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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1914",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1912",
"results": [
{
"created": "2020-03-02T14:07:24.317436+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tshr has been classified as Red List (Low Evidence).",
"entity_name": "TSHR",
"entity_type": "gene"
},
{
"created": "2020-03-02T14:06:35.597523+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TSHR were changed from to Hypothyroidism, congenital, nongoitrous, 1, MIM# 275200",
"entity_name": "TSHR",
"entity_type": "gene"
},
{
"created": "2020-03-02T14:06:03.933517+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TSHR was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TSHR",
"entity_type": "gene"
},
{
"created": "2020-03-02T14:05:01.240912+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TSHR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TSHR",
"entity_type": "gene"
},
{
"created": "2020-03-02T14:04:18.445034+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TSHR as Red List (low evidence)",
"entity_name": "TSHR",
"entity_type": "gene"
},
{
"created": "2020-03-02T14:04:18.435159+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tshr has been classified as Red List (Low Evidence).",
"entity_name": "TSHR",
"entity_type": "gene"
},
{
"created": "2020-03-02T14:03:42.897761+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TSHR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypothyroidism, congenital, nongoitrous, 1, MIM# 275200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TSHR",
"entity_type": "gene"
},
{
"created": "2020-03-02T13:59:30.795616+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSEN15 as ready",
"entity_name": "TSEN15",
"entity_type": "gene"
},
{
"created": "2020-03-02T13:59:30.782009+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tsen15 has been classified as Green List (High Evidence).",
"entity_name": "TSEN15",
"entity_type": "gene"
},
{
"created": "2020-03-02T13:59:24.613748+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TSEN15 as Green List (high evidence)",
"entity_name": "TSEN15",
"entity_type": "gene"
},
{
"created": "2020-03-02T13:59:24.600718+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tsen15 has been classified as Green List (High Evidence).",
"entity_name": "TSEN15",
"entity_type": "gene"
},
{
"created": "2020-03-02T13:58:36.490241+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TSEN15 was added\ngene: TSEN15 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: TSEN15 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TSEN15 were set to 27392077; 30914295; 25558065\nPhenotypes for gene: TSEN15 were set to Pontocerebellar hypoplasia, type 2F, 617026\nReview for gene: TSEN15 was set to GREEN\nAdded comment: Three unrelated families reported. \nSources: Expert list",
"entity_name": "TSEN15",
"entity_type": "gene"
},
{
"created": "2020-03-02T13:40:49.789109+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VPS45 as ready",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2020-03-02T13:40:49.780091+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps45 has been classified as Green List (High Evidence).",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2020-03-02T13:40:42.746502+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VPS45 as Green List (high evidence)",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2020-03-02T13:40:42.737791+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps45 has been classified as Green List (High Evidence).",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2020-03-02T13:40:13.833563+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VPS45 was added\ngene: VPS45 was added to Bone Marrow Failure. Sources: Expert list\nMode of inheritance for gene: VPS45 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VPS45 were set to 23599270; 23738510\nPhenotypes for gene: VPS45 were set to Neutropenia, severe congenital, 5, autosomal recessive, MIM#615285\nReview for gene: VPS45 was set to GREEN\ngene: VPS45 was marked as current diagnostic\nAdded comment: Same homozygous missense variant, p.Thr224Asn, identified in 6 Middle Eastern families. A different variant, p.Glu238Lys, identified in another family. Zebrafish model. \nSources: Expert list",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2020-03-02T13:33:46.285800+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCIRG1 as ready",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2020-03-02T13:33:46.276714+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tcirg1 has been classified as Green List (High Evidence).",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2020-03-02T13:33:40.815121+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TCIRG1 as Green List (high evidence)",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2020-03-02T13:33:40.806190+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tcirg1 has been classified as Green List (High Evidence).",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2020-03-02T13:33:12.122982+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TCIRG1 was added\ngene: TCIRG1 was added to Bone Marrow Failure. Sources: Expert list\nMode of inheritance for gene: TCIRG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TCIRG1 were set to Osteopetrosis, autosomal recessive 1, MIM#\t259700\nReview for gene: TCIRG1 was set to GREEN\ngene: TCIRG1 was marked as current diagnostic\nAdded comment: Pancytopaenia is a presenting feature. \nSources: Expert list",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2020-03-02T13:29:40.984123+11:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPL26 