{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1169","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1167","results":[{"created":"2021-10-24T17:56:29.148334+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CLMP was added\ngene: CLMP was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CLMP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLMP were set to CONGENITAL SHORT BOWEL SYNDROME","entity_name":"CLMP","entity_type":"gene"},{"created":"2021-10-24T17:56:28.753968+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CLCNKB was added\ngene: CLCNKB was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CLCNKB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLCNKB were set to BARTTER SYNDROME TYPE 4B","entity_name":"CLCNKB","entity_type":"gene"},{"created":"2021-10-24T17:56:28.355513+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CIT was added\ngene: CIT was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CIT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CIT were set to Microcephaly 17, primary, autosomal recessive, OMIM:617090; Microcephaly 17, primary, autosomal recessive, MONDO:0014908","entity_name":"CIT","entity_type":"gene"},{"created":"2021-10-24T17:56:27.754389+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHRNE was added\ngene: CHRNE was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CHRNE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: CHRNE were set to Myasthenic syndrome, congenital, 4A, slow-channel, 605809; Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931","entity_name":"CHRNE","entity_type":"gene"},{"created":"2021-10-24T17:56:27.363570+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHRNB2 was added\ngene: CHRNB2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CHRNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CHRNB2 were set to CHRNB2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT; NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT","entity_name":"CHRNB2","entity_type":"gene"},{"created":"2021-10-24T17:56:26.761405+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHRNB1 was added\ngene: CHRNB1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CHRNB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: CHRNB1 were set to ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314; Myasthenic syndrome, congenital, 2A, slow-channel, 616313","entity_name":"CHRNB1","entity_type":"gene"},{"created":"2021-10-24T17:56:26.363087+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHRNA3 was added\ngene: CHRNA3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CHRNA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHRNA3 were set to Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, 191800","entity_name":"CHRNA3","entity_type":"gene"},{"created":"2021-10-24T17:56:25.964180+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHMP1A was added\ngene: CHMP1A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CHMP1A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHMP1A were set to Pontocerebellar hypoplasia type 8, MONDO:0013990; Pontocerebellar hypoplasia, type 8, OMIM:614961","entity_name":"CHMP1A","entity_type":"gene"},{"created":"2021-10-24T17:56:25.366999+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHD8 was added\ngene: CHD8 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CHD8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CHD8 were set to AUTISM","entity_name":"CHD8","entity_type":"gene"},{"created":"2021-10-24T17:56:24.961848+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHD3 was added\ngene: CHD3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CHD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CHD3 were set to Apraxia of speech","entity_name":"CHD3","entity_type":"gene"},{"created":"2021-10-24T17:56:24.565701+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CFL2 was added\ngene: CFL2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CFL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CFL2 were set to Nemaline myopathy 7, MONDO:0012538; Nemaline myopathy 7, autosomal recessive, OMIM:610687","entity_name":"CFL2","entity_type":"gene"},{"created":"2021-10-24T17:56:23.962141+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CERS3 was added\ngene: CERS3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CERS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CERS3 were set to Ichthyosis, congenital, autosomal recessive 9, 615023","entity_name":"CERS3","entity_type":"gene"},{"created":"2021-10-24T17:56:23.572214+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CEP63 was added\ngene: CEP63 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CEP63 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CEP63 were set to ?Seckel syndrome 6, OMIM:614728; Seckel syndrome 6, MONDO:0013871","entity_name":"CEP63","entity_type":"gene"},{"created":"2021-10-24T17:56:23.252652+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CEP55 was added\ngene: CEP55 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CEP55 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP55 were set to 28295209; 28264986; 30622327\nPhenotypes for gene: CEP55 were set to Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500; lethal CEP55-related