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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1716",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1714",
"results": [
{
"created": "2020-07-23T11:16:15.223987+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: RPS29: Two families reported in 2014, none since.",
"entity_name": "RPS29",
"entity_type": "gene"
},
{
"created": "2020-07-23T11:10:11.266053+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPS29 as ready",
"entity_name": "RPS29",
"entity_type": "gene"
},
{
"created": "2020-07-23T11:10:11.255273+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps29 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPS29",
"entity_type": "gene"
},
{
"created": "2020-07-23T11:10:06.537098+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPS29 were changed from to Diamond-Blackfan anemia 13, MIM# 615909",
"entity_name": "RPS29",
"entity_type": "gene"
},
{
"created": "2020-07-23T11:09:42.976938+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPS29 were set to ",
"entity_name": "RPS29",
"entity_type": "gene"
},
{
"created": "2020-07-23T11:09:19.990198+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPS29 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPS29",
"entity_type": "gene"
},
{
"created": "2020-07-23T11:08:59.605263+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPS29 as Amber List (moderate evidence)",
"entity_name": "RPS29",
"entity_type": "gene"
},
{
"created": "2020-07-23T11:08:59.596369+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps29 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPS29",
"entity_type": "gene"
},
{
"created": "2020-07-23T11:08:35.736403+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RPS29: Changed rating: AMBER",
"entity_name": "RPS29",
"entity_type": "gene"
},
{
"created": "2020-07-23T11:08:29.629203+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RPS29: Rating: ; Mode of pathogenicity: None; Publications: 24829207; Phenotypes: Diamond-Blackfan anemia 13, MIM# 615909; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPS29",
"entity_type": "gene"
},
{
"created": "2020-07-23T11:04:35.238507+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SF3B4 as ready",
"entity_name": "SF3B4",
"entity_type": "gene"
},
{
"created": "2020-07-23T11:04:35.227705+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sf3b4 has been classified as Green List (High Evidence).",
"entity_name": "SF3B4",
"entity_type": "gene"
},
{
"created": "2020-07-23T11:04:31.321817+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SF3B4 as Green List (high evidence)",
"entity_name": "SF3B4",
"entity_type": "gene"
},
{
"created": "2020-07-23T11:04:31.311812+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sf3b4 has been classified as Green List (High Evidence).",
"entity_name": "SF3B4",
"entity_type": "gene"
},
{
"created": "2020-07-23T11:04:04.997200+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SF3B4 was added\ngene: SF3B4 was added to Radial Ray Abnormalities. Sources: Expert list\nMode of inheritance for gene: SF3B4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SF3B4 were set to 22541558\nPhenotypes for gene: SF3B4 were set to Acrofacial dysostosis 1, Nager type, MIM#\t154400\nReview for gene: SF3B4 was set to GREEN\nAdded comment: Well established gene-disease association, radial ray abnormalities are a key feature. \nSources: Expert list",
"entity_name": "SF3B4",
"entity_type": "gene"
},
{
"created": "2020-07-23T09:55:08.944753+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SHOX as ready",
"entity_name": "SHOX",
"entity_type": "gene"
},
{
"created": "2020-07-23T09:55:08.933358+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shox has been classified as Green List (High Evidence).",
"entity_name": "SHOX",
"entity_type": "gene"
},
{
"created": "2020-07-23T09:55:00.475884+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SHOX as Green List (high evidence)",
"entity_name": "SHOX",
"entity_type": "gene"
},
{
"created": "2020-07-23T09:55:00.464989+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shox has been classified as Green List (High Evidence).",
"entity_name": "SHOX",
"entity_type": "gene"
},
{
"created": "2020-07-23T09:54:34.046285+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SHOX was added\ngene: SHOX was added to Radial Ray Abnormalities. Sources: Expert list\nMode of inheritance for gene: SHOX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: SHOX were set to Leri-Weill dyschondrosteosis, MIM# 127300; Langer mesomelic dysplasia, MIM#249700\nReview for gene: SHOX was set to GREEN\nAdded comment: Well established gene-disease association, radial ray abnormalities are a key feature. \nSources: Expert list",
"entity_name": "SHOX",
"entity_type": "gene"
},
{
"created": "2020-07-23T09:49:39.238086+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: UBE2T.",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2020-07-23T09:48:45.499778+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMC1A as ready",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2020-07-23T09:48:45.488784+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smc1a has been classified as Green List (High Evidence).",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2020-07-23T09:48:41.295541+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMC1A as Green List (high evidence)",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2020-07-23T09:48:41.285694+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smc1a has been classified as Green List (High Evidence).",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2020-07-23T09:48:17.863907+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMC1A was added\ngene: SMC1A was added to Radial Ray Abnormalities. Sources: Expert list\nMode of inheritance for gene: SMC1A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: SMC1A were set to Cornelia de Lange syndrome 2, MIM#\t300590\nReview for gene: SMC1A was set to GREEN\nAdded comment: Well established gene-disease association, radial ray abnormalities are part of the phenotype. XLD. \nSources: Expert list",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2020-07-23T09:39:06.136513+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SMC3: Changed publications: 25125236, 25655089; Changed phenotypes: Cornelia de Lange syndrome 3, MIM# 610759",
