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{
"count": 220324,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1327",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1325",
"results": [
{
"created": "2021-05-07T21:02:48.270491+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd5 has been classified as Green List (High Evidence).",
"entity_name": "CHD5",
"entity_type": "gene"
},
{
"created": "2021-05-07T21:01:53.858122+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHD5 as Green List (high evidence)",
"entity_name": "CHD5",
"entity_type": "gene"
},
{
"created": "2021-05-07T21:01:53.847549+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd5 has been classified as Green List (High Evidence).",
"entity_name": "CHD5",
"entity_type": "gene"
},
{
"created": "2021-05-07T21:01:10.548104+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3752",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHD5 was added\ngene: CHD5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CHD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CHD5 were set to 33944996\nPhenotypes for gene: CHD5 were set to Intellectual disability; Epilepsy\nReview for gene: CHD5 was set to GREEN\nAdded comment: 16 unrelated individuals reported with language deficits (81%), behavioral symptoms (69%), intellectual disability (64%), epilepsy (62%), and motor delay (56%). \nSources: Literature",
"entity_name": "CHD5",
"entity_type": "gene"
},
{
"created": "2021-05-07T20:31:40.273696+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MME as ready",
"entity_name": "MME",
"entity_type": "gene"
},
{
"created": "2021-05-07T20:31:40.262593+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mme has been classified as Green List (High Evidence).",
"entity_name": "MME",
"entity_type": "gene"
},
{
"created": "2021-05-07T20:31:33.105274+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MME were changed from to Charcot-Marie-Tooth disease, axonal, type 2T, MIM# 617017; MONDO:0014866; Spinocerebellar ataxia 43 MIM#617018",
"entity_name": "MME",
"entity_type": "gene"
},
{
"created": "2021-05-07T20:31:17.099430+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MME were set to ",
"entity_name": "MME",
"entity_type": "gene"
},
{
"created": "2021-05-07T20:30:58.300781+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MME was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MME",
"entity_type": "gene"
},
{
"created": "2021-05-07T20:30:38.256843+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MME: Rating: GREEN; Mode of pathogenicity: None; Publications: 26991897, 27588448, 33144514, 31429185, 27583304; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2T, MIM# 617017, MONDO:0014866, Spinocerebellar ataxia 43 MIM#617018; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MME",
"entity_type": "gene"
},
{
"created": "2021-05-07T18:03:51.752633+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3751",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FBXO31 were changed from Mental retardation, autosomal recessive 45, MIM#615979; Cerebral palsy, intellectual disability, autosomal dominant to Mental retardation, autosomal recessive 45, MIM#615979; Spastic-dystonic cerebral palsy, de novo dominant",
"entity_name": "FBXO31",
"entity_type": "gene"
},
{
"created": "2021-05-07T18:03:25.431922+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3750",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FBXO31 were set to 24623383; 32989326",
"entity_name": "FBXO31",
"entity_type": "gene"
},
{
"created": "2021-05-07T18:02:50.420638+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3749",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FBXO31 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FBXO31",
"entity_type": "gene"
},
{
"created": "2021-05-07T18:01:51.590210+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3748",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FBXO31 as Green List (high evidence)",
"entity_name": "FBXO31",
"entity_type": "gene"
},
{
"created": "2021-05-07T18:01:51.581491+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3748",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxo31 has been classified as Green List (High Evidence).",
"entity_name": "FBXO31",
"entity_type": "gene"
},
{
"created": "2021-05-07T18:01:19.219153+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Single consanguineous family reported with homozygous truncating variant, limited functional evidence.; to: AR ID: Single consanguineous family reported with homozygous truncating variant, limited functional evidence.",
