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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1746",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1744",
"results": [
{
"created": "2020-07-03T20:36:06.305651+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MRAS: Changed rating: GREEN; Changed publications: 28289718, 31173466, 31108500",
"entity_name": "MRAS",
"entity_type": "gene"
},
{
"created": "2020-07-03T20:31:43.531230+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MRAS was added\ngene: MRAS was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: MRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MRAS were set to 28289718\nPhenotypes for gene: MRAS were set to Noonan syndrome\nReview for gene: MRAS was set to AMBER\nAdded comment: Two unrelated individuals reported with de novo variants in this gene. Rated as LIMITED by ClinGen. \nSources: Expert list",
"entity_name": "MRAS",
"entity_type": "gene"
},
{
"created": "2020-07-03T20:31:40.879404+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MRAS as ready",
"entity_name": "MRAS",
"entity_type": "gene"
},
{
"created": "2020-07-03T20:31:40.866999+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mras has been classified as Amber List (Moderate Evidence).",
"entity_name": "MRAS",
"entity_type": "gene"
},
{
"created": "2020-07-03T20:31:12.618767+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MRAS as Amber List (moderate evidence)",
"entity_name": "MRAS",
"entity_type": "gene"
},
{
"created": "2020-07-03T20:31:12.609663+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mras has been classified as Amber List (Moderate Evidence).",
"entity_name": "MRAS",
"entity_type": "gene"
},
{
"created": "2020-07-03T20:30:03.640933+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MRAS was added\ngene: MRAS was added to Rasopathy. Sources: Expert list\nMode of inheritance for gene: MRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MRAS were set to 28289718\nPhenotypes for gene: MRAS were set to Noonan syndrome\nReview for gene: MRAS was set to AMBER\nAdded comment: Two unrelated individuals reported with de novo variants in this gene. Rated as LIMITED by ClinGen. \nSources: Expert list",
"entity_name": "MRAS",
"entity_type": "gene"
},
{
"created": "2020-07-03T20:12:49.327218+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RRAS as ready",
"entity_name": "RRAS",
"entity_type": "gene"
},
{
"created": "2020-07-03T20:12:49.317301+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rras has been classified as Amber List (Moderate Evidence).",
"entity_name": "RRAS",
"entity_type": "gene"
},
{
"created": "2020-07-03T20:11:59.508597+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RRAS were changed from to Noonan syndrome",
"entity_name": "RRAS",
"entity_type": "gene"
},
{
"created": "2020-07-03T20:11:36.712153+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RRAS were set to ",
"entity_name": "RRAS",
"entity_type": "gene"
},
{
"created": "2020-07-03T20:11:11.404408+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RRAS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RRAS",
"entity_type": "gene"
},
{
"created": "2020-07-03T20:10:27.290739+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RRAS as Amber List (moderate evidence)",
"entity_name": "RRAS",
"entity_type": "gene"
},
{
"created": "2020-07-03T20:10:27.276874+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rras has been classified as Amber List (Moderate Evidence).",
"entity_name": "RRAS",
"entity_type": "gene"
},
{
"created": "2020-07-03T20:09:57.240195+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RRAS: Rating: AMBER; Mode of pathogenicity: None; Publications: 24705357; Phenotypes: Noonan syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RRAS",
"entity_type": "gene"
},
{
"created": "2020-07-03T20:06:29.296307+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.22",
"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": "2020-07-03T20:06:10.508957+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: A2ML1 as ready",
"entity_name": "A2ML1",
"entity_type": "gene"
},
{
"created": "2020-07-03T20:06:10.498003+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: a2ml1 has been classified as Red List (Low Evidence).",
"entity_name": "A2ML1",
"entity_type": "gene"
},
{
"created": "2020-07-03T20:05:39.360390+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: A2ML1 were changed from to Noonan syndrome",
"entity_name": "A2ML1",
"entity_type": "gene"
},
{
"created": "2020-07-03T20:05:17.978702+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: A2ML1 were set to ",
"entity_name": "A2ML1",
"entity_type": "gene"
},
{
"created": "2020-07-03T20:04:52.882607+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: A2ML1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "A2ML1",
"entity_type": "gene"
},
{
"created": "2020-07-03T20:04:32.388075+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: A2ML1 as Red List (low evidence)",
"entity_name": "A2ML1",
"entity_type": "gene"
},
{
"created": "2020-07-03T20:04:32.379167+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: a2ml1 has been classified as Red List (Low Evidence).",
"entity_name": "A2ML1",
"entity_type": "gene"
},
{
"created": "2020-07-03T20:04:10.226000+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: A2ML1: Rating: RED; Mode of pathogenicity: None; Publications: 24939586, 25862627; Phenotypes: Noonan syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "A2ML1",
"entity_type": "gene"
},
{
"created": "2020-07-03T20:02:11.102631+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: A2ML1 as ready",
"entity_name": "A2ML1",
"entity_type": "gene"
},
{
