{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1164","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1162","results":[{"created":"2021-10-24T18:01:09.167721+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CLN8 was added\ngene: CLN8 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLN8 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 8; NEURONAL CEROID LIPOFUSCINOSIS TYPE 8 NORTHERN EPILEPSY VARIANT","entity_name":"CLN8","entity_type":"gene"},{"created":"2021-10-24T18:01:08.653528+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CLN6 was added\ngene: CLN6 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLN6 were set to CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET; CEROID LIPOFUSCINOSIS, NEURONAL, 6","entity_name":"CLN6","entity_type":"gene"},{"created":"2021-10-24T18:01:07.871200+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CLN5 was added\ngene: CLN5 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLN5 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 5","entity_name":"CLN5","entity_type":"gene"},{"created":"2021-10-24T18:01:07.362950+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CLN3 was added\ngene: CLN3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLN3 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 3","entity_name":"CLN3","entity_type":"gene"},{"created":"2021-10-24T18:01:06.652044+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CLDN19 was added\ngene: CLDN19 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLDN19 were set to HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT","entity_name":"CLDN19","entity_type":"gene"},{"created":"2021-10-24T18:01:05.866376+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CISD2 was added\ngene: CISD2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: CISD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CISD2 were set to WOLFRAM SYNDROME TYPE 2","entity_name":"CISD2","entity_type":"gene"},{"created":"2021-10-24T18:01:05.360114+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CIB2 was added\ngene: CIB2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: CIB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CIB2 were set to NONSYNDROMIC DEAFNESS DFNB48; USHER SYNDROME TYPE 1J","entity_name":"CIB2","entity_type":"gene"},{"created":"2021-10-24T18:01:04.645337+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHRNA4 was added\ngene: CHRNA4 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: CHRNA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CHRNA4 were set to NOCTURNAL FRONTAL LOBE EPILEPSY TYPE 1","entity_name":"CHRNA4","entity_type":"gene"},{"created":"2021-10-24T18:01:04.070270+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHRDL1 was added\ngene: CHRDL1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: CHRDL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CHRDL1 were set to MEGALOCORNEA, X-LINKED","entity_name":"CHRDL1","entity_type":"gene"},{"created":"2021-10-24T18:01:03.348356+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHD2 was added\ngene: CHD2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: CHD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CHD2 were set to EPILEPTIC ENCEPHALOPATHY","entity_name":"CHD2","entity_type":"gene"},{"created":"2021-10-24T18:01:02.759099+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CCNO was added\ngene: CCNO was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: CCNO was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCNO were set to 30166424\nPhenotypes for gene: CCNO were set to CILIARY DYSKINESIA, PRIMARY, 29","entity_name":"CCNO","entity_type":"gene"},{"created":"2021-10-24T18:01:01.882511+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CCDC65 was added\ngene: CCDC65 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: CCDC65 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC65 were set to 30166424\nPhenotypes for gene: CCDC65 were set to PRIMARY CILIARY DYSKINESIA","entity_name":"CCDC65","entity_type":"gene"},{"created":"2021-10-24T18:01:01.159303+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CCDC115 was added\ngene: CCDC115 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: CCDC115 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CCDC115 were set to Disorder of Golgi homeostasis","entity_name":"CCDC115","entity_type":"gene"},{"created":"2021-10-24T18:00:59.660637+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CC2D1A was added\ngene: CC2D1A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: CC2D1A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CC2D1A were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 3","entity_name":"CC2D1A","entity_type":"gene"},{"created":"2021-10-24T18:00:59.155208+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CBS was added\ngene: CBS was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CBS were set to CYSTATHIONINE BETA-SYNTHASE DEFICIENCY","entity_name":"CBS","entity_type":"gene"},{"created":"2021-10-24T18:00:58.370180+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CAVIN1 was added\ngene: CAVIN1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: CAVIN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CAVIN1 were set to Lipodystrophy, congenital generalized, type 4  613327","entity_name":"CAVIN1","entity_type":"gene"},{"created":"2021-10-24T18:00:57.865719+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CALCRL was added\ngene: CALCRL was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: