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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2076",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2074",
"results": [
{
"created": "2019-12-03T19:22:23.881840+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fras1 has been classified as Green List (High Evidence).",
"entity_name": "FRAS1",
"entity_type": "gene"
},
{
"created": "2019-12-03T19:22:19.087849+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FRAS1 were changed from to Fraser syndrome 1, MIM#219000",
"entity_name": "FRAS1",
"entity_type": "gene"
},
{
"created": "2019-12-03T19:22:08.305107+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FRAS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FRAS1",
"entity_type": "gene"
},
{
"created": "2019-12-03T19:21:55.297816+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FRAS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fraser syndrome 1, MIM#219000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FRAS1",
"entity_type": "gene"
},
{
"created": "2019-12-03T19:19:04.847746+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FLVCR1 as ready",
"entity_name": "FLVCR1",
"entity_type": "gene"
},
{
"created": "2019-12-03T19:19:04.839922+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flvcr1 has been classified as Red List (Low Evidence).",
"entity_name": "FLVCR1",
"entity_type": "gene"
},
{
"created": "2019-12-03T19:19:00.338666+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FLVCR1 were changed from to Ataxia, posterior column, with retinitis pigmentosa, MIM#609033",
"entity_name": "FLVCR1",
"entity_type": "gene"
},
{
"created": "2019-12-03T19:18:49.126346+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FLVCR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FLVCR1",
"entity_type": "gene"
},
{
"created": "2019-12-03T19:18:38.494895+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FLVCR1 as Red List (low evidence)",
"entity_name": "FLVCR1",
"entity_type": "gene"
},
{
"created": "2019-12-03T19:18:38.486266+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flvcr1 has been classified as Red List (Low Evidence).",
"entity_name": "FLVCR1",
"entity_type": "gene"
},
{
"created": "2019-12-03T19:18:24.614277+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FLVCR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ataxia, posterior column, with retinitis pigmentosa, MIM#609033; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FLVCR1",
"entity_type": "gene"
},
{
"created": "2019-12-03T14:56:12.227390+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FLNB as ready",
"entity_name": "FLNB",
"entity_type": "gene"
},
{
"created": "2019-12-03T14:56:12.220173+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flnb has been classified as Red List (Low Evidence).",
"entity_name": "FLNB",
"entity_type": "gene"
},
{
"created": "2019-12-03T14:56:08.367764+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FLNB were changed from to Larsen syndrome, MIM#150250",
"entity_name": "FLNB",
"entity_type": "gene"
},
{
"created": "2019-12-03T14:55:59.478905+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FLNB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FLNB",
"entity_type": "gene"
},
{
"created": "2019-12-03T14:55:49.724401+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FLNB as Red List (low evidence)",
"entity_name": "FLNB",
"entity_type": "gene"
},
{
"created": "2019-12-03T14:55:49.714119+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flnb has been classified as Red List (Low Evidence).",
"entity_name": "FLNB",
"entity_type": "gene"
},
{
"created": "2019-12-03T14:55:28.607614+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FLNB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Larsen syndrome, MIM#150250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FLNB",
"entity_type": "gene"
},
{
"created": "2019-12-03T14:50:30.897339+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGF3 as ready",
"entity_name": "FGF3",
"entity_type": "gene"
},
{
"created": "2019-12-03T14:50:30.889814+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgf3 has been classified as Red List (Low Evidence).",
"entity_name": "FGF3",
"entity_type": "gene"
},
{
"created": "2019-12-03T14:50:18.543634+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FGF3 were changed from to Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM#610706",
"entity_name": "FGF3",
"entity_type": "gene"
},
{
"created": "2019-12-03T14:50:03.790213+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FGF3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FGF3",
"entity_type": "gene"
},
{
"created": "2019-12-03T14:49:54.636108+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FGF3 as Red List (low evidence)",
"entity_name": "FGF3",
"entity_type": "gene"
},
{
"created": "2019-12-03T14:49:54.628988+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgf3 has been classified as Red List (Low Evidence).",
"entity_name": "FGF3",
"entity_type": "gene"
},
{
"created": "2019-12-03T14:49:42.596647+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FGF3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM#610706; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FGF3",
"entity_type": "gene"
},
{
"created": "2019-12-03T14:47:15.198101+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FDFT1 as ready",
"entity_name": "FDFT1",
