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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1093",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1091",
"results": [
{
"created": "2021-12-07T08:56:32.957786+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BCL9L were set to 23035047",
"entity_name": "BCL9L",
"entity_type": "gene"
},
{
"created": "2021-12-07T08:55:31.962657+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BANF1 as ready",
"entity_name": "BANF1",
"entity_type": "gene"
},
{
"created": "2021-12-07T08:55:31.953824+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: banf1 has been classified as Red List (Low Evidence).",
"entity_name": "BANF1",
"entity_type": "gene"
},
{
"created": "2021-12-07T08:55:28.362816+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BANF1 were changed from NESTOR-GUILLERMO PROGERIA SYNDROME to Nestor-Guillermo progeria syndrome, MIM# 614008",
"entity_name": "BANF1",
"entity_type": "gene"
},
{
"created": "2021-12-07T08:55:17.424909+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BANF1 were set to ",
"entity_name": "BANF1",
"entity_type": "gene"
},
{
"created": "2021-12-07T08:55:06.322400+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BANF1 as Red List (low evidence)",
"entity_name": "BANF1",
"entity_type": "gene"
},
{
"created": "2021-12-07T08:55:06.312623+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: banf1 has been classified as Red List (Low Evidence).",
"entity_name": "BANF1",
"entity_type": "gene"
},
{
"created": "2021-12-07T08:54:54.960790+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BANF1: Rating: RED; Mode of pathogenicity: None; Publications: 32783369, 21549337; Phenotypes: Nestor-Guillermo progeria syndrome, MIM# 614008; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BANF1",
"entity_type": "gene"
},
{
"created": "2021-12-07T08:52:04.017997+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: B9D2 as ready",
"entity_name": "B9D2",
"entity_type": "gene"
},
{
"created": "2021-12-07T08:52:04.000496+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b9d2 has been classified as Green List (High Evidence).",
"entity_name": "B9D2",
"entity_type": "gene"
},
{
"created": "2021-12-07T08:51:56.028291+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: B9D2 were changed from to Joubert syndrome 34, MIM#614175; Meckel syndrome 10, MIM#614175",
"entity_name": "B9D2",
"entity_type": "gene"
},
{
"created": "2021-12-07T08:51:35.951654+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: B9D2 were set to ",
"entity_name": "B9D2",
"entity_type": "gene"
},
{
"created": "2021-12-07T08:51:16.602740+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: B9D2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B9D2",
"entity_type": "gene"
},
{
"created": "2021-12-07T08:50:30.491914+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: B9D2 as ready",
"entity_name": "B9D2",
"entity_type": "gene"
},
{
"created": "2021-12-07T08:50:30.479452+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b9d2 has been classified as Green List (High Evidence).",
"entity_name": "B9D2",
"entity_type": "gene"
},
{
"created": "2021-12-07T08:50:18.770500+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: B9D2 as Green List (high evidence)",
"entity_name": "B9D2",
"entity_type": "gene"
},
{
"created": "2021-12-07T08:50:18.756610+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b9d2 has been classified as Green List (High Evidence).",
"entity_name": "B9D2",
"entity_type": "gene"
},
{
"created": "2021-12-07T08:48:01.720862+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WLS as ready",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2021-12-07T08:48:01.696937+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wls has been classified as Green List (High Evidence).",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2021-12-07T08:47:56.859131+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WLS as Green List (high evidence)",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2021-12-07T08:47:56.846488+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wls has been classified as Green List (High Evidence).",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2021-12-07T08:47:44.771235+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WLS was added\ngene: WLS was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: WLS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WLS were set to 34587386\nPhenotypes for gene: WLS were set to Zaki syndrome, MIM#619648\nReview for gene: WLS was set to GREEN\nAdded comment: - Homozygous mutations in 10 affected persons from 5 unrelated families. \r\n- Patients had multiorgan defects, including microcephaly, facial dysmorphism, foot syndactyly, renal agenesis, alopecia, iris coloboma, and heart defects. \r\n- The mutations affected WLS protein stability and Wnt signaling. Knock-in mice showed tissue and cell vulnerability consistent with Wnt-signaling intensity and individual and collective functions of Wnts in embryogenesis. \nSources: Literature",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2021-12-07T08:46:34.263067+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WLS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Zaki syndrome, MIM#619648; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2021-12-07T08:46:10.030938+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WLS were changed from Syndromic structural birth defects to Zaki syndrome, MIM#619648",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2021-12-07T08:45:50.425965+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WLS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Zaki syndrome, MIM#619648; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2021-12-07T08:45:30.970350+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WLS were changed from Syndromic structural birth defects to Zaki syndrome, MIM#619648",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2021-12-07T08:45:05.899644+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WLS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Zaki syndrome, MIM#619648; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2021-12-07T08:44:48.130604+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WLS were changed from Syndromic structural birth defects to Zaki