{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1122","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1120","results":[{"created":"2021-11-22T16:54:56.240241+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.638","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mmadhc has been classified as Red List (Low Evidence).","entity_name":"MMADHC","entity_type":"gene"},{"created":"2021-11-22T16:53:56.451502+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.637","user_name":"Krithika Murali","item_type":"entity","text":"gene: GATA1 was added\ngene: GATA1 was added to Fetal anomalies. Sources: Expert list\nMode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: GATA1 were set to 10700180\nPhenotypes for gene: GATA1 were set to Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM#300835\nReview for gene: GATA1 was set to GREEN\nAdded comment: Can present with severe hydrops in utero requiring transfusion. \nSources: Expert list","entity_name":"GATA1","entity_type":"gene"},{"created":"2021-11-22T16:53:36.338187+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.637","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIAA1109 as ready","entity_name":"KIAA1109","entity_type":"gene"},{"created":"2021-11-22T16:53:36.327771+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.637","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kiaa1109 has been classified as Green List (High Evidence).","entity_name":"KIAA1109","entity_type":"gene"},{"created":"2021-11-22T16:53:35.584053+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9808","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KCTD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCTD1","entity_type":"gene"},{"created":"2021-11-22T16:53:07.487922+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.637","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KIAA1109 were changed from Brain atrophy, Dandy Walker and Contractures; Alkuraya-Kucinskas syndrome, 617822 to Alkuraya-Kucinskas syndrome MIM#617822","entity_name":"KIAA1109","entity_type":"gene"},{"created":"2021-11-22T16:53:07.343097+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.636","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCTD1 as ready","entity_name":"KCTD1","entity_type":"gene"},{"created":"2021-11-22T16:53:07.332571+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.636","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kctd1 has been classified as Amber List (Moderate Evidence).","entity_name":"KCTD1","entity_type":"gene"},{"created":"2021-11-22T16:52:54.797335+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.636","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KIAA1109 were set to 28749478; 30485398; 29290337","entity_name":"KIAA1109","entity_type":"gene"},{"created":"2021-11-22T16:52:18.703395+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.635","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCTD1 were changed from SCALP-EAR-NIPPLE SYNDROME to Scalp-ear-nipple syndrome MIM#181270","entity_name":"KCTD1","entity_type":"gene"},{"created":"2021-11-22T16:52:06.230859+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.634","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KCTD1 were set to ","entity_name":"KCTD1","entity_type":"gene"},{"created":"2021-11-22T16:51:53.215071+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9807","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNJ2 as ready","entity_name":"KCNJ2","entity_type":"gene"},{"created":"2021-11-22T16:51:53.205124+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9807","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnj2 has been classified as Green List (High Evidence).","entity_name":"KCNJ2","entity_type":"gene"},{"created":"2021-11-22T16:51:52.925341+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.633","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KCTD1 as Amber List (moderate evidence)","entity_name":"KCTD1","entity_type":"gene"},{"created":"2021-11-22T16:51:52.915723+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.633","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kctd1 has been classified as Amber List (Moderate Evidence).","entity_name":"KCTD1","entity_type":"gene"},{"created":"2021-11-22T16:50:53.633449+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9807","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCNJ2 were changed from  to Andersen syndrome MIM#170390; Atrial fibrillation, familial, 9 MIM#613980; Short QT syndrome 3 MIM#609622","entity_name":"KCNJ2","entity_type":"gene"},{"created":"2021-11-22T16:50:50.558430+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.632","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MMACHC as ready","entity_name":"MMACHC","entity_type":"gene"},{"created":"2021-11-22T16:50:50.538791+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.632","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mmachc has been classified as Green List (High Evidence).","entity_name":"MMACHC","entity_type":"gene"},{"created":"2021-11-22T16:50:39.750327+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.632","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MMACHC were changed from METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE to Methylmalonic aciduria and