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{
"count": 220313,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1362",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1360",
"results": [
{
"created": "2021-04-07T18:00:30.323383+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AGA were changed from to Aspartylglucosaminuria, MIM# 208400",
"entity_name": "AGA",
"entity_type": "gene"
},
{
"created": "2021-04-07T18:00:04.849654+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AGA were set to ",
"entity_name": "AGA",
"entity_type": "gene"
},
{
"created": "2021-04-07T17:59:33.861894+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AGA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGA",
"entity_type": "gene"
},
{
"created": "2021-04-07T17:59:01.936088+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 1703489, 1904874, 8064811, 8946839; Phenotypes: Aspartylglucosaminuria, MIM# 208400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGA",
"entity_type": "gene"
},
{
"created": "2021-04-07T17:48:29.422358+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATCAY as ready",
"entity_name": "ATCAY",
"entity_type": "gene"
},
{
"created": "2021-04-07T17:48:29.411940+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atcay has been classified as Red List (Low Evidence).",
"entity_name": "ATCAY",
"entity_type": "gene"
},
{
"created": "2021-04-07T17:48:26.855180+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATCAY were changed from to Ataxia, cerebellar, Cayman type, MIM# 601238; MONDO:0011025",
"entity_name": "ATCAY",
"entity_type": "gene"
},
{
"created": "2021-04-07T17:48:03.851580+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATCAY were set to ",
"entity_name": "ATCAY",
"entity_type": "gene"
},
{
"created": "2021-04-07T17:47:26.512049+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATCAY was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATCAY",
"entity_type": "gene"
},
{
"created": "2021-04-07T17:46:57.682970+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATCAY as Red List (low evidence)",
"entity_name": "ATCAY",
"entity_type": "gene"
},
{
"created": "2021-04-07T17:46:57.669905+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atcay has been classified as Red List (Low Evidence).",
"entity_name": "ATCAY",
"entity_type": "gene"
},
{
"created": "2021-04-07T17:46:33.459115+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATCAY: Rating: RED; Mode of pathogenicity: None; Publications: 29449188, 23226316, 26343454, 14556008; Phenotypes: Ataxia, cerebellar, Cayman type, MIM# 601238, MONDO:0011025; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATCAY",
"entity_type": "gene"
},
{
"created": "2021-04-07T17:45:16.246021+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7032",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATCAY as ready",
"entity_name": "ATCAY",
"entity_type": "gene"
},
{
"created": "2021-04-07T17:45:16.236842+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7032",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atcay has been classified as Green List (High Evidence).",
"entity_name": "ATCAY",
"entity_type": "gene"
},
{
"created": "2021-04-07T17:45:07.705111+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7032",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATCAY were changed from to Ataxia, cerebellar, Cayman type, MIM# 601238; MONDO:0011025",
"entity_name": "ATCAY",
"entity_type": "gene"
},
{
"created": "2021-04-07T17:44:50.022289+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7031",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATCAY were set to ",
"entity_name": "ATCAY",
"entity_type": "gene"
},
{
"created": "2021-04-07T17:44:32.929277+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7030",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATCAY was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATCAY",
"entity_type": "gene"
},
{
"created": "2021-04-07T17:44:14.720469+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7029",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATCAY: Added comment: Report of a variant c.599_605del, p.Pro200Profs*20 (PMID 29449188), which is in addition to the previously reported linked variants in the Cayman population (c.965+3G > T & p.S301R)(PMID 29449188). Mouse and zebra fish models share phenotypic features with humans with Ataxia, cerebellar, Cayman type (OMIM:601238)(PMID 14556008; 26343454).; Changed rating: GREEN; Changed publications: 14556008, 29449188, 23226316, 26343454; Changed phenotypes: Ataxia, cerebellar, Cayman type, MIM# 601238, MONDO:0011025",
"entity_name": "ATCAY",
"entity_type": "gene"
},
{
"created": "2021-04-07T17:42:57.196954+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATCAY were changed from Ataxia, cerebellar, Cayman type, MIM# 601238 to Ataxia, cerebellar, Cayman type, MIM# 601238; MONDO:0011025",
"entity_name": "ATCAY",
"entity_type": "gene"
},
{
"created": "2021-04-07T17:17:58.203463+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATCAY were set to 14556008",
"entity_name": "ATCAY",
"entity_type": "gene"
},
{
"created": "2021-04-07T17:17:42.260908+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATCAY as Green List (high evidence)",