"entity_name": "FBXO31",
"entity_type": "gene"
},
{
"created": "2021-05-07T18:01:07.837821+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FBXO31: Added comment: PMIDs 33675180; 32989326: three unrelated individuals with de novo missense variant, (p.Asp334Asn) and spastic-dystonic CP, including ID.; Changed rating: GREEN; Changed publications: 24623383, 33675180, 32989326; Changed phenotypes: Mental retardation, autosomal recessive 45, MIM#615979, Spastic-dystonic cerebral palsy, de novo dominant; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FBXO31",
"entity_type": "gene"
},
{
"created": "2021-05-07T17:59:56.316601+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FBXO31 were changed from Mental retardation, autosomal recessive 45, MIM#615979; Cerebral palsy, intellectual disability, autosomal dominant to Mental retardation, autosomal recessive 45, MIM#615979; Spastic-dystonic cerebral palsy, intellectual disability, de novo dominant",
"entity_name": "FBXO31",
"entity_type": "gene"
},
{
"created": "2021-05-07T17:57:27.424027+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FBXO31 as Green List (high evidence)",
"entity_name": "FBXO31",
"entity_type": "gene"
},
{
"created": "2021-05-07T17:57:27.413860+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxo31 has been classified as Green List (High Evidence).",
"entity_name": "FBXO31",
"entity_type": "gene"
},
{
"created": "2021-05-07T17:57:11.873759+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Single consanguineous family reported with homozygous truncating variant, limited functional evidence. \nSources: Expert list; to: AR intellectual disability: Single consanguineous family reported with homozygous truncating variant, limited functional evidence. \r\nSources: Expert list",
"entity_name": "FBXO31",
"entity_type": "gene"
},
{
"created": "2021-05-07T17:56:48.409853+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FBXO31: Added comment: PMIDs 33675180; 32989326: three unrelated individuals with de novo missense variant, (p.Asp334Asn) and spastic-dystonic CP.; Changed rating: GREEN; Changed publications: 24623383, 33675180, 32989326; Changed phenotypes: Mental retardation, autosomal recessive 45, MIM#615979, Spastic-dystonic cerebral palsy, de novo dominant; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FBXO31",
"entity_type": "gene"
},
{
"created": "2021-05-07T17:55:04.012648+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FBXO31 as Green List (high evidence)",
"entity_name": "FBXO31",
"entity_type": "gene"
},
{
"created": "2021-05-07T17:55:04.002406+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxo31 has been classified as Green List (High Evidence).",
"entity_name": "FBXO31",
"entity_type": "gene"
},
{
"created": "2021-05-07T17:54:34.023290+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FBXO31: Rating: GREEN; Mode of pathogenicity: None; Publications: 33675180; Phenotypes: Spastic-dystonic cerebral palsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FBXO31",
"entity_type": "gene"
},
{
"created": "2021-05-07T14:49:23.898838+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-05-07T14:46:41.345671+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TUFT1 was added\ngene: TUFT1 was added to Amelogenesis imperfecta. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TUFT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TUFT1 were set to 7919663\nPhenotypes for gene: TUFT1 were set to amelogenesis imperfecta",
"entity_name": "TUFT1",
"entity_type": "gene"
},
{
"created": "2021-05-07T14:46:41.297424+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TP63 was added\ngene: TP63 was added to Amelogenesis imperfecta. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: TP63 were set to Split hand-split foot-ectodermal dysplasia and amelogenesis imperfecta",
"entity_name": "TP63",
"entity_type": "gene"
},
{
"created": "2021-05-07T14:46:41.246976+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM165 was added\ngene: TMEM165 was added to Amelogenesis imperfecta. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TMEM165 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM165 were set to 22683087\nPhenotypes for gene: TMEM165 were set to amelogenesis imperfecta",
"entity_name": "TMEM165",
"entity_type": "gene"
},
{
"created": "2021-05-07T14:46:41.197416+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMARCD2 was added\ngene: SMARCD2 was added to Amelogenesis imperfecta. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SMARCD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SMARCD2 were set to 28369036\nPhenotypes for gene: SMARCD2 were set to Specific granule deficiency 2, 617475",
