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{
"count": 220314,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1452",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1450",
"results": [
{
"created": "2021-01-05T11:03:47.080936+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TTC37 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTC37",
"entity_type": "gene"
},
{
"created": "2021-01-05T11:03:17.556069+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TTC37: Rating: GREEN; Mode of pathogenicity: None; Publications: 20176027, 17318842; Phenotypes: Trichohepatoenteric syndrome 1, MIM# 222470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTC37",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:50:08.774193+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WNT2B as ready",
"entity_name": "WNT2B",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:50:08.766346+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wnt2b has been classified as Green List (High Evidence).",
"entity_name": "WNT2B",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:50:00.358690+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WNT2B were changed from to Diarrhoea 9, MIM# 618168",
"entity_name": "WNT2B",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:49:42.172207+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5929",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WNT2B were set to ",
"entity_name": "WNT2B",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:49:22.511472+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WNT2B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WNT2B",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:49:02.944600+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WNT2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29909964; Phenotypes: Diarrhoea 9, MIM# 618168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WNT2B",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:48:17.112565+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WNT2B as ready",
"entity_name": "WNT2B",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:48:17.101666+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wnt2b has been classified as Green List (High Evidence).",
"entity_name": "WNT2B",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:48:13.985721+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WNT2B were changed from to Diarrhoea 9, MIM# 618168",
"entity_name": "WNT2B",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:47:45.512759+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WNT2B were set to ",
"entity_name": "WNT2B",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:47:18.190686+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WNT2B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WNT2B",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:46:46.364685+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WNT2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29909964; Phenotypes: Diarrhoea 9, MIM# 618168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WNT2B",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:42:39.270612+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STXBP2 as ready",
"entity_name": "STXBP2",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:42:39.256972+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stxbp2 has been classified as Green List (High Evidence).",
"entity_name": "STXBP2",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:42:34.298422+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: STXBP2 as Green List (high evidence)",
"entity_name": "STXBP2",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:42:34.290743+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stxbp2 has been classified as Green List (High Evidence).",
"entity_name": "STXBP2",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:42:05.720511+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STXBP2 was added\ngene: STXBP2 was added to Congenital Diarrhoea. Sources: Expert Review\nMode of inheritance for gene: STXBP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: STXBP2 were set to 23382066; 28724787; 29266534\nPhenotypes for gene: STXBP2 were set to Hemophagocytic lymphohistiocytosis, familial, 5, MIM#\t613101; Enteropathy\nReview for gene: STXBP2 was set to GREEN\nAdded comment: Variants in STXBP2 do not only affect cytotoxic T lymphocytes (causing HLH) but also cause changes in the intestinal epithelium resulting in severe, osmotic diarrhoea. More than 10 individuals reported with severe enteropathy, resembling MVID. \nSources: Expert Review",
"entity_name": "STXBP2",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:36:38.419917+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYO5B as ready",
"entity_name": "MYO5B",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:36:38.389507+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myo5b has been classified as Green List (High Evidence).",
"entity_name": "MYO5B",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:36:17.192685+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYO5B were changed from to Microvillus inclusion disease, MIM# 251850; Cholestasis",
"entity_name": "MYO5B",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:35:58.578150+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYO5B were set to ",