"entity_type": "gene"
},
{
"created": "2019-12-03T14:47:15.190161+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fdft1 has been classified as Green List (High Evidence).",
"entity_name": "FDFT1",
"entity_type": "gene"
},
{
"created": "2019-12-03T14:32:37.141597+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FDFT1 as Green List (high evidence)",
"entity_name": "FDFT1",
"entity_type": "gene"
},
{
"created": "2019-12-03T14:32:37.132904+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fdft1 has been classified as Green List (High Evidence).",
"entity_name": "FDFT1",
"entity_type": "gene"
},
{
"created": "2019-12-03T14:31:19.481816+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FDFT1 was added\ngene: FDFT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list\nMode of inheritance for gene: FDFT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FDFT1 were set to 29909962\nPhenotypes for gene: FDFT1 were set to Squalene synthase deficiency, MIM#618156\nReview for gene: FDFT1 was set to GREEN\nAdded comment: Three individuals from two unrelated families reported; metabolic disorder with good level of biochemical evidence to support gene-disease association.. \nSources: Expert list",
"entity_name": "FDFT1",
"entity_type": "gene"
},
{
"created": "2019-12-03T14:26:21.723869+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBXO31 as ready",
"entity_name": "FBXO31",
"entity_type": "gene"
},
{
"created": "2019-12-03T14:26:21.716952+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxo31 has been classified as Red List (Low Evidence).",
"entity_name": "FBXO31",
"entity_type": "gene"
},
{
"created": "2019-12-03T14:26:09.505181+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FBXO31 was added\ngene: FBXO31 was added to Mendeliome_VCGS. Sources: Expert list\nMode of inheritance for gene: FBXO31 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FBXO31 were set to 24623383\nPhenotypes for gene: FBXO31 were set to Mental retardation, autosomal recessive 45, MIM#615979\nReview for gene: FBXO31 was set to RED\nAdded comment: Single consanguineous family reported with homozygous truncating variant, limited functional evidence. \nSources: Expert list",
"entity_name": "FBXO31",
"entity_type": "gene"
},
{
"created": "2019-12-03T14:19:10.481836+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBXO31 as ready",
"entity_name": "FBXO31",
"entity_type": "gene"
},
{
"created": "2019-12-03T14:19:10.474589+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxo31 has been classified as Red List (Low Evidence).",
"entity_name": "FBXO31",
"entity_type": "gene"
},
{
"created": "2019-12-03T14:19:05.154004+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FBXO31 were changed from to Mental retardation, autosomal recessive 45, MIM#615979",
"entity_name": "FBXO31",
"entity_type": "gene"
},
{
"created": "2019-12-03T14:18:53.376865+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FBXO31 were set to ",
"entity_name": "FBXO31",
"entity_type": "gene"
},
{
"created": "2019-12-03T14:18:39.552371+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FBXO31 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FBXO31",
"entity_type": "gene"
},
{
"created": "2019-12-03T14:18:32.155166+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FBXO31 as Red List (low evidence)",
"entity_name": "FBXO31",
"entity_type": "gene"
},
{
"created": "2019-12-03T14:18:32.147722+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxo31 has been classified as Red List (Low Evidence).",
"entity_name": "FBXO31",
"entity_type": "gene"
},
{
"created": "2019-12-03T14:18:20.134383+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FBXO31: Rating: RED; Mode of pathogenicity: None; Publications: 24623383; Phenotypes: Mental retardation, autosomal recessive 45, MIM#615979; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FBXO31",
"entity_type": "gene"
},
{
"created": "2019-12-03T07:56:31.186501+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBN1 as ready",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2019-12-03T07:56:31.179026+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbn1 has been classified as Red List (Low Evidence).",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2019-12-03T07:56:26.562760+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FBN1 were changed from to Marfan syndrome, MIM#154700; Geleophysic dysplasia 2, MIM#614185; Weill-Marchesani syndrome 2, dominant, MIM#608328",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2019-12-03T07:56:13.022890+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FBN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2019-12-03T07:56:06.739796+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FBN1 as Red List (low evidence)",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2019-12-03T07:56:06.732246+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbn1 has been classified as Red List (Low Evidence).",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2019-12-03T07:55:45.496958+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FBN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Marfan syndrome, MIM#154700, Geleophysic dysplasia 2, MIM#614185, Weill-Marchesani syndrome 2, dominant, MIM#608328; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2019-12-03T07:51:02.355428+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBLN5 as ready",
