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{
"count": 220212,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1395",
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"results": [
{
"created": "2021-03-05T21:05:44.221094+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl27 has been classified as Red List (Low Evidence).",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2021-03-05T21:05:38.297288+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPL27 were changed from to Diamond-Blackfan anemia 16, MIM# 617408",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2021-03-05T21:05:10.527020+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPL27 were set to ",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2021-03-05T21:04:43.710531+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPL27 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2021-03-05T21:04:16.629448+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPL27 as Red List (low evidence)",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2021-03-05T21:04:16.621902+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl27 has been classified as Red List (Low Evidence).",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2021-03-05T21:03:47.528835+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RPL27: Rating: RED; Mode of pathogenicity: None; Publications: 25424902; Phenotypes: Diamond-Blackfan anemia 16, MIM# 617408; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2021-03-05T21:03:02.263549+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPL27 as ready",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2021-03-05T21:03:02.253482+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl27 has been classified as Red List (Low Evidence).",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2021-03-05T21:02:57.490952+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPL27 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2021-03-05T21:02:31.822846+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPL27 were set to ",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2021-03-05T21:02:05.318157+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPL27 were changed from to Diamond-Blackfan anemia 16, MIM# 617408",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2021-03-05T21:01:26.764409+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPL27 as Red List (low evidence)",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2021-03-05T21:01:26.755072+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl27 has been classified as Red List (Low Evidence).",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2021-03-05T21:01:06.520368+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPL27 as Red List (low evidence)",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2021-03-05T21:01:06.508229+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl27 has been classified as Red List (Low Evidence).",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2021-03-05T21:00:37.825167+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RPL27: Rating: RED; Mode of pathogenicity: None; Publications: 25424902; Phenotypes: Diamond-Blackfan anemia 16, MIM# 617408; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2021-03-05T20:56:48.066218+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPL11 as ready",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2021-03-05T20:56:48.058332+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl11 has been classified as Green List (High Evidence).",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2021-03-05T20:56:45.455937+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPL11 were changed from to Diamond-Blackfan anemia 7, MIM# 612562; MONDO:0012938",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2021-03-05T20:56:18.556587+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPL11 were set to ",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2021-03-05T20:55:51.918339+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPL11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2021-03-05T20:55:21.933535+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RPL11: Rating: GREEN; Mode of pathogenicity: None; Publications: 19061985; Phenotypes: Diamond-Blackfan anemia 7, MIM# 612562, MONDO:0012938; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2021-03-05T20:54:43.399485+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPL11 as ready",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2021-03-05T20:54:43.389946+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl11 has been classified as Green List (High Evidence).",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2021-03-05T20:54:35.329112+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPL11 were changed from to Diamond-Blackfan anemia 7, MIM# 612562; MONDO:0012938",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2021-03-05T20:54:13.877052+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPL11 were set to ",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2021-03-05T20:53:56.450885+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPL11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2021-03-05T20:53:37.737037+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RPL11: Rating: GREEN; Mode of pathogenicity: None; Publications: 19061985; Phenotypes: Diamond-Blackfan anemia 7, MIM# 612562, MONDO:0012938; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2021-03-05T20:52:19.865257+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPL11 as