"entity_name": "MYO5B",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:35:38.202043+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5925",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MYO5B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MYO5B",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:35:19.623788+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5924",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYO5B: Rating: GREEN; Mode of pathogenicity: None; Publications: 30564347, 29266534, 28027573, 27532546; Phenotypes: Microvillus inclusion disease, MIM# 251850, Cholestasis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MYO5B",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:33:52.447174+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYO5B as ready",
"entity_name": "MYO5B",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:33:52.439183+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myo5b has been classified as Green List (High Evidence).",
"entity_name": "MYO5B",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:33:49.759488+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYO5B were changed from to Microvillus inclusion disease, MIM# 251850",
"entity_name": "MYO5B",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:33:22.907506+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYO5B were set to ",
"entity_name": "MYO5B",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:32:50.760021+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MYO5B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MYO5B",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:32:18.841606+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYO5B: Rating: GREEN; Mode of pathogenicity: None; Publications: 30564347, 29266534; Phenotypes: Microvillus inclusion disease, MIM# 251850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MYO5B",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:28:35.942987+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MTTP were changed from Abetalipoproteinemia, MIM# 200100 to Abetalipoproteinemia, MIM# 200100",
"entity_name": "MTTP",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:28:35.160499+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTTP as ready",
"entity_name": "MTTP",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:28:35.150926+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mttp has been classified as Green List (High Evidence).",
"entity_name": "MTTP",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:28:15.614763+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MTTP were changed from to Abetalipoproteinemia, MIM# 200100",
"entity_name": "MTTP",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:27:47.709917+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MTTP were set to ",
"entity_name": "MTTP",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:27:19.791051+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MTTP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTTP",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:26:49.740053+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MTTP: Rating: GREEN; Mode of pathogenicity: None; Publications: 17275380; Phenotypes: Abetalipoproteinemia, MIM# 200100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTTP",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:24:54.056413+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5924",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LCT as ready",
"entity_name": "LCT",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:24:54.048345+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5924",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lct has been classified as Green List (High Evidence).",
"entity_name": "LCT",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:24:46.546221+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5924",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LCT were changed from to Lactase deficiency, congenital, MIM# 223000",
"entity_name": "LCT",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:24:21.189586+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LCT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LCT",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:24:01.540647+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LCT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lactase deficiency, congenital, MIM# 223000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LCT",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:23:19.230682+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LCT as ready",
"entity_name": "LCT",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:23:19.220611+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lct has been classified as Green List (High Evidence).",
"entity_name": "LCT",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:23:12.922775+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LCT were changed from to Lactase deficiency, congenital, MIM# 223000",
"entity_name": "LCT",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:22:45.372086+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LCT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LCT",
"entity_type": "gene"
},
{
"created": "2021-01-05T10:22:15.592615+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LCT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lactase deficiency, congenital, MIM# 223000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LCT",
"entity_type": "gene"
},
{
"created": "2021-01-04T18:32:30.083450+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF2AK2 as ready",
"entity_name": "EIF2AK2",
