{"count":220460,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=961","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=959","results":[{"created":"2022-02-28T19:12:55.272889+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4378","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC2A10 as ready","entity_name":"SLC2A10","entity_type":"gene"},{"created":"2022-02-28T19:12:55.261792+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4378","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc2a10 has been classified as Green List (High Evidence).","entity_name":"SLC2A10","entity_type":"gene"},{"created":"2022-02-28T19:12:51.466762+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4378","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC2A10 were changed from ARTERIAL TORTUOSITY SYNDROME to Arterial tortuosity syndrome, MIM# 208050","entity_name":"SLC2A10","entity_type":"gene"},{"created":"2022-02-28T19:12:34.824656+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4377","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC2A10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arterial tortuosity syndrome, MIM# 208050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC2A10","entity_type":"gene"},{"created":"2022-02-28T19:11:24.032027+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4377","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC35A2 as ready","entity_name":"SLC35A2","entity_type":"gene"},{"created":"2022-02-28T19:11:24.022082+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4377","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc35a2 has been classified as Green List (High Evidence).","entity_name":"SLC35A2","entity_type":"gene"},{"created":"2022-02-28T19:11:20.379675+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4377","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC35A2 were changed from CONGENITAL DISORDER OF GLYCOSYLATION to Congenital disorder of glycosylation, type IIm (MIM #300896)","entity_name":"SLC35A2","entity_type":"gene"},{"created":"2022-02-28T19:11:07.254104+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4376","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC35A2 were set to ","entity_name":"SLC35A2","entity_type":"gene"},{"created":"2022-02-28T19:10:50.514085+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4375","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC35A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IIm (MIM #300896); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"SLC35A2","entity_type":"gene"},{"created":"2022-02-28T19:09:18.880356+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4375","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC35C1 as ready","entity_name":"SLC35C1","entity_type":"gene"},{"created":"2022-02-28T19:09:18.869818+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4375","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc35c1 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC35C1","entity_type":"gene"},{"created":"2022-02-28T19:09:15.484439+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4375","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC35C1 were changed from CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2C to Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953","entity_name":"SLC35C1","entity_type":"gene"},{"created":"2022-02-28T19:09:03.775370+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4374","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC35C1 were set to ","entity_name":"SLC35C1","entity_type":"gene"},{"created":"2022-02-28T19:08:49.843305+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4373","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC35C1 as Amber List (moderate evidence)","entity_name":"SLC35C1","entity_type":"gene"},{"created":"2022-02-28T19:08:49.827213+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4373","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc35c1 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC35C1","entity_type":"gene"},{"created":"2022-02-28T19:08:38.346456+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4372","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Congenital disorder of glycosylation type IIc (CDG2C) is an autosomal recessive disorder characterized by moderate to severe DD/ID, mild dysmorphism, and impaired neutrophil motility. More than 5 unrelated families reported, note immune dysfunction is not always present.\r\n\r\nMicrocephaly is a feature.; to: Congenital disorder of glycosylation type IIc (CDG2C) is an autosomal recessive disorder characterized by moderate to severe DD/ID, mild dysmorphism, and impaired neutrophil motility. More than 5 unrelated families reported, note immune dysfunction is not always present.\r\n\r\nMicrocephaly is a feature. Variable severity, some present in childhood.","entity_name":"SLC35C1","entity_type":"gene"},{"created":"2022-02-28T19:07:53.210514+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4372","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Congenital disorder of glycosylation type IIc (CDG2C) is an autosomal recessive disorder characterized by moderate to severe DD/ID, mild dysmorphism, and impaired neutrophil motility. More than 5 unrelated families reported, note immune dysfunction is not always present.; to: Congenital disorder of glycosylation type IIc (CDG2C) is an autosomal recessive disorder characterized by moderate to severe DD/ID, mild dysmorphism, and impaired neutrophil motility. More than 5 unrelated families reported, note immune dysfunction is not always present.