"entity_name": "SMC3",
"entity_type": "gene"
},
{
"created": "2020-07-23T09:38:58.542710+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMC3 as ready",
"entity_name": "SMC3",
"entity_type": "gene"
},
{
"created": "2020-07-23T09:38:58.532649+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smc3 has been classified as Green List (High Evidence).",
"entity_name": "SMC3",
"entity_type": "gene"
},
{
"created": "2020-07-23T09:38:54.958226+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMC3 were set to 25125236",
"entity_name": "SMC3",
"entity_type": "gene"
},
{
"created": "2020-07-23T09:37:24.929755+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMC3 as Green List (high evidence)",
"entity_name": "SMC3",
"entity_type": "gene"
},
{
"created": "2020-07-23T09:37:24.921092+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smc3 has been classified as Green List (High Evidence).",
"entity_name": "SMC3",
"entity_type": "gene"
},
{
"created": "2020-07-23T09:37:02.826583+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMC3 was added\ngene: SMC3 was added to Radial Ray Abnormalities. Sources: Expert list\nMode of inheritance for gene: SMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMC3 were set to 25125236\nPhenotypes for gene: SMC3 were set to Cornelia de Lange syndrome 3, MIM#\t610759\nReview for gene: SMC3 was set to GREEN\nAdded comment: Well established gene-disease association, radial ray abnormalities are part of the phenotype. \nSources: Expert list",
"entity_name": "SMC3",
"entity_type": "gene"
},
{
"created": "2020-07-23T09:34:25.288656+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBE2T as ready",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2020-07-23T09:34:25.277625+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ube2t has been classified as Green List (High Evidence).",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2020-07-23T09:34:20.989164+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UBE2T as Green List (high evidence)",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2020-07-23T09:34:20.979060+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ube2t has been classified as Green List (High Evidence).",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2020-07-23T09:33:55.139795+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UBE2T was added\ngene: UBE2T was added to Radial Ray Abnormalities. Sources: Expert list\nMode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UBE2T were set to 26046368; 26085575; 26119737\nPhenotypes for gene: UBE2T were set to Fanconi anemia, complementation group T, MIM#\t616435\nReview for gene: UBE2T was set to GREEN\nAdded comment: At least three families reported, including with radial ray abnormalities. Note some of the variants are CNVs. \nSources: Expert list",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2020-07-23T09:30:32.954049+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WNT7A as ready",
"entity_name": "WNT7A",
"entity_type": "gene"
},
{
"created": "2020-07-23T09:30:32.942914+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wnt7a has been classified as Green List (High Evidence).",
"entity_name": "WNT7A",
"entity_type": "gene"
},
{
"created": "2020-07-23T09:30:29.172350+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WNT7A as Green List (high evidence)",
"entity_name": "WNT7A",
"entity_type": "gene"
},
{
"created": "2020-07-23T09:30:29.162164+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wnt7a has been classified as Green List (High Evidence).",
"entity_name": "WNT7A",
"entity_type": "gene"
},
{
"created": "2020-07-23T09:30:04.104545+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WNT7A was added\ngene: WNT7A was added to Radial Ray Abnormalities. Sources: Expert list\nMode of inheritance for gene: WNT7A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WNT7A were set to 21344627; 20949531; 16826533\nPhenotypes for gene: WNT7A were set to Fuhrmann syndrome, MIM#\t228930; Ulna and fibula, absence of, with severe limb deficiency, MIM#\t276820\nReview for gene: WNT7A was set to GREEN\nAdded comment: Although WNT7A-related conditions cause ulnar abnormalities, include in this panel due to phenotypic overlap (single forearm bone may be difficult to distinguish, particularly in non-specialist setting). \nSources: Expert list",
"entity_name": "WNT7A",
"entity_type": "gene"
},
{
"created": "2020-07-23T09:25:08.951411+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZIC3 as ready",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2020-07-23T09:25:08.939882+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zic3 has been classified as Green List (High Evidence).",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2020-07-23T09:25:00.072303+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZIC3 as Green List (high evidence)",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2020-07-23T09:25:00.057023+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zic3 has been classified as Green List (High Evidence).",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2020-07-23T09:24:34.787800+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZIC3 was added\ngene: ZIC3 was added to Radial Ray Abnormalities. Sources: Expert list\nMode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: ZIC3 were set to 21465648; 20452998; 26294094\nPhenotypes for gene: ZIC3 were set to VACTERL association, X-linked\t314390\nReview for gene: ZIC3 was set to GREEN\nAdded comment: Several families reported with VACTERL-H association, gene is also linked to laterality defects and isolated congenital heart disease. \nSources: Expert list",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2020-07-23T07:54:40.292975+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UMOD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "UMOD",