"entity_name": "SMARCD2",
"entity_type": "gene"
},
{
"created": "2021-05-07T14:46:41.152046+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNJ1 was added\ngene: KCNJ1 was added to Amelogenesis imperfecta. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: KCNJ1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KCNJ1 were set to 23341834\nPhenotypes for gene: KCNJ1 were set to Amelogenesis Imperfecta; Bartter syndrome, type 2, 241200",
"entity_name": "KCNJ1",
"entity_type": "gene"
},
{
"created": "2021-05-07T14:46:41.101035+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SP6 was added\ngene: SP6 was added to Amelogenesis imperfecta. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SP6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SP6 were set to 18297738; 32167558; 18156176; 22676574\nPhenotypes for gene: SP6 were set to Amelogenesis Imperfecta",
"entity_name": "SP6",
"entity_type": "gene"
},
{
"created": "2021-05-07T14:46:41.048353+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX26 was added\ngene: PEX26 was added to Amelogenesis imperfecta. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PEX26 were set to 28944237\nPhenotypes for gene: PEX26 were set to Peroxisome biogenesis disorder 7B, 614873; Peroxisome biogenesis disorder 7A (Zellweger), 614872; enamel dysplasia; Heimler syndrome; Amelogenesis imperfecta",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2021-05-07T14:46:41.001174+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMC2 was added\ngene: LAMC2 was added to Amelogenesis imperfecta. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: LAMC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: LAMC2 were set to 26956061\nPhenotypes for gene: LAMC2 were set to Amelogenesis Imperfecta; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Epidermolysis bullosa, junctional, Herlitz type, 226700",
"entity_name": "LAMC2",
"entity_type": "gene"
},
{
"created": "2021-05-07T14:46:40.954744+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ITGB4 was added\ngene: ITGB4 was added to Amelogenesis imperfecta. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: ITGB4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: ITGB4 were set to Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (includes enamel pitting); Amelogenesis Imperfecta; Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (includes Enamel hypoplasia)",
"entity_name": "ITGB4",
"entity_type": "gene"
},
{
"created": "2021-05-07T14:46:40.907721+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLDN19 was added\ngene: CLDN19 was added to Amelogenesis imperfecta. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CLDN19 were set to 27530400\nPhenotypes for gene: CLDN19 were set to Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis (FHHNC)",
"entity_name": "CLDN19",
"entity_type": "gene"
},
{
"created": "2021-05-07T14:46:40.859518+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLDN16 was added\ngene: CLDN16 was added to Amelogenesis imperfecta. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CLDN16 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CLDN16 were set to 26426912\nPhenotypes for gene: CLDN16 were set to Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis (FHHNC)",
"entity_name": "CLDN16",
"entity_type": "gene"
},
{
"created": "2021-05-07T14:46:40.812852+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AMTN was added\ngene: AMTN was added to Amelogenesis imperfecta. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: AMTN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AMTN were set to 27412008\nPhenotypes for gene: AMTN were set to dominant hypomineralised AI; Amelogenesis imperfecta; ?Amelogenesis imperfecta, type IIIB, \t617607; Amelogenesis imperfecta, hypomaturation type",
"entity_name": "AMTN",
"entity_type": "gene"
},
{
"created": "2021-05-07T14:46:40.766686+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WDR72 was added\ngene: WDR72 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: WDR72 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WDR72 were set to 21196691; 27259663; 20938048; 26502894; 23293580; 25008349; 19853237\nPhenotypes for gene: WDR72 were set to Amelogenesis Imperfecta, Type IIA3, 613211; Amelogenesis imperfecta, type IIA3, 613211; Amelogenesis Imperfecta, Recessive; Hypomaturation AI",
"entity_name": "WDR72",
"entity_type": "gene"
