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{
"count": 221284,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1050",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1048",
"results": [
{
"created": "2022-01-13T18:21:38.219119+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde4d has been classified as Green List (High Evidence).",
"entity_name": "PDE4D",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:21:34.839375+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDE4D were changed from ACRODYSOSTOSIS to Acrodysostosis 2, with or without hormone resistance, MIM# 614613",
"entity_name": "PDE4D",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:21:15.511739+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2072",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDE4D was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDE4D",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:21:03.232917+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PDE4D: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acrodysostosis 2, with or without hormone resistance, MIM# 614613; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDE4D",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:19:04.425768+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDCD10 as ready",
"entity_name": "PDCD10",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:19:04.404552+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdcd10 has been classified as Green List (High Evidence).",
"entity_name": "PDCD10",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:18:57.209752+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDCD10 were changed from to Cerebral cavernous malformations 3 MIM#603285",
"entity_name": "PDCD10",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:18:39.810510+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDCD10 were set to ",
"entity_name": "PDCD10",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:17:17.425330+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDCD10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDCD10",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:16:59.042263+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10624",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PDCD10: Rating: GREEN; Mode of pathogenicity: None; Publications: 30356112, 15543491; Phenotypes: Cerebral cavernous malformations 3 MIM#603285; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDCD10",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:16:44.176181+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PDCD10: Changed publications: 30356112, 15543491",
"entity_name": "PDCD10",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:15:50.220271+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDCD10 as ready",
"entity_name": "PDCD10",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:15:50.209912+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdcd10 has been classified as Green List (High Evidence).",
"entity_name": "PDCD10",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:15:46.196312+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDCD10 were changed from CEREBRAL CAVERNOUS MALFORMATIONS TYPE 3 to Cerebral cavernous malformations 3 MIM#603285",
"entity_name": "PDCD10",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:15:34.282341+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDCD10 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDCD10",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:15:22.578674+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PDCD10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral cavernous malformations 3 MIM#603285; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDCD10",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:13:54.952003+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCYT1A as ready",
"entity_name": "PCYT1A",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:13:54.940860+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcyt1a has been classified as Red List (Low Evidence).",
"entity_name": "PCYT1A",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:13:51.185982+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PCYT1A were changed from SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY to Spondylometaphyseal dysplasia with cone-rod dystrophy, MIM# 608940",
"entity_name": "PCYT1A",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:13:38.232197+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PCYT1A as Red List (low evidence)",
"entity_name": "PCYT1A",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:13:38.219967+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcyt1a has been classified as Red List (Low Evidence).",
"entity_name": "PCYT1A",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:13:27.227997+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2067",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PCYT1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondylometaphyseal dysplasia with cone-rod dystrophy, MIM# 608940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCYT1A",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:11:12.160392+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2067",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LHX3 as ready",
"entity_name": "LHX3",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:11:12.149980+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2067",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lhx3 has been classified as Red List (Low Evidence).",
"entity_name": "LHX3",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:11:03.516393+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2067",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LHX3 were changed from PITUITARY HORMONE DEFICIENCY COMBINED TYPE 3 to Pituitary hormone deficiency, combined, 3 (MIM#221750)",
"entity_name": "LHX3",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:10:50.369546+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2066",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LHX3 were set to ",
"entity_name": "LHX3",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:10:37.630270+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2065",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LHX3 as Red List (low evidence)",
"entity_name": "LHX3",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:10:37.618259+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2065",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lhx3 has been classified as Red List (Low Evidence).",
"entity_name": "LHX3",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:10:25.819038+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LHX3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 3 (MIM#221750); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LHX3",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:09:02.361384+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10624",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LGI4 as ready",
"entity_name": "LGI4",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:09:02.350856+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10624",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lgi4 has been classified as Green List (High Evidence).",
"entity_name": "LGI4",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:08:56.051770+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LGI4: Changed publications: 28318499, 34288120",
"entity_name": "LGI4",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:08:53.893656+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10624",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LGI4 were changed from to Arthrogryposis multiplex congenita, neurogenic, with myelin defect, MIM#617468",
"entity_name": "LGI4",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:08:41.010957+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LGI4 were set to ",