"created": "2020-07-03T20:02:11.087899+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: a2ml1 has been classified as Red List (Low Evidence).",
"entity_name": "A2ML1",
"entity_type": "gene"
},
{
"created": "2020-07-03T20:02:07.822035+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: A2ML1 were changed from to Noonan syndrome",
"entity_name": "A2ML1",
"entity_type": "gene"
},
{
"created": "2020-07-03T20:01:42.483430+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: A2ML1 were set to ",
"entity_name": "A2ML1",
"entity_type": "gene"
},
{
"created": "2020-07-03T20:01:11.673289+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: A2ML1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "A2ML1",
"entity_type": "gene"
},
{
"created": "2020-07-03T20:00:48.251555+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: A2ML1 as Red List (low evidence)",
"entity_name": "A2ML1",
"entity_type": "gene"
},
{
"created": "2020-07-03T20:00:48.241800+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: a2ml1 has been classified as Red List (Low Evidence).",
"entity_name": "A2ML1",
"entity_type": "gene"
},
{
"created": "2020-07-03T20:00:27.392728+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: A2ML1 as Red List (low evidence)",
"entity_name": "A2ML1",
"entity_type": "gene"
},
{
"created": "2020-07-03T20:00:27.370916+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: a2ml1 has been classified as Red List (Low Evidence).",
"entity_name": "A2ML1",
"entity_type": "gene"
},
{
"created": "2020-07-03T20:00:06.061868+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: A2ML1 as Red List (low evidence)",
"entity_name": "A2ML1",
"entity_type": "gene"
},
{
"created": "2020-07-03T20:00:06.022273+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: a2ml1 has been classified as Red List (Low Evidence).",
"entity_name": "A2ML1",
"entity_type": "gene"
},
{
"created": "2020-07-03T19:59:36.883617+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: A2ML1: Rating: RED; Mode of pathogenicity: None; Publications: 24939586, 25862627; Phenotypes: Noonan syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "A2ML1",
"entity_type": "gene"
},
{
"created": "2020-07-03T19:58:42.999649+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: A2ML1 as ready",
"entity_name": "A2ML1",
"entity_type": "gene"
},
{
"created": "2020-07-03T19:58:42.990060+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: a2ml1 has been classified as Red List (Low Evidence).",
"entity_name": "A2ML1",
"entity_type": "gene"
},
{
"created": "2020-07-03T19:58:40.641738+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: A2ML1 were changed from to Noonan syndrome",
"entity_name": "A2ML1",
"entity_type": "gene"
},
{
"created": "2020-07-03T19:58:14.252973+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: A2ML1 were set to ",
"entity_name": "A2ML1",
"entity_type": "gene"
},
{
"created": "2020-07-03T19:57:43.173940+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: A2ML1: Changed publications: 24939586, 25862627",
"entity_name": "A2ML1",
"entity_type": "gene"
},
{
"created": "2020-07-03T19:57:26.065981+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: A2ML1: Changed publications: 24939586",
"entity_name": "A2ML1",
"entity_type": "gene"
},
{
"created": "2020-07-03T19:57:16.240150+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: A2ML1 as Red List (low evidence)",
"entity_name": "A2ML1",
"entity_type": "gene"
},
{
"created": "2020-07-03T19:57:16.231298+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: a2ml1 has been classified as Red List (Low Evidence).",
"entity_name": "A2ML1",
"entity_type": "gene"
},
{
"created": "2020-07-03T19:56:47.101531+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: A2ML1.",
"entity_name": "A2ML1",
"entity_type": "gene"
},
{
"created": "2020-07-03T19:56:17.144965+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: A2ML1: Changed rating: RED",
"entity_name": "A2ML1",
"entity_type": "gene"
},
{
"created": "2020-07-03T19:56:11.357205+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Three unrelated individuals reported with de novo missense variants in this gene, zebrafish model.; to: Four unrelated individuals reported with de novo missense variants in this gene, zebrafish model. However, p.Arg802His is present in 168 heterozygotes in gnomad and one homozygote; p.Arg802Leu is also present in 168 heterozygotes, 1 homozygote; and p.Arg592Leu is present in 105 heterozygotes. Rated as DISPUTED by ClinGen.",
"entity_name": "A2ML1",
"entity_type": "gene"
},
{
"created": "2020-07-03T19:52:14.394003+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: A2ML1: Changed rating: AMBER; Changed publications: 25862627",
"entity_name": "A2ML1",
"entity_type": "gene"
},
{
"created": "2020-07-03T19:51:03.265172+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: A2ML1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "A2ML1",
"entity_type": "gene"
},
{
"created": "2020-07-03T19:50:32.190751+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: A2ML1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24939586; Phenotypes: Noonan syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "A2ML1",
"entity_type": "gene"
},
{