},
{
"created": "2021-05-07T14:46:40.718572+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STIM1 was added\ngene: STIM1 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: STIM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: STIM1 were set to 19420366; 26560041; 24621671; 22190180; 28732182\nPhenotypes for gene: STIM1 were set to Immunodeficiency 10, 612783",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2021-05-07T14:46:40.666761+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC24A4 was added\ngene: SLC24A4 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SLC24A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC24A4 were set to 24621671; 25442250; 24532815; 26502894; 27129268; 23375655\nPhenotypes for gene: SLC24A4 were set to Amelogenesis imperfecta, type IIA5, 615887; amelogenesis imperfecta (non-syndromic form); hypomaturation/hypomineralised amelogenesis imperfecta",
"entity_name": "SLC24A4",
"entity_type": "gene"
},
{
"created": "2021-05-07T14:46:40.612858+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC13A5 was added\ngene: SLC13A5 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SLC13A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC13A5 were set to 27261973; 26384929; 27600704; 24995870\nPhenotypes for gene: SLC13A5 were set to Kohlsch tter-T nz syndrome(KTZS); Epileptic encephalopathy, early infantile, 25 615905; hypoplastic amelogenesis imperfecta",
"entity_name": "SLC13A5",
"entity_type": "gene"
},
{
"created": "2021-05-07T14:46:40.564652+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC10A7 was added\ngene: SLC10A7 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SLC10A7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC10A7 were set to 29878199; 30082715\nPhenotypes for gene: SLC10A7 were set to short stature; amelogenesis imperfect hypo mineralised; skeletal dysplasia; Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (SSASKS) 618363; skeletal dysplasia and amelogenesis imperfecta; scoliosis",
"entity_name": "SLC10A7",
"entity_type": "gene"
},
{
"created": "2021-05-07T14:46:40.518882+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ROGDI was added\ngene: ROGDI was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ROGDI was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ROGDI were set to 22482807; 28651123; 3236364; 22424600; 25565929; 23086778\nPhenotypes for gene: ROGDI were set to Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth); Kohlschutter-Tonz syndrome, 226750",
"entity_name": "ROGDI",
"entity_type": "gene"
},
{
"created": "2021-05-07T14:46:40.472907+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RELT was added\ngene: RELT was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: RELT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RELT were set to 30506946\nPhenotypes for gene: RELT were set to amelogenesis imperfecta (hypoplastic); Amelogenesis imperfecta, type IIIC, 618386",
"entity_name": "RELT",
"entity_type": "gene"
},
{
"created": "2021-05-07T14:46:40.426671+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX6 was added\ngene: PEX6 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PEX6 were set to 26387595; 27302843; 16530715\nPhenotypes for gene: PEX6 were set to Peroxisome biogenesis disorder 4A (Zellweger), 614862; Heimler Syndrome 2, 616617 (includes amelogenesis imperfecta); Peroxisome biogenesis disorder 4B, 614863",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2021-05-07T14:46:40.379424+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX1 was added\ngene: PEX1 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PEX1 were set to 26387595; 27633571; 27302843\nPhenotypes for gene: PEX1 were set to Peroxisome biogenesis disorder 1A (Zellweger), 214100; Heimler Syndrome 1, 234580 (includes amelogenesis imperfecta); Peroxisomal Biogenesis Disorder 1A (NALD / IRD) 601539; hypomineralized amelogenesis imperfecta; amelogenesis imperfecta",
"entity_name": "PEX1",
"entity_type": "gene"
},
{
"created": "2021-05-07T14:46:40.334425+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ORAI1 was added\ngene: ORAI1 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ORAI1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ORAI1 were set to 26469693; 16582901; 20004786\nPhenotypes for gene: ORAI1 were set to Immunodeficiency 9, 612782",
"entity_name": "ORAI1",
"entity_type": "gene"
},
{
