{"count":220790,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=998","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=996","results":[{"created":"2022-02-13T18:19:32.755264+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3335","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KIF14 as Green List (high evidence)","entity_name":"KIF14","entity_type":"gene"},{"created":"2022-02-13T18:19:32.744956+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3335","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif14 has been classified as Green List (High Evidence).","entity_name":"KIF14","entity_type":"gene"},{"created":"2022-02-13T18:18:19.085619+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3334","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SPRED2 were changed from cardiac defects; skeletal anomalies to Noonan syndrome 14, MIM# 619745","entity_name":"SPRED2","entity_type":"gene"},{"created":"2022-02-13T18:18:04.980683+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3333","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SPRED2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome 14, MIM# 619745; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SPRED2","entity_type":"gene"},{"created":"2022-02-13T18:17:44.499053+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.37","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SPRED2 were changed from Rasopathy; developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt to Noonan syndrome 14, MIM# 619745","entity_name":"SPRED2","entity_type":"gene"},{"created":"2022-02-13T18:17:13.456552+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.36","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SPRED2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome 14, MIM# 619745; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SPRED2","entity_type":"gene"},{"created":"2022-02-13T18:16:57.265089+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4500","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SPRED2 were changed from Rasopathy; developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt to Noonan syndrome 14, MIM# 619745","entity_name":"SPRED2","entity_type":"gene"},{"created":"2022-02-13T18:16:14.680808+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4499","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SPRED2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome 14, MIM# 619745; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SPRED2","entity_type":"gene"},{"created":"2022-02-13T18:16:13.291562+11:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SPRED2 were changed from Noonan syndrome 14, MIM# 619745 to Noonan syndrome 14, MIM# 619745","entity_name":"SPRED2","entity_type":"gene"},{"created":"2022-02-13T18:15:50.381084+11:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SPRED2 were changed from Rasopathy; developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt to Noonan syndrome 14, MIM# 619745","entity_name":"SPRED2","entity_type":"gene"},{"created":"2022-02-13T18:15:17.103301+11:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SPRED2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome 14, MIM# 619745; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SPRED2","entity_type":"gene"},{"created":"2022-02-13T18:14:57.580279+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10953","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SPRED2 were changed from Rasopathy; developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt to Noonan syndrome 14, MIM# 619745","entity_name":"SPRED2","entity_type":"gene"},{"created":"2022-02-13T18:14:37.294030+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10952","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SPRED2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome 14, MIM# 619745; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SPRED2","entity_type":"gene"},{"created":"2022-02-13T18:14:01.127795+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.189","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SPRED2 were changed from Rasopathy; developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt to Noonan syndrome 14, MIM# 619745","entity_name":"SPRED2","entity_type":"gene"},{"created":"2022-02-13T18:13:25.352333+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.188","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SPRED2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome 14, MIM# 619745; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SPRED2","entity_type":"gene"},{"created":"2022-02-13T18:12:33.110056+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4499","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POLRMT were changed from Mitochondrial disorder; intellectual disability; hypotonia to Combined oxidative phosphorylation deficiency 55, MIM# 619743; intellectual disability; hypotonia","entity_name":"POLRMT","entity_type":"gene"},{"created":"2022-02-13T18:11:57.616645+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4498","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: POLRMT: Changed phenotypes: Combined oxidative phosphorylation deficiency 55, MIM# 619743, intellectual disability, hypotonia","entity_name":"POLRMT","entity_type":"gene"},{"created":"2022-02-13T18:08:45.835505+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.693","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POLRMT were changed from Mitochondrial disorder; intellectual disability; hypotonia to Combined oxidative phosphorylation deficiency 55, MIM# 619743; intellectual disability; hypotonia","entity_name":"POLRMT","entity_type":"gene"},{"created":"2022-02-13T18:08:05.462238+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.692","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: POLRMT: Changed phenotypes: Combined oxidative phosphorylation deficiency 55, MIM# 619743, intellectual disability, hypotonia","entity_name":"POLRMT","entity_type":"gene"},{"created":"2022-02-13T18:07:47.371602+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10952","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POLRMT were changed from Mitochondrial disorder; intellectual disability; hypotonia to