"created": "2020-07-03T18:33:59.343175+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTB as ready",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2020-07-03T18:33:59.329352+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actb has been classified as Green List (High Evidence).",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2020-07-03T18:33:56.168211+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACTB were changed from to Baraitser-Winter syndrome 1, MIM# 243310",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2020-07-03T18:33:21.954128+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACTB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2020-07-03T18:32:27.823993+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTG1 as ready",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2020-07-03T18:32:27.811341+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actg1 has been classified as Green List (High Evidence).",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2020-07-03T18:32:24.841366+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACTG1 were changed from to Baraitser-Winter syndrome 2, MIM# 614583",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2020-07-03T18:31:56.577599+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACTG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2020-07-03T18:30:48.940777+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MASP1 as ready",
"entity_name": "MASP1",
"entity_type": "gene"
},
{
"created": "2020-07-03T18:30:48.924805+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: masp1 has been classified as Green List (High Evidence).",
"entity_name": "MASP1",
"entity_type": "gene"
},
{
"created": "2020-07-03T18:27:21.331369+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SKI as ready",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2020-07-03T18:27:21.317499+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ski has been classified as Green List (High Evidence).",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2020-07-03T18:25:58.050531+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TLK2 as ready",
"entity_name": "TLK2",
"entity_type": "gene"
},
{
"created": "2020-07-03T18:25:58.040223+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tlk2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TLK2",
"entity_type": "gene"
},
{
"created": "2020-07-03T18:25:55.810777+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TLK2 were changed from to Mental retardation, autosomal dominant 57, MIM#618050",
"entity_name": "TLK2",
"entity_type": "gene"
},
{
"created": "2020-07-03T18:25:32.663880+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TLK2 were set to ",
"entity_name": "TLK2",
"entity_type": "gene"
},
{
"created": "2020-07-03T18:25:06.638162+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TLK2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TLK2",
"entity_type": "gene"
},
{
"created": "2020-07-03T18:24:40.769684+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TLK2 as Amber List (moderate evidence)",
"entity_name": "TLK2",
"entity_type": "gene"
},
{
"created": "2020-07-03T18:24:40.760458+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tlk2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TLK2",
"entity_type": "gene"
},
{
"created": "2020-07-03T17:19:33.921384+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: TMEM70: Changed rating: AMBER",
"entity_name": "TMEM70",
"entity_type": "gene"
},
{
"created": "2020-07-03T17:19:25.605662+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TMEM70 was added\ngene: TMEM70 was added to Gastrointestinal neuromuscular disease. Sources: NHS GMS\nMode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM70 were set to 21147908\nPhenotypes for gene: TMEM70 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 MIM#614052\nReview for gene: TMEM70 was set to RED\nAdded comment: Intestinal pseudo-obstruction reported in one case and delayed gastric emptying reported in another case. Gastrointestinal neuromuscular disease does not appear to be a prominent feature of the condition. \nSources: NHS GMS",
"entity_name": "TMEM70",
"entity_type": "gene"
},
{
"created": "2020-07-03T16:38:49.541780+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ATRX as ready",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2020-07-03T16:38:49.522213+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atrx has been classified as Green List (High Evidence).",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2020-07-03T16:38:44.653364+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ATRX as Green List (high evidence)",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2020-07-03T16:38:44.644073+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atrx has been classified as Green List (High Evidence).",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2020-07-03T16:38:37.632058+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATRX was added\ngene: ATRX was added to Gastrointestinal neuromuscular disease. Sources: NHS GMS\nMode of inheritance for gene: ATRX 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: ATRX were set to 16688741\nPhenotypes for gene: ATRX were set to Alpha-thalassemia/mental retardation syndrome MIM#301040\nReview for gene: ATRX was set to GREEN\nAdded comment: Gastrointestinal problems can be a prominent feature of the condition. \nSources: NHS GMS",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2020-07-03T16:06:20.304598+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: LMOD1 as ready",
"entity_name": "LMOD1",
"entity_type": "gene"
},
{
"created": "2020-07-03T16:06:20.294327+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lmod1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LMOD1",
"entity_type": "gene"
},
{
"created": "2020-07-03T16:06:13.837247+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: LMOD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28292896; Phenotypes: Megacystis microcolon intestinal hypoperistalsis syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LMOD1",
"entity_type": "gene"
},
{
"created": "2020-07-03T16:03:26.669398+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MYL9 as ready",
"entity_name": "MYL9",
"entity_type": "gene"
},
{