"created": "2021-05-07T14:46:40.286381+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MMP20 was added\ngene: MMP20 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MMP20 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MMP20 were set to 23625376; 26124219; 28659819; 19966041; 26502894; 28473773; 23355523; 18096894; 16246936; 15744043\nPhenotypes for gene: MMP20 were set to Amelogenesis Imperfecta, Hypomaturation Type, IIA2, 612529; Amelogenesis imperfecta, type IIA2, 612529; Amelogenesis Imperfecta, Recessive",
"entity_name": "MMP20",
"entity_type": "gene"
},
{
"created": "2021-05-07T14:46:40.238987+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LTBP3 was added\ngene: LTBP3 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: LTBP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LTBP3 were set to 28084688; 25669657\nPhenotypes for gene: LTBP3 were set to Dental anomalies and short stature, 601216; Amelogenesis Imperfecta; syndromic AI with brachyolmia",
"entity_name": "LTBP3",
"entity_type": "gene"
},
{
"created": "2021-05-07T14:46:40.192186+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMB3 was added\ngene: LAMB3 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: LAMB3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: LAMB3 were set to 23958762; 7706760; 23632796; 26502894; 27220909; 25769099; 24494736\nPhenotypes for gene: LAMB3 were set to Amelogenesis Imperfecta, Type IA, 104530; Epidermolysis bullosa, junctional, Herlitz type, 26700; Amelogenesis imperfecta, type IA, 104530; Epidermolysis bullosa, junctional, non-Herlitz type, 226650\nMode of pathogenicity for gene: LAMB3 was set to Other - please provide details in the comments",
"entity_name": "LAMB3",
"entity_type": "gene"
},
{
"created": "2021-05-07T14:46:40.145598+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMA3 was added\ngene: LAMA3 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: LAMA3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: LAMA3 were set to 22434185; 26502894; 27827380\nPhenotypes for gene: LAMA3 were set to Laryngoonychocutaneous syndrome 245660; Epidermolysis bullosa, junctional, Herlitz type 226700; Epidermolysis bullosa, generalized atrophic benign 226650; Amelogenesis imperfecta, hypoplastic type",
"entity_name": "LAMA3",
"entity_type": "gene"
},
{
"created": "2021-05-07T14:46:40.086981+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KLK4 was added\ngene: KLK4 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: KLK4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KLK4 were set to 15235027; 23355523; 26124219; 28611678\nPhenotypes for gene: KLK4 were set to Amelogenesis Imperfecta, Hypomaturation Type, IIA1, 204700; Amelogenesis imperfecta, type IIA1, 204700",
"entity_name": "KLK4",
"entity_type": "gene"
},
{
"created": "2021-05-07T14:46:40.037940+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ITGB6 was added\ngene: ITGB6 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ITGB6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ITGB6 were set to 25431241; 26695873; 24305999; 24319098\nPhenotypes for gene: ITGB6 were set to Amelogenesis imperfecta, type IH, 616221; amelogenesis imperfecta (non-syndromic form); Amelogenesis imperfecta, type IH, 616221",
"entity_name": "ITGB6",
"entity_type": "gene"
},
{
"created": "2021-05-07T14:46:39.990602+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GPR68 was added\ngene: GPR68 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GPR68 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GPR68 were set to 27693231\nPhenotypes for gene: GPR68 were set to Amelogenesis imperfecta, hypomaturation type, IIA6, 617217",
"entity_name": "GPR68",
"entity_type": "gene"
},
{
"created": "2021-05-07T14:46:39.942004+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FAM83H was added\ngene: FAM83H was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: FAM83H was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FAM83H were set to 18484629; 19407157; 19825039; 26481691; 21702852; 20160442; 26142250; 22414746; 19828885; 19220331; 26502894; 18252228; 21597265; 21118793; 26788537; 26171361\nPhenotypes for gene: FAM83H were set to Amelogenesis imperfecta, type III, 130900; Amelogenesis Imperfecta, Type III, 130900; Hypocalcified AI\nMode of pathogenicity for gene: FAM83H was set to Other - please provide details in the comments",
"entity_name": "FAM83H",
"entity_type": "gene"
},
{