syndromes","entity_name":"CEP55","entity_type":"gene"},{"created":"2021-10-24T17:56:22.651726+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CEP135 was added\ngene: CEP135 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CEP135 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CEP135 were set to Microcephaly 8, primary, autosomal recessive, OMIM:614673; Microcephaly 8, primary, autosomal recessive, MONDO:0013849","entity_name":"CEP135","entity_type":"gene"},{"created":"2021-10-24T17:56:22.256544+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CENPF was added\ngene: CENPF was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CENPF was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CENPF were set to 25564561; PMID: 26820108\nPhenotypes for gene: CENPF were set to Stromme syndrome, 243605","entity_name":"CENPF","entity_type":"gene"},{"created":"2021-10-24T17:56:21.857937+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CELSR1 was added\ngene: CELSR1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CELSR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CELSR1 were set to Lymphatic malformation 9, OMIM:619319","entity_name":"CELSR1","entity_type":"gene"},{"created":"2021-10-24T17:56:21.262043+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CDK5RAP2 was added\ngene: CDK5RAP2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CDK5RAP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CDK5RAP2 were set to Microcephaly 3, primary, autosomal recessive, MONDO:0011488; Microcephaly 3, primary, autosomal recessive, OMIM:604804","entity_name":"CDK5RAP2","entity_type":"gene"},{"created":"2021-10-24T17:56:20.862149+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CD96 was added\ngene: CD96 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CD96 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CD96 were set to C SYNDROME","entity_name":"CD96","entity_type":"gene"},{"created":"2021-10-24T17:56:20.470297+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CD151 was added\ngene: CD151 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CD151 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CD151 were set to NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS","entity_name":"CD151","entity_type":"gene"},{"created":"2021-10-24T17:56:19.867993+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CCDC88C was added\ngene: CCDC88C was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CCDC88C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CCDC88C were set to Hydrocephalus, nonsyndromic, autosomal recessive 1, MONDO:0009360; Hydrocephalus, congenital, 1, OMIM:236600","entity_name":"CCDC88C","entity_type":"gene"},{"created":"2021-10-24T17:56:19.545228+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CCDC8 was added\ngene: CCDC8 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CCDC8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CCDC8 were set to 3M syndrome 3, MONDO:0013627; 3-M syndrome 3, OMIM:614205","entity_name":"CCDC8","entity_type":"gene"},{"created":"2021-10-24T17:56:19.151125+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CCDC78 was added\ngene: CCDC78 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CCDC78 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CCDC78 were set to CONGENITAL MYOPATHY WITH PROMINENT INTERNAL NUCLEI AND ATYPICAL CORES","entity_name":"CCDC78","entity_type":"gene"},{"created":"2021-10-24T17:56:18.556939+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CCDC22 was added\ngene: CCDC22 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CCDC22 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CCDC22 were set to SYNDROMIC X-LINKED INTELLECTUAL DISABILITY","entity_name":"CCDC22","entity_type":"gene"},{"created":"2021-10-24T17:56:18.161501+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CCDC151 was added\ngene: CCDC151 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CCDC151 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CCDC151 were set to Primary ciliary dyskinesia 30, MONDO:0014465; Ciliary dyskinesia, primary, 30, OMIM:616037","entity_name":"CCDC151","entity_type":"gene"},{"created":"2021-10-24T17:56:17.766515+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CASR was added\ngene: CASR was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: CASR were set to Hypocalciuric hypercalcemia, type I, 145980; Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198; Hypocalcemia, autosomal dominant, 601198; Hyperparathyroidism, neonatal, 239200","entity_name":"CASR","entity_type":"gene"},{"created":"2021-10-24T17:56:17.169638+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CARS2 was added\ngene: CARS2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CARS2 were set to Epileptic encephalopathy with complex movement disorder and regression","entity_name":"CARS2","entity_type":"gene"},{"created":"2021-10-24T17:56:16.849873+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CANT1 was added\ngene: CANT1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CANT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CANT1 were set to Epiphyseal dysplasia, multiple, 7, 617719; Desbuquois dysplasia 1, 251450","entity_name":"CANT1","entity_type":"gene"},{"created":"2021-10-24T17:56:16.458277+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CAMTA1 