Combined oxidative phosphorylation deficiency 55, MIM# 619743; intellectual disability; hypotonia","entity_name":"POLRMT","entity_type":"gene"},{"created":"2022-02-13T18:07:20.200480+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10951","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: POLRMT: Changed phenotypes: Combined oxidative phosphorylation deficiency 55, MIM# 619743, intellectual disability, hypotonia","entity_name":"POLRMT","entity_type":"gene"},{"created":"2022-02-13T13:08:27.797687+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10951","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BAG5 as ready","entity_name":"BAG5","entity_type":"gene"},{"created":"2022-02-13T13:08:27.786318+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10951","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bag5 has been classified as Green List (High Evidence).","entity_name":"BAG5","entity_type":"gene"},{"created":"2022-02-13T13:08:10.637172+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10951","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BAG5 as Green List (high evidence)","entity_name":"BAG5","entity_type":"gene"},{"created":"2022-02-13T13:08:10.624529+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10951","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bag5 has been classified as Green List (High Evidence).","entity_name":"BAG5","entity_type":"gene"},{"created":"2022-02-13T13:07:49.448436+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10950","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BAG5 was added\ngene: BAG5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: BAG5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BAG5 were set to 35044787\nPhenotypes for gene: BAG5 were set to Cardiomyopathy, dilated, 2F, MIM# 619747\nReview for gene: BAG5 was set to GREEN\nAdded comment: 5 individuals from four unrelated families reported. All had early-onset disease, with the diagnosis being made in the second decade of life in 4 patients (families 1, 3, and 4) and at age 34 in 1 (family 2). Refractory ventricular arrhythmias (tachycardia or fibrillation), severely reduced left ventricular ejection fractions, elevated left ventricular diastolic dimensions, and elevated brain natriuretic peptide (BNP) levels reported. All developed severe heart failure requiring placement of a left ventricular assist device for circulatory support, and at least 1 underwent cardiac transplantation. \nSources: Literature","entity_name":"BAG5","entity_type":"gene"},{"created":"2022-02-13T13:07:31.227802+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BAG5 as ready","entity_name":"BAG5","entity_type":"gene"},{"created":"2022-02-13T13:07:31.214398+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bag5 has been classified as Green List (High Evidence).","entity_name":"BAG5","entity_type":"gene"},{"created":"2022-02-13T13:07:09.618450+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BAG5 as Green List (high evidence)","entity_name":"BAG5","entity_type":"gene"},{"created":"2022-02-13T13:07:09.607152+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bag5 has been classified as Green List (High Evidence).","entity_name":"BAG5","entity_type":"gene"},{"created":"2022-02-13T13:06:04.771359+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BAG5 was added\ngene: BAG5 was added to Dilated Cardiomyopathy. Sources: Literature\nMode of inheritance for gene: BAG5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BAG5 were set to 35044787\nPhenotypes for gene: BAG5 were set to Cardiomyopathy, dilated, 2F, MIM#\t619747\nReview for gene: BAG5 was set to GREEN\nAdded comment: 5 individuals from four unrelated families reported. All had early-onset disease, with the diagnosis being made in the second decade of life in 4 patients (families 1, 3, and 4) and at age 34 in 1 (family 2). Refractory ventricular arrhythmias (tachycardia or fibrillation), severely reduced left ventricular ejection fractions, elevated left ventricular diastolic dimensions, and elevated brain natriuretic peptide (BNP) levels reported. All developed severe heart failure requiring placement of a left ventricular assist device for circulatory support, and at least 1 underwent cardiac transplantation. \nSources: Literature","entity_name":"BAG5","entity_type":"gene"},{"created":"2022-02-11T21:17:37.716550+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3333","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NEXMIF as ready","entity_name":"NEXMIF","entity_type":"gene"},{"created":"2022-02-11T21:17:37.705365+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3333","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nexmif has been classified as Red List (Low Evidence).","entity_name":"NEXMIF","entity_type":"gene"},{"created":"2022-02-11T21:17:33.981977+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3333","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NEXMIF were changed from Intellectual disability and epilepsy; KIAA2022 to Mental retardation, X-linked 98 300912","entity_name":"NEXMIF","entity_type":"gene"},{"created":"2022-02-11T21:17:19.738221+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3332","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NEXMIF were set to ","entity_name":"NEXMIF","entity_type":"gene"},{"created":"2022-02-11T21:17:08.738323+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3331","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NEXMIF as Red List (low evidence)","entity_name":"NEXMIF","entity_type":"gene"},{"created":"2022-02-11T21:17:08.725805+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3331","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nexmif has been classified as Red List (Low Evidence).","entity_name":"NEXMIF","entity_type":"gene"},{"created":"2022-02-11T21:16:56.632235+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3330","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Females have been described as both asymptomatic carriers or affected. Given only PTCs have been reported, there is no genotype-phenotype correlation. OMIM describes that a phenotype manifests depending on X-inactivation skewing No reported pathogenic missense to date except for the one LP hemizygous in DDD that is maternally inherited (Decipher) Compared with its hemizygous male counterpart, the heterozygous female disease has less severe intellectual disability, but is more often associated with a severe and intractable myoclonic epilepsy.; to: Females have been described as both asymptomatic carriers or affected. Given only PTCs have been reported, there is no genotype-phenotype correlation. OMIM describes that a phenotype manifests depending on X-inactivation skewing No reported pathogenic missense to date except for the one LP hemizygous in DDD that is maternally inherited (Decipher) Compared with its hemizygous male counterpart, the heterozygous female disease has less severe intellectual disability, but is more often associated with a severe and intractable myoclonic epilepsy.