"created": "2021-05-07T14:46:39.895008+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FAM20C was added\ngene: FAM20C was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAM20C were set to 24982027; 20825432; 24458843; 20453638; 25928877; 27667191; 23325605; 27862258; 19250384; 17924334; 24039075\nPhenotypes for gene: FAM20C were set to hypoplastic Amelogenesis Imperfecta; Raine Syndrome, 259775",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2021-05-07T14:46:39.842961+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FAM20A was added\ngene: FAM20A was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: FAM20A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAM20A were set to 23434854; 23697977; 23468644; 24756937; 21549343; 24259279; 24196488; 26502894; 25827751; 21990045\nPhenotypes for gene: FAM20A were set to Amelogenesis Imperfecta, Type IG, 204690; Hypomieralised AI; Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690",
"entity_name": "FAM20A",
"entity_type": "gene"
},
{
"created": "2021-05-07T14:46:39.796433+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ENAM was added\ngene: ENAM was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ENAM was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: ENAM were set to 14684688; 11978766; 12407086; 20439930; 25769099; 22540999; 25143514; 22029166; 19329462; 28334996; 26502894; 17316551; 21597265; 16246937; 15723871; 11487571\nPhenotypes for gene: ENAM were set to Amelogenesis imperfecta, type IB, 104500; Amelogenesis imperfecta, type IC, 204650; autosomal recessive amelogenesis imperfecta; Amelogenesis Imperfecta, Dominant",
"entity_name": "ENAM",
"entity_type": "gene"
},
{
"created": "2021-05-07T14:46:39.729068+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DLX3 was added\ngene: DLX3 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DLX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DLX3 were set to 15666299; 23949819; 26104267; 21252474; 20151948; 9467018\nPhenotypes for gene: DLX3 were set to amelogenesis imperfecta with taurodontism; hypoplastic AI, taurodontism and kinky hair; Tricho-dento-osseous syndrome (TDO) (includes enamel hypoplasia); Amelogenesis Imperfecta, Dominant; Tricho-Dento-Osseous syndrome , Amelogenesis Imperfecta, hypoplastic; Trichodontoosseous syndrome, 190320; Amelogenesis imperfecta, type IV, 104510; Amelogenesis Imperfecta, Type IV, 104510",
"entity_name": "DLX3",
"entity_type": "gene"
},
{
"created": "2021-05-07T14:46:39.678105+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL17A1 was added\ngene: COL17A1 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COL17A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: COL17A1 were set to 26502894; 27558265; 8669466; 16820943\nPhenotypes for gene: COL17A1 were set to non-Herlitz junctional epidermolysis bullosa (nH-JEB) and amelogenesis imperfecta; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (includes enamel pitting); Amelogenesis Imperfecta; hypoplastic amelogenesis imperfecta",
"entity_name": "COL17A1",
"entity_type": "gene"
},
{
"created": "2021-05-07T14:46:39.632640+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CNNM4 was added\ngene: CNNM4 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CNNM4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CNNM4 were set to cone-rod dystrophy and amelogenesis imperfecta; Jalili syndrome, 217080 (includes amelogenesis imperfecta)",
"entity_name": "CNNM4",
"entity_type": "gene"
},
{
"created": "2021-05-07T14:46:39.584963+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C4orf26 was added\ngene: C4orf26 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: C4orf26 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C4orf26 were set to 22901946; 27558265\nPhenotypes for gene: C4orf26 were set to Amelogenesis imperfecta, type IIA4, 614832; Amelogenesis Imperfecta, Type IIA4, 614832; hypomineralized amelogenesis imperfecta",
"entity_name": "C4orf26",
"entity_type": "gene"
},
{
"created": "2021-05-07T14:46:39.537056+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AMELX was added\ngene: AMELX was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: AMELX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: AMELX were set to 17189466; 22243263; 7599636; 23251683; 1483698; 1916828; 9188994; 15111628; 11201048; 26502894; 7782077; 11922869; 28130977; 8406474; 11839357; 25117480; 19610109\nPhenotypes for gene: AMELX were set to Amelogenesis imperfecta, type 1E, 301200; hypomaturation AI with variable hypoplastic foci; smooth hypoplastic AI; iX-linked hypoplastic amelogenesis imperfecta",
"entity_name": "AMELX",
"entity_type": "gene"
},
{
"created": "2021-05-07T14:46:39.492273+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AMBN was added\ngene: AMBN was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: AMBN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AMBN were set to 24858907; 26502894\nPhenotypes for gene: AMBN were set to Amelogenesis imperfecta, type IF, 616270",