"entity_name": "LGI4",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:08:32.556223+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LGI4 were set to ",
"entity_name": "LGI4",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:08:19.509039+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LGI4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LGI4",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:08:01.825361+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LGI4: Rating: GREEN; Mode of pathogenicity: None; Publications: 28318499, 34288120; Phenotypes: Arthrogryposis multiplex congenita, neurogenic, with myelin defect, MIM#617468; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LGI4",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:06:24.353659+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LGI4 as ready",
"entity_name": "LGI4",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:06:24.343022+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lgi4 has been classified as Green List (High Evidence).",
"entity_name": "LGI4",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:06:20.714700+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LGI4 were changed from ARTHROGRYPOSIS MULTIPLEX CONGENITA to Arthrogryposis multiplex congenita, neurogenic, with myelin defect, MIM#617468",
"entity_name": "LGI4",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:06:05.889147+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Severe AMC, most affected individuals die in utero or in newborn period; unclear if ID is truly part of the phenotype.; to: Severe AMC, most affected individuals die in utero or in newborn period.",
"entity_name": "LGI4",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:05:56.661680+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LGI4: Changed rating: GREEN",
"entity_name": "LGI4",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:05:28.104186+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LFNG as ready",
"entity_name": "LFNG",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:05:28.089741+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lfng has been classified as Green List (High Evidence).",
"entity_name": "LFNG",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:05:20.091839+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LFNG were changed from to Spondylocostal dysostosis 3, autosomal recessive, MIM# 609813",
"entity_name": "LFNG",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:05:01.036722+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LFNG were set to ",
"entity_name": "LFNG",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:04:42.951143+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LFNG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LFNG",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:04:25.462591+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LFNG: Rating: GREEN; Mode of pathogenicity: None; Publications: 9690472, 16385447, 30531807, 9690473; Phenotypes: Spondylocostal dysostosis 3, autosomal recessive, MIM# 609813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LFNG",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:03:29.637021+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LFNG as ready",
"entity_name": "LFNG",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:03:29.625834+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lfng has been classified as Green List (High Evidence).",
"entity_name": "LFNG",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:03:25.438977+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LFNG were changed from SPONDYLOCOSTAL DYSOSTOSIS TYPE 3 to Spondylocostal dysostosis 3, autosomal recessive, MIM# 609813",
"entity_name": "LFNG",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:03:13.305042+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2061",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LFNG were set to ",
"entity_name": "LFNG",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:02:36.848507+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2060",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LBR as ready",
"entity_name": "LBR",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:02:36.833120+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2060",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lbr has been classified as Green List (High Evidence).",
"entity_name": "LBR",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:02:33.389743+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2060",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LBR were changed from HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA to Greenberg skeletal dysplasia, MIM#215140",
"entity_name": "LBR",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:02:24.290056+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2059",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LBR were set to ",
"entity_name": "LBR",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:01:37.616638+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LARP7 as ready",
"entity_name": "LARP7",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:01:37.606572+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: larp7 has been classified as Green List (High Evidence).",
"entity_name": "LARP7",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:01:33.780133+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LARP7 were changed from ALAZAMI SYNDROME to Alazami syndrome, MIM# 615071; Microcephalic primordial dwarfism, Alazami type MONDO:0014031",
"entity_name": "LARP7",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:01:22.882587+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LARP7 were set to ",
"entity_name": "LARP7",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:00:49.376653+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LARGE1 as ready",
"entity_name": "LARGE1",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:00:49.366326+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: large1 has been classified as Green List (High Evidence).",
"entity_name": "LARGE1",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:00:45.758370+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LARGE1 were changed from MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A6; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B6 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154",
"entity_name": "LARGE1",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:00:27.435235+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2055",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LARGE1 were set to ",
"entity_name": "LARGE1",
"entity_type": "gene"
},
{
"created": "2022-01-13T18:00:15.384683+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2054",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Severe end of the spectrum has congenital anomalies.",
"entity_name": "LARGE1",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:59:38.636625+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2054",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAMA2 as ready",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:59:38.624177+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2054",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lama2 has been classified as Green List (High Evidence).",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:59:35.348077+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2054",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LAMA2 were changed from CONGENITAL MUSCULAR DYSTROPHY to Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:59:24.270768+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LAMA2 were set to ",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:50:44.469832+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAMA1 as ready",