"entity_name": "FBLN5",
"entity_type": "gene"
},
{
"created": "2019-12-03T07:51:02.340513+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbln5 has been classified as Red List (Low Evidence).",
"entity_name": "FBLN5",
"entity_type": "gene"
},
{
"created": "2019-12-03T07:50:57.967903+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FBLN5 were changed from to Cutis laxa, autosomal recessive, type IA, MIM#219100",
"entity_name": "FBLN5",
"entity_type": "gene"
},
{
"created": "2019-12-03T07:50:44.138329+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FBLN5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FBLN5",
"entity_type": "gene"
},
{
"created": "2019-12-03T07:50:36.313690+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FBLN5 as Red List (low evidence)",
"entity_name": "FBLN5",
"entity_type": "gene"
},
{
"created": "2019-12-03T07:50:36.306538+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbln5 has been classified as Red List (Low Evidence).",
"entity_name": "FBLN5",
"entity_type": "gene"
},
{
"created": "2019-12-03T07:50:24.464426+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FBLN5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cutis laxa, autosomal recessive, type IA, MIM#219100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FBLN5",
"entity_type": "gene"
},
{
"created": "2019-12-03T06:48:37.317278+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FASTKD2 as ready",
"entity_name": "FASTKD2",
"entity_type": "gene"
},
{
"created": "2019-12-03T06:48:37.309977+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fastkd2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FASTKD2",
"entity_type": "gene"
},
{
"created": "2019-12-03T06:48:31.020392+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FASTKD2 were changed from to Mitochondrial complex IV deficiency, MIM#220110",
"entity_name": "FASTKD2",
"entity_type": "gene"
},
{
"created": "2019-12-03T06:48:19.107054+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FASTKD2 were set to ",
"entity_name": "FASTKD2",
"entity_type": "gene"
},
{
"created": "2019-12-03T06:48:02.639434+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FASTKD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FASTKD2",
"entity_type": "gene"
},
{
"created": "2019-12-03T06:47:49.237745+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FASTKD2 as Amber List (moderate evidence)",
"entity_name": "FASTKD2",
"entity_type": "gene"
},
{
"created": "2019-12-03T06:47:49.230004+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fastkd2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FASTKD2",
"entity_type": "gene"
},
{
"created": "2019-12-03T06:47:32.077961+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FASTKD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 18771761, 28499982; Phenotypes: Mitochondrial complex IV deficiency, MIM#220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FASTKD2",
"entity_type": "gene"
},
{
"created": "2019-12-03T06:39:31.266666+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FARS2 were changed from to Combined oxidative phosphorylation deficiency 14, MIM#614946",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2019-12-03T06:39:17.366007+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FARS2 were set to ",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2019-12-03T06:39:03.262551+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2019-12-03T06:38:48.645793+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22499341, 22833457; Phenotypes: Combined oxidative phosphorylation deficiency 14, MIM#614946; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2019-12-03T06:33:22.122871+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCD2 as ready",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2019-12-03T06:33:22.114807+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancd2 has been classified as Green List (High Evidence).",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2019-12-03T06:33:15.623193+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCD2 were changed from to Fanconi anemia, complementation group D2, MIM#\t227646",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2019-12-03T06:33:03.750653+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FANCD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2019-12-03T06:32:45.273498+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group D2, MIM# 227646; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2019-12-03T06:30:32.246846+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EDNRB as ready",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2019-12-03T06:30:32.239591+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ednrb has been classified as Red List (Low Evidence).",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2019-12-03T06:30:25.128714+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EDNRB were changed from to Waardenburg syndrome, type 4A, MIM#277580",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2019-12-03T06:30:13.333222+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EDNRB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2019-12-03T06:30:00.646129+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EDNRB as Red List (low evidence)",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2019-12-03T06:30:00.637700+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ednrb has been classified as Red List (Low Evidence).",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2019-12-02T20:50:01.843748+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAAH2 as ready",