homocystinuria, cblC type, (MIM#277400)","entity_name":"MMACHC","entity_type":"gene"},{"created":"2021-11-22T16:50:26.722076+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9806","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: KCNJ2 was changed from  to Other","entity_name":"KCNJ2","entity_type":"gene"},{"created":"2021-11-22T16:50:14.493365+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.631","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MMACHC were set to ","entity_name":"MMACHC","entity_type":"gene"},{"created":"2021-11-22T16:49:28.663395+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9805","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KCNJ2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNJ2","entity_type":"gene"},{"created":"2021-11-22T16:49:27.890907+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9804","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MID1 as ready","entity_name":"MID1","entity_type":"gene"},{"created":"2021-11-22T16:49:27.879883+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9804","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mid1 has been classified as Green List (High Evidence).","entity_name":"MID1","entity_type":"gene"},{"created":"2021-11-22T16:49:14.510258+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9804","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MID1 were changed from  to Opitz GBBB syndrome, type I (MIM#300000)","entity_name":"MID1","entity_type":"gene"},{"created":"2021-11-22T16:48:50.691055+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9803","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MID1 were set to ","entity_name":"MID1","entity_type":"gene"},{"created":"2021-11-22T16:48:34.710166+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.630","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNJ2 as ready","entity_name":"KCNJ2","entity_type":"gene"},{"created":"2021-11-22T16:48:34.700773+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.630","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnj2 has been classified as Green List (High Evidence).","entity_name":"KCNJ2","entity_type":"gene"},{"created":"2021-11-22T16:48:20.608565+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.630","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCNJ2 were changed from Andersen syndrome, OMIM:170390; Andersen-Tawil syndrome, MONDO:0008222 to Andersen syndrome, OMIM:170390; Andersen-Tawil syndrome, MONDO:0008222","entity_name":"KCNJ2","entity_type":"gene"},{"created":"2021-11-22T16:48:05.155181+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.629","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KCNJ2 were set to ","entity_name":"KCNJ2","entity_type":"gene"},{"created":"2021-11-22T16:47:50.660947+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.628","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KCNJ2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNJ2","entity_type":"gene"},{"created":"2021-11-22T16:46:56.698586+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9802","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MID1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"MID1","entity_type":"gene"},{"created":"2021-11-22T16:46:29.763990+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.627","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MID1 as ready","entity_name":"MID1","entity_type":"gene"},{"created":"2021-11-22T16:46:29.740749+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.627","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mid1 has been classified as Green List (High Evidence).","entity_name":"MID1","entity_type":"gene"},{"created":"2021-11-22T16:46:26.594179+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.627","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MLC1 as ready","entity_name":"MLC1","entity_type":"gene"},{"created":"2021-11-22T16:46:26.563404+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.627","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mlc1 has been classified as Green List (High Evidence).","entity_name":"MLC1","entity_type":"gene"},{"created":"2021-11-22T16:46:21.641299+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.627","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MLC1 were changed from LEUKOENCEPHALOPATHY MEGALENCEPHALIC WITH SUBCORTICAL CYSTS to Megalencephalic leukoencephalopathy with subcortical cysts (MIM#604004)","entity_name":"MLC1","entity_type":"gene"},{"created":"2021-11-22T16:46:11.415874+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.626","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MID1 were changed from OPITZ G/BBB SYNDROME, X-LINKED to Opitz GBBB syndrome, type I (MIM#300000)","entity_name":"MID1","entity_type":"gene"},{"created":"2021-11-22T16:46:04.163568+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.625","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MLC1 were set to ","entity_name":"MLC1","entity_type":"gene"},{"created":"2021-11-22T16:45:08.137432+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.624","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KAT6B as ready","entity_name":"KAT6B","entity_type":"gene"},{"created":"2021-11-22T16:45:08.121038+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.624","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kat6b