready",
"entity_name": "ADIPOR1",
"entity_type": "gene"
},
{
"created": "2020-05-21T20:57:00.301471+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adipor1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADIPOR1",
"entity_type": "gene"
},
{
"created": "2020-05-21T20:56:57.115802+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADIPOR1 were set to ",
"entity_name": "ADIPOR1",
"entity_type": "gene"
},
{
"created": "2020-05-21T20:56:45.690185+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADIPOR1 as Amber List (moderate evidence)",
"entity_name": "ADIPOR1",
"entity_type": "gene"
},
{
"created": "2020-05-21T20:56:45.677084+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adipor1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADIPOR1",
"entity_type": "gene"
},
{
"created": "2020-05-21T20:56:34.421425+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Not syndromic.; to: ID and obesity in addition to RP reported with bi-allelic disease.",
"entity_name": "ADIPOR1",
"entity_type": "gene"
},
{
"created": "2020-05-21T20:56:04.637434+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ADIPOR1: Changed rating: AMBER",
"entity_name": "ADIPOR1",
"entity_type": "gene"
},
{
"created": "2020-05-21T20:55:05.632133+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADIPOR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ADIPOR1",
"entity_type": "gene"
},
{
"created": "2020-05-21T20:54:32.764971+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2857",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADIPOR1 as ready",
"entity_name": "ADIPOR1",
"entity_type": "gene"
},
{
"created": "2020-05-21T20:54:32.748374+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2857",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adipor1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADIPOR1",
"entity_type": "gene"
},
{
"created": "2020-05-21T20:54:24.567052+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2857",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADIPOR1 were changed from to Retinitis pigmentosa",
"entity_name": "ADIPOR1",
"entity_type": "gene"
},
{
"created": "2020-05-21T20:54:04.045654+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADIPOR1 were set to ",
"entity_name": "ADIPOR1",
"entity_type": "gene"
},
{
"created": "2020-05-21T20:53:42.775526+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2855",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADIPOR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ADIPOR1",
"entity_type": "gene"
},
{
"created": "2020-05-21T20:53:23.151030+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADIPOR1 as Amber List (moderate evidence)",
"entity_name": "ADIPOR1",
"entity_type": "gene"
},
{
"created": "2020-05-21T20:53:23.140121+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adipor1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADIPOR1",
"entity_type": "gene"
},
{
"created": "2020-05-21T20:53:05.516855+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADIPOR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27655171, 26662040; Phenotypes: Retinitis pigmentosa; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ADIPOR1",
"entity_type": "gene"
},
{
"created": "2020-05-21T20:45:24.020012+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: TRIP12: At least 10 unrelated patients reported with ID with or without autism (PMIDs: 27848077, 28251352).",
"entity_name": "TRIP12",
"entity_type": "gene"
},
{
"created": "2020-05-21T20:45:00.080223+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIP12 as ready",
"entity_name": "TRIP12",
"entity_type": "gene"
},
{
"created": "2020-05-21T20:45:00.070783+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trip12 has been classified as Green List (High Evidence).",
"entity_name": "TRIP12",
"entity_type": "gene"
},
{
"created": "2020-05-21T20:44:55.980774+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRIP12 were changed from to Mental retardation autosomal dominant 49, Clark-Baraitser Syndrome, MIM#617752",
"entity_name": "TRIP12",
"entity_type": "gene"
},
{
"created": "2020-05-21T20:42:35.476085+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRIP12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRIP12",
"entity_type": "gene"
},
{
"created": "2020-05-21T20:41:49.457067+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRIP12: Rating: GREEN; Mode of pathogenicity: None; Publications: 27848077, 28251352; Phenotypes: Mental retardation autosomal dominant 49, Clark-Baraitser Syndrome, MIM#617752; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRIP12",
"entity_type": "gene"
},
{
"created": "2020-05-21T20:40:51.783723+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIP12 as ready",
"entity_name": "TRIP12",
"entity_type": "gene"
},
{
"created": "2020-05-21T20:40:51.772659+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trip12 has been classified as Green List (High Evidence).",
"entity_name": "TRIP12",
"entity_type": "gene"
},
{
"created": "2020-05-21T20:40:42.664539+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRIP12 were changed from to Mental retardation autosomal dominant 49, Clark-Baraitser Syndrome, MIM#617752",
"entity_name": "TRIP12",
"entity_type": "gene"
},
{
"created": "2020-05-21T20:40:12.249028+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2852",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRIP12 were set to ",
"entity_name": "TRIP12",
"entity_type": "gene"
},
{
"created": "2020-05-21T20:39:48.656710+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRIP12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRIP12",
"entity_type": "gene"
},
{