"created": "2020-07-03T16:03:26.659791+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: myl9 has been classified as Red List (Low Evidence).",
"entity_name": "MYL9",
"entity_type": "gene"
},
{
"created": "2020-07-03T16:03:19.917017+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MYL9 was added\ngene: MYL9 was added to Gastrointestinal neuromuscular disease. Sources: Literature\nMode of inheritance for gene: MYL9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYL9 were set to 29453416\nPhenotypes for gene: MYL9 were set to Megacystis-microcolon-intestinal hypoperistalsis syndrome\nReview for gene: MYL9 was set to RED\nAdded comment: Single consanguineous family reported with a homozygous deletion including the last exon of the gene. No functional evidence. \nSources: Literature",
"entity_name": "MYL9",
"entity_type": "gene"
},
{
"created": "2020-07-03T15:59:50.052352+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMCO1 as ready",
"entity_name": "TMCO1",
"entity_type": "gene"
},
{
"created": "2020-07-03T15:59:50.040907+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmco1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TMCO1",
"entity_type": "gene"
},
{
"created": "2020-07-03T15:59:45.773420+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMCO1 as Amber List (moderate evidence)",
"entity_name": "TMCO1",
"entity_type": "gene"
},
{
"created": "2020-07-03T15:59:45.764544+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmco1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TMCO1",
"entity_type": "gene"
},
{
"created": "2020-07-03T15:59:17.039500+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMCO1 was added\ngene: TMCO1 was added to Craniosynostosis. Sources: Expert list\nMode of inheritance for gene: TMCO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMCO1 were set to 20018682; 24424126; 24194475\nPhenotypes for gene: TMCO1 were set to Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, MIM#\t213980\nReview for gene: TMCO1 was set to AMBER\nAdded comment: Craniosynostosis reported in a small number of affected individuals, also note founder mutation in Amish. \nSources: Expert list",
"entity_name": "TMCO1",
"entity_type": "gene"
},
{
"created": "2020-07-03T15:56:10.076903+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TFAP2B as ready",
"entity_name": "TFAP2B",
"entity_type": "gene"
},
{
"created": "2020-07-03T15:56:10.067036+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tfap2b has been classified as Green List (High Evidence).",
"entity_name": "TFAP2B",
"entity_type": "gene"
},
{
"created": "2020-07-03T15:56:06.422038+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TFAP2B as Green List (high evidence)",
"entity_name": "TFAP2B",
"entity_type": "gene"
},
{
"created": "2020-07-03T15:56:06.412808+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tfap2b has been classified as Green List (High Evidence).",
"entity_name": "TFAP2B",
"entity_type": "gene"
},
{
"created": "2020-07-03T15:55:36.994494+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TFAP2B was added\ngene: TFAP2B was added to Craniosynostosis. Sources: Expert list\nMode of inheritance for gene: TFAP2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TFAP2B were set to 31292255\nPhenotypes for gene: TFAP2B were set to Syndromic craniosynostosis\nReview for gene: TFAP2B was set to GREEN\nAdded comment: Four individuals reported in PMID: 31292255 (Correction in PMID: 31405973) as part of a craniosynostosis cohort: 2 de novo and 2 inherited. There is evidence for reduced penetrance as in one case the variant was inherited from an unaffected parent (affected parent for the other inherited variant). \nSources: Expert list",
"entity_name": "TFAP2B",
"entity_type": "gene"
},
{
"created": "2020-07-03T15:45:04.972192+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RET as Green List (high evidence)",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2020-07-03T15:45:04.957684+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ret has been classified as Green List (High Evidence).",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2020-07-03T15:41:29.157781+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SEMA3D as ready",
"entity_name": "SEMA3D",
"entity_type": "gene"
},
{
"created": "2020-07-03T15:41:29.144517+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sema3d has been classified as Red List (Low Evidence).",
"entity_name": "SEMA3D",
"entity_type": "gene"
},
{
"created": "2020-07-03T15:41:22.996190+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SEMA3D was added\ngene: SEMA3D was added to Gastrointestinal neuromuscular disease. Sources: Expert list\nMode of inheritance for gene: SEMA3D was set to Unknown\nPublications for gene: SEMA3D were set to 28334784; 25839327\nPhenotypes for gene: SEMA3D were set to Hirschsprung disease\nReview for gene: SEMA3D was set to RED\nAdded comment: Reported as a common susceptibility loci. No reported evidence for an association with Mendelian disease. Sema3d null heterozygote and homozygote mouse model had normal intestinal innervation. \nSources: Expert list",
"entity_name": "SEMA3D",
"entity_type": "gene"
},
{
"created": "2020-07-03T15:31:26.101706+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: SEMA3C: Changed publications: 25839327, 31240788",
"entity_name": "SEMA3C",
"entity_type": "gene"
},
{
"created": "2020-07-03T15:29:24.289064+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SEMA3C as ready",
"entity_name": "SEMA3C",
"entity_type": "gene"
},
{
"created": "2020-07-03T15:29:24.276113+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sema3c has been classified as Red List (Low Evidence).",
"entity_name": "SEMA3C",
"entity_type": "gene"
}
]
}