has been classified as Green List (High Evidence).","entity_name":"KAT6B","entity_type":"gene"},{"created":"2021-11-22T16:45:06.013166+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.624","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MID1 were set to ","entity_name":"MID1","entity_type":"gene"},{"created":"2021-11-22T16:44:25.947392+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.623","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KAT6B were changed from GENITOPATELLAR SYNDROME; BLEPHAROPHIMOSIS/INTELLECTUAL DISABILITY PHENOTYPE WHICH IS NOONAN-LIKE to SBBYSS syndrome MIM#603736; Genitopatellar syndrome MIM#606170","entity_name":"KAT6B","entity_type":"gene"},{"created":"2021-11-22T16:44:12.026307+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.622","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KAT6A as ready","entity_name":"KAT6A","entity_type":"gene"},{"created":"2021-11-22T16:44:12.015618+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.622","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kat6a has been classified as Green List (High Evidence).","entity_name":"KAT6A","entity_type":"gene"},{"created":"2021-11-22T16:44:07.167952+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.622","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KAT6B were set to ","entity_name":"KAT6B","entity_type":"gene"},{"created":"2021-11-22T16:44:01.054724+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.621","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KAT6A were changed from MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 to Arboleda-Tham syndrome MIM#616268","entity_name":"KAT6A","entity_type":"gene"},{"created":"2021-11-22T16:43:51.247687+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.620","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KAT6B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KAT6B","entity_type":"gene"},{"created":"2021-11-22T16:43:29.043612+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.619","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KAT6A were set to ","entity_name":"KAT6A","entity_type":"gene"},{"created":"2021-11-22T16:42:42.486479+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9801","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KAT6A as ready","entity_name":"KAT6A","entity_type":"gene"},{"created":"2021-11-22T16:42:42.473018+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9801","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kat6a has been classified as Green List (High Evidence).","entity_name":"KAT6A","entity_type":"gene"},{"created":"2021-11-22T16:42:05.280290+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9801","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KAT6A were changed from  to Arboleda-Tham syndrome MIM#616268","entity_name":"KAT6A","entity_type":"gene"},{"created":"2021-11-22T16:41:56.923638+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9800","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MESP2 as ready","entity_name":"MESP2","entity_type":"gene"},{"created":"2021-11-22T16:41:56.912326+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9800","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mesp2 has been classified as Green List (High Evidence).","entity_name":"MESP2","entity_type":"gene"},{"created":"2021-11-22T16:41:37.957610+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9800","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MESP2 were changed from  to Spondylocostal dysostosis 2, autosomal recessive (MIM#608681)","entity_name":"MESP2","entity_type":"gene"},{"created":"2021-11-22T16:41:31.341362+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9799","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KAT6A were set to ","entity_name":"KAT6A","entity_type":"gene"},{"created":"2021-11-22T16:41:15.019961+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9798","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MESP2 were set to ","entity_name":"MESP2","entity_type":"gene"},{"created":"2021-11-22T16:41:04.551249+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9797","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KAT6A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KAT6A","entity_type":"gene"},{"created":"2021-11-22T16:40:51.364362+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9796","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MESP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MESP2","entity_type":"gene"},{"created":"2021-11-22T16:40:30.620887+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9795","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KAT6A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"KAT6A","entity_type":"gene"},{"created":"2021-11-22T16:39:23.439988+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.618","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MESP2 as ready","entity_name":"MESP2","entity_type":"gene"},{"created":"2021-11-22T16:39:23.430935+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.618","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mesp2 has been classified as Green List (High