"entity_name": "FAAH2",
"entity_type": "gene"
},
{
"created": "2019-12-02T20:50:01.835434+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: faah2 has been classified as Red List (Low Evidence).",
"entity_name": "FAAH2",
"entity_type": "gene"
},
{
"created": "2019-12-02T20:49:55.732188+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FAAH2 were changed from to Neuropsychiatric disorder",
"entity_name": "FAAH2",
"entity_type": "gene"
},
{
"created": "2019-12-02T20:49:45.309933+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FAAH2 were set to ",
"entity_name": "FAAH2",
"entity_type": "gene"
},
{
"created": "2019-12-02T20:49:33.333201+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FAAH2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FAAH2",
"entity_type": "gene"
},
{
"created": "2019-12-02T20:49:25.690031+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FAAH2 as Red List (low evidence)",
"entity_name": "FAAH2",
"entity_type": "gene"
},
{
"created": "2019-12-02T20:49:25.680742+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: faah2 has been classified as Red List (Low Evidence).",
"entity_name": "FAAH2",
"entity_type": "gene"
},
{
"created": "2019-12-02T20:49:13.121224+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FAAH2: Rating: RED; Mode of pathogenicity: None; Publications: 25885783; Phenotypes: Neuropsychiatric disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FAAH2",
"entity_type": "gene"
},
{
"created": "2019-12-02T20:45:36.154022+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FA2H as ready",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2019-12-02T20:45:36.146626+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fa2h has been classified as Red List (Low Evidence).",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2019-12-02T20:45:28.745462+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FA2H were changed from to Spastic paraplegia 35, autosomal recessive, MIM#612319",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2019-12-02T20:45:14.642629+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FA2H was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2019-12-02T20:45:04.170094+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FA2H as Red List (low evidence)",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2019-12-02T20:45:04.158377+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fa2h has been classified as Red List (Low Evidence).",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2019-12-02T20:44:50.502124+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FA2H: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 35, autosomal recessive, MIM#612319; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2019-12-02T10:55:10.536253+11:00",
"panel_name": "Ciliary dyskinesia_VCGS",
"panel_id": 82,
"panel_version": "0.2",
"user_name": "Seb L",
"item_type": "entity",
"text": "Marked gene: CFAP57 as ready",
"entity_name": "CFAP57",
"entity_type": "gene"
},
{
"created": "2019-12-02T10:55:10.529004+11:00",
"panel_name": "Ciliary dyskinesia_VCGS",
"panel_id": 82,
"panel_version": "0.2",
"user_name": "Seb L",
"item_type": "entity",
"text": "Gene: cfap57 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CFAP57",
"entity_type": "gene"
},
{
"created": "2019-12-02T10:54:29.625311+11:00",
"panel_name": "Ciliary dyskinesia_VCGS",
"panel_id": 82,
"panel_version": "0.2",
"user_name": "Seb L",
"item_type": "entity",
"text": "Classified gene: CFAP57 as Amber List (moderate evidence)",
"entity_name": "CFAP57",
"entity_type": "gene"
},
{
"created": "2019-12-02T10:54:29.615828+11:00",
"panel_name": "Ciliary dyskinesia_VCGS",
"panel_id": 82,
"panel_version": "0.2",
"user_name": "Seb L",
"item_type": "entity",
"text": "Gene: cfap57 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CFAP57",
"entity_type": "gene"
},
{
"created": "2019-12-02T10:53:51.460048+11:00",
"panel_name": "Ciliary dyskinesia_VCGS",
"panel_id": 82,
"panel_version": "0.1",
"user_name": "Seb L",
"item_type": "entity",
"text": "edited their review of gene: CFAP57: Added comment: Gene not in PubMed but recently published in bioRxiv in single patient with hom nonsense variants and Primary ciliary dyskinesia. Some functional data provided.; Changed publications: bioRxiv 773028 doi: https://doi.org/10.1101/773028",
"entity_name": "CFAP57",
"entity_type": "gene"
},
{
"created": "2019-12-02T10:50:11.479252+11:00",
"panel_name": "Ciliary dyskinesia_VCGS",
"panel_id": 82,
"panel_version": "0.1",
"user_name": "Seb L",
"item_type": "entity",
"text": "gene: CFAP57 was added\ngene: CFAP57 was added to Ciliary dyskinesia_VCGS. Sources: Literature\nMode of inheritance for gene: CFAP57 was set to BIALLELIC, autosomal or pseudoautosomal\nReview for gene: CFAP57 was set to AMBER\nAdded comment: Sources: Literature",
"entity_name": "CFAP57",
"entity_type": "gene"
},
{
"created": "2019-12-02T10:43:59.224603+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.146",
"user_name": "Seb L",
"item_type": "entity",
"text": "Classified gene: CFAP57 as Amber List (moderate evidence)",
"entity_name": "CFAP57",
"entity_type": "gene"
}
]
}