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{
"count": 220314,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1443",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1441",
"results": [
{
"created": "2021-01-16T21:07:47.380837+11:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBB3 were changed from to Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039",
"entity_name": "TUBB3",
"entity_type": "gene"
},
{
"created": "2021-01-16T21:07:12.350732+11:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUBB3 were set to ",
"entity_name": "TUBB3",
"entity_type": "gene"
},
{
"created": "2021-01-16T21:06:36.225115+11:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TUBB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB3",
"entity_type": "gene"
},
{
"created": "2021-01-16T21:06:06.395125+11:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20829227, 25059107, 33318778; Phenotypes: Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB3",
"entity_type": "gene"
},
{
"created": "2021-01-16T21:02:02.403813+11:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBB2B as ready",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2021-01-16T21:02:02.394337+11:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubb2b has been classified as Green List (High Evidence).",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2021-01-16T21:01:59.493949+11:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBB2B were changed from to Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2021-01-16T21:01:29.253200+11:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUBB2B were set to ",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2021-01-16T21:01:01.413592+11:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TUBB2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2021-01-16T21:00:29.106955+11:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TUBB2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 19465910, 22333901, 26732629, 33082561; Phenotypes: Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:56:55.582279+11:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBB as ready",
"entity_name": "TUBB",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:56:55.573671+11:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubb has been classified as Green List (High Evidence).",
"entity_name": "TUBB",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:56:52.802878+11:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBB were changed from to Cortical dysplasia, complex, with other brain malformations 6, MIM# 615771",
"entity_name": "TUBB",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:56:25.932518+11:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUBB were set to ",
"entity_name": "TUBB",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:55:58.115412+11:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TUBB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:55:27.786217+11:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TUBB: Rating: GREEN; Mode of pathogenicity: None; Publications: 23246003, 32085672; Phenotypes: Cortical dysplasia, complex, with other brain malformations 6, MIM# 615771; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:49:37.084551+11:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TUBA1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBA1A",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:49:05.491880+11:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TUBA1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 17218254, 17584854, 18728072; Phenotypes: Lissencephaly 3, MIM# 611603; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBA1A",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:46:08.709106+11:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Australian Genomics; Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-01-16T20:38:05.917858+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-01-16T20:35:59.251327+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6055",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FZD4 as ready",
"entity_name": "FZD4",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:35:59.238306+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6055",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fzd4 has been classified as Green List (High Evidence).",
"entity_name": "FZD4",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:35:52.322084+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6055",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FZD4 were changed from to Exudative vitreoretinopathy 1, MIM# 133780",
"entity_name": "FZD4",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:35:33.060615+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6054",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FZD4 were set to ",
"entity_name": "FZD4",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:35:15.307642+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FZD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FZD4",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:34:53.863909+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FZD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 21097938, 33302760, 31999491; Phenotypes: Exudative vitreoretinopathy 1, MIM# 133780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FZD4",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:34:16.016442+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FZD4 as ready",
"entity_name": "FZD4",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:34:16.008446+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fzd4 has been classified as Green List (High Evidence).",
"entity_name": "FZD4",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:34:14.034666+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FZD4 were changed from to Exudative vitreoretinopathy 1, MIM# 133780",
"entity_name": "FZD4",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:34:06.551001+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FZD4 were set to ",
"entity_name": "FZD4",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:33:58.879802+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FZD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FZD4",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:33:49.102886+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FZD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 21097938, 33302760, 31999491; Phenotypes: Exudative vitreoretinopathy 1, MIM# 133780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FZD4",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:31:37.948099+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNJ13 as ready",
"entity_name": "KCNJ13",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:31:37.937315+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj13 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KCNJ13",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:31:19.822791+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNJ13 were changed from to Snowflake vitreoretinal degeneration, MIM# 193230",