"entity_name": "LAMA1",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:50:44.459489+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lama1 has been classified as Green List (High Evidence).",
"entity_name": "LAMA1",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:50:39.923036+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LAMA1 were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION; CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY to Poretti-Boltshauser syndrome, MIM# 615960",
"entity_name": "LAMA1",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:50:24.691457+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2051",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LAMA1 were set to ",
"entity_name": "LAMA1",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:50:10.441845+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Four families with Poretti-Bolthauser syndrome identified in a cohort of 'unsolved' Joubert syndrome patients -- included due to phenotypic overlap. \nSources: Literature; to: Cerebellar abnormalities.\r\n\r\nFour families with Poretti-Bolthauser syndrome identified in a cohort of 'unsolved' Joubert syndrome patients.\r\n\r\nSources: Literature",
"entity_name": "LAMA1",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:49:07.004243+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: L1CAM as ready",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:49:06.991210+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: l1cam has been classified as Green List (High Evidence).",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:49:02.720238+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: L1CAM were changed from MENTAL RETARDATION-APHASIA-SHUFFLING GAIT-ADDUCTED THUMBS SYNDROME; PARTIAL AGENESIS OF THE CORPUS CALLOSUM; HYDROCEPHALUS DUE TO STENOSIS OF THE AQUEDUCT OF SYLVIUS; SPASTIC PARAPLEGIA X-LINKED TYPE 1 to Hydrocephalus due to aqueductal stenosis, MIM# 307000",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:48:45.667852+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2049",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: L1CAM were set to 30712878; 28425981",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:48:19.906385+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2048",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: L1CAM conditions are typically associated with adducted thumb/lower limb spasticity. Single report identified of arthrogryposis.; to: Well established gene-disease association.",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:47:56.476545+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2048",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: L1CAM: Changed rating: GREEN",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:46:50.837502+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2048",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KYNU as ready",
"entity_name": "KYNU",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:46:50.826944+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2048",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kynu has been classified as Green List (High Evidence).",
"entity_name": "KYNU",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:46:46.705279+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2048",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KYNU were changed from Vertebral, cardiac, renal, and limb defects syndrome 2 617661 to Vertebral, cardiac, renal, and limb defects syndrome 2 , MIM#617661",
"entity_name": "KYNU",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:46:28.196390+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2047",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Not convinced ID is part of the phenotype.; to: Multiple congenital anomalies.",
"entity_name": "KYNU",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:46:17.153860+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2047",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KYNU: Changed rating: GREEN; Changed phenotypes: Vertebral, cardiac, renal, and limb defects syndrome 2, MIM#617661; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KYNU",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:45:28.767496+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2047",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KRAS as ready",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:45:28.754161+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2047",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kras has been classified as Green List (High Evidence).",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:45:17.213262+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2047",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KRAS were changed from NOONAN SYNDROME TYPE 3; CARDIOFACIOCUTANEOUS SYNDROME to Noonan syndrome 3, MIM# 609942; Cardiofaciocutaneous syndrome 2, MIM# 615278",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:45:03.964285+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2046",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KRAS were set to ",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:44:52.818108+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2045",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KRAS was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:44:40.773905+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2044",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association in individuals with Noonan syndrome, CFC and overlapping Noonan-CFC.; to: Well established gene-disease association in individuals with Noonan syndrome, CFC and overlapping Noonan-CFC.\r\n\r\nMultiple congenital anomalies, esp cardiac; hydrops.",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:44:05.305807+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2044",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KMT2D as ready",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:44:05.294079+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2044",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt2d has been classified as Green List (High Evidence).",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:44:01.370227+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2044",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KMT2D were changed from KABUKI SYNDROME to Kabuki syndrome 1, MIM# 147920; KMT2D-associated syndrome",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:43:28.283228+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2043",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KMT2D were set to ",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:43:08.612960+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2042",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KMT2D was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:42:41.630206+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2041",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Rare reports of CDH in Kabuki syndrome, not a characteristic or common feature; however, 4 identified in this CDH cohort.; to: Multiple congenital anomalies syndrome.\r\n",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:42:02.311597+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2041",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KMT2C as ready",
"entity_name": "KMT2C",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:42:02.287043+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2041",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt2c has been classified as Green List (High Evidence).",
"entity_name": "KMT2C",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:41:58.251984+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2041",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KMT2C were changed from INTELLECTUAL DISABILITY; Kleefstra syndrome 2 617768 to Kleefstra syndrome 2, MIM#617768",
"entity_name": "KMT2C",
"entity_type": "gene"
}
]
}