"entity_name": "ATCAY",
"entity_type": "gene"
},
{
"created": "2021-04-07T17:17:42.249553+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atcay has been classified as Green List (High Evidence).",
"entity_name": "ATCAY",
"entity_type": "gene"
},
{
"created": "2021-04-07T17:14:54.044672+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COPB1 were changed from Severe intellectual disability; variable microcephaly; cataracts to Baralle-Macken syndrome, MIM# 619255; Severe intellectual disability; variable microcephaly; cataracts",
"entity_name": "COPB1",
"entity_type": "gene"
},
{
"created": "2021-04-07T17:14:11.137101+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COPB1 were changed from Severe intellectual disability; variable microcephaly; cataracts to Baralle-Macken syndrome, MIM# 619255; Severe intellectual disability; variable microcephaly; cataracts",
"entity_name": "COPB1",
"entity_type": "gene"
},
{
"created": "2021-04-07T17:12:28.023638+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COPB1: Changed phenotypes: Baralle-Macken syndrome, MIM# 619255, Severe intellectual disability, variable microcephaly, cataracts",
"entity_name": "COPB1",
"entity_type": "gene"
},
{
"created": "2021-04-07T17:12:06.895333+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COPB1: Changed phenotypes: Baralle-Macken syndrome, MIM# 619255, Severe intellectual disability, variable microcephaly, cataracts",
"entity_name": "COPB1",
"entity_type": "gene"
},
{
"created": "2021-04-07T17:10:07.492999+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7029",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COPB1 were changed from Severe intellectual disability; variable microcephaly; cataracts to Baralle-Macken syndrome, MIM#\t619255; Severe intellectual disability; variable microcephaly; cataracts",
"entity_name": "COPB1",
"entity_type": "gene"
},
{
"created": "2021-04-07T17:09:39.767176+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7028",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COPB1: Changed phenotypes: Baralle-Macken syndrome, MIM# 619255, Severe intellectual disability, variable microcephaly, cataracts",
"entity_name": "COPB1",
"entity_type": "gene"
},
{
"created": "2021-04-07T17:09:18.277732+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COPB1 were changed from Severe intellectual disability; variable microcephaly; cataracts to Baralle-Macken syndrome, MIM#\t619255; Severe intellectual disability; variable microcephaly; cataracts",
"entity_name": "COPB1",
"entity_type": "gene"
},
{
"created": "2021-04-07T17:08:49.086531+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COPB1: Changed phenotypes: Baralle-Macken syndrome, MIM# 619255, Severe intellectual disability, variable microcephaly, cataracts",
"entity_name": "COPB1",
"entity_type": "gene"
},
{
"created": "2021-04-07T07:21:09.833973+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7028",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARAP3 as ready",
"entity_name": "ARAP3",
"entity_type": "gene"
},
{
"created": "2021-04-07T07:21:09.823074+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7028",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arap3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ARAP3",
"entity_type": "gene"
},
{
"created": "2021-04-07T07:21:00.170992+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7028",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARAP3 as Amber List (moderate evidence)",
"entity_name": "ARAP3",
"entity_type": "gene"
},
{
"created": "2021-04-07T07:21:00.160550+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7028",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arap3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ARAP3",
"entity_type": "gene"
},
{
"created": "2021-04-07T07:20:41.808557+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7027",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARAP3 was added\ngene: ARAP3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ARAP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARAP3 were set to 32908855\nPhenotypes for gene: ARAP3 were set to Lymphoedema\nReview for gene: ARAP3 was set to AMBER\nAdded comment: Three unrelated families reported with rare missense variants in this gene as part of a lymphoedema cohort. However, incomplete information regarding segregation and no supporting functional data. \nSources: Literature",
"entity_name": "ARAP3",
"entity_type": "gene"
},
{
"created": "2021-04-07T07:14:40.967827+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7026",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Association with lymphoedema: Two individuals reported with LoF variants as part of a large cohort. Note gene is depleted for LoF in gnomad, and bi-allelic variants have been associated with immunodeficiency.; to: Association with lymphoedema: Two individuals reported with LoF variants as part of a large cohort. Note gene is depleted for LoF in gnomad, and bi-allelic variants have been associated with immunodeficiency. Moderate evidence for gene-disease association.",
"entity_name": "RORC",
"entity_type": "gene"
},
{