"created": "2020-05-21T20:39:28.186774+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRIP12: Rating: GREEN; Mode of pathogenicity: None; Publications: 27848077, 28251352; Phenotypes: Mental retardation autosomal dominant 49, Clark-Baraitser Syndrome, MIM#617752; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRIP12",
"entity_type": "gene"
},
{
"created": "2020-05-21T20:39:02.209733+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2644",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIP12 as ready",
"entity_name": "TRIP12",
"entity_type": "gene"
},
{
"created": "2020-05-21T20:39:02.197104+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2644",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trip12 has been classified as Green List (High Evidence).",
"entity_name": "TRIP12",
"entity_type": "gene"
},
{
"created": "2020-05-21T20:38:52.729393+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2644",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRIP12 were changed from to Mental retardation autosomal dominant 49, Clark-Baraitser Syndrome, MIM#617752",
"entity_name": "TRIP12",
"entity_type": "gene"
},
{
"created": "2020-05-21T20:38:31.960946+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRIP12 were set to 27848077; 28251352",
"entity_name": "TRIP12",
"entity_type": "gene"
},
{
"created": "2020-05-21T20:38:09.692134+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRIP12 were set to ",
"entity_name": "TRIP12",
"entity_type": "gene"
},
{
"created": "2020-05-21T20:37:36.441555+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRIP12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRIP12",
"entity_type": "gene"
},
{
"created": "2020-05-21T19:45:08.676615+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2641",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: TRIP12: Rating: GREEN; Mode of pathogenicity: None; Publications: 27848077, 28251352; Phenotypes: Mental retardation autosomal dominant 49, Clark-Baraitser Syndrome, MIM#617752; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "TRIP12",
"entity_type": "gene"
},
{
"created": "2020-05-21T16:36:06.293933+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ERCC8 as ready",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2020-05-21T16:36:06.284975+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ercc8 has been classified as Green List (High Evidence).",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2020-05-21T16:36:02.178367+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ERCC8 as Green List (high evidence)",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2020-05-21T16:36:02.166351+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ercc8 has been classified as Green List (High Evidence).",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2020-05-21T16:35:54.229084+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ERCC8 was added\ngene: ERCC8 was added to Syndromic Retinopathy. Sources: Literature\nMode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERCC8 were set to 26204423\nPhenotypes for gene: ERCC8 were set to Cockayne syndrome, type A MIM#216400\nReview for gene: ERCC8 was set to GREEN\nAdded comment: Retinal dystrophy was reported as a feature of the condition in 43% of cases in a cohort of 108 individuals in 81 families. Genetic confirmation of CS was available in 40 pedigrees: ERCC6 mutations were found in 28 (70%), ERCC8 mutations in 11 (27.5%). \nSources: Literature",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2020-05-21T16:34:09.848615+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ERCC6 as Green List (high evidence)",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2020-05-21T16:34:09.839628+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ercc6 has been classified as Green List (High Evidence).",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2020-05-21T16:33:59.532485+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ERCC6 was added\ngene: ERCC6 was added to Syndromic Retinopathy. Sources: Expert list\nMode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERCC6 were set to 26204423\nPhenotypes for gene: ERCC6 were set to Cockayne syndrome, type B MIM#133540\nReview for gene: ERCC6 was set to GREEN\nAdded comment: Retinal dystrophy was reported as a feature of the condition in 43% of cases in a cohort of 108 individuals in 81 families. Genetic confirmation of CS was available in 40 pedigrees: ERCC6 mutations were found in 28 (70%), ERCC8 mutations in 11 (27.5%). \nSources: Expert list",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2020-05-21T16:14:49.803639+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CX3CR1 as ready",
"entity_name": "CX3CR1",
"entity_type": "gene"
},
{
"created": "2020-05-21T16:14:49.794699+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cx3cr1 has been classified as Red List (Low Evidence).",
"entity_name": "CX3CR1",
"entity_type": "gene"
},
{
"created": "2020-05-21T16:14:41.149908+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CX3CR1 were changed from to Coronary artery disease, resistance to}, MIM# 607339; {Macular degeneration, age-related, 12} 613784; {Rapid progression to AIDS from HIV1 infection} 609423",
"entity_name": "CX3CR1",
"entity_type": "gene"
},
{
"created": "2020-05-21T16:14:18.659176+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2849",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CX3CR1 as Red List (low evidence)",
"entity_name": "CX3CR1",
"entity_type": "gene"
},
{
"created": "2020-05-21T16:14:18.649037+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2849",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cx3cr1 has been classified as Red List (Low Evidence).",
"entity_name": "CX3CR1",
"entity_type": "gene"
}
]
}