was added\ngene: CAMTA1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CAMTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CAMTA1 were set to CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION","entity_name":"CAMTA1","entity_type":"gene"},{"created":"2021-10-24T17:56:15.859875+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CAMK2B was added\ngene: CAMK2B was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CAMK2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CAMK2B were set to INTELLECTUAL DISABILITY","entity_name":"CAMK2B","entity_type":"gene"},{"created":"2021-10-24T17:56:15.471304+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CAMK2A was added\ngene: CAMK2A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CAMK2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CAMK2A were set to INTELLECTUAL DISABILITY","entity_name":"CAMK2A","entity_type":"gene"},{"created":"2021-10-24T17:56:15.061502+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CACNA1G was added\ngene: CACNA1G was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CACNA1G was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CACNA1G were set to Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087","entity_name":"CACNA1G","entity_type":"gene"},{"created":"2021-10-24T17:56:14.465526+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CACNA1D was added\ngene: CACNA1D was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CACNA1D was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: CACNA1D were set to SINOATRIAL NODE DYSFUNCTION AND DEAFNESS; PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES","entity_name":"CACNA1D","entity_type":"gene"},{"created":"2021-10-24T17:56:14.146111+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CACNA1A was added\ngene: CACNA1A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CACNA1A were set to EPILEPTIC ENCEPHALOPATHY","entity_name":"CACNA1A","entity_type":"gene"},{"created":"2021-10-24T17:56:13.757335+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CA5A was added\ngene: CA5A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CA5A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CA5A were set to HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY","entity_name":"CA5A","entity_type":"gene"},{"created":"2021-10-24T17:56:13.164036+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C2CD3 was added\ngene: C2CD3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: C2CD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C2CD3 were set to Orofaciodigital syndrome XIV, OMIM:615948; Orofaciodigital syndrome type 14, MONDO:0014413","entity_name":"C2CD3","entity_type":"gene"},{"created":"2021-10-24T17:56:12.771973+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C21orf59 was added\ngene: C21orf59 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: C21orf59 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C21orf59 were set to Primary ciliary dyskinesia 26, MONDO:0014211; Ciliary dyskinesia, primary, 26, OMIM:615500","entity_name":"C21orf59","entity_type":"gene"},{"created":"2021-10-24T17:56:12.454422+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C1QBP was added\ngene: C1QBP was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: C1QBP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C1QBP were set to Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies","entity_name":"C1QBP","entity_type":"gene"},{"created":"2021-10-24T17:56:11.856909+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C12orf57 was added\ngene: C12orf57 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: C12orf57 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C12orf57 were set to COLOBOMA, HYPOPLASTIC CORPUS CALLOSUM AND INTELLECTUAL DISABILITY; TEMTAMY SYNDROME","entity_name":"C12orf57","entity_type":"gene"},{"created":"2021-10-24T17:56:11.464615+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BPTF was added\ngene: BPTF was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: BPTF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: BPTF were set to Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features","entity_name":"BPTF","entity_type":"gene"},{"created":"2021-10-24T17:56:11.148330+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BOLA3 was added\ngene: BOLA3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: BOLA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BOLA3 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2","entity_name":"BOLA3","entity_type":"gene"},{"created":"2021-10-24T17:56:10.547659+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BNC2 was added\ngene: BNC2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: BNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: BNC2 were set to Lower urinary tract obstruction, congenital, 618612","entity_name":"BNC2","entity_type":"gene"},{"created":"2021-10-24T17:56:10.157723+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BLOC1S6 was added\ngene: BLOC1S6 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: BLOC1S6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BLOC1S6 were set to HERMANSKY-PUDLAK SYNDROME 