"created": "2021-04-07T07:14:14.909408+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7026",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RORC: Added comment: Association with lymphoedema: Two individuals reported with LoF variants as part of a large cohort. Note gene is depleted for LoF in gnomad, and bi-allelic variants have been associated with immunodeficiency.; Changed publications: 26160376, 32960152; Changed phenotypes: Immunodeficiency 42, MIM# 616622, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, MONDO:0014710, Lymphoedema; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RORC",
"entity_type": "gene"
},
{
"created": "2021-04-07T07:06:46.248091+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7026",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RORC as ready",
"entity_name": "RORC",
"entity_type": "gene"
},
{
"created": "2021-04-07T07:06:46.236523+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7026",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rorc has been classified as Green List (High Evidence).",
"entity_name": "RORC",
"entity_type": "gene"
},
{
"created": "2021-04-07T07:06:38.850171+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7026",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RORC were changed from to Immunodeficiency 42, MIM# 616622; Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, MONDO:0014710",
"entity_name": "RORC",
"entity_type": "gene"
},
{
"created": "2021-04-07T07:06:16.768137+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7025",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RORC were set to ",
"entity_name": "RORC",
"entity_type": "gene"
},
{
"created": "2021-04-07T07:05:59.114708+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7024",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RORC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RORC",
"entity_type": "gene"
},
{
"created": "2021-04-07T07:05:40.206294+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7023",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RORC: Rating: GREEN; Mode of pathogenicity: None; Publications: 26160376; Phenotypes: Immunodeficiency 42, MIM# 616622, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, MONDO:0014710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RORC",
"entity_type": "gene"
},
{
"created": "2021-04-07T02:37:54.847288+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.274",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: ATCAY: Rating: GREEN; Mode of pathogenicity: None; Publications: 29449188, 23226316, 26343454; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATCAY",
"entity_type": "gene"
},
{
"created": "2021-04-06T21:58:45.172658+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL17RC as ready",
"entity_name": "IL17RC",
"entity_type": "gene"
},
{
"created": "2021-04-06T21:58:45.162628+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il17rc has been classified as Green List (High Evidence).",
"entity_name": "IL17RC",
"entity_type": "gene"
},
{
"created": "2021-04-06T21:58:33.691377+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IL17RC were changed from to Candidiasis, familial, 9, MIM# 616445; MONDO:0014642",
"entity_name": "IL17RC",
"entity_type": "gene"
},
{
"created": "2021-04-06T21:58:08.433957+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IL17RC were set to ",
"entity_name": "IL17RC",
"entity_type": "gene"
},
{
"created": "2021-04-06T21:57:30.005763+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IL17RC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IL17RC",
"entity_type": "gene"
},
{
"created": "2021-04-06T21:43:55.814983+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IL17RC: Rating: GREEN; Mode of pathogenicity: None; Publications: 25918342; Phenotypes: Candidiasis, familial, 9, MIM# 616445, MONDO:0014642; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IL17RC",
"entity_type": "gene"
},
{
"created": "2021-04-06T21:42:29.404665+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7023",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL17RC as ready",
"entity_name": "IL17RC",
"entity_type": "gene"
},
{
"created": "2021-04-06T21:42:29.394556+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7023",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il17rc has been classified as Green List (High Evidence).",
"entity_name": "IL17RC",
"entity_type": "gene"
},
{
"created": "2021-04-06T21:42:16.286766+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7023",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IL17RC were changed from to Candidiasis, familial, 9, MIM# 616445; MONDO:0014642",
"entity_name": "IL17RC",
"entity_type": "gene"
},
{
"created": "2021-04-06T21:41:56.339845+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7022",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IL17RC were set to ",
"entity_name": "IL17RC",
"entity_type": "gene"
},
{
"created": "2021-04-06T21:41:36.691748+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7021",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IL17RC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IL17RC",
"entity_type": "gene"
},
{