as ready",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2020-03-02T13:29:40.970044+11:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl26 has been classified as Red List (Low Evidence).",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2020-03-02T13:29:36.696740+11:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPL26 were changed from to Diamond-Blackfan anemia 11, MIM# 614900",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2020-03-02T13:29:07.384903+11:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPL26 were set to ",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2020-03-02T13:28:37.290047+11:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPL26 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2020-03-02T13:28:05.551276+11:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPL26 as Red List (low evidence)",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2020-03-02T13:28:05.537746+11:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl26 has been classified as Red List (Low Evidence).",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2020-03-02T13:27:34.227584+11:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RPL26: Rating: RED; Mode of pathogenicity: None; Publications: 22431104; Phenotypes: Diamond-Blackfan anemia 11, MIM# 614900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2020-03-02T13:26:25.069514+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPL26 as ready",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2020-03-02T13:26:25.056533+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl26 has been classified as Red List (Low Evidence).",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2020-03-02T13:26:13.574907+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPL26 were changed from to Diamond-Blackfan anemia 11, MIM# 614900",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2020-03-02T13:25:47.578176+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPL26 were set to ",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2020-03-02T13:25:28.166488+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPL26 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2020-03-02T13:25:08.474001+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPL26 as Red List (low evidence)",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2020-03-02T13:25:08.465053+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl26 has been classified as Red List (Low Evidence).",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2020-03-02T13:24:39.311961+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RPL26: Rating: RED; Mode of pathogenicity: None; Publications: 22431104; Phenotypes: Diamond-Blackfan anemia 11, MIM# 614900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2020-03-02T13:23:40.926769+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPL26 as ready",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2020-03-02T13:23:40.918255+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl26 has been classified as Red List (Low Evidence).",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2020-03-02T13:23:37.766137+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPL26 were changed from to Diamond-Blackfan anemia 11, MIM# 614900",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2020-03-02T13:23:08.789316+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPL26 were set to ",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2020-03-02T13:22:38.824899+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPL26 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2020-03-02T13:22:12.050425+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPL26 as Red List (low evidence)",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2020-03-02T13:22:12.041373+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl26 has been classified as Red List (Low Evidence).",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2020-03-02T13:21:42.326501+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RPL26: Rating: RED; Mode of pathogenicity: None; Publications: 22431104; Phenotypes: Diamond-Blackfan anemia 11, MIM# 614900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2020-03-02T13:20:12.402934+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPL26 as ready",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2020-03-02T13:20:12.394127+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl26 has been classified as Red List (Low Evidence).",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2020-03-02T13:20:02.598058+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL26 was added\ngene: RPL26 was added to Bone Marrow Failure. Sources: Expert list\nMode of inheritance for gene: RPL26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPL26 were set to 22431104\nPhenotypes for gene: RPL26 were set to Diamond-Blackfan anemia 11, MIM#\t614900\nReview for gene: RPL26 was set to RED\nAdded comment: Single reported individual. \nSources: Expert list",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2020-03-02T12:45:21.408099+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1575",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: KRT6A: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 21326300; Phenotypes: Pachyonychia congenita 3 (MIM#615726); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "KRT6A",
"entity_type": "gene"
},
{
"created": "2020-03-02T12:32:41.260206+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPL15 as ready",
"entity_name": "RPL15",
"entity_type": "gene"
},
{