syndrome, MIM#619648",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2021-12-07T08:44:17.075341+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WLS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Zaki syndrome, MIM#619648; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2021-12-07T08:44:01.258496+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WLS were changed from Syndromic structural birth defects to Zaki syndrome, MIM#619648",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2021-12-07T08:43:25.416111+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WLS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Zaki syndrome, MIM#619648; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WLS",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:37:28.070316+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: B9D1 as ready",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:37:28.059806+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b9d1 has been classified as Green List (High Evidence).",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:37:15.258782+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: B9D1 were set to 32622957; 24886560",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:36:59.817239+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: B9D1 as Green List (high evidence)",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:36:59.808326+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b9d1 has been classified as Green List (High Evidence).",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:36:46.671527+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID: 24886560 - 2 unrelated patients with mild Joubert syndrome patients found (1 hom missense, 1 chet inframe deletion/missense). Authors suggest biallelic null variants are lethal. PMID: 21493627 - 1 fetus with Meckell syndrome and chet for a splice/gene deletion. The splice variant proven to result in exon skipping -> PTC, but the deletion spans a large region including 18 other genes. Patient also had an additional variant in CEP290 called LP.; to: PMID: 21493627 - 1 fetus with Meckell syndrome and chet for a splice/gene deletion. The splice variant proven to result in exon skipping -> PTC, but the deletion spans a large region including 18 other genes. Patient also had an additional variant in CEP290 called LP.",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:36:33.236403+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID: 24886560 - 2 unrelated patients with mild Joubert syndrome patients found (1 hom missense, 1 chet inframe deletion/missense). Authors suggest biallelic null variants are lethal. PMID: 21493627 - 1 fetus with Meckell syndrome and chet for a splice/gene deletion. The splice variant proven to result in exon skipping -> PTC, but the deletion spans a large region including 18 other genes. Patient also had an additional variant in CEP290 called LP. Authors perform functional studies on patient cells but given the large deletion/CEP290 variant i dont see the results are usable PMID: 25920555 - another report of digenic inheritance - not usable, patient was only heterozygous for a single B9D1 variant Summary: 2 unrelated patients, AMBER; to: PMID: 24886560 - 2 unrelated patients with mild Joubert syndrome patients found (1 hom missense, 1 chet inframe deletion/missense). Authors suggest biallelic null variants are lethal. PMID: 21493627 - 1 fetus with Meckell syndrome and chet for a splice/gene deletion. The splice variant proven to result in exon skipping -> PTC, but the deletion spans a large region including 18 other genes. Patient also had an additional variant in CEP290 called LP.",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:35:42.329892+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: B9D1: Changed publications: 24886560, 21493627, 25920555, 34338422, 21763481",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:35:19.949005+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: B9D1: Added comment: 3 unrelated cases with a syndromic phenotype and a supporting null mouse model\r\nPMID: 34338422 - compound het missense and frameshift variant in a proband with anal atresia with vestibular fistula, ventricular septal defect, and right renal agenesis (VACTERL cohort)\r\nPMID: 24886560 - 2 Joubert syndrome cases\r\nPMID: 21763481 - B9d1 -/- mouse displayed polydactyly, kidney cysts, ductal plate malformations, and abnormal patterning of the neural tube, concomitant with compromised ciliogenesis, ciliary protein localization, and Hedgehog (Hh) signal transduction.; Changed rating: GREEN",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:34:10.797733+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: B4GAT1 as ready",
"entity_name": "B4GAT1",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:34:10.788410+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b4gat1 has been classified as Green List (High Evidence).",
"entity_name": "B4GAT1",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:34:05.546771+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: B4GAT1 were set to 23877401; 23359570",
"entity_name": "B4GAT1",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:33:46.839418+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: B4GAT1 as Green List (high evidence)",
"entity_name": "B4GAT1",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:33:46.827609+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b4gat1 has been classified as Green List (High Evidence).",