Evidence).","entity_name":"MESP2","entity_type":"gene"},{"created":"2021-11-22T16:39:11.621027+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.618","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MESP2 were changed from SPONDYLOCOSTAL DYSOSTOSIS TYPE 2 to Spondylocostal dysostosis 2, autosomal recessive (MIM#608681)","entity_name":"MESP2","entity_type":"gene"},{"created":"2021-11-22T16:38:59.516477+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.617","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MESP2 were set to ","entity_name":"MESP2","entity_type":"gene"},{"created":"2021-11-22T16:38:36.754431+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9795","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZNF365 as ready","entity_name":"ZNF365","entity_type":"gene"},{"created":"2021-11-22T16:38:36.741996+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9795","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: znf365 has been classified as Red List (Low Evidence).","entity_name":"ZNF365","entity_type":"gene"},{"created":"2021-11-22T16:37:59.583459+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9795","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ZNF365 as Red List (low evidence)","entity_name":"ZNF365","entity_type":"gene"},{"created":"2021-11-22T16:37:59.573978+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9795","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: znf365 has been classified as Red List (Low Evidence).","entity_name":"ZNF365","entity_type":"gene"},{"created":"2021-11-22T16:37:02.656426+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.616","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MEGF10 as ready","entity_name":"MEGF10","entity_type":"gene"},{"created":"2021-11-22T16:37:02.645107+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.616","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: megf10 has been classified as Green List (High Evidence).","entity_name":"MEGF10","entity_type":"gene"},{"created":"2021-11-22T16:36:57.899275+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.616","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MEGF10 were changed from MYOPATHY, EARLY-ONSET, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA to Myopathy, areflexia, respiratory distress, and dysphagia, early-onset (MIM#614399)","entity_name":"MEGF10","entity_type":"gene"},{"created":"2021-11-22T16:36:43.993137+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.615","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MEGF10 were set to ","entity_name":"MEGF10","entity_type":"gene"},{"created":"2021-11-22T16:36:30.278242+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.614","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MEGF10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"MEGF10","entity_type":"gene"},{"created":"2021-11-22T16:35:09.392007+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.614","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MBTPS2 as ready","entity_name":"MBTPS2","entity_type":"gene"},{"created":"2021-11-22T16:35:09.382659+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.614","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mbtps2 has been classified as Green List (High Evidence).","entity_name":"MBTPS2","entity_type":"gene"},{"created":"2021-11-22T16:35:04.615400+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.614","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MBTPS2 were changed from IFAP syndrome with or without BRESHECK syndrome 308205; Keratosis follicularis spinulosa decalvans, X-linked 308800 to IFAP syndrome with or without BRESHECK syndrome MIM#308205; Osteogenesis imperfecta, type XIX, MIM#301014","entity_name":"MBTPS2","entity_type":"gene"},{"created":"2021-11-22T16:33:00.664472+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.613","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MBTPS2 were set to ","entity_name":"MBTPS2","entity_type":"gene"},{"created":"2021-11-22T16:32:45.386606+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.612","user_name":"Krithika Murali","item_type":"entity","text":"gene: ALPK3 was added\ngene: ALPK3 was added to Fetal anomalies. Sources: Expert list,Literature\nMode of inheritance for gene: ALPK3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALPK3 were set to PMID 26846950.\nPhenotypes for gene: ALPK3 were set to Cardiomyopathy, familial hypertrophic 27 - #618052\nReview for gene: ALPK3 was set to GREEN\nAdded comment: Severe neonatal presentation of cardiomyopathy with bi-allelic variants, including antenatal onset with hydrops in 2/7 reported individuals in PMID 26846950.