"created": "2021-04-06T21:41:16.825195+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7020",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IL17RC: Rating: GREEN; Mode of pathogenicity: None; Publications: 25918342; Phenotypes: Candidiasis, familial, 9, MIM# 616445, MONDO:0014642; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IL17RC",
"entity_type": "gene"
},
{
"created": "2021-04-06T20:53:24.944156+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL17RA as ready",
"entity_name": "IL17RA",
"entity_type": "gene"
},
{
"created": "2021-04-06T20:53:24.927397+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il17ra has been classified as Green List (High Evidence).",
"entity_name": "IL17RA",
"entity_type": "gene"
},
{
"created": "2021-04-06T20:53:22.647568+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IL17RA were changed from to Immunodeficiency 51, MIM# 613953; MONDO:0013500",
"entity_name": "IL17RA",
"entity_type": "gene"
},
{
"created": "2021-04-06T20:52:53.823439+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IL17RA were set to ",
"entity_name": "IL17RA",
"entity_type": "gene"
},
{
"created": "2021-04-06T20:52:30.358436+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IL17RA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IL17RA",
"entity_type": "gene"
},
{
"created": "2021-04-06T20:51:50.700591+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IL17RA: Rating: GREEN; Mode of pathogenicity: None; Publications: 21350122, 27930337; Phenotypes: Immunodeficiency 51, MIM# 613953, MONDO:0013500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IL17RA",
"entity_type": "gene"
},
{
"created": "2021-04-06T20:50:55.571795+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7020",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IL17RA were set to ",
"entity_name": "IL17RA",
"entity_type": "gene"
},
{
"created": "2021-04-06T20:50:37.817075+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7019",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IL17RA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IL17RA",
"entity_type": "gene"
},
{
"created": "2021-04-06T20:50:04.098282+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7018",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL17RA as ready",
"entity_name": "IL17RA",
"entity_type": "gene"
},
{
"created": "2021-04-06T20:50:04.088087+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7018",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il17ra has been classified as Green List (High Evidence).",
"entity_name": "IL17RA",
"entity_type": "gene"
},
{
"created": "2021-04-06T20:49:46.608616+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7018",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IL17RA were changed from to Immunodeficiency 51, MIM# 613953; MONDO:0013500",
"entity_name": "IL17RA",
"entity_type": "gene"
},
{
"created": "2021-04-06T20:49:09.460785+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7017",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IL17RA: Rating: GREEN; Mode of pathogenicity: None; Publications: 21350122, 27930337; Phenotypes: Immunodeficiency 51, MIM# 613953; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IL17RA",
"entity_type": "gene"
},
{
"created": "2021-04-06T20:44:53.766836+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CARD9 as ready",
"entity_name": "CARD9",
"entity_type": "gene"
},
{
"created": "2021-04-06T20:44:53.754433+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: card9 has been classified as Green List (High Evidence).",
"entity_name": "CARD9",
"entity_type": "gene"
},
{
"created": "2021-04-06T20:44:50.492045+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CARD9 were changed from to Candidiasis, familial, 2, autosomal recessive, MIM# 212050; Predisposition to invasive fungal disease, MONDO:0008905",
"entity_name": "CARD9",
"entity_type": "gene"
},
{
"created": "2021-04-06T20:44:27.346393+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CARD9 were set to ",
"entity_name": "CARD9",
"entity_type": "gene"
},
{
"created": "2021-04-06T20:44:03.307329+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CARD9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CARD9",
"entity_type": "gene"
},
{
"created": "2021-04-06T20:43:30.998093+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CARD9: Rating: GREEN; Mode of pathogenicity: None; Publications: 19864672, 23335372, 24131138, 33789983, 33558980, 33180249; Phenotypes: Candidiasis, familial, 2, autosomal recessive, MIM# 212050, Predisposition to invasive fungal disease, MONDO:0008905; Mode of inheritance: None",
"entity_name": "CARD9",
"entity_type": "gene"
},
{
"created": "2021-04-06T20:42:23.687216+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7017",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CARD9 as ready",
"entity_name": "CARD9",
"entity_type": "gene"
},
{
"created": "2021-04-06T20:42:23.606556+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7017",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: card9 has been classified as Green List (High Evidence).",
"entity_name": "CARD9",
"entity_type": "gene"
},
{
"created": "2021-04-06T20:42:16.199056+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7017",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CARD9 were changed from to Candidiasis, familial, 2, autosomal recessive, MIM# 212050; Predisposition to invasive fungal disease, MONDO:0008905",
