{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1086","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1084","results":[{"created":"2021-12-13T17:01:04.172021+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1278","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FOXG1 were set to 21441262; 19564653; 19578037; 27029630","entity_name":"FOXG1","entity_type":"gene"},{"created":"2021-12-13T17:00:52.127407+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1277","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FOXG1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FOXG1","entity_type":"gene"},{"created":"2021-12-13T17:00:31.901951+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1276","user_name":"Belinda Chong","item_type":"entity","text":"reviewed gene: EXOSC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22544365, 25149867, 23284067, 24524299; Phenotypes: Pontocerebellar hypoplasia, type 1B 614678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"EXOSC3","entity_type":"gene"},{"created":"2021-12-13T16:59:57.210241+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10223","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FOXRED1 as ready","entity_name":"FOXRED1","entity_type":"gene"},{"created":"2021-12-13T16:59:57.200851+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10223","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: foxred1 has been classified as Green List (High Evidence).","entity_name":"FOXRED1","entity_type":"gene"},{"created":"2021-12-13T16:59:54.518083+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10223","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GALE were set to ","entity_name":"GALE","entity_type":"gene"},{"created":"2021-12-13T16:59:38.323016+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10222","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FOXRED1 were changed from  to Mitochondrial complex I deficiency, nuclear type 19 MIM#618241","entity_name":"FOXRED1","entity_type":"gene"},{"created":"2021-12-13T16:59:15.166296+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10221","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FOXRED1 were set to ","entity_name":"FOXRED1","entity_type":"gene"},{"created":"2021-12-13T16:58:54.354044+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10220","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FOXRED1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FOXRED1","entity_type":"gene"},{"created":"2021-12-13T16:58:09.694239+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10219","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FREM2 as ready","entity_name":"FREM2","entity_type":"gene"},{"created":"2021-12-13T16:58:09.684985+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10219","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: frem2 has been classified as Green List (High Evidence).","entity_name":"FREM2","entity_type":"gene"},{"created":"2021-12-13T16:57:58.559655+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10219","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FREM2 were changed from  to Cryptophthalmos, unilateral or bilateral, isolated MIM#123570; Fraser syndrome 2 MIM#617666","entity_name":"FREM2","entity_type":"gene"},{"created":"2021-12-13T16:57:37.000417+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10218","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FREM2 were set to ","entity_name":"FREM2","entity_type":"gene"},{"created":"2021-12-13T16:57:14.938853+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10217","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FREM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FREM2","entity_type":"gene"},{"created":"2021-12-13T16:56:37.774256+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1276","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FREM2 as ready","entity_name":"FREM2","entity_type":"gene"},{"created":"2021-12-13T16:56:37.763895+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1276","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: frem2 has been classified as Green List (High Evidence).","entity_name":"FREM2","entity_type":"gene"},{"created":"2021-12-13T16:56:33.861286+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1276","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FREM2 were changed from FRASER SYNDROME to Cryptophthalmos, unilateral or bilateral, isolated MIM#123570; Fraser syndrome 2 MIM#617666","entity_name":"FREM2","entity_type":"gene"},{"created":"2021-12-13T16:56:19.965096+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1275","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FREM2 were set to ","entity_name":"FREM2","entity_type":"gene"},{"created":"2021-12-13T16:55:19.952142+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1274","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GAA as ready","entity_name":"GAA","entity_type":"gene"},{"created":"2021-12-13T16:55:19.939071+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1274","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gaa has been classified as Green List (High Evidence).","entity_name":"GAA","entity_type":"gene"},{"created":"2021-12-13T16:55:14.166657+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1274","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GAA were changed from GLYCOGEN STORAGE DISEASE TYPE II to Glycogen storage disease II MIM#232300","entity_name":"GAA","entity_type":"gene"},{"created":"2021-12-13T16:54:47.402149+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1273","user_name":"Belinda Chong","item_type":"entity","text":"reviewed gene: ERCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 14661080, 21108394; Phenotypes: Cockayne syndrome, type A, MIM# 216400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"ERCC8","entity_type":"gene"},{"created":"2021-12-13T16:54:09.261618+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1273","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NPR2 as ready","entity_name":"NPR2","entity_type":"gene"},{"created":"2021-12-13T16:54:09.252184+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1273","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: npr2 has been classified as Green List (High Evidence).","entity_name":"NPR2","entity_type":"gene"},{"created":"2021-12-13T16:54:04.412138+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1273","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NPR2 were changed from ACROMESOMELIC DYSPLASIA MAROTEAUX TYPE to Acromesomelic dysplasia 1, Maroteaux type (MIM#602875); Epiphyseal