CALCRL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CALCRL were set to 16537897; 30115739\nPhenotypes for gene: CALCRL were set to Lymphatic malformation 8, MONDO:0032907; Lymphatic malformation 8, OMIM:618773; Hydrops fetalis","entity_name":"CALCRL","entity_type":"gene"},{"created":"2021-10-24T18:00:57.157196+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CAD was added\ngene: CAD was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: CAD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CAD were set to Uridine-responsive epileptic encephalopathy","entity_name":"CAD","entity_type":"gene"},{"created":"2021-10-24T18:00:56.563644+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C4orf26 was added\ngene: C4orf26 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: C4orf26 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C4orf26 were set to 22901946\nPhenotypes for gene: C4orf26 were set to Amelogenesis imperfecta, type IIA4, 614832","entity_name":"C4orf26","entity_type":"gene"},{"created":"2021-10-24T18:00:55.852975+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C2orf71 was added\ngene: C2orf71 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: C2orf71 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C2orf71 were set to RETINITIS PIGMENTOSA 54","entity_name":"C2orf71","entity_type":"gene"},{"created":"2021-10-24T18:00:55.350420+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BRWD3 was added\ngene: BRWD3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: BRWD3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: BRWD3 were set to MENTAL RETARDATION X-LINKED TYPE 93","entity_name":"BRWD3","entity_type":"gene"},{"created":"2021-10-24T18:00:54.567256+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BRCA1 was added\ngene: BRCA1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: BRCA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BRCA1 were set to INTELLECTUAL DISABILITY","entity_name":"BRCA1","entity_type":"gene"},{"created":"2021-10-24T18:00:54.060373+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BCKDHB was added\ngene: BCKDHB was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BCKDHB were set to MAPLE SYRUP URINE DISEASE","entity_name":"BCKDHB","entity_type":"gene"},{"created":"2021-10-24T18:00:53.351514+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BCKDHA was added\ngene: BCKDHA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: BCKDHA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BCKDHA were set to MAPLE SYRUP URINE DISEASE","entity_name":"BCKDHA","entity_type":"gene"},{"created":"2021-10-24T18:00:52.572553+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AUTS2 was added\ngene: AUTS2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: AUTS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: AUTS2 were set to SYNDROMIC INTELLECTUAL DISABILITY","entity_name":"AUTS2","entity_type":"gene"},{"created":"2021-10-24T18:00:52.068067+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AUH was added\ngene: AUH was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AUH were set to 3-METHYLGLUTACONIC ACIDURIA TYPE 1","entity_name":"AUH","entity_type":"gene"},{"created":"2021-10-24T18:00:51.356626+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP8B1 was added\ngene: ATP8B1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ATP8B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP8B1 were set to ATP8B1-RELATED INTRAHEPATIC CHOLESTASIS","entity_name":"ATP8B1","entity_type":"gene"},{"created":"2021-10-24T18:00:50.851771+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP6V1B1 was added\ngene: ATP6V1B1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ATP6V1B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP6V1B1 were set to DISTAL RENAL TUBULAR ACIDOSIS WITH DEAFNESS","entity_name":"ATP6V1B1","entity_type":"gene"},{"created":"2021-10-24T18:00:50.070342+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP1A3 was added\ngene: ATP1A3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ATP1A3 were set to RAPID-ONSET DYSTONIA-PARKINSONISM; ALTERNATING HEMIPLEGIA OF CHILDHOOD","entity_name":"ATP1A3","entity_type":"gene"},{"created":"2021-10-24T18:00:49.565235+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP13A2 was added\ngene: ATP13A2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP13A2 were set to PARKINSON DISEASE 9","entity_name":"ATP13A2","entity_type":"gene"},{"created":"2021-10-24T18:00:48.853180+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATM was added\ngene: ATM was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATM were set to ATAXIA-TELANGIECTASIA","entity_name":"ATM","entity_type":"gene"},{"created":"2021-10-24T18:00:48.266489+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ASL was added\ngene: ASL was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ASL were set to ARGININOSUCCINATE LYASE DEFICIENCY","entity_name":"ASL","entity_type":"gene"},{"created":"2021-10-24T18:00:47.557878+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ARG1 was added\ngene: ARG1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARG1 were set to ARGININEMIA","entity_name":"ARG1","entity_type":"gene"},{"created":"2021-10-24T18:00:47.053870+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: APTX was added\ngene: APTX was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: APTX were set to ATAXIA WITH OCULOMOTOR APRAXIA 1","entity_name":"APTX","entity_type":"gene"},{"created":"2021-10-24T18:00:46.272077+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: APOPT1 was added\ngene: APOPT1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: APOPT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: APOPT1 were set to MITOCHONDRIAL COMPLEX IV DEFICIENCY","entity_name":"APOPT1","entity_type":"gene"},{"created":"2021-10-24T18:00:45.765752+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AP3B1 was added\ngene: AP3B1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: AP3B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AP3B1 were set to Hermansky-Pudlak syndrome 2 608233","entity_name":"AP3B1","entity_type":"gene"},{"created":"2021-10-24T18:00:45.054225+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ANO5 was added\ngene: ANO5 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ANO5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: ANO5 were set to GNATHODIAPHYSEAL DYSPLASIA; MIYOSHI MUSCULAR DYSTROPHY TYPE 3","entity_name":"ANO5","entity_type":"gene"},{"created":"2021-10-24T18:00:44.546098+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALS2 was added\ngene: ALS2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALS2 were set to ALS2-RELATED DISORDERS","entity_name":"ALS2","entity_type":"gene"},{"created":"2021-10-24T18:00:43.767603+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALDOB was added\ngene: ALDOB was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALDOB were set to HEREDITARY FRUCTOSE INTOLERANCE","entity_name":"ALDOB","entity_type":"gene"},{"created":"2021-10-24T18:00:43.259381+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALDH5A1 was added\ngene: ALDH5A1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALDH5A1 were set to SUCCINATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY","entity_name":"ALDH5A1","entity_type":"gene"},{"created":"2021-10-24T18:00:42.551101+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALDH4A1 was added\ngene: ALDH4A1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ALDH4A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALDH4A1 were set to HYPERPROLINEMIA TYPE 2","entity_name":"ALDH4A1","entity_type":"gene"},{"created":"2021-10-24T18:00:42.055207+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALAD was added\ngene: ALAD was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ALAD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALAD were set to ACUTE HEPATIC PORPHYRIA","entity_name":"ALAD","entity_type":"gene"},{"created":"2021-10-24T18:00:41.263274+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AKR1D1 was added\ngene: AKR1D1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AKR1D1 were set to BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2","entity_name":"AKR1D1","entity_type":"gene"},{"created":"2021-10-24T18:00:40.758166+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AK2 was added\ngene: AK2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AK2 were set to RETICULAR DYSGENESIS","entity_name":"AK2","entity_type":"gene"},{"created":"2021-10-24T18:00:40.046426+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AIRE was added\ngene: AIRE was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: AIRE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AIRE were set to AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME TYPE 1","entity_name":"AIRE","entity_type":"gene"},{"created":"2021-10-24T18:00:39.470197+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AIPL1 was added\ngene: AIPL1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: AIPL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AIPL1 were set to LEBER CONGENITAL AMAUROSIS 4","entity_name":"AIPL1","entity_type":"gene"},{"created":"2021-10-24T18:00:38.763033+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AGXT was added\ngene: AGXT was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGXT were set to HYPEROXALURIA, PRIMARY, TYPE 1","entity_name":"AGXT","entity_type":"gene"},{"created":"2021-10-24T18:00:38.251653+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AGRN was added\ngene: AGRN was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: AGRN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AGRN were set to 31730230\nPhenotypes for gene: AGRN were set to Fetal akinesia deformation sequence (FADS)","entity_name":"AGRN","entity_type":"gene"},{"created":"2021-10-24T18:00:37.470758+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AGPAT2 was added\ngene: AGPAT2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: AGPAT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AGPAT2 were set to 22902344\nPhenotypes for gene: AGPAT2 were set to Lipodystrophy 608594","entity_name":"AGPAT2","entity_type":"gene"},{"created":"2021-10-24T18:00:36.971454+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AGA was added\ngene: AGA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGA were set to ASPARTYLGLUCOSAMINURIA","entity_name":"AGA","entity_type":"gene"},{"created":"2021-10-24T18:00:36.261984+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AFF2 was added\ngene: AFF2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: AFF2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: AFF2 were set to FRAGILE X-E MENTAL RETARDATION SYNDROME","entity_name":"AFF2","entity_type":"gene"},{"created":"2021-10-24T18:00:35.755077+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ADA was added\ngene: ADA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADA were set to ADENOSINE DEAMINASE