"entity_name": "KCNJ13",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:31:09.471263+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNJ13 were set to ",
"entity_name": "KCNJ13",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:30:48.716330+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNJ13 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KCNJ13",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:30:38.329160+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNJ13 as Amber List (moderate evidence)",
"entity_name": "KCNJ13",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:30:38.321356+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj13 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KCNJ13",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:30:29.063713+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNJ13: Rating: AMBER; Mode of pathogenicity: None; Publications: 18179896, 23255580, 31647904; Phenotypes: Snowflake vitreoretinal degeneration, MIM# 193230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KCNJ13",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:25:23.078271+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF11 as ready",
"entity_name": "KIF11",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:25:23.065879+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif11 has been classified as Green List (High Evidence).",
"entity_name": "KIF11",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:25:21.028468+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF11 were changed from to Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, MIM# 152950",
"entity_name": "KIF11",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:25:13.236816+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIF11 were set to ",
"entity_name": "KIF11",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:25:05.567565+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIF11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KIF11",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:24:55.566755+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KIF11: Rating: GREEN; Mode of pathogenicity: None; Publications: 22284827; Phenotypes: Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, MIM# 152950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KIF11",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:23:40.149586+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LRP5 as ready",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:23:40.141783+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrp5 has been classified as Green List (High Evidence).",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:23:28.508883+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LRP5 were changed from to Exudative vitreoretinopathy 4, MIM# 601813",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:23:19.471918+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LRP5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:23:09.307844+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LRP5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Exudative vitreoretinopathy 4, MIM# 601813; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:20:19.675094+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDP as ready",
"entity_name": "NDP",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:20:19.656282+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndp has been classified as Green List (High Evidence).",
"entity_name": "NDP",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:20:16.788159+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDP were changed from to Exudative vitreoretinopathy 2, X-linked, MIM# 305390; Norrie disease, MIM# 310600",
"entity_name": "NDP",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:20:00.970664+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDP was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NDP",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:19:49.808900+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NDP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Exudative vitreoretinopathy 2, X-linked, MIM# 305390, Norrie disease, MIM# 310600; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NDP",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:18:11.501226+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NR2E3 as ready",
"entity_name": "NR2E3",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:18:11.493560+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nr2e3 has been classified as Green List (High Evidence).",
"entity_name": "NR2E3",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:18:08.926688+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NR2E3 were changed from to Enhanced S-cone syndrome, MIM# 268100",
"entity_name": "NR2E3",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:17:55.984984+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NR2E3 were set to ",
"entity_name": "NR2E3",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:17:48.397613+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NR2E3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NR2E3",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:17:38.343452+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NR2E3: Rating: GREEN; Mode of pathogenicity: None; Publications: 10655056, 11071390, 18294254; Phenotypes: Enhanced S-cone syndrome 268100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NR2E3",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:14:47.285890+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSPAN12 as ready",
"entity_name": "TSPAN12",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:14:47.269342+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tspan12 has been classified as Green List (High Evidence).",
"entity_name": "TSPAN12",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:14:39.322954+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TSPAN12 were changed from to Exudative vitreoretinopathy 5, MIM# 613310",
"entity_name": "TSPAN12",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:14:21.603470+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6051",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TSPAN12 were set to ",
"entity_name": "TSPAN12",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:14:03.970462+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TSPAN12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TSPAN12",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:13:46.037150+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6049",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TSPAN12: Rating: GREEN; Mode of pathogenicity: None; Publications: 20159111, 20159112, 21334594; Phenotypes: Exudative vitreoretinopathy 5, MIM# 613310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TSPAN12",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:13:38.108850+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSPAN12 as ready",
