{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1093","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&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"}]}