"created": "2020-03-02T12:32:41.247065+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl15 has been classified as Green List (High Evidence).",
"entity_name": "RPL15",
"entity_type": "gene"
},
{
"created": "2020-03-02T12:15:07.684699+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPL15 as Green List (high evidence)",
"entity_name": "RPL15",
"entity_type": "gene"
},
{
"created": "2020-03-02T12:15:07.670186+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl15 has been classified as Green List (High Evidence).",
"entity_name": "RPL15",
"entity_type": "gene"
},
{
"created": "2020-03-02T12:14:35.635384+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL15 was added\ngene: RPL15 was added to Bone Marrow Failure. Sources: Expert list\nMode of inheritance for gene: RPL15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPL15 were set to 23812780; 29599205\nPhenotypes for gene: RPL15 were set to Diamond-Blackfan anemia 12, MIM#\t615550\nReview for gene: RPL15 was set to GREEN\ngene: RPL15 was marked as current diagnostic\nAdded comment: 7 unrelated individuals reported to date. \nSources: Expert list",
"entity_name": "RPL15",
"entity_type": "gene"
},
{
"created": "2020-03-02T12:10:47.978689+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: JAGN1 as ready",
"entity_name": "JAGN1",
"entity_type": "gene"
},
{
"created": "2020-03-02T12:10:47.970298+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jagn1 has been classified as Green List (High Evidence).",
"entity_name": "JAGN1",
"entity_type": "gene"
},
{
"created": "2020-03-02T12:10:42.377719+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: JAGN1 as Green List (high evidence)",
"entity_name": "JAGN1",
"entity_type": "gene"
},
{
"created": "2020-03-02T12:10:42.363807+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jagn1 has been classified as Green List (High Evidence).",
"entity_name": "JAGN1",
"entity_type": "gene"
},
{
"created": "2020-03-02T12:10:13.418179+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: JAGN1 was added\ngene: JAGN1 was added to Bone Marrow Failure. Sources: Expert list\nMode of inheritance for gene: JAGN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: JAGN1 were set to 25129144\nPhenotypes for gene: JAGN1 were set to Neutropenia, severe congenital, 6, autosomal recessive, MIM#\t616022\nReview for gene: JAGN1 was set to GREEN\ngene: JAGN1 was marked as current diagnostic\nAdded comment: Fourteen individuals from 9 families reported. \nSources: Expert list",
"entity_name": "JAGN1",
"entity_type": "gene"
},
{
"created": "2020-03-02T12:02:10.495796+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ETV6 as ready",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2020-03-02T12:02:10.486742+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: etv6 has been classified as Green List (High Evidence).",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2020-03-02T12:02:05.425155+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ETV6 as Green List (high evidence)",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2020-03-02T12:02:05.411409+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: etv6 has been classified as Green List (High Evidence).",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2020-03-02T12:01:35.831782+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ETV6 was added\ngene: ETV6 was added to Bone Marrow Failure. Sources: Expert list\nMode of inheritance for gene: ETV6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ETV6 were set to 25581430; 25807284\nPhenotypes for gene: ETV6 were set to Thrombocytopenia 5, MIM#\t616216\nReview for gene: ETV6 was set to GREEN\ngene: ETV6 was marked as current diagnostic\nAdded comment: At least 6 unrelated families reported. \nSources: Expert list",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2020-03-02T11:58:48.889238+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSF3R as ready",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2020-03-02T11:58:48.875936+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csf3r has been classified as Green List (High Evidence).",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2020-03-02T11:58:42.890911+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CSF3R as Green List (high evidence)",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2020-03-02T11:58:42.877141+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csf3r has been classified as Green List (High Evidence).",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2020-03-02T11:58:13.125430+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CSF3R was added\ngene: CSF3R was added to Bone Marrow Failure. Sources: Expert list\nMode of inheritance for gene: CSF3R was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CSF3R were set to 24753537; 26324699\nPhenotypes for gene: CSF3R were set to Neutropenia, severe congenital, 7, autosomal recessive, MIM#\t617014\nReview for gene: CSF3R was set to GREEN\ngene: CSF3R was marked as current diagnostic\nAdded comment: Three unrelated families reported. \nSources: Expert list",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2020-03-02T09:53:06.542986+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCC6 as ready",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2020-03-02T09:53:06.530078+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcc6 has been classified as Green List (High Evidence).",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2020-03-02T09:52:53.632030+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCC6 were changed from Pseudoxanthoma elasticum (MIM# 264800) to Pseudoxanthoma elasticum, MIM# 264800; Pseudoxanthoma elasticum, forme fruste, MIM#177850",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2020-03-02T09:51:19.219341+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCC6 were changed from to Pseudoxanthoma elasticum (MIM# 264800)",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2020-03-02T09:51:03.686062+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABCC6 were set to ",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2020-03-02T09:50:49.783580+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABCC6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2020-03-02T09:49:22.410089+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABCC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2020-03-02T09:48:28.841787+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAX1 as ready",