ready",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2021-03-05T20:52:19.857393+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl11 has been classified as Green List (High Evidence).",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2021-03-05T20:52:17.275604+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPL11 were changed from to Diamond-Blackfan anemia 7, MIM# 612562; MONDO:0012938",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2021-03-05T20:51:48.174868+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPL11 were set to ",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2021-03-05T20:51:19.466888+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPL11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2021-03-05T20:50:50.760165+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RPL11: Rating: GREEN; Mode of pathogenicity: None; Publications: 19061985; Phenotypes: Diamond-Blackfan anemia 7, MIM# 612562, MONDO:0012938; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2021-03-05T20:48:50.500690+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GATA1 as ready",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2021-03-05T20:48:50.484299+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gata1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2021-03-05T20:48:44.523272+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GATA1 were changed from to Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, MIM# 300367; Thrombocytopenia with beta-thalassemia, X-linked, MIM# 314050; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM# 300835",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2021-03-05T20:48:16.160987+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GATA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2021-03-05T20:47:48.320218+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GATA1 as Amber List (moderate evidence)",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2021-03-05T20:47:48.308717+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gata1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2021-03-05T20:47:19.735374+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GATA1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, MIM# 300367, Thrombocytopenia with beta-thalassemia, X-linked, MIM# 314050, Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM# 300835; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2021-03-05T20:45:45.758656+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADA2 as ready",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2021-03-05T20:45:45.750954+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ada2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2021-03-05T20:45:43.190864+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADA2 were changed from to Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, MIM# 615688",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2021-03-05T20:45:14.314640+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2021-03-05T20:44:47.321497+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADA2 as Amber List (moderate evidence)",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2021-03-05T20:44:47.313641+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ada2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2021-03-05T20:44:17.898036+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADA2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, MIM# 615688; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2021-03-05T18:41:02.432781+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-03-05T17:31:16.426139+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PSAP was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2021-03-05T17:30:57.242733+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PSAP: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2021-03-05T15:54:31.104083+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TTC7A were changed from Gastrointestinal defects and immunodeficiency syndrome, 243150 to Gastrointestinal defects and immunodeficiency syndrome, 243150; Very Early Onset Inflammatory Bowel Disease (VEOIBD)",
"entity_name": "TTC7A",
"entity_type": "gene"
},
{
"created": "2021-03-05T15:54:11.888174+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TTC7A were set to 30553809; 28936210",
"entity_name": "TTC7A",
"entity_type": "gene"
},
{
"created": "2021-03-05T15:53:46.035969+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TTC7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24417819, 24292712, 23830146, 29174094, 31743734; Phenotypes: Very Early Onset Inflammatory Bowel Disease (VEOIBD); Mode of inheritance: None",
"entity_name": "TTC7A",
"entity_type": "gene"
},
{
"created": "2021-03-05T15:52:30.014904+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TTC7A were changed from Gastrointestinal defects and immunodeficiency syndrome, 243150 to Gastrointestinal defects and immunodeficiency syndrome, 243150; Very Early Onset Inflammatory Bowel Disease (VEOIBD)",
"entity_name": "TTC7A",
"entity_type": "gene"
},
{
"created": "2021-03-05T15:52:06.721713+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TTC7A were set to 30553809; 28936210",
"entity_name": "TTC7A",
"entity_type": "gene"
},
{
"created": "2021-03-05T15:50:39.344909+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLCN4 as ready",
"entity_name": "CLCN4",
"entity_type": "gene"
},
{
"created": "2021-03-05T15:50:39.336639+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clcn4 has been classified as Green List (High Evidence).",
"entity_name": "CLCN4",
"entity_type": "gene"
},
{