"entity_name": "AMBN",
"entity_type": "gene"
},
{
"created": "2021-05-07T14:46:39.444479+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACP4 was added\ngene: ACP4 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ACP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACP4 were set to 28513613; 27843125\nPhenotypes for gene: ACP4 were set to Amelogenesis imperfecta, type IJ, 617297; hypoplastic amelogenesis imperfecta",
"entity_name": "ACP4",
"entity_type": "gene"
},
{
"created": "2021-05-07T14:46:39.409252+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added panel Amelogenesis imperfecta",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-05-07T13:17:16.508494+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPEG as ready",
"entity_name": "SPEG",
"entity_type": "gene"
},
{
"created": "2021-05-07T13:17:16.498888+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: speg has been classified as Green List (High Evidence).",
"entity_name": "SPEG",
"entity_type": "gene"
},
{
"created": "2021-05-07T13:16:27.162863+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPEG as Green List (high evidence)",
"entity_name": "SPEG",
"entity_type": "gene"
},
{
"created": "2021-05-07T13:16:27.152385+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: speg has been classified as Green List (High Evidence).",
"entity_name": "SPEG",
"entity_type": "gene"
},
{
"created": "2021-05-07T13:16:19.281642+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPEG was added\ngene: SPEG was added to Cardiomyopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: SPEG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPEG were set to 32925938; 33794647\nPhenotypes for gene: SPEG were set to Dilated cardiomyopathy; centronuclear myopathy\nReview for gene: SPEG was set to GREEN\nAdded comment: Reports of early onset isolated DCM, as well as cardiomyopathy in the context of skeletal myopathy. \nSources: Literature",
"entity_name": "SPEG",
"entity_type": "gene"
},
{
"created": "2021-05-07T13:10:24.926214+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RCAN1 as ready",
"entity_name": "RCAN1",
"entity_type": "gene"
},
{
"created": "2021-05-07T13:10:24.914431+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rcan1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RCAN1",
"entity_type": "gene"
},
{
"created": "2021-05-07T13:10:14.246018+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RCAN1 as Amber List (moderate evidence)",
"entity_name": "RCAN1",
"entity_type": "gene"
},
{
"created": "2021-05-07T13:10:14.235500+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rcan1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RCAN1",
"entity_type": "gene"
},
{
"created": "2021-05-07T13:09:58.494735+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RCAN1 was added\ngene: RCAN1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RCAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RCAN1 were set to 33863784\nPhenotypes for gene: RCAN1 were set to FSGS; proteinuria\nReview for gene: RCAN1 was set to AMBER\nAdded comment: Two families reported, some functional data. \nSources: Literature",
"entity_name": "RCAN1",
"entity_type": "gene"
},
{
"created": "2021-05-07T13:09:42.113422+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RCAN1 as ready",
"entity_name": "RCAN1",
"entity_type": "gene"
},
{
"created": "2021-05-07T13:09:42.100332+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rcan1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RCAN1",
"entity_type": "gene"
},
{
"created": "2021-05-07T13:09:39.673753+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RCAN1 as Amber List (moderate evidence)",
"entity_name": "RCAN1",
"entity_type": "gene"
},
{
"created": "2021-05-07T13:09:39.663433+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rcan1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RCAN1",
"entity_type": "gene"
},
{
"created": "2021-05-07T13:08:34.190432+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RCAN1 was added\ngene: RCAN1 was added to Proteinuria. Sources: Literature\nMode of inheritance for gene: RCAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RCAN1 were set to 33863784\nPhenotypes for gene: RCAN1 were set to FSGS; proteinuria\nReview for gene: RCAN1 was set to AMBER\nAdded comment: Two families reported, some functional data. \nSources: Literature",