"entity_name": "PAX1",
"entity_type": "gene"
},
{
"created": "2020-03-02T09:48:28.833659+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pax1 has been classified as Green List (High Evidence).",
"entity_name": "PAX1",
"entity_type": "gene"
},
{
"created": "2020-03-02T09:48:24.712479+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAX1 were changed from Syndromic SCID; dysmorphism; ear abnormalities; otofaciocervical syndrome to Syndromic SCID; dysmorphism; ear abnormalities; Otofaciocervical syndrome 2, MIM#\t615560",
"entity_name": "PAX1",
"entity_type": "gene"
},
{
"created": "2020-03-02T09:47:30.566833+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PAX1 as Green List (high evidence)",
"entity_name": "PAX1",
"entity_type": "gene"
},
{
"created": "2020-03-02T09:47:30.554591+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pax1 has been classified as Green List (High Evidence).",
"entity_name": "PAX1",
"entity_type": "gene"
},
{
"created": "2020-03-02T09:46:58.348762+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PAX1 was added\ngene: PAX1 was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Literature\nMode of inheritance for gene: PAX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PAX1 were set to 32111619\nPhenotypes for gene: PAX1 were set to Syndromic SCID; dysmorphism; ear abnormalities; otofaciocervical syndrome\nReview for gene: PAX1 was set to GREEN\nAdded comment: 6 individuals from three unrelated families. \nSources: Literature",
"entity_name": "PAX1",
"entity_type": "gene"
},
{
"created": "2020-03-02T09:23:42.678606+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1570",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: ABCC6: Rating: ; Mode of pathogenicity: None; Publications: PMID: 11536079; Phenotypes: Pseudoxanthoma elasticum (MIM# 264800); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2020-03-01T20:40:26.135220+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIP13 as ready",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2020-03-01T20:40:26.125489+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trip13 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2020-03-01T20:40:15.437059+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRIP13 were changed from to Mosaic variegated aneuploidy syndrome 3, MIM# 617598",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2020-03-01T20:39:47.188924+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRIP13 were set to ",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2020-03-01T20:39:18.040838+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRIP13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2020-03-01T20:38:49.242807+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRIP13 as Amber List (moderate evidence)",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2020-03-01T20:38:49.229995+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trip13 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2020-03-01T20:38:13.481101+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRIP13: Rating: AMBER; Mode of pathogenicity: None; Publications: 28553959; Phenotypes: Mosaic variegated aneuploidy syndrome 3, MIM# 617598; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2020-03-01T20:31:41.991378+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIM8 as ready",
"entity_name": "TRIM8",
"entity_type": "gene"
},
{
"created": "2020-03-01T20:31:41.978334+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trim8 has been classified as Green List (High Evidence).",
"entity_name": "TRIM8",
"entity_type": "gene"
},
{
"created": "2020-03-01T20:31:33.216150+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRIM8 were changed from to Intellectual disability; Seizures",
"entity_name": "TRIM8",
"entity_type": "gene"
},
{
"created": "2020-03-01T20:31:09.364692+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRIM8 were set to ",
"entity_name": "TRIM8",
"entity_type": "gene"
},
{
"created": "2020-03-01T20:30:46.069530+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRIM8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRIM8",
"entity_type": "gene"
},
{
"created": "2020-03-01T20:30:07.426327+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRIM8: Rating: GREEN; Mode of pathogenicity: None; Publications: 30244534, 27346735, 23934111; Phenotypes: Intellectual disability, Seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRIM8",
"entity_type": "gene"
},
{
"created": "2020-03-01T20:29:17.598776+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIM8 as ready",
"entity_name": "TRIM8",
"entity_type": "gene"
},
{
"created": "2020-03-01T20:29:17.585050+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trim8 has been classified as Green List (High Evidence).",
"entity_name": "TRIM8",
"entity_type": "gene"
}
]
}