"entity_name": "CARD9",
"entity_type": "gene"
},
{
"created": "2021-04-06T20:41:54.597139+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7016",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CARD9 were set to ",
"entity_name": "CARD9",
"entity_type": "gene"
},
{
"created": "2021-04-06T20:41:35.562478+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7015",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CARD9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CARD9",
"entity_type": "gene"
},
{
"created": "2021-04-06T20:41:16.768961+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7014",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CARD9: Rating: GREEN; Mode of pathogenicity: None; Publications: 19864672, 23335372, 24131138, 33789983, 33558980, 33180249; Phenotypes: Candidiasis, familial, 2, autosomal recessive, MIM# 212050, Predisposition to invasive fungal disease, MONDO:0008905; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CARD9",
"entity_type": "gene"
},
{
"created": "2021-04-06T12:30:49.958338+10:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-04-06T12:27:13.185645+10:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC34A1 as ready",
"entity_name": "SLC34A1",
"entity_type": "gene"
},
{
"created": "2021-04-06T12:27:13.176504+10:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc34a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC34A1",
"entity_type": "gene"
},
{
"created": "2021-04-06T12:27:06.353401+10:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC34A1 were changed from to Hypercalcaemia, infantile, 2 MIM#616963",
"entity_name": "SLC34A1",
"entity_type": "gene"
},
{
"created": "2021-04-06T12:26:35.415825+10:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC34A1 were set to ",
"entity_name": "SLC34A1",
"entity_type": "gene"
},
{
"created": "2021-04-06T12:26:09.954466+10:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC34A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC34A1",
"entity_type": "gene"
},
{
"created": "2021-04-06T12:25:42.771823+10:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC34A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26047794, 33516786, 33099630, 32866123, 31188746, 30943683; Phenotypes: Hypercalcaemia, infantile, 2 MIM#616963; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC34A1",
"entity_type": "gene"
},
{
"created": "2021-04-06T12:23:01.042093+10:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTH1R as ready",
"entity_name": "PTH1R",
"entity_type": "gene"
},
{
"created": "2021-04-06T12:23:01.030939+10:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pth1r has been classified as Green List (High Evidence).",
"entity_name": "PTH1R",
"entity_type": "gene"
},
{
"created": "2021-04-06T12:22:58.782779+10:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTH1R were changed from to Metaphyseal chondrodysplasia, Murk Jansen type, MIM# 156400; MONDO:0007982",
"entity_name": "PTH1R",
"entity_type": "gene"
},
{
"created": "2021-04-06T12:22:03.335550+10:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PTH1R were set to ",
"entity_name": "PTH1R",
"entity_type": "gene"
},
{
"created": "2021-04-06T12:21:39.569265+10:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PTH1R was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTH1R",
"entity_type": "gene"
},
{
"created": "2021-04-06T12:21:07.736268+10:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PTH1R: Rating: GREEN; Mode of pathogenicity: None; Publications: 7701349, 29788189; Phenotypes: Metaphyseal chondrodysplasia, Murk Jansen type, MIM# 156400, MONDO:0007982; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTH1R",
"entity_type": "gene"
},
{
"created": "2021-04-06T12:14:49.314325+10:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNA11 as ready",
"entity_name": "GNA11",
"entity_type": "gene"
},
{
"created": "2021-04-06T12:14:49.300848+10:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gna11 has been classified as Green List (High Evidence).",
"entity_name": "GNA11",
"entity_type": "gene"
},
{
"created": "2021-04-06T12:14:46.823814+10:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNA11 were changed from to Hypocalciuric hypercalcaemia, type II, MIM# 145981; MONDO:0007792",
"entity_name": "GNA11",
"entity_type": "gene"
},
{
"created": "2021-04-06T12:14:17.971918+10:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNA11 were set to ",
"entity_name": "GNA11",
"entity_type": "gene"
},
{
"created": "2021-04-06T12:13:51.415070+10:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GNA11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNA11",
"entity_type": "gene"
},
{
"created": "2021-04-06T12:13:17.212424+10:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GNA11: Rating: GREEN; Mode of pathogenicity: None; Publications: 23802516, 28833550, 27913609; Phenotypes: Hypocalciuric hypercalcaemia, type II, MIM# 145981, MONDO:0007792; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNA11",
"entity_type": "gene"
},
{
"created": "2021-04-05T21:29:38.739660+10:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MEN1 as ready",
"entity_name": "MEN1",
"entity_type": "gene"
}
]
}