\r\n\r\nMicrocephaly is a feature.","entity_name":"SLC35C1","entity_type":"gene"},{"created":"2022-02-28T19:07:31.642782+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4372","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLC35C1: Changed rating: AMBER","entity_name":"SLC35C1","entity_type":"gene"},{"created":"2022-02-28T19:06:35.407726+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4372","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC35D1 as ready","entity_name":"SLC35D1","entity_type":"gene"},{"created":"2022-02-28T19:06:35.393954+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4372","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc35d1 has been classified as Green List (High Evidence).","entity_name":"SLC35D1","entity_type":"gene"},{"created":"2022-02-28T19:06:31.049512+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4372","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC35D1 were changed from SCHNECKENBECKEN DYSPLASIA to Schneckenbecken dysplasia 269250, MONDO:0010013; O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation)","entity_name":"SLC35D1","entity_type":"gene"},{"created":"2022-02-28T19:06:18.517035+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4371","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC35D1 were set to ","entity_name":"SLC35D1","entity_type":"gene"},{"created":"2022-02-28T19:05:44.004329+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4370","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC39A8 as ready","entity_name":"SLC39A8","entity_type":"gene"},{"created":"2022-02-28T19:05:43.987976+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4370","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc39a8 has been classified as Green List (High Evidence).","entity_name":"SLC39A8","entity_type":"gene"},{"created":"2022-02-28T19:03:56.819118+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4370","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC39A8 were changed from Intellectual Disability with Cerebellar Atrophy to Congenital disorder of glycosylation, type IIn , MIM#16721","entity_name":"SLC39A8","entity_type":"gene"},{"created":"2022-02-28T19:03:46.207831+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4369","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC39A8 were set to ","entity_name":"SLC39A8","entity_type":"gene"},{"created":"2022-02-28T19:03:33.274937+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4368","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: 6 individuals from Hutterite descent and two other unrelated families reported. ID a consistent feature.; to: 6 individuals from Hutterite descent and two other unrelated families reported. Craniosynostosis; brain abnormalities.","entity_name":"SLC39A8","entity_type":"gene"},{"created":"2022-02-28T19:02:21.497634+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4368","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: SLX4: Multiple congenital anomalies.","entity_name":"SLX4","entity_type":"gene"},{"created":"2022-02-28T19:02:08.250731+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4368","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLX4 as ready","entity_name":"SLX4","entity_type":"gene"},{"created":"2022-02-28T19:02:08.238254+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4368","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slx4 has been classified as Green List (High Evidence).","entity_name":"SLX4","entity_type":"gene"},{"created":"2022-02-28T19:02:04.856288+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4368","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLX4 were changed from FANCONI ANEMIA COMPLEMENTATION GROUP P to Fanconi anaemia, complementation group P, MIM# 613951; MONDO:0013499","entity_name":"SLX4","entity_type":"gene"},{"created":"2022-02-28T19:01:36.190336+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4367","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMARCA2 as ready","entity_name":"SMARCA2","entity_type":"gene"},{"created":"2022-02-28T19:01:36.179980+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4367","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smarca2 has been classified as Green List (High Evidence).","entity_name":"SMARCA2","entity_type":"gene"},{"created":"2022-02-28T19:01:32.649909+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4367","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SMARCA2 were changed from COFFIN SIRIS; NICOLAIDES-BARAITSER SYNDROME to Nicolaides-Baraitser syndrome, MIM #601358; Blepharophimosis-intellectual disability syndrome","entity_name":"SMARCA2","entity_type":"gene"},{"created":"2022-02-28T19:01:17.469333+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4366","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SMARCA2 were set to ","entity_name":"SMARCA2","entity_type":"gene"},{"created":"2022-02-28T19:01:05.579743+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4365","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: SMARCA2 was changed from  to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","entity_name":"SMARCA2","entity_type":"gene"},{"created":"2022-02-28T19:00:55.368273+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4364","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SMARCA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SMARCA2","entity_type":"gene"},{"created":"2022-02-28T19:00:05.442142+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4363","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMARCA4 