"entity_type": "gene"
},
{
"created": "2021-01-04T18:32:30.072686+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2ak2 has been classified as Green List (High Evidence).",
"entity_name": "EIF2AK2",
"entity_type": "gene"
},
{
"created": "2021-01-04T18:30:28.979928+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBRSL1 as ready",
"entity_name": "FBRSL1",
"entity_type": "gene"
},
{
"created": "2021-01-04T18:30:28.968490+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbrsl1 has been classified as Green List (High Evidence).",
"entity_name": "FBRSL1",
"entity_type": "gene"
},
{
"created": "2021-01-04T18:30:16.492719+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBRSL1 as ready",
"entity_name": "FBRSL1",
"entity_type": "gene"
},
{
"created": "2021-01-04T18:30:16.481822+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbrsl1 has been classified as Green List (High Evidence).",
"entity_name": "FBRSL1",
"entity_type": "gene"
},
{
"created": "2021-01-04T18:29:48.186061+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBRSL1 as ready",
"entity_name": "FBRSL1",
"entity_type": "gene"
},
{
"created": "2021-01-04T18:29:48.178651+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbrsl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FBRSL1",
"entity_type": "gene"
},
{
"created": "2021-01-04T18:29:35.355074+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBRSL1 as ready",
"entity_name": "FBRSL1",
"entity_type": "gene"
},
{
"created": "2021-01-04T18:29:35.343341+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbrsl1 has been classified as Green List (High Evidence).",
"entity_name": "FBRSL1",
"entity_type": "gene"
},
{
"created": "2021-01-04T18:27:38.670861+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.995",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CAMK2B as ready",
"entity_name": "CAMK2B",
"entity_type": "gene"
},
{
"created": "2021-01-04T18:27:38.658519+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.995",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: camk2b has been classified as Green List (High Evidence).",
"entity_name": "CAMK2B",
"entity_type": "gene"
},
{
"created": "2021-01-04T18:27:33.672144+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.995",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CAMK2B as Green List (high evidence)",
"entity_name": "CAMK2B",
"entity_type": "gene"
},
{
"created": "2021-01-04T18:27:33.661077+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.995",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: camk2b has been classified as Green List (High Evidence).",
"entity_name": "CAMK2B",
"entity_type": "gene"
},
{
"created": "2021-01-04T18:27:01.995477+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CAMK2B was added\ngene: CAMK2B was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: CAMK2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CAMK2B were set to 29100089; 29560374; 32875707\nPhenotypes for gene: CAMK2B were set to Mental retardation, autosomal dominant 54, MIM# 617799\nReview for gene: CAMK2B was set to GREEN\nAdded comment: More than 10 unrelated individuals reported, at least 5 had seizures. \nSources: Expert Review",
"entity_name": "CAMK2B",
"entity_type": "gene"
},
{
"created": "2021-01-04T18:24:37.653165+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CAMK2B as ready",
"entity_name": "CAMK2B",
"entity_type": "gene"
},
{
"created": "2021-01-04T18:24:37.644131+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: camk2b has been classified as Green List (High Evidence).",
"entity_name": "CAMK2B",
"entity_type": "gene"
},
{
"created": "2021-01-04T18:24:32.752659+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CAMK2B were changed from to Mental retardation, autosomal dominant 54, MIM# 617799",
"entity_name": "CAMK2B",
"entity_type": "gene"
},
{
"created": "2021-01-04T18:24:02.945837+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CAMK2B were set to ",
"entity_name": "CAMK2B",
"entity_type": "gene"
},
{
"created": "2021-01-04T18:23:31.494950+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CAMK2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CAMK2B",
"entity_type": "gene"
},
{
"created": "2021-01-04T18:22:57.730503+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CAMK2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100089, 29560374, 32875707; Phenotypes: Mental retardation, autosomal dominant 54, MIM# 617799; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CAMK2B",
"entity_type": "gene"
},
{
"created": "2021-01-04T18:22:07.731182+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CAMK2B as ready",
"entity_name": "CAMK2B",
"entity_type": "gene"
},
{
"created": "2021-01-04T18:22:07.721923+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: camk2b has been classified as Green List (High Evidence).",
"entity_name": "CAMK2B",
"entity_type": "gene"
},
{
"created": "2021-01-04T18:22:00.648378+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CAMK2B were changed from to Mental retardation, autosomal dominant 54, MIM# 617799",
"entity_name": "CAMK2B",
"entity_type": "gene"
},
{
"created": "2021-01-04T18:21:41.550113+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5921",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CAMK2B were set to ",
"entity_name": "CAMK2B",
"entity_type": "gene"
},
{
"created": "2021-01-04T18:21:22.471115+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5920",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CAMK2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CAMK2B",