chondrodysplasia, Miura type (MIM#615923); Short stature with nonspecific skeletal abnormalities (MIM#616255)","entity_name":"NPR2","entity_type":"gene"},{"created":"2021-12-13T16:53:51.208411+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1272","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NPR2 were set to ","entity_name":"NPR2","entity_type":"gene"},{"created":"2021-12-13T16:53:38.446928+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1271","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: NPR2 was changed from  to Other","entity_name":"NPR2","entity_type":"gene"},{"created":"2021-12-13T16:53:28.587356+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1270","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NPR2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"NPR2","entity_type":"gene"},{"created":"2021-12-13T16:53:09.680848+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1269","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NPR2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"NPR2","entity_type":"gene"},{"created":"2021-12-13T16:52:34.687114+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10216","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GALE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GALE","entity_type":"gene"},{"created":"2021-12-13T16:52:11.813753+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10215","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GALK1 were changed from  to Galactokinase deficiency with cataracts MIM#230200; Disorders of galactose metabolism","entity_name":"GALK1","entity_type":"gene"},{"created":"2021-12-13T16:51:47.662897+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10214","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GALK1 were set to ","entity_name":"GALK1","entity_type":"gene"},{"created":"2021-12-13T16:51:44.356402+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1268","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GALE as ready","entity_name":"GALE","entity_type":"gene"},{"created":"2021-12-13T16:51:44.338744+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1268","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gale has been classified as Green List (High Evidence).","entity_name":"GALE","entity_type":"gene"},{"created":"2021-12-13T16:51:36.145068+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1268","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GALE were changed from EPIMERASE-DEFICIENCY GALACTOSEMIA to Galactose epimerase deficiency MIM#230350","entity_name":"GALE","entity_type":"gene"},{"created":"2021-12-13T16:51:24.325145+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1267","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GALE were set to ","entity_name":"GALE","entity_type":"gene"},{"created":"2021-12-13T16:51:21.271532+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10213","user_name":"Belinda Chong","item_type":"entity","text":"reviewed gene: ERCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301516 20456449 9443879 8566949; Phenotypes: Cockayne syndrome, type B, MIM#133540, Cerebrooculofacioskeletal syndrome 1, MIM#214150, De Sanctis-Cacchione syndrome, MIM#278800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"ERCC6","entity_type":"gene"},{"created":"2021-12-13T16:51:10.586454+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10213","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GALK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GALK1","entity_type":"gene"},{"created":"2021-12-13T16:50:05.296260+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1266","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GALK1 as ready","entity_name":"GALK1","entity_type":"gene"},{"created":"2021-12-13T16:50:05.284209+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1266","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: galk1 has been classified as Green List (High Evidence).","entity_name":"GALK1","entity_type":"gene"},{"created":"2021-12-13T16:50:01.240031+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1266","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GALK1 were changed from GALACTOSEMIA II to Galactokinase deficiency with cataracts MIM#230200","entity_name":"GALK1","entity_type":"gene"},{"created":"2021-12-13T16:49:56.585551+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1265","user_name":"Ain Roesley","item_type":"entity","text":"edited their review of gene: GALK1: Changed rating: GREEN","entity_name":"GALK1","entity_type":"gene"},{"created":"2021-12-13T16:49:49.286048+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1265","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GALK1 were set to ","entity_name":"GALK1","entity_type":"gene"},{"created":"2021-12-13T16:49:44.369016+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1264","user_name":"Ain Roesley","item_type":"entity","text":"changed review comment from: There is no structural changes that can be identified in a neonate with this condition; to: Cataracts' visible on ultrasound","entity_name":"GALK1","entity_type":"gene"},{"created":"2021-12-13T16:49:33.530353+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1264","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GALK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactokinase deficiency with cataracts MIM#230200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GALK1","entity_type":"gene"},{"created":"2021-12-13T16:49:27.675826+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1264","user_name":"Belinda Chong","item_type":"entity","text":"reviewed gene: ERCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301516, 20456449, 9443879, 8566949; Phenotypes: Cockayne syndrome, type B, MIM#133540, Cerebrooculofacioskeletal syndrome 1, MIM#214150, De Sanctis-Cacchione syndrome, MIM#278800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"ERCC6","entity_type":"gene"},{"created":"2021-12-13T16:48:44.320309+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1264","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GALNS as ready","entity_name":"GALNS","entity_type":"gene"},{"created":"2021-12-13T16:48:44.307536+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1264","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: galns has been classified as Green List (High Evidence).","entity_name":"GALNS","entity_type":"gene"},{"created":"2021-12-13T16:48:38.658332+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1264","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GALNS were changed from MUCOPOLYSACCHARIDOSIS TYPE 4A to