DEFICIENCY","entity_name":"ADA","entity_type":"gene"},{"created":"2021-10-24T18:00:34.970375+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACVRL1 was added\ngene: ACVRL1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2 600376","entity_name":"ACVRL1","entity_type":"gene"},{"created":"2021-10-24T18:00:34.463662+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACAT1 was added\ngene: ACAT1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACAT1 were set to ALPHA-METHYLACETOACETIC ACIDURIA","entity_name":"ACAT1","entity_type":"gene"},{"created":"2021-10-24T18:00:33.756022+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACADS was added\ngene: ACADS was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ACADS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACADS were set to SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY","entity_name":"ACADS","entity_type":"gene"},{"created":"2021-10-24T18:00:33.048588+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACADM was added\ngene: ACADM was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACADM were set to MEDIUM CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY","entity_name":"ACADM","entity_type":"gene"},{"created":"2021-10-24T18:00:32.475176+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ABCD1 was added\ngene: ABCD1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ABCD1 were set to ADRENOLEUKODYSTROPHY, X-LINKED","entity_name":"ABCD1","entity_type":"gene"},{"created":"2021-10-24T18:00:31.763126+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ABCC8 was added\ngene: ABCC8 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ABCC8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ABCC8 were set to Hyperinsulinemic hypoglycemia, familial 256450","entity_name":"ABCC8","entity_type":"gene"},{"created":"2021-10-24T18:00:31.253625+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ABCB7 was added\ngene: ABCB7 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ABCB7 were set to ANEMIA, SIDEROBLASTIC, WITH ATAXIA","entity_name":"ABCB7","entity_type":"gene"},{"created":"2021-10-24T18:00:30.468373+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ABCB11 was added\ngene: ABCB11 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ABCB11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABCB11 were set to ABCB11-RELATED INTRAHEPATIC CHOLESTASIS","entity_name":"ABCB11","entity_type":"gene"},{"created":"2021-10-24T18:00:29.961286+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZSWIM6 was added\ngene: ZSWIM6 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ZSWIM6 were set to ACROMELIC FRONTONASAL DYSOSTOSIS","entity_name":"ZSWIM6","entity_type":"gene"},{"created":"2021-10-24T18:00:29.256626+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZNF750 was added\ngene: ZNF750 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: ZNF750 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ZNF750 were set to SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS","entity_name":"ZNF750","entity_type":"gene"},{"created":"2021-10-24T18:00:28.755489+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZNF462 was added\ngene: ZNF462 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: ZNF462 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ZNF462 were set to Craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay","entity_name":"ZNF462","entity_type":"gene"},{"created":"2021-10-24T18:00:27.971295+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZNF423 was added\ngene: ZNF423 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: ZNF423 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: ZNF423 were set to 22863007\nPhenotypes for gene: ZNF423 were set to Joubert syndrome 19 614844; Nephronophthisis 14  614844","entity_name":"ZNF423","entity_type":"gene"},{"created":"2021-10-24T18:00:27.471718+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZMYND11 was added\ngene: ZMYND11 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: ZMYND11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ZMYND11 were set to INTELLECTUAL DISABILITY","entity_name":"ZMYND11","entity_type":"gene"},{"created":"2021-10-24T18:00:26.757225+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZMYND10 was added\ngene: ZMYND10 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: ZMYND10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ZMYND10 were set to PRIMARY CILIARY DYSKINESIA-22","entity_name":"ZMYND10","entity_type":"gene"},{"created":"2021-10-24T18:00:26.252598+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: YWHAG was added\ngene: YWHAG was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: YWHAG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: YWHAG were set to Early-Onset Epilepsy","entity_name":"YWHAG","entity_type":"gene"},{"created":"2021-10-24T18:00:25.468589+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: YAP1 was added\ngene: YAP1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: YAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: YAP1 were set to COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION","entity_name":"YAP1","entity_type":"gene"},{"created":"2021-10-24T18:00:24.965904+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: XYLT2 was added\ngene: XYLT2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: XYLT2 were set to SPONDYLOOCULAR SYNDROME","entity_name":"XYLT2","entity_type":"gene"},{"created":"2021-10-24T18:00:24.258832+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WWOX was added\ngene: WWOX was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: WWOX was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WWOX were set to SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28","entity_name":"WWOX","entity_type":"gene"},{"created":"2021-10-24T18:00:23.755692+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WNT4 was added\ngene: WNT4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: WNT4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: WNT4 were set to MULLERIAN APLASIA AND HYPERANDROGENISM; SERKAL SYNDROME","entity_name":"WNT4","entity_type":"gene"},{"created":"2021-10-24T18:00:22.971237+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WNT3 was added\ngene: WNT3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: WNT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WNT3 were set to 18837045; 16283889; 14872406\nPhenotypes for gene: WNT3 were set to TETRA-AMELIA SYNDROME","entity_name":"WNT3","entity_type":"gene"},{"created":"2021-10-24T18:00:22.472826+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WDR81 was added\ngene: WDR81 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WDR81 were set to 28556411\nPhenotypes for gene: WDR81 were set to Hydrocephalus, congenital, 3, with brain anomalies, MONDO:0054794; Hydrocephalus, congenital, 3, with brain anomalies, OMIM:617967","entity_name":"WDR81","entity_type":"gene"},{"created":"2021-10-24T18:00:21.762266+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WDR73 was added\ngene: WDR73 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: WDR73 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WDR73 were set to Galloway-Mowat syndrome 1, 251300; GALLOWAY-MOWAT SYNDROME: MICROCEPHALY AND STEROID-RESISTANT NEPHROTIC SYNDROME","entity_name":"WDR73","entity_type":"gene"},{"created":"2021-10-24T18:00:21.257198+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WBP11 was added\ngene: WBP11 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: WBP11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: WBP11 were set to 33276377\nPhenotypes for gene: WBP11 were set to Vertebral, cardiac, tracheoesophageal, renal, and limb defects, OMIM:619227","entity_name":"WBP11","entity_type":"gene"},{"created":"2021-10-24T18:00:20.548492+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: VRK1 was added\ngene: VRK1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VRK1 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 1","entity_name":"VRK1","entity_type":"gene"},{"created":"2021-10-24T18:00:20.048496+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: VEGFC was added\ngene: VEGFC was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: VEGFC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: VEGFC were set to Lymphatic malformation 4","entity_name":"VEGFC","entity_type":"gene"},{"created":"2021-10-24T18:00:19.265317+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: VDR was added\ngene: VDR was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: VDR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VDR were set to RICKETS VITAMIN D-DEPENDENT TYPE 2A","entity_name":"VDR","entity_type":"gene"},{"created":"2021-10-24T18:00:18.766483+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: VAMP1 was added\ngene: VAMP1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: VAMP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VAMP1 were set to 28600779; 28168212; 28253535\nPhenotypes for gene: VAMP1 were set to Myasthenic syndrome, congenital, 25","entity_name":"VAMP1","entity_type":"gene"},{"created":"2021-10-24T18:00:18.051255+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: USP9X was added\ngene: USP9X was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: USP9X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: USP9X were set to MENTAL RETARDATION, X-LINKED 99","entity_name":"USP9X","entity_type":"gene"},{"created":"2021-10-24T18:00:17.550601+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: USP27X was added\ngene: USP27X was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: USP27X was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: USP27X were set to INTELLECTUAL DISABILITY","entity_name":"USP27X","entity_type":"gene"},{"created":"2021-10-24T18:00:16.765931+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: USP18 was added\ngene: USP18 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: USP18 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: USP18 were set to 27325888; 12833411; 31940699\nPhenotypes for gene: USP18 were set to Pseudo-TORCH syndrome 2, 617397","entity_name":"USP18","entity_type":"gene"},{"created":"2021-10-24T18:00:16.269698+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: UQCRQ was added\ngene: UQCRQ was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: UQCRQ was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UQCRQ were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRQ RELATED","entity_name":"UQCRQ","entity_type":"gene"},{"created":"2021-10-24T18:00:15.557053+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: UQCRB was added\ngene: UQCRB was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: UQCRB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UQCRB were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRB-RELATED","entity_name":"UQCRB","entity_type":"gene"},{"created":"2021-10-24T18:00:15.053925+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: UBTF was added\ngene: UBTF was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: UBTF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: UBTF were set to Childhood-Onset Neurodegeneration","entity_name":"UBTF","entity_type":"gene"},{"created":"2021-10-24T18:00:14.346231+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: UBE2T was added\ngene: UBE2T was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UBE2T were set to 26046368\nPhenotypes for gene: UBE2T were set to FANCONI ANEMIA, COMPLEMENTATION GROUP T","entity_name":"UBE2T","entity_type":"gene"},{"created":"2021-10-24T18:00:13.846778+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TXNDC15 was added\ngene: TXNDC15 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TXNDC15 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TXNDC15 were set to 27894351\nPhenotypes for gene: TXNDC15 were set to Meckel Gruber syndrome","entity_name":"TXNDC15","entity_type":"gene"},{"created":"2021-10-24T18:00:13.072079+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TUFM was added\ngene: TUFM was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TUFM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TUFM were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4","entity_name":"TUFM","entity_type":"gene"},{"created":"2021-10-24T18:00:12.566150+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TUBGCP4 was added\ngene: TUBGCP4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TUBGCP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TUBGCP4 were set to 25817018\nPhenotypes for gene: TUBGCP4 were set to AUTOSOMAL-RECESSIVE MICROCEPHALY WITH CHORIORETINOPATHY.","entity_name":"TUBGCP4","entity_type":"gene"},{"created":"2021-10-24T18:00:11.862552+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TUBG1 was added\ngene: TUBG1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TUBG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TUBG1 were set to 27010057; 23603762\nPhenotypes for gene: TUBG1 were set to Posteriorly predominant pachygyria and severe microcephaly","entity_name":"TUBG1","entity_type":"gene"},{"created":"2021-10-24T18:00:11.360703+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TUBB3 was added\ngene: TUBB3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TUBB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TUBB3 were set to 32573066\nPhenotypes for gene: TUBB3 were set to CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1; CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES","entity_name":"TUBB3","entity_type":"gene"},{"created":"2021-10-24T18:00:10.654153+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TTI2 was added\ngene: TTI2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TTI2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TTI2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION","entity_name":"TTI2","entity_type":"gene"},{"created":"2021-10-24T18:00:10.151961+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TTC25 was added\ngene: TTC25 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TTC25 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TTC25 were set to Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization","entity_name":"TTC25","entity_type":"gene"},{"created":"2021-10-24T18:00:09.448226+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TSFM was added\ngene: TSFM was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TSFM were set to 31267352\nPhenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency 3","entity_name":"TSFM","entity_type":"gene"},{"created":"2021-10-24T18:00:08.946570+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TSEN34 was added\ngene: TSEN34 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TSEN34 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TSEN34 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4","entity_name":"TSEN34","entity_type":"gene"},{"created":"2021-10-24T18:00:08.158821+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TSEN2 was added\ngene: TSEN2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TSEN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TSEN2 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4","entity_name":"TSEN2","entity_type":"gene"},{"created":"2021-10-24T18:00:07.655111+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TSEN15 was added\ngene: TSEN15 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TSEN15 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TSEN15 were set to Pontocerebellar Hypoplasia and Progressive Microcephaly","entity_name":"TSEN15","entity_type":"gene"},{"created":"2021-10-24T18:00:06.878341+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TRPV3 was added\ngene: TRPV3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TRPV3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: TRPV3 were set to OLMSTED SYNDROME","entity_name":"TRPV3","entity_type":"gene"},{"created":"2021-10-24T18:00:06.345234+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TRPM7 was added\ngene: TRPM7 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TRPM7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRPM7 were set to 32503408; 31423533\nPhenotypes for gene: TRPM7 were set to Cardiac arrhythmia, stillbirth","entity_name":"TRPM7","entity_type":"gene"},{"created":"2021-10-24T18:00:05.513887+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TRMT10C was added\ngene: TRMT10C was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TRMT10C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRMT10C were set to Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies","entity_name":"TRMT10C","entity_type":"gene"}]}