"entity_name": "B4GAT1",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:32:40.219863+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: B3GALNT2 as ready",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:32:40.208465+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b3galnt2 has been classified as Green List (High Evidence).",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:32:36.654134+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: B3GALNT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, OMIM:615181; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11, MONDO:0014071 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181; MONDO:0014071",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:32:17.674302+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: B3GALNT2 were set to ",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:31:58.836424+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: B3GALNT2 as Green List (high evidence)",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:31:58.827350+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b3galnt2 has been classified as Green List (High Evidence).",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:28:16.643262+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1099",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EDNRB as ready",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:28:16.629790+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1099",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ednrb has been classified as Green List (High Evidence).",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:28:11.719075+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1099",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EDNRB were changed from ABCD SYNDROME to Waardenburg syndrome, type 4A, MIM#277580; ABCD syndrome, MIM#\t600501",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:27:43.806836+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1098",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EDNRB was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:27:26.795083+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1097",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: ID is not part of the phenotype.; to: Well established gene-disease association. Hirschsprung's disease and decreased myenteric and submucosal ganglia in the bowel.",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:26:31.579507+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1097",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EDNRB: Changed rating: GREEN",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:25:59.336525+11:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EDNRA as ready",
"entity_name": "EDNRA",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:25:59.323623+11:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ednra has been classified as Green List (High Evidence).",
"entity_name": "EDNRA",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:25:55.984944+11:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EDNRA were changed from to Mandibulofacial dysostosis with alopecia, MIM# 616367",
"entity_name": "EDNRA",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:25:32.999924+11:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EDNRA were set to ",
"entity_name": "EDNRA",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:25:09.246926+11:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EDNRA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EDNRA",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:24:39.033479+11:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EDNRA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25772936, 27671791; Phenotypes: Mandibulofacial dysostosis with alopecia, MIM# 616367; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EDNRA",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:23:02.192442+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1097",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ECEL1 as ready",
"entity_name": "ECEL1",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:23:02.173218+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1097",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ecel1 has been classified as Green List (High Evidence).",
"entity_name": "ECEL1",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:22:48.901499+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1097",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ECEL1 were changed from DISTAL ARTHROGRYPOSIS TYPE 5D to Arthrogryposis, distal, type 5D, MIM# 615065",
"entity_name": "ECEL1",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:22:37.485358+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1096",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ECEL1 were set to ",
"entity_name": "ECEL1",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:22:01.031031+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EBP as ready",
"entity_name": "EBP",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:22:01.015835+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ebp has been classified as Green List (High Evidence).",
"entity_name": "EBP",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:21:52.785144+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EBP were changed from to Chondrodysplasia punctata, X-linked dominant MIM#302960; Conradi-Hunermann syndrome; MEND syndrome, MIM#300960",
"entity_name": "EBP",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:21:26.278892+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EBP were set to ",
"entity_name": "EBP",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:21:07.858202+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EBP was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "EBP",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:20:10.373981+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EBP: Changed publications: 10391218, 10391219",
"entity_name": "EBP",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:19:48.303324+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EBP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chondrodysplasia punctata, X-linked dominant MIM#302960, Conradi-Hunermann syndrome, MEND syndrome, MIM#300960; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "EBP",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:19:04.860072+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1095",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EBP as ready",
"entity_name": "EBP",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:19:04.851288+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1095",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ebp has been classified as Green List (High Evidence).",
"entity_name": "EBP",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:19:00.221635+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1095",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EBP were changed from CHONDRODYSPLASIA PUNCTATA 2, X-LINKED to Chondrodysplasia punctata, X-linked dominant MIM#302960; Conradi-Hunermann syndrome; MEND syndrome, MIM#300960",