"created": "2021-03-05T15:50:30.487828+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLCN4 were changed from to Raynaud-Claes syndrome, MIM#300114; intellectual disability; epilepsy; autistic features; mood disorders; cerebral white matter changes; progressive appendicular spasticity",
"entity_name": "CLCN4",
"entity_type": "gene"
},
{
"created": "2021-03-05T15:50:11.244265+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLCN4 were set to ",
"entity_name": "CLCN4",
"entity_type": "gene"
},
{
"created": "2021-03-05T15:49:52.422195+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLCN4 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "CLCN4",
"entity_type": "gene"
},
{
"created": "2021-03-05T15:49:26.901372+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLCN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 27550844; Phenotypes: Raynaud-Claes syndrome, MIM#300114, intellectual disability, epilepsy, autistic features, mood disorders, cerebral white matter changes, progressive appendicular spasticity; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "CLCN4",
"entity_type": "gene"
},
{
"created": "2021-03-05T15:46:27.177046+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLCN4 as ready",
"entity_name": "CLCN4",
"entity_type": "gene"
},
{
"created": "2021-03-05T15:46:27.158316+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clcn4 has been classified as Green List (High Evidence).",
"entity_name": "CLCN4",
"entity_type": "gene"
},
{
"created": "2021-03-05T15:31:48.914446+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLCN4 were changed from autism; intellectual disability; hypoplasia or agenesis of the corpus callosum; bipolar to Raynaud-Claes syndrome, MIM#\t300114; autism; intellectual disability; hypoplasia or agenesis of the corpus callosum; bipolar",
"entity_name": "CLCN4",
"entity_type": "gene"
},
{
"created": "2021-03-05T15:29:28.855778+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLCN4 as Green List (high evidence)",
"entity_name": "CLCN4",
"entity_type": "gene"
},
{
"created": "2021-03-05T15:29:28.847825+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clcn4 has been classified as Green List (High Evidence).",
"entity_name": "CLCN4",
"entity_type": "gene"
},
{
"created": "2021-03-05T12:55:32.345972+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIRREL1 were changed from Steroid-resistant nephrotic syndrome to Nephrotic syndrome, type 23, MIM# 619201",
"entity_name": "KIRREL1",
"entity_type": "gene"
},
{
"created": "2021-03-05T12:54:57.044304+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KIRREL1: Changed phenotypes: Nephrotic syndrome, type 23, MIM# 619201",
"entity_name": "KIRREL1",
"entity_type": "gene"
},
{
"created": "2021-03-05T12:54:34.863050+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIRREL1 were changed from Steroid-resistant nephrotic syndrome to Nephrotic syndrome, type 23, MIM#\t619201",
"entity_name": "KIRREL1",
"entity_type": "gene"
},
{
"created": "2021-03-05T12:54:11.827374+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KIRREL1: Changed phenotypes: Nephrotic syndrome, type 23, MIM# 619201",
"entity_name": "KIRREL1",
"entity_type": "gene"
},
{
"created": "2021-03-05T11:50:49.293750+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.129",
"user_name": "Elizabeth Palmer",
"item_type": "entity",
"text": "gene: CLCN4 was added\ngene: CLCN4 was added to Autism. Sources: Literature\nMode of inheritance for gene: CLCN4 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: CLCN4 were set to PMID: 27550844\nPhenotypes for gene: CLCN4 were set to autism; intellectual disability; hypoplasia or agenesis of the corpus callosum; bipolar\nPenetrance for gene: CLCN4 were set to Complete\nReview for gene: CLCN4 was set to GREEN\ngene: CLCN4 was marked as current diagnostic\nAdded comment: In PMID: 27550844 significant behavioral or mental health issues were noted in 19 (66%) males: hetero-aggressive behavior was reported in 8 males, auto-aggressive behavior in 3 males, repetitive autistic or obsessive–compulsive like behaviors in 7 males and hyperactivity in 3 males. \nSources: Literature",
"entity_name": "CLCN4",
"entity_type": "gene"
},
{
"created": "2021-03-05T10:18:27.670152+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EN1 were changed from ENDOVE syndrome, limb-only type, MIM# 619217 to ENDOVE syndrome, limb-only type, MIM# 619217; ENDOVE syndrome, limb-brain type, MIM# 619218",
"entity_name": "EN1",
"entity_type": "gene"
},
{
"created": "2021-03-05T10:13:28.369065+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Three unrelated families reported (though two shown to be related by descent) with predominantly a skeletal phenotype comprising mesomelic shortening and deformation of the lower limbs due to severe hypoplasia of the tibia and fibula. This was accompanied by abnormalities of the digits of the hands and feet, with cutaneous and osseous syndactyly as well as dysplastic, missing, and/or volar nails. In addition, genitourinary anomalies were observed in some. Homozygous deletions identified in all, with the minimal deleted region being a 27-kb interval (chr2: 118,561,492-118,589,320) located approximately 300 kb upstream of the EN1 gene. Mouse model recapitulated the phenotype. \nSources: Literature; to: Three unrelated families reported (though two shown to be related by descent) with predominantly a skeletal phenotype comprising mesomelic shortening and deformation of the lower limbs due to severe hypoplasia of the tibia and fibula. This was accompanied by abnormalities of the digits of the hands and feet, with cutaneous and osseous syndactyly as well as dysplastic, missing, and/or volar nails. In addition, genitourinary anomalies were observed in some. Homozygous deletions identified in all, with the minimal deleted region being a 27-kb interval (chr2: 118,561,492-118,589,320) located approximately 300 kb upstream of the EN1 gene. Mouse model recapitulated the phenotype.\r\n\r\nAn additional fourth individual had cerebellar hypoplasia in addition to the skeletal phenotype, and a bi-allelic LoF variant.\r\nSources: Literature",