"entity_type": "gene"
},
{
"created": "2021-01-04T18:21:05.169792+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5919",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CAMK2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100089, 29560374, 32875707; Phenotypes: Mental retardation, autosomal dominant 54, MIM# 617799; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CAMK2B",
"entity_type": "gene"
},
{
"created": "2021-01-04T18:18:54.021036+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CAMK2B as ready",
"entity_name": "CAMK2B",
"entity_type": "gene"
},
{
"created": "2021-01-04T18:18:54.009999+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: camk2b has been classified as Green List (High Evidence).",
"entity_name": "CAMK2B",
"entity_type": "gene"
},
{
"created": "2021-01-04T18:18:50.491982+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CAMK2B were changed from microcephaly; intellectual disability; behavioural problems to Mental retardation, autosomal dominant 54, MIM#\t617799; microcephaly; intellectual disability; behavioural problems",
"entity_name": "CAMK2B",
"entity_type": "gene"
},
{
"created": "2021-01-04T18:18:03.152685+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CAMK2B as ready",
"entity_name": "CAMK2B",
"entity_type": "gene"
},
{
"created": "2021-01-04T18:18:03.137962+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: camk2b has been classified as Green List (High Evidence).",
"entity_name": "CAMK2B",
"entity_type": "gene"
},
{
"created": "2021-01-04T18:18:00.144540+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CAMK2B were changed from microcephaly; intellectual disability; behavioural problems to Mental retardation, autosomal dominant 54, MIM#\t617799; microcephaly; intellectual disability; behavioural problems",
"entity_name": "CAMK2B",
"entity_type": "gene"
},
{
"created": "2021-01-04T16:15:48.321639+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.3",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: LSM11: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 33230297; Phenotypes: type I interferonopathy Aicardi–Goutières syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "LSM11",
"entity_type": "gene"
},
{
"created": "2021-01-04T16:15:07.399799+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.3",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "LSM11",
"entity_type": "gene"
},
{
"created": "2021-01-04T16:14:30.881431+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.3",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "gene: LSM11 was added\ngene: LSM11 was added to Brain Calcification. Sources: Literature\nMode of inheritance for gene: LSM11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LSM11 were set to PMID: 33230297\nPhenotypes for gene: LSM11 were set to type I interferonopathy Aicardi–Goutières syndrome\ngene: LSM11 was marked as current diagnostic\nAdded comment: - Two affected siblings from a consanguineous family carrying a homozygous variant in LSM11\r\n- Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of\r\nreplication-dependent histone (RDH) mRNAs\r\n- Knockdown of LSM11 in THP-1 cells results in an increase in misprocessed RDH mRNA and\r\ninterferon signaling\r\n\r\n(added as Red as per discussion with Seb) \nSources: Literature",
"entity_name": "LSM11",
"entity_type": "gene"
},
{
"created": "2021-01-04T16:13:54.149763+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.3",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: RNU7-1 was added\ngene: RNU7-1 was added to Brain Calcification. Sources: Literature\nMode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNU7-1 were set to 33230297\nPhenotypes for gene: RNU7-1 were set to Aicardi–Goutières syndrome-like\nReview for gene: RNU7-1 was set to GREEN\ngene: RNU7-1 was marked as current diagnostic\nAdded comment: Review originally submitted by Ming Wong\r\n- 16 affected individuals from 11 families\r\n- Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of\r\nreplication-dependent histone (RDH) mRNAs \nSources: Literature",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2021-01-04T16:13:44.070909+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3368",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: RALGAPB was added\ngene: RALGAPB was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: RALGAPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RALGAPB were set to PMID: 32853829\nPhenotypes for gene: RALGAPB were set to Neurodevelopmental disorders, autism\nReview for gene: RALGAPB was set to RED\nAdded comment: PMID: 32853829 - Reviews previous publications and identifies 10 de novo variants (5 PTCs, 5 missense) in patients with ASD (7/10), epilepsy (2/10) and developmental delay (1/10). \nSources: Literature",
"entity_name": "RALGAPB",
"entity_type": "gene"
},
{
"created": "2021-01-04T16:13:20.621526+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.159",
"user_name": "Sue White",
"item_type": "entity",