as ready","entity_name":"SMARCA4","entity_type":"gene"},{"created":"2022-02-28T19:00:05.417396+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4363","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smarca4 has been classified as Green List (High Evidence).","entity_name":"SMARCA4","entity_type":"gene"},{"created":"2022-02-28T18:59:59.718884+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4363","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SMARCA4 were changed from COFFIN SIRIS; RHABDOID TUMOR PREDISPOSITION SYNDROME 2 to Coffin-Siris syndrome 4, MIM# 614609","entity_name":"SMARCA4","entity_type":"gene"},{"created":"2022-02-28T18:59:45.090896+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4362","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SMARCA4 were set to ","entity_name":"SMARCA4","entity_type":"gene"},{"created":"2022-02-28T18:59:33.113550+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4361","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SMARCA4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SMARCA4","entity_type":"gene"},{"created":"2022-02-28T18:59:21.724410+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4360","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Single individual reported as part of a CDH cohort. \nSources: Literature; to: IUGR and multiple congenital anomalies.\r\nSources: Literature","entity_name":"SMARCA4","entity_type":"gene"},{"created":"2022-02-28T18:59:09.507645+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4360","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SMARCA4: Changed rating: GREEN; Changed phenotypes: Coffin-Siris syndrome 4, MIM# 614609","entity_name":"SMARCA4","entity_type":"gene"},{"created":"2022-02-28T18:58:22.559734+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4360","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMC1A as ready","entity_name":"SMC1A","entity_type":"gene"},{"created":"2022-02-28T18:58:22.531441+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4360","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smc1a has been classified as Green List (High Evidence).","entity_name":"SMC1A","entity_type":"gene"},{"created":"2022-02-28T18:58:18.517748+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4360","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SMC1A were changed from Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771; Cornelia de Lange syndrome 2, OMIM:300590; Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044; Cornelia de Lange syndrome 2, MONDO:0010370 to Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771; Cornelia de Lange syndrome 2, OMIM:300590; Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044; Cornelia de Lange syndrome 2, MONDO:0010370","entity_name":"SMC1A","entity_type":"gene"},{"created":"2022-02-28T18:58:02.550795+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4359","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: CDH is a feature of CdL, but cannot find a report specifically with SMC1A variant.; to: Multiple congenital anomalies syndrome.","entity_name":"SMC1A","entity_type":"gene"},{"created":"2022-02-28T18:57:40.177069+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4359","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SMC1A: Changed rating: GREEN","entity_name":"SMC1A","entity_type":"gene"},{"created":"2022-02-28T18:56:41.949569+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4359","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMC3 as ready","entity_name":"SMC3","entity_type":"gene"},{"created":"2022-02-28T18:56:41.938097+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4359","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smc3 has been classified as Green List (High Evidence).","entity_name":"SMC3","entity_type":"gene"},{"created":"2022-02-28T18:56:32.400406+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4359","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SMC3 were changed from CORNELIA DE LANGE SYNDROME TYPE 3 to Cornelia de Lange syndrome 3, MIM# 610759","entity_name":"SMC3","entity_type":"gene"},{"created":"2022-02-28T18:55:27.229147+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4358","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SMC3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SMC3","entity_type":"gene"},{"created":"2022-02-28T18:55:13.755275+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4357","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: CDH is a feature of CdL but cannot find specific reports of SMC3 variants.; to: Multiple congenital anomalies syndrome.","entity_name":"SMC3","entity_type":"gene"},{"created":"2022-02-28T18:54:59.811740+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4357","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SMC3: Changed rating: GREEN","entity_name":"SMC3","entity_type":"gene"},{"created":"2022-02-28T18:54:36.483402+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4357","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMN1 as ready","entity_name":"SMN1","entity_type":"gene"},{"created":"2022-02-28T18:54:36.464747+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4357","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smn1 has been classified as Green List (High