"entity_name": "EN1",
"entity_type": "gene"
},
{
"created": "2021-03-05T10:13:10.544751+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EN1: Changed phenotypes: ENDOVE syndrome, limb-only type, MIM# 619217, ENDOVE syndrome, limb-brain type, MIM# 619218",
"entity_name": "EN1",
"entity_type": "gene"
},
{
"created": "2021-03-05T10:10:58.970196+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EN1 were changed from ENDOVE syndrome, limb-only type, MIM# 619217 to ENDOVE syndrome, limb-only type, MIM# 619217; ENDOVE syndrome, limb-brain type, MIM# 619218",
"entity_name": "EN1",
"entity_type": "gene"
},
{
"created": "2021-03-05T10:10:34.608108+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Three unrelated families reported (though two shown to be related by descent) with predominantly a skeletal phenotype comprising mesomelic shortening and deformation of the lower limbs due to severe hypoplasia of the tibia and fibula. This was accompanied by abnormalities of the digits of the hands and feet, with cutaneous and osseous syndactyly as well as dysplastic, missing, and/or volar nails. In addition, genitourinary anomalies were observed in some. Homozygous deletions identified in all, with the minimal deleted region being a 27-kb interval (chr2: 118,561,492-118,589,320) located approximately 300 kb upstream of the EN1 gene. Mouse model recapitulated the phenotype. \nSources: Literature; to: Three unrelated families reported (though two shown to be related by descent) with predominantly a skeletal phenotype comprising mesomelic shortening and deformation of the lower limbs due to severe hypoplasia of the tibia and fibula. This was accompanied by abnormalities of the digits of the hands and feet, with cutaneous and osseous syndactyly as well as dysplastic, missing, and/or volar nails. In addition, genitourinary anomalies were observed in some. Homozygous deletions identified in all, with the minimal deleted region being a 27-kb interval (chr2: 118,561,492-118,589,320) located approximately 300 kb upstream of the EN1 gene. Mouse model recapitulated the phenotype.\r\n\r\nAn additional fourth individual had cerebellar hypoplasia in addition to the skeletal phenotype, and a bi-allelic LoF variant.\r\nSources: Literature",
"entity_name": "EN1",
"entity_type": "gene"
},
{
"created": "2021-03-05T10:10:13.671488+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EN1: Changed phenotypes: ENDOVE syndrome, limb-only type, MIM# 619217, ENDOVE syndrome, limb-brain type, MIM# 619218",
"entity_name": "EN1",
"entity_type": "gene"
},
{
"created": "2021-03-05T10:08:46.063555+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.42",
"user_name": "Lavvina Thiyagarajan",
"item_type": "entity",
"text": "reviewed gene: TTC7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24417819, 24292712, 23830146, 29174094, 31743734; Phenotypes: Gastrointestinal defects and immunodeficiency syndrome, 243150, Very Early Onset Inflammatory Bowel Disease (VEOIBD); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTC7A",
"entity_type": "gene"
},
{
"created": "2021-03-05T10:07:30.572609+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EN1 were changed from ENDOVE syndrome, limb-only type, MIM#\t619217 to ENDOVE syndrome, limb-only type, MIM# 619217; ENDOVE syndrome, limb-brain type, MIM# 619218",
"entity_name": "EN1",
"entity_type": "gene"
},
{
"created": "2021-03-05T10:06:56.466667+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Three unrelated families reported (though two shown to be related by descent) with predominantly a skeletal phenotype comprising mesomelic shortening and deformation of the lower limbs due to severe hypoplasia of the tibia and fibula. This was accompanied by abnormalities of the digits of the hands and feet, with cutaneous and osseous syndactyly as well as dysplastic, missing, and/or volar nails. In addition, genitourinary anomalies were observed in some.\r\n\r\nHomozygous deletions identified in all, with the minimal deleted region being a 27-kb interval (chr2: 118,561,492-118,589,320) located approximately 300 kb upstream of the EN1 gene.\r\n\r\nMouse model recapitulated the phenotype. \nSources: Literature; to: Three unrelated families reported (though two shown to be related by descent) with predominantly a skeletal phenotype comprising mesomelic shortening and deformation of the lower limbs due to severe hypoplasia of the tibia and fibula. This was accompanied by abnormalities of the digits of the hands and feet, with cutaneous and osseous syndactyly as well as dysplastic, missing, and/or volar nails. In addition, genitourinary anomalies were observed in some.\r\n\r\nHomozygous deletions identified in all, with the minimal deleted region being a 27-kb interval (chr2: 118,561,492-118,589,320) located approximately 300 kb upstream of the EN1 gene.\r\n\r\nMouse model recapitulated the phenotype.\r\n\r\nAn additional fourth individual had cerebellar hypoplasia in addition to the skeletal phenotype, and a bi-allelic LoF variant.\r\nSources: Literature",
"entity_name": "EN1",
"entity_type": "gene"
},
{