"text": "Classified gene: RNU7-1 as Green List (high evidence)",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2021-01-04T16:13:20.609721+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.159",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: rnu7-1 has been classified as Green List (High Evidence).",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2021-01-04T16:12:10.109356+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.230",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "gene: LSM11 was added\ngene: LSM11 was added to Regression. Sources: Literature\nMode of inheritance for gene: LSM11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LSM11 were set to PMID: 33230297\nPhenotypes for gene: LSM11 were set to type I interferonopathy Aicardi–Goutières syndrome\nReview for gene: LSM11 was set to RED\ngene: LSM11 was marked as current diagnostic\nAdded comment: - Two affected siblings from a consanguineous family carrying a homozygous variant in LSM11\r\n- Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of\r\nreplication-dependent histone (RDH) mRNAs\r\n- Knockdown of LSM11 in THP-1 cells results in an increase in misprocessed RDH mRNA and\r\ninterferon signaling\r\n\r\n(added as Red as per discussion with Seb) \nSources: Literature",
"entity_name": "LSM11",
"entity_type": "gene"
},
{
"created": "2021-01-04T16:11:47.701448+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.230",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: RNU7-1 was added\ngene: RNU7-1 was added to Regression. Sources: Literature\nMode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNU7-1 were set to 33230297\nPhenotypes for gene: RNU7-1 were set to Aicardi–Goutières syndrome-like\ngene: RNU7-1 was marked as current diagnostic\nAdded comment: Review originally submitted by Ming Wong\r\n- 16 affected individuals from 11 families\r\n- Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of\r\nreplication-dependent histone (RDH) mRNAs \nSources: Literature",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2021-01-04T16:11:00.193693+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3368",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: RNU7-1 was added\ngene: RNU7-1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNU7-1 were set to 33230297\nPhenotypes for gene: RNU7-1 were set to Aicardi–Goutières syndrome-like\nReview for gene: RNU7-1 was set to GREEN\ngene: RNU7-1 was marked as current diagnostic\nAdded comment: Review originally submitted by Ming Wong\r\n- 16 affected individuals from 11 families\r\n- Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of\r\nreplication-dependent histone (RDH) mRNAs \nSources: Literature",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2021-01-04T16:10:09.449632+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3368",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "gene: LSM11 was added\ngene: LSM11 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: LSM11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LSM11 were set to PMID: 33230297\nPhenotypes for gene: LSM11 were set to type I interferonopathy Aicardi–Goutières syndrome\nReview for gene: LSM11 was set to RED\ngene: LSM11 was marked as current diagnostic\nAdded comment: - Two affected siblings from a consanguineous family carrying a homozygous variant in LSM11\r\n- Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of\r\nreplication-dependent histone (RDH) mRNAs\r\n- Knockdown of LSM11 in THP-1 cells results in an increase in misprocessed RDH mRNA and\r\ninterferon signaling\r\n\r\n(added as Red as per discussion with Seb) \nSources: Literature",
"entity_name": "LSM11",
"entity_type": "gene"
},
{
"created": "2021-01-04T16:10:03.164807+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.158",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: RNU7-1 was added\ngene: RNU7-1 was added to Dystonia - complex. Sources: Literature\nMode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNU7-1 were set to 33230297\nPhenotypes for gene: RNU7-1 were set to Aicardi–Goutières syndrome-like\nReview for gene: RNU7-1 was set to GREEN\ngene: RNU7-1 was marked as current diagnostic\nAdded comment: Review originally submitted by Ming Wong\r\n- 16 affected individuals from 11 families\r\n- Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of\r\nreplication-dependent histone (RDH) mRNAs \nSources: Literature",
"entity_name": "RNU7-1",
"entity_type": "gene"
},
{
"created": "2021-01-04T16:09:56.236913+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5919",
"user_name": "Sue White",
"item_type": "entity",
"text": "Classified gene: FBRSL1 as Green List (high evidence)",
"entity_name": "FBRSL1",
"entity_type": "gene"
},
{
"created": "2021-01-04T16:09:56.226429+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5919",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: fbrsl1 has been classified as Green List (High Evidence).",
"entity_name": "FBRSL1",
"entity_type": "gene"
},
{
"created": "2021-01-04T16:08:49.226949+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.90",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: RPL3L as ready",
"entity_name": "RPL3L",
"entity_type": "gene"
},
{
"created": "2021-01-04T16:08:49.219471+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.90",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: rpl3l has been classified as Green List (High Evidence).",
"entity_name": "RPL3L",
"entity_type": "gene"
},
{
"created": "2021-01-04T16:08:42.612649+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.90",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: RPL3L as Green List (high evidence)",
"entity_name": "RPL3L",
"entity_type": "gene"
},
{
"created": "2021-01-04T16:08:42.605112+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.90",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: rpl3l has been classified as Green List (High Evidence).",
"entity_name": "RPL3L",
"entity_type": "gene"
},
{
"created": "2021-01-04T16:08:18.752257+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.83",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "RPL3L",
"entity_type": "gene"
}
]
}