"entity_name": "RCAN1",
"entity_type": "gene"
},
{
"created": "2021-05-07T13:03:40.995061+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNFX1 as ready",
"entity_name": "ZNFX1",
"entity_type": "gene"
},
{
"created": "2021-05-07T13:03:40.985132+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znfx1 has been classified as Green List (High Evidence).",
"entity_name": "ZNFX1",
"entity_type": "gene"
},
{
"created": "2021-05-07T13:03:32.865621+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZNFX1 were changed from Multisystem inflammation; susceptibility to viral infections to Multisystem inflammation; susceptibility to viral infections; monocytosis; susceptibility to mycobacterial infection",
"entity_name": "ZNFX1",
"entity_type": "gene"
},
{
"created": "2021-05-07T13:01:08.795908+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZNFX1 as Green List (high evidence)",
"entity_name": "ZNFX1",
"entity_type": "gene"
},
{
"created": "2021-05-07T13:01:08.784922+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znfx1 has been classified as Green List (High Evidence).",
"entity_name": "ZNFX1",
"entity_type": "gene"
},
{
"created": "2021-05-07T13:00:11.015544+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZNFX1 was added\ngene: ZNFX1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ZNFX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNFX1 were set to 33872655; 33876776\nPhenotypes for gene: ZNFX1 were set to Multisystem inflammation; susceptibility to viral infections\nReview for gene: ZNFX1 was set to GREEN\nAdded comment: 15 individuals from 8 families reported with multi-system inflammation and susceptibility to viral infections.\r\n\r\nIn addition, four indviduals from two unrelated kindreds reported with intermittent monocytosis and mycobacterial disease, including bacillus Calmette-Guérin-osis and disseminated tuberculosis. \nSources: Literature",
"entity_name": "ZNFX1",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:57:48.228021+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DPYSL5 as ready",
"entity_name": "DPYSL5",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:57:48.216366+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dpysl5 has been classified as Green List (High Evidence).",
"entity_name": "DPYSL5",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:57:43.239404+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DPYSL5 as Green List (high evidence)",
"entity_name": "DPYSL5",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:57:43.229545+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dpysl5 has been classified as Green List (High Evidence).",
"entity_name": "DPYSL5",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:57:06.320320+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNFX1 as ready",
"entity_name": "ZNFX1",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:57:06.309408+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znfx1 has been classified as Green List (High Evidence).",
"entity_name": "ZNFX1",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:57:03.194751+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZNFX1 as Green List (high evidence)",
"entity_name": "ZNFX1",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:57:03.185429+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znfx1 has been classified as Green List (High Evidence).",
"entity_name": "ZNFX1",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:56:32.498941+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZNFX1 was added\ngene: ZNFX1 was added to Susceptibility to Viral Infections. Sources: Literature\nMode of inheritance for gene: ZNFX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNFX1 were set to 33872655\nPhenotypes for gene: ZNFX1 were set to Multisystem inflammation; susceptibility to viral infections\nReview for gene: ZNFX1 was set to GREEN\nAdded comment: 15 individuals from 8 families reported. \nSources: Literature",
"entity_name": "ZNFX1",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:55:59.519928+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNFX1 as ready",
"entity_name": "ZNFX1",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:55:59.509181+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znfx1 has been classified as Green List (High Evidence).",
"entity_name": "ZNFX1",
"entity_type": "gene"
},
{
"created": "2021-05-07T12:55:52.110320+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZNFX1 as Green List (high evidence)",
"entity_name": "ZNFX1",
"entity_type": "gene"
}
]
}