"entity_name": "EBP",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:17:56.243380+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1094",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EBF3 as ready",
"entity_name": "EBF3",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:17:56.232643+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1094",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ebf3 has been classified as Green List (High Evidence).",
"entity_name": "EBF3",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:17:51.637408+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1094",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EBF3 were changed from hypotonia, ataxia, and delayed development syndrome MONDO:0015021; Hypotonia, ataxia, and delayed development syndrome OMIM:617330 to Hypotonia, ataxia, and delayed development syndrome MONDO:0015021; Hypotonia, ataxia, and delayed development syndrome OMIM:617330",
"entity_name": "EBF3",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:17:38.428897+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1093",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EBF3 were set to ",
"entity_name": "EBF3",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:17:25.052298+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1092",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EBF3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EBF3",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:17:11.713088+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1091",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Twenty unrelated families reported with mono-allelic variants in this gene and HADDS, a neurodevelopmental syndrome characterised by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia.; to: Twenty unrelated families reported with mono-allelic variants in this gene and HADDS, a neurodevelopmental syndrome characterised by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia. Microcephaly also reported.",
"entity_name": "EBF3",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:14:44.471074+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1091",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: DYRK1A.",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:14:15.301317+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1091",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DYRK1A as ready",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:14:15.289193+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1091",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dyrk1a has been classified as Green List (High Evidence).",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:14:10.598741+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1091",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DYRK1A were changed from MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7 to Mental retardation, autosomal dominant 7, MIM# 614104",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:13:58.188803+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1090",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DYRK1A were set to ",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:13:42.985799+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1089",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DYRK1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:13:28.565245+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1088",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DYRK1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25707398; Phenotypes: Mental retardation, autosomal dominant 7, MIM# 614104; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:11:42.328266+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1088",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DYNC2H1 as ready",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:11:42.318652+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1088",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dync2h1 has been classified as Green List (High Evidence).",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:11:10.590304+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1088",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DYNC2H1 were changed from ASPHYXIATING THORACIC DYSTROPHY TYPE 3; SHORT RIB-POLYDACTYLY SYNDROME TYPE 3 to Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091; MONDO:0013127",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:10:39.191219+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1087",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DYNC2H1 were set to ",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:09:59.578322+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1086",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DYNC1H1 as ready",
"entity_name": "DYNC1H1",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:09:59.567613+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1086",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dync1h1 has been classified as Green List (High Evidence).",
"entity_name": "DYNC1H1",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:09:54.845255+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1086",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DYNC1H1 were changed from SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD; SEVERE ID WITH NEURONAL MIGRATION DISORDER to Charcot-Marie-Tooth disease, axonal, type 20, MIM# 614228; Mental retardation, autosomal dominant 13, MIM# 614563; Spinal muscular atrophy, lower extremity-predominant 1, MIM# 158600",
"entity_name": "DYNC1H1",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:09:40.623521+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1085",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DYNC1H1 were set to ",
"entity_name": "DYNC1H1",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:09:27.334088+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1084",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DYNC1H1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DYNC1H1",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:08:36.960244+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DYM as ready",
"entity_name": "DYM",
"entity_type": "gene"
}
]
}