\r\n\r\nTypically presents post-natally.","entity_name":"NEXMIF","entity_type":"gene"},{"created":"2022-02-11T21:16:41.438421+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3330","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NEXMIF: Changed rating: RED","entity_name":"NEXMIF","entity_type":"gene"},{"created":"2022-02-11T21:15:34.378578+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3330","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NHP2 as ready","entity_name":"NHP2","entity_type":"gene"},{"created":"2022-02-11T21:15:34.368329+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3330","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nhp2 has been classified as Red List (Low Evidence).","entity_name":"NHP2","entity_type":"gene"},{"created":"2022-02-11T21:15:30.403552+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3330","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NHP2 were changed from DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 to Dyskeratosis congenita, autosomal recessive 2, MIM# 613987; Høyeraal-Hreidarsson syndrome","entity_name":"NHP2","entity_type":"gene"},{"created":"2022-02-11T21:15:16.972539+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3329","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NHP2 were set to ","entity_name":"NHP2","entity_type":"gene"},{"created":"2022-02-11T21:15:03.516791+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3328","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NHP2 as Red List (low evidence)","entity_name":"NHP2","entity_type":"gene"},{"created":"2022-02-11T21:15:03.505635+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3328","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nhp2 has been classified as Red List (Low Evidence).","entity_name":"NHP2","entity_type":"gene"},{"created":"2022-02-11T21:14:50.123986+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3327","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Three individuals reported altogether, of those two had DD/ID.; to: Three individuals reported altogether, one of whom had the more severe HH phenotype.","entity_name":"NHP2","entity_type":"gene"},{"created":"2022-02-11T21:14:23.611673+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3327","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NHP2: Changed rating: RED","entity_name":"NHP2","entity_type":"gene"},{"created":"2022-02-11T21:11:06.398895+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3327","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NONO as ready","entity_name":"NONO","entity_type":"gene"},{"created":"2022-02-11T21:11:06.389324+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3327","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nono has been classified as Green List (High Evidence).","entity_name":"NONO","entity_type":"gene"},{"created":"2022-02-11T21:10:59.876800+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3327","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NONO were changed from Atresia; Ventricular septal defect (VSD); Pulmonary stenosis; Ebstein s anomaly; Left ventricular non-compaction cardiomyopathy (LVNC) to Mental retardation, X-linked, syndromic 34, MIM# 300967; Ventricular septal defect (VSD); Pulmonary stenosis; Ebstein s anomaly; Left ventricular non-compaction cardiomyopathy (LVNC)","entity_name":"NONO","entity_type":"gene"},{"created":"2022-02-11T21:10:45.600875+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3326","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NONO were set to 32397791; 26571461; 27329731; 27550220","entity_name":"NONO","entity_type":"gene"},{"created":"2022-02-11T21:10:44.651863+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3326","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NONO were set to 32397791","entity_name":"NONO","entity_type":"gene"},{"created":"2022-02-11T21:10:28.398741+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3325","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NONO as Green List (high evidence)","entity_name":"NONO","entity_type":"gene"},{"created":"2022-02-11T21:10:28.388971+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3325","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nono has been classified as Green List (High Evidence).","entity_name":"NONO","entity_type":"gene"},{"created":"2022-02-11T20:25:49.793088+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3324","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIAA0753 as ready","entity_name":"KIAA0753","entity_type":"gene"},{"created":"2022-02-11T20:25:49.784258+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3324","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kiaa0753 has been classified as Green List (High Evidence).","entity_name":"KIAA0753","entity_type":"gene"},{"created":"2022-02-11T20:25:43.560219+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3324","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KIAA0753 were changed from Orofaciodigital syndrome XV, MONDO:0014932; ?Orofaciodigital syndrome XV, OMIM:617127 to Orofaciodigital syndrome XV, MONDO:0014932; Orofaciodigital syndrome XV, OMIM:617127; Joubert syndrome","entity_name":"KIAA0753","entity_type":"gene"},{"created":"2022-02-11T20:25:19.337410+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3323","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KIAA0753 