"entity_type": "gene"
},
{
"created": "2020-07-23T07:54:22.560020+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UMOD: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "UMOD",
"entity_type": "gene"
},
{
"created": "2020-07-23T07:43:28.958032+10:00",
"panel_name": "Renal Tubulointerstitial Disease",
"panel_id": 199,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MUC1 as ready",
"entity_name": "MUC1",
"entity_type": "gene"
},
{
"created": "2020-07-23T07:43:28.947251+10:00",
"panel_name": "Renal Tubulointerstitial Disease",
"panel_id": 199,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: muc1 has been classified as Green List (High Evidence).",
"entity_name": "MUC1",
"entity_type": "gene"
},
{
"created": "2020-07-23T07:43:22.291640+10:00",
"panel_name": "Renal Tubulointerstitial Disease",
"panel_id": 199,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MUC1 were changed from to Medullary cystic kidney disease 1, MIM# 174000",
"entity_name": "MUC1",
"entity_type": "gene"
},
{
"created": "2020-07-23T07:42:59.820266+10:00",
"panel_name": "Renal Tubulointerstitial Disease",
"panel_id": 199,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MUC1 were set to ",
"entity_name": "MUC1",
"entity_type": "gene"
},
{
"created": "2020-07-23T07:42:37.242307+10:00",
"panel_name": "Renal Tubulointerstitial Disease",
"panel_id": 199,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MUC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MUC1",
"entity_type": "gene"
},
{
"created": "2020-07-23T07:42:09.507016+10:00",
"panel_name": "Renal Tubulointerstitial Disease",
"panel_id": 199,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MUC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23396133; Phenotypes: Medullary cystic kidney disease 1, MIM# 174000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MUC1",
"entity_type": "gene"
},
{
"created": "2020-07-23T07:39:55.820893+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: REN as ready",
"entity_name": "REN",
"entity_type": "gene"
},
{
"created": "2020-07-23T07:39:55.809856+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ren has been classified as Green List (High Evidence).",
"entity_name": "REN",
"entity_type": "gene"
},
{
"created": "2020-07-23T07:39:47.830305+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: REN were changed from to Renal tubular dysgenesis, MIM# 267430; Autosomal dominant tubulointerstitial disease",
"entity_name": "REN",
"entity_type": "gene"
},
{
"created": "2020-07-23T07:39:29.759430+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: REN were set to ",
"entity_name": "REN",
"entity_type": "gene"
},
{
"created": "2020-07-23T07:39:11.092119+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: REN was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "REN",
"entity_type": "gene"
},
{
"created": "2020-07-23T07:38:51.070055+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: REN: Rating: GREEN; Mode of pathogenicity: None; Publications: 16116425, 31586593, 31406136, 28701203, 21473025; Phenotypes: Renal tubular dysgenesis, MIM# 267430, Autosomal dominant tubulointerstitial disease; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "REN",
"entity_type": "gene"
},
{
"created": "2020-07-23T07:30:14.581667+10:00",
"panel_name": "Renal Tubulointerstitial Disease",
"panel_id": 199,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: REN as ready",
"entity_name": "REN",
"entity_type": "gene"
},
{
"created": "2020-07-23T07:30:14.571346+10:00",
"panel_name": "Renal Tubulointerstitial Disease",
"panel_id": 199,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ren has been classified as Green List (High Evidence).",
"entity_name": "REN",
"entity_type": "gene"
},
{
"created": "2020-07-23T07:30:05.883117+10:00",
"panel_name": "Renal Tubulointerstitial Disease",
"panel_id": 199,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: REN were changed from to Autosomal dominant tubulointerstitial disease",
"entity_name": "REN",
"entity_type": "gene"
},
{
"created": "2020-07-23T07:29:32.067851+10:00",
"panel_name": "Renal Tubulointerstitial Disease",
"panel_id": 199,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: REN were set to ",
"entity_name": "REN",
"entity_type": "gene"
},
{
"created": "2020-07-23T07:29:04.240382+10:00",
"panel_name": "Renal Tubulointerstitial Disease",
"panel_id": 199,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: REN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "REN",
"entity_type": "gene"
},
{
"created": "2020-07-23T07:28:40.125314+10:00",
"panel_name": "Renal Tubulointerstitial Disease",
"panel_id": 199,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: REN: Rating: GREEN; Mode of pathogenicity: None; Publications: 31586593, 31406136, 28701203, 21473025; Phenotypes: Autosomal dominant tubulointerstitial disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "REN",
"entity_type": "gene"
},
{
"created": "2020-07-22T21:14:13.760378+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MDH1 were changed from epilepsy; microcephaly; intellectual disability to epilepsy; microcephaly; intellectual disability; Epileptic encephalopathy, early infantile, 88, MIM#618959Epileptic encephalopathy, early infantile, 88, MIM#618959",
"entity_name": "MDH1",
"entity_type": "gene"
},
{