Mucopolysaccharidosis IVA, MIM# 253000; MONDO:0009659","entity_name":"GALNS","entity_type":"gene"},{"created":"2021-12-13T16:48:27.270552+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1263","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GALNS were set to ","entity_name":"GALNS","entity_type":"gene"},{"created":"2021-12-13T16:48:14.486288+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1262","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GALNS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis IVA, MIM# 253000, MONDO:0009659; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GALNS","entity_type":"gene"},{"created":"2021-12-13T16:44:59.858295+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1262","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GATA4 as ready","entity_name":"GATA4","entity_type":"gene"},{"created":"2021-12-13T16:44:59.845070+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1262","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gata4 has been classified as Green List (High Evidence).","entity_name":"GATA4","entity_type":"gene"},{"created":"2021-12-13T16:44:55.941358+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1262","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GATA4 were changed from ATRIAL SEPTAL DEFECT TYPE 2 to Atrial septal defect 2 MIM#607941; Atrioventricular septal defect 4 MIM#614430; Ventricular septal defect 1 MIM#614429","entity_name":"GATA4","entity_type":"gene"},{"created":"2021-12-13T16:44:43.106678+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1261","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GATA4 were set to ","entity_name":"GATA4","entity_type":"gene"},{"created":"2021-12-13T16:44:30.303646+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1260","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GATA4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GATA4","entity_type":"gene"},{"created":"2021-12-13T16:43:59.935656+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10212","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GATA4 as ready","entity_name":"GATA4","entity_type":"gene"},{"created":"2021-12-13T16:43:59.925299+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10212","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gata4 has been classified as Green List (High Evidence).","entity_name":"GATA4","entity_type":"gene"},{"created":"2021-12-13T16:43:49.595479+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10212","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GATA4 were changed from  to Atrial septal defect 2 MIM#607941; Atrioventricular septal defect 4 MIM#614430; Ventricular septal defect 1 MIM#614429","entity_name":"GATA4","entity_type":"gene"},{"created":"2021-12-13T16:43:27.343174+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10211","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GATA4 were set to ","entity_name":"GATA4","entity_type":"gene"},{"created":"2021-12-13T16:43:03.117021+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10210","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GATA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GATA4","entity_type":"gene"},{"created":"2021-12-13T16:42:17.887875+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1259","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NPHS1 as ready","entity_name":"NPHS1","entity_type":"gene"},{"created":"2021-12-13T16:42:17.876569+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1259","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nphs1 has been classified as Green List (High Evidence).","entity_name":"NPHS1","entity_type":"gene"},{"created":"2021-12-13T16:42:13.269783+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1259","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NPHS1 were changed from NEPHROTIC SYNDROME TYPE 1 to Nephrotic syndrome, type 1 (MIM#256300)","entity_name":"NPHS1","entity_type":"gene"},{"created":"2021-12-13T16:42:00.593663+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1258","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NPHS1 were set to ","entity_name":"NPHS1","entity_type":"gene"},{"created":"2021-12-13T16:41:42.380525+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10209","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:NPC1 from the panel","entity_name":null,"entity_type":null},{"created":"2021-12-13T16:40:20.695063+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1257","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NPC1 as ready","entity_name":"NPC1","entity_type":"gene"},{"created":"2021-12-13T16:40:20.683437+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1257","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: npc1 has been classified as Green List (High Evidence).","entity_name":"NPC1","entity_type":"gene"},{"created":"2021-12-13T16:40:16.425275+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1257","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NPC1 were changed from NIEMANN-PICK DISEASE, TYPE C1 to Niemann-Pick disease, type C1/ type D (MIM#257220)","entity_name":"NPC1","entity_type":"gene"},{"created":"2021-12-13T16:40:02.664638+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1256","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NPC1 were set to ","entity_name":"NPC1","entity_type":"gene"},{"created":"2021-12-13T16:39:22.543580+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1255","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NOTCH2 as ready","entity_name":"NOTCH2","entity_type":"gene"},{"created":"2021-12-13T16:39:22.533475+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1255","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: notch2 has been classified as Green List (High Evidence).","entity_name":"NOTCH2","entity_type":"gene"},{"created":"2021-12-13T16:39:18.339216+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1255","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NOTCH2 were changed from HAJDU-CHENEY SYNDROME to Alagille syndrome 2 (MIM#610205); Hajdu-Cheney syndrome (MIM#102500)","entity_name":"NOTCH2","entity_type":"gene"},{"created":"2021-12-13T16:39:05.288212+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1254","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NOTCH2 were set to ","entity_name":"NOTCH2","entity_type":"gene"},{"created":"2021-12-13T16:38:51.555325+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1253","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NOTCH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NOTCH2","entity_type":"gene"},{"created":"2021-12-13T16:37:50.122756+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1252","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NOTCH1 