were set to 28220259; 29138412; 26643951","entity_name":"KIAA0753","entity_type":"gene"},{"created":"2022-02-11T20:24:45.211898+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3322","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KIAA0753 as Green List (high evidence)","entity_name":"KIAA0753","entity_type":"gene"},{"created":"2022-02-11T20:24:45.200076+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3322","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kiaa0753 has been classified as Green List (High Evidence).","entity_name":"KIAA0753","entity_type":"gene"},{"created":"2022-02-11T20:24:31.935888+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3321","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KIAA0753: Changed rating: GREEN","entity_name":"KIAA0753","entity_type":"gene"},{"created":"2022-02-11T20:14:48.699175+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3321","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KDM1A as ready","entity_name":"KDM1A","entity_type":"gene"},{"created":"2022-02-11T20:14:48.684668+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3321","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kdm1a has been classified as Green List (High Evidence).","entity_name":"KDM1A","entity_type":"gene"},{"created":"2022-02-11T20:14:39.865583+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3321","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KDM1A were changed from Developmental delay and distinctive facial features to Cleft palate, psychomotor retardation, and distinctive facial features 616728","entity_name":"KDM1A","entity_type":"gene"},{"created":"2022-02-11T20:14:26.144608+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3320","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KDM1A were set to ","entity_name":"KDM1A","entity_type":"gene"},{"created":"2022-02-11T20:14:05.488418+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3319","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KDM1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KDM1A","entity_type":"gene"},{"created":"2022-02-11T20:13:54.433487+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3318","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KDM1A as Green List (high evidence)","entity_name":"KDM1A","entity_type":"gene"},{"created":"2022-02-11T20:13:54.422316+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3318","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kdm1a has been classified as Green List (High Evidence).","entity_name":"KDM1A","entity_type":"gene"},{"created":"2022-02-11T20:13:42.950300+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3317","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Three unrelated individuals with de novo missense variants in this gene and a neurodevelopmental phenotype. Note one of the individuals also had a de novo indel in ANKRD11. Some data published subsequently demonstrating functional impact of all three variants.; to: Three unrelated individuals with de novo missense variants in this gene and a neurodevelopmental phenotype. Note one of the individuals also had a de novo indel in ANKRD11. Some data published subsequently demonstrating functional impact of all three variants.\r\n\r\nLGA, cleft palate, brain abnormalities reported.","entity_name":"KDM1A","entity_type":"gene"},{"created":"2022-02-11T20:11:22.778551+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3317","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNQ5 as ready","entity_name":"KCNQ5","entity_type":"gene"},{"created":"2022-02-11T20:11:22.766260+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3317","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnq5 has been classified as Red List (Low Evidence).","entity_name":"KCNQ5","entity_type":"gene"},{"created":"2022-02-11T20:11:18.790301+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3317","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCNQ5 were changed from Intellectual Disability with or without Epileptic Encephalopathy to Mental retardation, autosomal dominant 46, MIM# 617601","entity_name":"KCNQ5","entity_type":"gene"},{"created":"2022-02-11T20:10:51.258477+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3316","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KCNQ5 were set to ","entity_name":"KCNQ5","entity_type":"gene"},{"created":"2022-02-11T20:10:40.133289+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3315","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KCNQ5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNQ5","entity_type":"gene"},{"created":"2022-02-11T20:10:29.078030+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3314","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KCNQ5 as Red List (low evidence)","entity_name":"KCNQ5","entity_type":"gene"},{"created":"2022-02-11T20:10:29.066059+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3314","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnq5 has been classified as Red List (Low Evidence).","entity_name":"KCNQ5","entity_type":"gene"},{"created":"2022-02-11T20:10:16.640492+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3313","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Four unrelated individuals reported with de novo missense variants in this gene and a neurodevelopmental disorder, including epileptic encephalopathy in some. Three of the variants demonstrated to be LoF and one GoF. Further individual reported in PMID 30359776 with mild ID and absence epilepsy and an intragenic duplication causing likely LoF.; to: Four unrelated individuals reported with de novo missense variants in this gene and a neurodevelopmental disorder, including epileptic encephalopathy in some. Three of the variants demonstrated to be LoF and one GoF. Further individual reported in PMID 30359776 with mild ID and absence epilepsy and an intragenic duplication causing likely LoF.