"created": "2021-03-05T10:05:45.620707+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EN1: Changed phenotypes: ENDOVE syndrome, limb-only type, MIM# 619217, ENDOVE syndrome, limb-brain type, MIM# 619218",
"entity_name": "EN1",
"entity_type": "gene"
},
{
"created": "2021-03-05T10:03:11.544448+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.42",
"user_name": "Lavvina Thiyagarajan",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "TTC7A",
"entity_type": "gene"
},
{
"created": "2021-03-05T10:02:58.279652+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.42",
"user_name": "Lavvina Thiyagarajan",
"item_type": "entity",
"text": "reviewed gene: TTC7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24417819; Phenotypes: Gastrointestinal defects and immunodeficiency syndrome, 243150, Very Early Onset Inflammatory Bowel Disease (VEOIBD); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTC7A",
"entity_type": "gene"
},
{
"created": "2021-03-05T10:01:42.145627+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: EN1.\nTag 5'UTR tag was added to gene: EN1.",
"entity_name": "EN1",
"entity_type": "gene"
},
{
"created": "2021-03-05T10:01:22.446338+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EN1 as ready",
"entity_name": "EN1",
"entity_type": "gene"
},
{
"created": "2021-03-05T10:01:22.437340+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: en1 has been classified as Green List (High Evidence).",
"entity_name": "EN1",
"entity_type": "gene"
},
{
"created": "2021-03-05T10:01:18.829829+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EN1 as Green List (high evidence)",
"entity_name": "EN1",
"entity_type": "gene"
},
{
"created": "2021-03-05T10:01:18.819461+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: en1 has been classified as Green List (High Evidence).",
"entity_name": "EN1",
"entity_type": "gene"
},
{
"created": "2021-03-05T10:00:47.055212+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EN1 was added\ngene: EN1 was added to Skeletal Dysplasia_Fetal. Sources: Literature\nSV/CNV, 5'UTR tags were added to gene: EN1.\nMode of inheritance for gene: EN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EN1 were set to 33568816\nPhenotypes for gene: EN1 were set to ENDOVE syndrome, limb-only type, MIM# 619217\nReview for gene: EN1 was set to GREEN\nAdded comment: Three unrelated families reported (though two shown to be related by descent) with predominantly a skeletal phenotype comprising mesomelic shortening and deformation of the lower limbs due to severe hypoplasia of the tibia and fibula. This was accompanied by abnormalities of the digits of the hands and feet, with cutaneous and osseous syndactyly as well as dysplastic, missing, and/or volar nails. In addition, genitourinary anomalies were observed in some. Homozygous deletions identified in all, with the minimal deleted region being a 27-kb interval (chr2: 118,561,492-118,589,320) located approximately 300 kb upstream of the EN1 gene. Mouse model recapitulated the phenotype. \nSources: Literature",
"entity_name": "EN1",
"entity_type": "gene"
},
{
"created": "2021-03-05T09:58:18.340084+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EN1 as ready",
"entity_name": "EN1",
"entity_type": "gene"
},
{
"created": "2021-03-05T09:58:18.327884+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: en1 has been classified as Green List (High Evidence).",
"entity_name": "EN1",
"entity_type": "gene"
},
{
"created": "2021-03-05T09:58:07.792393+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EN1 as Green List (high evidence)",
"entity_name": "EN1",
"entity_type": "gene"
},
{
"created": "2021-03-05T09:58:07.781922+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: en1 has been classified as Green List (High Evidence).",
"entity_name": "EN1",
"entity_type": "gene"
},
{
"created": "2021-03-05T09:57:50.415217+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EN1 was added\ngene: EN1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: EN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EN1 were set to 33568816\nPhenotypes for gene: EN1 were set to ENDOVE syndrome, limb-only type, MIM# 619217\nReview for gene: EN1 was set to GREEN\nAdded comment: Three unrelated families reported (though two shown to be related by descent) with predominantly a skeletal phenotype comprising mesomelic shortening and deformation of the lower limbs due to severe hypoplasia of the tibia and fibula. This was accompanied by abnormalities of the digits of the hands and feet, with cutaneous and osseous syndactyly as well as dysplastic, missing, and/or volar nails. In addition, genitourinary anomalies were observed in some. Homozygous deletions identified in all, with the minimal deleted region being a 27-kb interval (chr2: 118,561,492-118,589,320) located approximately 300 kb upstream of the EN1 gene. Mouse model recapitulated the phenotype. \nSources: Literature",
"entity_name": "EN1",
"entity_type": "gene"
},
{
"created": "2021-03-05T09:56:08.607150+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EN1 as ready",
"entity_name": "EN1",
"entity_type": "gene"
},
{
"created": "2021-03-05T09:56:08.596281+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: en1 has been classified as Green List (High Evidence).",
"entity_name": "EN1",
"entity_type": "gene"
},
{
"created": "2021-03-05T09:56:03.562337+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EN1 as Green List (high evidence)",
"entity_name": "EN1",
"entity_type": "gene"
},
{
"created": "2021-03-05T09:56:03.551508+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: en1 has been classified as Green List (High Evidence).",
"entity_name": "EN1",
"entity_type": "gene"
}
]
}