as ready","entity_name":"NOTCH1","entity_type":"gene"},{"created":"2021-12-13T16:37:50.107304+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1252","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: notch1 has been classified as Green List (High Evidence).","entity_name":"NOTCH1","entity_type":"gene"},{"created":"2021-12-13T16:37:45.669825+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1252","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NOTCH1 were changed from ADAMS OLIVER SYNDROME; LEFT VENTRICULAR OUTFLOW TRACT OBSTRUCTION to Adams-Oliver syndrome 5 (MIM#616028)","entity_name":"NOTCH1","entity_type":"gene"},{"created":"2021-12-13T16:37:32.159954+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1251","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NOTCH1 were set to ","entity_name":"NOTCH1","entity_type":"gene"},{"created":"2021-12-13T16:37:20.859832+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1250","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NOTCH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NOTCH1","entity_type":"gene"},{"created":"2021-12-13T16:36:52.473480+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1249","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NOG as ready","entity_name":"NOG","entity_type":"gene"},{"created":"2021-12-13T16:36:52.461639+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1249","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nog has been classified as Amber List (Moderate Evidence).","entity_name":"NOG","entity_type":"gene"},{"created":"2021-12-13T16:36:48.521368+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1249","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NOG were changed from SYMPHALANGISM PROXIMAL SYNDROME; TARSAL-CARPAL COALITION SYNDROME; MULTIPLE SYNOSTOSES SYNDROME TYPE 1; BRACHYDACTYLY TYPE B2; STAPES ANKYLOSIS WITH BROAD THUMB AND TOES to Brachydactyly, type B2 (MIM#611377); Multiple synostoses syndrome 1 (MIM#186500); Stapes ankylosis with broad thumbs and toes (MIM#184460); Symphalangism, proximal, 1A (MIM#185800); Tarsal-carpal coalition syndrome (MIM#186570)","entity_name":"NOG","entity_type":"gene"},{"created":"2021-12-13T16:36:30.315029+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1248","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NOG were set to ","entity_name":"NOG","entity_type":"gene"},{"created":"2021-12-13T16:36:13.650183+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1247","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NOG was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NOG","entity_type":"gene"},{"created":"2021-12-13T16:36:02.360920+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1246","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NOG as Amber List (moderate evidence)","entity_name":"NOG","entity_type":"gene"},{"created":"2021-12-13T16:36:02.346279+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1246","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nog has been classified as Amber List (Moderate Evidence).","entity_name":"NOG","entity_type":"gene"},{"created":"2021-12-13T16:34:57.396553+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1245","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NKX3-2 as ready","entity_name":"NKX3-2","entity_type":"gene"},{"created":"2021-12-13T16:34:57.387219+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1245","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nkx3-2 has been classified as Green List (High Evidence).","entity_name":"NKX3-2","entity_type":"gene"},{"created":"2021-12-13T16:34:53.533010+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1245","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NKX3-2 were changed from SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA to Spondylo-megaepiphyseal-metaphyseal dysplasia (MIM#613330)","entity_name":"NKX3-2","entity_type":"gene"},{"created":"2021-12-13T16:34:41.834139+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1244","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NKX3-2 were set to ","entity_name":"NKX3-2","entity_type":"gene"},{"created":"2021-12-13T16:34:03.105240+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1243","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GCDH as ready","entity_name":"GCDH","entity_type":"gene"},{"created":"2021-12-13T16:34:03.093391+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1243","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gcdh has been classified as Green List (High Evidence).","entity_name":"GCDH","entity_type":"gene"},{"created":"2021-12-13T16:33:58.515083+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1243","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GCDH were changed from GLUTARICACIDEMIA TYPE 1 to Glutaric aciduria, type I MIM#231670","entity_name":"GCDH","entity_type":"gene"},{"created":"2021-12-13T16:33:42.879738+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1242","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GCDH were set to ","entity_name":"GCDH","entity_type":"gene"},{"created":"2021-12-13T16:33:08.625091+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10208","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COMT as ready","entity_name":"COMT","entity_type":"gene"},{"created":"2021-12-13T16:33:08.611165+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10208","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: comt has been classified as Red List (Low Evidence).","entity_name":"COMT","entity_type":"gene"},{"created":"2021-12-13T16:32:57.121999+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10208","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: COMT as Red List (low evidence)","entity_name":"COMT","entity_type":"gene"},{"created":"2021-12-13T16:32:57.112315+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10208","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: comt has been classified as Red List (Low Evidence).","entity_name":"COMT","entity_type":"gene"},{"created":"2021-12-13T16:13:08.045990+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10207","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: FAT4: Rating: GREEN; Mode of pathogenicity: None; Publications: 29681106; Phenotypes: Hennekam lymphangiectasia-lymphedema syndrome 2 MIM#616006, Van Maldergem syndrome 2 MIM#615546; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"FAT4","entity_type":"gene"}]}