\r\n\r\nClinical presentation is typically post-natal.","entity_name":"KCNQ5","entity_type":"gene"},{"created":"2022-02-11T20:09:52.466008+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3313","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KCNQ5: Changed rating: RED","entity_name":"KCNQ5","entity_type":"gene"},{"created":"2022-02-11T20:07:59.766965+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3313","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNJ6 as ready","entity_name":"KCNJ6","entity_type":"gene"},{"created":"2022-02-11T20:07:59.757525+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3313","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnj6 has been classified as Red List (Low Evidence).","entity_name":"KCNJ6","entity_type":"gene"},{"created":"2022-02-11T20:07:56.337897+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3313","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCNJ6 were changed from KEPPEN-LUBINSKY SYNDROME to Keppen-Lubinsky syndrome, MIM# 614098; MONDO:0013572","entity_name":"KCNJ6","entity_type":"gene"},{"created":"2022-02-11T20:07:41.313220+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3312","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KCNJ6 were set to ","entity_name":"KCNJ6","entity_type":"gene"},{"created":"2022-02-11T20:07:26.903736+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3311","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KCNJ6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNJ6","entity_type":"gene"},{"created":"2022-02-11T20:07:03.814812+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3310","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KCNJ6 as Red List (low evidence)","entity_name":"KCNJ6","entity_type":"gene"},{"created":"2022-02-11T20:07:03.803712+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3310","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnj6 has been classified as Red List (Low Evidence).","entity_name":"KCNJ6","entity_type":"gene"},{"created":"2022-02-11T20:06:51.818179+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3309","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Keppen-Lubinsky syndrome characterised by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and distinctive dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth.\r\n\r\nFour unrelated individuals reported with de novo variants in this gene (one recurred in 2), mouse model. One of the individuals did not have lipodystrophy but had a prominent hyperkinetic movement disorder.; to: Keppen-Lubinsky syndrome characterised by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and distinctive dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth.\r\n\r\nFour unrelated individuals reported with de novo variants in this gene (one recurred in 2), mouse model. One of the individuals did not have lipodystrophy but had a prominent hyperkinetic movement disorder.\r\n\r\nClinical presentation is typically post-natal, with normal growth parameters at birth.","entity_name":"KCNJ6","entity_type":"gene"},{"created":"2022-02-11T20:06:23.633914+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3309","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KCNJ6: Changed rating: RED","entity_name":"KCNJ6","entity_type":"gene"},{"created":"2022-02-11T19:07:11.915003+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3309","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNH1 as ready","entity_name":"KCNH1","entity_type":"gene"},{"created":"2022-02-11T19:07:11.904725+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3309","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnh1 has been classified as Green List (High Evidence).","entity_name":"KCNH1","entity_type":"gene"},{"created":"2022-02-11T19:07:07.619698+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3309","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCNH1 were changed from TEMPLE BARRAISTER SYNDROME to Zimmermann-Laband syndrome 1, OMIM:135500","entity_name":"KCNH1","entity_type":"gene"},{"created":"2022-02-11T19:06:52.301054+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3308","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KCNH1 were set to ","entity_name":"KCNH1","entity_type":"gene"},{"created":"2022-02-11T19:06:41.523254+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3307","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KCNH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNH1","entity_type":"gene"},{"created":"2022-02-11T19:06:30.762821+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3306","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KCNH1 as Green List (high evidence)","entity_name":"KCNH1","entity_type":"gene"},{"created":"2022-02-11T19:06:30.752034+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3306","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnh1 has been classified as Green List (High Evidence).","entity_name":"KCNH1","entity_type":"gene"},{"created":"2022-02-11T19:06:03.591581+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3305","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KCNH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Zimmermann-Laband syndrome 1, OMIM:135500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNH1","entity_type":"gene"},{"created":"2022-02-11T18:56:28.916374+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3305","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNC3 as ready","entity_name":"KCNC3","entity_type":"gene"},{"created":"2022-02-11T18:56:28.905063+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3305","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnc3 has been classified as Red List (Low Evidence).","entity_name":"KCNC3","entity_type":"gene"},{"created":"2022-02-11T18:56:24.953642+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3305","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCNC3 were changed from SPINOCEREBELLAR ATAXIA TYPE 13 to Spinocerebellar ataxia 13, MIM#605259","entity_name":"KCNC3","entity_type":"gene"},{"created":"2022-02-11T18:56:11.628029+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3304","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KCNC3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNC3","entity_type":"gene"},{"created":"2022-02-11T18:56:01.270804+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3303","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KCNC3 as Red List (low evidence)","entity_name":"KCNC3","entity_type":"gene"}]}