"created": "2020-07-22T21:13:55.602082+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3468",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MDH1: Changed phenotypes: epilepsy, microcephaly, intellectual disability, Epileptic encephalopathy, early infantile, 88, MIM#618959",
"entity_name": "MDH1",
"entity_type": "gene"
},
{
"created": "2020-07-22T21:13:37.402165+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.760",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MDH1 were changed from epilepsy; microcephaly; intellectual disability to epilepsy; microcephaly; intellectual disability; Epileptic encephalopathy, early infantile, 88, MIM#618959",
"entity_name": "MDH1",
"entity_type": "gene"
},
{
"created": "2020-07-22T21:13:07.090628+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MDH1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31538237,; Phenotypes: Epileptic encephalopathy, early infantile, 88, MIM#618959; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MDH1",
"entity_type": "gene"
},
{
"created": "2020-07-22T21:11:13.616293+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3468",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IL6R were changed from Recurrent pyogenic infections, cold abscesses; High circulating IL-6 levels; High IgE to Recurrent pyogenic infections, cold abscesses; High circulating IL-6 levels; High IgE; IgE recurrent infection syndrome, MIM#618944",
"entity_name": "IL6R",
"entity_type": "gene"
},
{
"created": "2020-07-22T21:10:52.600496+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IL6R: Changed phenotypes: Recurrent pyogenic infections, cold abscesses, High circulating IL-6 levels, High IgE, IgE recurrent infection syndrome, MIM#618944",
"entity_name": "IL6R",
"entity_type": "gene"
},
{
"created": "2020-07-22T21:10:37.410507+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IL6R were changed from Recurrent pyogenic infections, cold abscesses; High circulating IL-6 levels; High IgE to Recurrent pyogenic infections, cold abscesses; High circulating IL-6 levels; High IgE; IgE recurrent infection syndrome, MIM#618944",
"entity_name": "IL6R",
"entity_type": "gene"
},
{
"created": "2020-07-22T21:10:02.054215+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IL6R: Changed phenotypes: Recurrent pyogenic infections, cold abscesses, High circulating IL-6 levels, High IgE, IgE recurrent infection syndrome, MIM#618944",
"entity_name": "IL6R",
"entity_type": "gene"
},
{
"created": "2020-07-22T20:58:25.235375+10:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GAA as ready",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2020-07-22T20:58:25.223674+10:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gaa has been classified as Green List (High Evidence).",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2020-07-22T20:58:22.476024+10:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GAA were changed from to Glycogen storage disease II (MIM#232300)",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2020-07-22T20:57:57.609802+10:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GAA were set to ",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2020-07-22T20:57:36.289474+10:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GAA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2020-07-22T20:56:56.962798+10:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RBCK1 as ready",
"entity_name": "RBCK1",
"entity_type": "gene"
},
{
"created": "2020-07-22T20:56:56.947370+10:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbck1 has been classified as Green List (High Evidence).",
"entity_name": "RBCK1",
"entity_type": "gene"
},
{
"created": "2020-07-22T20:55:26.967722+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:PYGM from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-07-22T20:55:04.389682+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:PYGL from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-07-22T20:54:31.674659+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:PRKAG2 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-07-22T20:53:45.839970+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:PHKA2 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-07-22T20:53:26.453415+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:PGM1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-07-22T20:53:03.876597+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:PGK1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-07-22T20:52:30.364112+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:PGAM2 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-07-22T20:51:23.482335+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:PFKM from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-07-22T20:50:15.717867+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:LDHA from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-07-22T20:49:16.773332+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:GYS2 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-07-22T20:48:55.842883+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:GYS1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-07-22T20:48:03.151768+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:GYG1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-07-22T20:46:44.357704+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:GBE1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-07-22T20:45:52.384313+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:G6PC from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-07-22T20:44:57.289155+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:ENO3 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-07-22T20:44:00.830854+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:ALDOA from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-07-22T20:43:13.213966+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:AGL from the panel",
"entity_name": null,
"entity_type": null
}
]
}