\r\n\r\nPMID 28630369 reports male infant diagnosed antenatally with cardiomyopathy after birth. Born to a nonconsanguineous family with a past history of a male fetus that died because of cardiac abnormalities at 30 wk of gestation. \nSources: Expert list, Literature","entity_name":"ALPK3","entity_type":"gene"},{"created":"2021-11-22T16:20:16.111181+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.612","user_name":"Krithika Murali","item_type":"entity","text":"gene: ZBTB42 was added\ngene: ZBTB42 was added to Fetal anomalies. Sources: Expert list,Literature\nMode of inheritance for gene: ZBTB42 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZBTB42 were set to 25055871\nPhenotypes for gene: ZBTB42 were set to ?Lethal congenital contracture syndrome 6- #616248\nReview for gene: ZBTB42 was set to AMBER\nAdded comment: Homozygous missense variant reported in a family with three stillbirths and a phenotype consistent with LCCS. Supportive zebrafish model. \nSources: Expert list, Literature","entity_name":"ZBTB42","entity_type":"gene"},{"created":"2021-11-22T16:14:49.078038+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.612","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: UNC50: Rating: ; Mode of pathogenicity: None; Publications: 29016857, 33820833; Phenotypes: Arthrogryposis multiplex congenita; Mode of inheritance: None","entity_name":"UNC50","entity_type":"gene"},{"created":"2021-11-22T16:11:41.332291+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.612","user_name":"Krithika Murali","item_type":"entity","text":"gene: UNC50 was added\ngene: UNC50 was added to Fetal anomalies. Sources: Expert list,Literature\nMode of inheritance for gene: UNC50 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UNC50 were set to 29016857; 33820833","entity_name":"UNC50","entity_type":"gene"},{"created":"2021-11-22T16:08:13.343053+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.612","user_name":"Krithika Murali","item_type":"entity","text":"gene: TOR1AIP1 was added\ngene: TOR1AIP1 was added to Fetal anomalies. Sources: Expert list,Literature\nMode of inheritance for gene: TOR1AIP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TOR1AIP1 were set to 33215087; 32055997; 24856141; 31299614; 30723199; 27342937\nPhenotypes for gene: TOR1AIP1 were set to ?Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures - #61707; congenital myasthenic syndrome\nReview for gene: TOR1AIP1 was set to GREEN\nAdded comment: Gene is associated with multiple muscle phenotypes.  Phenotype highly variable. Single family myasthenic syndrome and supportive mouse model data. \nSources: Expert list, Literature","entity_name":"TOR1AIP1","entity_type":"gene"},{"created":"2021-11-22T16:04:25.553090+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.612","user_name":"Dean Phelan","item_type":"entity","text":"reviewed gene: PAX2: Rating: AMBER; Mode of pathogenicity: None; Publications: 21654726, 24676634, 31060108, 32203253; Phenotypes: Papillorenal syndrome, Renal coloboma syndrome, ventricular septal defect, skeletal deformity, ovarian teratoma, growth retardation, gout, microcephaly, developmental disorder, gonadal abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PAX2","entity_type":"gene"},{"created":"2021-11-22T16:01:50.694604+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.612","user_name":"Krithika Murali","item_type":"entity","text":"gene: STIM1 was added\ngene: STIM1 was added to Fetal anomalies. Sources: Expert list,Literature\nMode of inheritance for gene: STIM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: STIM1 were set to 31448844; 20876309\nPhenotypes for gene: STIM1 were set to Immunodeficiency 10 - #612783; Myopathy, tubular aggregate, 1\t- #160565; Stormorken syndrome - #185070\nReview for gene: STIM1 was set to GREEN\nAdded comment: PMID 31448844 (comprehensive review, summarises all published cases, references functional evidence)\r\n\r\nDominant STIM1 missense variants via a GOF mechanism cause a spectrum of myopathy covering tubular aggregate myopathy/TAM and Stormorken syndrome/STRMK (slowly progressive muscle weakness with variable multisystemic disease including non-specific dysmorphism, a/hyposplenia, ichthyosis, cytopenias)\r\n\r\nRecessive STIM1 variants via a LOF mechanism cause a combined immunodeficiency (recurrent and chronic infections, autoimmunity, ectodermal dysplasia, non-progressive myopathy) --> presentations can be severe, death from disseminated Kaposi sarcoma in an HIV negative 2 year old F reported.\r\n\r\nHighly variable phenotype - contractures have been reported in the more severely affected individuals. \nSources: Expert list, Literature","entity_name":"STIM1","entity_type":"gene"},{"created":"2021-11-22T15:54:11.085351+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.612","user_name":"Krithika Murali","item_type":"entity","text":"gene: SCYL2 was added\ngene: SCYL2 was added to Fetal anomalies. Sources: Expert list,Literature\nMode of inheritance for gene: SCYL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCYL2 were set to 31960134; 26203146\nPhenotypes for gene: SCYL2 were set to Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum - #618766\nReview for gene: SCYL2 was set to AMBER\nAdded comment: 2 unrelated consanguineous families reported with AMC (PMID: 31960134).