Evidence).","entity_name":"SMN1","entity_type":"gene"},{"created":"2022-02-28T18:54:33.047276+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4357","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SMN1 were changed from Spinal muscular atrophy 253400; Spinal muscular atrophy 271150; Spinal muscular atrophy 253550; Spinal muscular atrophy 253300 to Spinal muscular atrophy 253400; Spinal muscular atrophy 271150; Spinal muscular atrophy 253550; Spinal muscular atrophy 253300","entity_name":"SMN1","entity_type":"gene"},{"created":"2022-02-28T18:54:20.472353+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4356","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: SMN1.","entity_name":"SMN1","entity_type":"gene"},{"created":"2022-02-28T18:53:14.059897+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4356","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMO as ready","entity_name":"SMO","entity_type":"gene"},{"created":"2022-02-28T18:53:14.048618+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4356","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smo has been classified as Green List (High Evidence).","entity_name":"SMO","entity_type":"gene"},{"created":"2022-02-28T18:53:07.171999+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4356","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SMO was changed from Other to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SMO","entity_type":"gene"},{"created":"2022-02-28T18:52:52.193249+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4355","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"SMO","entity_type":"gene"},{"created":"2022-02-28T18:52:47.271649+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4355","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SMO: Added comment: Bi-allelic loss-of-function variations in SMO reported in seven individuals from five independent families. Wide phenotypic spectrum of developmental anomalies affecting the brain (hypothalamic hamartoma and microcephaly), heart (atrioventricular septal defect), skeleton (postaxial polydactyly, narrow chest, and shortening of long bones), and enteric nervous system (aganglionosis).\r\nSomatic recurrent missense variant, L412F causes Curry-Jones syndrome.; Changed publications: 32413283, 27236920; Changed phenotypes: Microcephaly, congenital heart disease, polydactyly, aganglionosis, Pallister-Hall-like syndrome, MIM# 241800; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SMO","entity_type":"gene"},{"created":"2022-02-28T18:51:08.517344+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4355","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SMO were changed from Curry-Jones Syndrome to Curry-Jones syndrome, somatic mosaic, MIM#601707","entity_name":"SMO","entity_type":"gene"},{"created":"2022-02-28T18:50:55.685438+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4354","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SMO were set to ","entity_name":"SMO","entity_type":"gene"},{"created":"2022-02-28T18:50:30.520407+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4353","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: SMO was changed from  to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","entity_name":"SMO","entity_type":"gene"},{"created":"2022-02-28T18:50:12.328813+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4352","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SMO was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other","entity_name":"SMO","entity_type":"gene"},{"created":"2022-02-28T18:49:28.496028+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4351","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMOC1 as ready","entity_name":"SMOC1","entity_type":"gene"},{"created":"2022-02-28T18:49:28.485727+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4351","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smoc1 has been classified as Green List (High Evidence).","entity_name":"SMOC1","entity_type":"gene"},{"created":"2022-02-28T18:49:24.671656+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4351","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SMOC1 were changed from OPHTHALMOACROMELIC SYNDROME to Microphthalmia with limb anomalies, MIM# 206920","entity_name":"SMOC1","entity_type":"gene"},{"created":"2022-02-28T18:48:41.450634+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4350","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SMOC1 were set to ","entity_name":"SMOC1","entity_type":"gene"},{"created":"2022-02-28T18:48:12.377486+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4349","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMPD1 as ready","entity_name":"SMPD1","entity_type":"gene"},{"created":"2022-02-28T18:48:12.366287+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4349","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smpd1 has been classified as Green List (High Evidence).","entity_name":"SMPD1","entity_type":"gene"},{"created":"2022-02-28T18:48:05.414778+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4349","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SMPD1 were changed from NIEMANN-PICK DISEASE TYPE B; NIEMANN-PICK DISEASE TYPE A to Niemann-Pick disease, type A, MIM# 257200; MONDO:0009756","entity_name":"SMPD1","entity_type":"gene"},{"created":"2022-02-28T18:47:53.901477+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4348","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SMPD1 were set to ","entity_name":"SMPD1","entity_type":"gene"},{"created":"2022-02-28T18:43:57.722598+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4347","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZNHIT3 as ready","entity_name":"ZNHIT3","entity_type":"gene"},{"created":"2022-02-28T18:43:57.710618+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4347","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: znhit3 has been classified as Green List (High Evidence).","entity_name":"ZNHIT3","entity_type":"gene"},{"created":"2022-02-28T18:32:34.404201+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4347","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZNF668 as ready","entity_name":"ZNF668","entity_type":"gene"},{"created":"2022-02-28T18:32:34.382184+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4347","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: znf668 has been classified as Amber List (Moderate Evidence).","entity_name":"ZNF668","entity_type":"gene"},{"created":"2022-02-28T18:32:29.676730+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4347","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ZNF668 were set to PMID: 34313816, 26633546","entity_name":"ZNF668","entity_type":"gene"},{"created":"2022-02-28T18:32:01.021646+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4346","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIDD1 as ready","entity_name":"PIDD1","entity_type":"gene"},{"created":"2022-02-28T18:32:00.995813+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4346","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pidd1 has been classified as Amber List (Moderate Evidence).","entity_name":"PIDD1","entity_type":"gene"},{"created":"2022-02-28T18:31:55.873405+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4346","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PIDD1 as Amber List (moderate evidence)","entity_name":"PIDD1","entity_type":"gene"},{"created":"2022-02-28T18:31:55.863204+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4346","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pidd1 has been classified as Amber List (Moderate Evidence).","entity_name":"PIDD1","entity_type":"gene"},{"created":"2022-02-28T18:31:01.789100+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4345","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZNF526 as ready","entity_name":"ZNF526","entity_type":"gene"},{"created":"2022-02-28T18:31:01.779284+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4345","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: znf526 has been classified as Green List (High Evidence).","entity_name":"ZNF526","entity_type":"gene"},{"created":"2022-02-28T18:30:36.825132+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4345","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: YRDC as ready","entity_name":"YRDC","entity_type":"gene"},{"created":"2022-02-28T18:30:36.812604+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4345","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: yrdc has been classified as Green List (High Evidence).","entity_name":"YRDC","entity_type":"gene"},{"created":"2022-02-28T18:28:21.311203+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4345","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: YRDC were set to PMID: 31481669, 34545459","entity_name":"YRDC","entity_type":"gene"},{"created":"2022-02-28T18:27:44.042688+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4344","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NFIB as ready","entity_name":"NFIB","entity_type":"gene"},{"created":"2022-02-28T18:27:44.033085+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4344","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nfib has been classified as Green List (High Evidence).","entity_name":"NFIB","entity_type":"gene"},{"created":"2022-02-28T18:27:29.226793+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4344","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NFIB as Green List (high evidence)","entity_name":"NFIB","entity_type":"gene"},{"created":"2022-02-28T18:27:29.213971+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4344","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nfib has been classified as Green List (High Evidence).","entity_name":"NFIB","entity_type":"gene"},{"created":"2022-02-28T18:27:03.212691+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4343","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: YIF1B as ready","entity_name":"YIF1B","entity_type":"gene"},{"created":"2022-02-28T18:27:03.201078+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4343","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: yif1b has been classified as Green List (High Evidence).","entity_name":"YIF1B","entity_type":"gene"},{"created":"2022-02-28T18:26:36.465201+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AP3D1 were set to 26744459; 9697856","entity_name":"AP3D1","entity_type":"gene"},{"created":"2022-02-28T18:26:13.800570+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AP3D1 as Green List (high evidence)","entity_name":"AP3D1","entity_type":"gene"},{"created":"2022-02-28T18:26:13.788740+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap3d1 has been classified as Green List (High Evidence).","entity_name":"AP3D1","entity_type":"gene"},{"created":"2022-02-28T18:25:56.583292+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: AP3D1: Now four affected individuals from two unrelated families, with a mouse model that recapitulates the human phenotype.","entity_name":"AP3D1","entity_type":"gene"}]}