"entity_name": "TSPAN12",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:13:38.098165+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tspan12 has been classified as Green List (High Evidence).",
"entity_name": "TSPAN12",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:13:33.063740+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TSPAN12 were changed from to Exudative vitreoretinopathy 5, MIM# 613310",
"entity_name": "TSPAN12",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:13:23.378795+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TSPAN12 were set to ",
"entity_name": "TSPAN12",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:13:16.758003+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TSPAN12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TSPAN12",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:12:43.783162+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TSPAN12: Rating: GREEN; Mode of pathogenicity: None; Publications: 20159111, 20159112, 21334594; Phenotypes: Exudative vitreoretinopathy 5, MIM# 613310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TSPAN12",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:10:42.857510+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTNNB1 as ready",
"entity_name": "CTNNB1",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:10:42.849649+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctnnb1 has been classified as Green List (High Evidence).",
"entity_name": "CTNNB1",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:10:39.042387+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CTNNB1 as Green List (high evidence)",
"entity_name": "CTNNB1",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:10:39.035001+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctnnb1 has been classified as Green List (High Evidence).",
"entity_name": "CTNNB1",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:10:29.247162+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTNNB1 was added\ngene: CTNNB1 was added to Syndromic Retinopathy. Sources: Expert Review\nMode of inheritance for gene: CTNNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CTNNB1 were set to 33350591\nPhenotypes for gene: CTNNB1 were set to Neurodevelopmental disorder with spastic diplegia and visual defects, MIM# 615075\nReview for gene: CTNNB1 was set to GREEN\nAdded comment: Multiple ocular defects reported in the context of this neurodevelopmental disorder, including vitreoretinopathy. \nSources: Expert Review",
"entity_name": "CTNNB1",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:08:04.856267+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTNNB1 as ready",
"entity_name": "CTNNB1",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:08:04.843366+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctnnb1 has been classified as Green List (High Evidence).",
"entity_name": "CTNNB1",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:08:02.205186+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CTNNB1 were changed from to Exudative vitreoretinopathy 7, MIM# 617572; Neurodevelopmental disorder with spastic diplegia and visual defects, MIM# 615075",
"entity_name": "CTNNB1",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:07:54.266502+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CTNNB1 were set to ",
"entity_name": "CTNNB1",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:07:46.077461+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CTNNB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CTNNB1",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:07:35.732521+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CTNNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28575650, 33350591, 32039639; Phenotypes: Exudative vitreoretinopathy 7, MIM# 617572, Neurodevelopmental disorder with spastic diplegia and visual defects, MIM# 615075; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CTNNB1",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:04:38.873329+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL18A1 as ready",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:04:38.865821+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col18a1 has been classified as Green List (High Evidence).",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:04:36.320413+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL18A1 were changed from to Knobloch syndrome, type 1, MIM# 267750",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:04:26.570853+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL18A1 were set to ",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:04:17.344623+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL18A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2021-01-16T20:04:07.233088+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL18A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27259167, 25456301; Phenotypes: Knobloch syndrome, type 1, MIM# 267750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2021-01-16T18:25:31.389284+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-01-16T18:25:05.701991+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TEK were set to ",
"entity_name": "TEK",
"entity_type": "gene"
},
{
"created": "2021-01-16T18:24:54.430669+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TEK: Rating: GREEN; Mode of pathogenicity: None; Publications: 19888299; Phenotypes: Venous malformations, multiple cutaneous and mucosal, MIM# 600195; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TEK",
"entity_type": "gene"
},
{
"created": "2021-01-16T18:23:21.861467+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMAD4 as ready",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2021-01-16T18:23:21.850176+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smad4 has been classified as Green List (High Evidence).",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2021-01-16T18:23:10.649301+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM# 175050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2021-01-16T18:22:20.404551+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTEN as ready",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2021-01-16T18:22:20.393574+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pten has been classified as Green List (High Evidence).",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2021-01-16T18:22:17.677794+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTEN were changed from Cowden syndrome; Bannayan-Riley-Ruvalcaba syndrome; Lhermitte-Duclos syndrome to Cowden syndrome 1, MIM# 158350; Bannayan-Riley-Ruvalcaba syndrome; Lhermitte-Duclos syndrome",
"entity_name": "PTEN",
"entity_type": "gene"
}
]
}