\r\nConstitutive mouse knockout of Scyl2 results in neonatal lethality and severe motor and sensory deficits (PMID: 26203146). \nSources: Expert list, Literature","entity_name":"SCYL2","entity_type":"gene"},{"created":"2021-11-22T15:50:51.367800+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.612","user_name":"Krithika Murali","item_type":"entity","text":"gene: PIP5K1C was added\ngene: PIP5K1C was added to Fetal anomalies. Sources: Expert list,Literature\nMode of inheritance for gene: PIP5K1C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIP5K1C were set to 17701898\nPhenotypes for gene: PIP5K1C were set to Lethal congenital contractural syndrome 3 - #611369\nReview for gene: PIP5K1C was set to AMBER\nAdded comment: Two families reported in 2007 with same homozygous variant, no reports since. Borderline Red/Amber. \nSources: Expert list, Literature","entity_name":"PIP5K1C","entity_type":"gene"},{"created":"2021-11-22T15:45:57.409432+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.612","user_name":"Krithika Murali","item_type":"entity","text":"gene: ORAI1 was added\ngene: ORAI1 was added to Fetal anomalies. Sources: Expert list,Literature\nMode of inheritance for gene: ORAI1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: ORAI1 were set to 31448844\nPhenotypes for gene: ORAI1 were set to Myopathy, tubular aggregate, 2 - #615883\nReview for gene: ORAI1 was set to GREEN\nAdded comment: PMID 31448844 (comprehensive review, summarises all published cases, references functional evidence):\r\n- Dominant ORAI1 missense variants via a GOF mechanism cause a slowly progressive myopathy (tubular aggregate myopathy/TAM)\r\n- Recessive ORAI1 variants via a LOF mechanism cause a combined immunodeficiency (recurrent and chronic infections, autoimmunity, ectodermal dysplasia, non-progressive myopathy) \nSources: Expert list, Literature","entity_name":"ORAI1","entity_type":"gene"},{"created":"2021-11-22T15:43:01.962822+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.612","user_name":"Krithika Murali","item_type":"entity","text":"gene: MYLPF was added\ngene: MYLPF was added to Fetal anomalies. Sources: Expert list,Literature\nMode of inheritance for gene: MYLPF was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: MYLPF were set to 32707087\nPhenotypes for gene: MYLPF were set to Distal arthrogryposis type 1C (DA1C), MIM#619110\nReview for gene: MYLPF was set to AMBER\nAdded comment: MYLPF gene variants associated with dominant and recessive distal arthrogryposis\r\n\r\n6 consanguineous families - homozygous for c.470G>T (p.Cys157Phe) or c.469T>C (p.Cys157Arg) variants\r\n\r\n7th family - hetrozygous c.487G>A (p.Gly163Ser) variant\r\n\r\n8th family - hetrozygous c.98C>T (p.Ala33Val) variant \nSources: Expert list, Literature","entity_name":"MYLPF","entity_type":"gene"},{"created":"2021-11-22T15:36:21.418709+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.310","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CRLF1 as ready","entity_name":"CRLF1","entity_type":"gene"},{"created":"2021-11-22T15:36:21.409312+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.310","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: crlf1 has been classified as Green List (High Evidence).","entity_name":"CRLF1","entity_type":"gene"},{"created":"2021-11-22T15:36:18.157155+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.310","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CRLF1 were changed from  to Cold-induced sweating syndrome 1, MIM#272430","entity_name":"CRLF1","entity_type":"gene"},{"created":"2021-11-22T15:33:26.509995+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.309","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CRLF1 were set to ","entity_name":"CRLF1","entity_type":"gene"},{"created":"2021-11-22T15:33:01.590795+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.308","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CRLF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CRLF1","entity_type":"gene"},{"created":"2021-11-22T15:31:52.606389+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.307","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CRLF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12509788, 17436251, 17436252; Phenotypes: Cold-induced sweating syndrome 1, MIM#272430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CRLF1","entity_type":"gene"},{"created":"2021-11-22T15:30:09.531422+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9794","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CRLF1 as ready","entity_name":"CRLF1","entity_type":"gene"},{"created":"2021-11-22T15:30:09.518999+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9794","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: crlf1 has been classified as Green List (High Evidence).","entity_name":"CRLF1","entity_type":"gene"},{"created":"2021-11-22T15:30:01.352854+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9794","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CRLF1 were changed from  to Cold-induced sweating syndrome 1, MIM#272430","entity_name":"CRLF1","entity_type":"gene"},{"created":"2021-11-22T15:29:40.157698+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9793","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CRLF1 were set to ","entity_name":"CRLF1","entity_type":"gene"},{"created":"2021-11-22T15:29:14.956314+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9792","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CRLF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CRLF1","entity_type":"gene"},{"created":"2021-11-22T15:28:37.319678+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9791","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CRLF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12509788, 17436251, 17436252; Phenotypes: Cold-induced sweating syndrome 1, MIM#272430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CRLF1","entity_type":"gene"}]}