9","entity_name":"BLOC1S6","entity_type":"gene"},{"created":"2021-10-24T17:56:09.762167+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BCL9L was added\ngene: BCL9L was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: BCL9L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BCL9L were set to 23035047\nPhenotypes for gene: BCL9L were set to Heterotaxy","entity_name":"BCL9L","entity_type":"gene"},{"created":"2021-10-24T17:56:09.171024+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BANF1 was added\ngene: BANF1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: BANF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BANF1 were set to NESTOR-GUILLERMO PROGERIA SYNDROME","entity_name":"BANF1","entity_type":"gene"},{"created":"2021-10-24T17:56:08.853669+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: B9D2 was added\ngene: B9D2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: B9D2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: B9D2 were set to 21763481; 31411728; 26092869\nPhenotypes for gene: B9D2 were set to Joubert syndrome 34, OMIM:614175; Meckel syndrome 10, OMIM:614175; Meckel syndrome, type 10, MONDO:0013609","entity_name":"B9D2","entity_type":"gene"},{"created":"2021-10-24T17:56:08.461036+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: B9D1 was added\ngene: B9D1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: B9D1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: B9D1 were set to 32622957; 24886560\nPhenotypes for gene: B9D1 were set to Meckel syndrome 9, MONDO:0013630; Joubert syndrome 27, OMIM:617120; Meckel syndrome 9, OMIM:614209; Joubert syndrome 27, MONDO:0014927","entity_name":"B9D1","entity_type":"gene"},{"created":"2021-10-24T17:56:07.862717+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: B4GAT1 was added\ngene: B4GAT1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: B4GAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: B4GAT1 were set to 23877401; 23359570\nPhenotypes for gene: B4GAT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287","entity_name":"B4GAT1","entity_type":"gene"},{"created":"2021-10-24T17:56:07.548121+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: B3GALNT2 was added\ngene: B3GALNT2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: B3GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: B3GALNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, OMIM:615181; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11, MONDO:0014071","entity_name":"B3GALNT2","entity_type":"gene"},{"created":"2021-10-24T17:56:07.158513+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATR was added\ngene: ATR was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: ATR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATR were set to Seckel syndrome 1, MONDO:0008869; Seckel syndrome 1, OMIM:210600","entity_name":"ATR","entity_type":"gene"},{"created":"2021-10-24T17:56:06.562287+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP6V1B2 was added\ngene: ATP6V1B2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: ATP6V1B2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ATP6V1B2 were set to ZIMMERMANN-LABAND SYNDROME","entity_name":"ATP6V1B2","entity_type":"gene"},{"created":"2021-10-24T17:56:06.173851+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP1A2 was added\ngene: ATP1A2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: ATP1A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP1A2 were set to 31608932; 30690204\nPhenotypes for gene: ATP1A2 were set to hydrops fetalis; arthrogryposis; microcephaly; extensive cortical malformations","entity_name":"ATP1A2","entity_type":"gene"},{"created":"2021-10-24T17:56:05.651300+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ASXL3 was added\ngene: ASXL3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: ASXL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ASXL3 were set to BAINBRIDGE-ROPERS SYNDROME","entity_name":"ASXL3","entity_type":"gene"},{"created":"2021-10-24T17:56:05.256831+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ASXL2 was added\ngene: ASXL2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: ASXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ASXL2 were set to Developmental delay, macrocephaly, and dysmorphic features","entity_name":"ASXL2","entity_type":"gene"},{"created":"2021-10-24T17:56:04.857640+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ASPH was added\ngene: ASPH was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: ASPH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ASPH were set to Traboulsi syndrome, OMIM:601552","entity_name":"ASPH","entity_type":"gene"},{"created":"2021-10-24T17:56:04.254630+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ARID2 was added\ngene: ARID2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: ARID2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ARID2 were set to ARID2-Coffin-Siris like disorder","entity_name":"ARID2","entity_type":"gene"},{"created":"2021-10-24T17:56:03.860180+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ARHGAP29 was added\ngene: ARHGAP29 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: ARHGAP29 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ARHGAP29 were set to Cleft palate; cleft lip with or without cleft palate","entity_name":"ARHGAP29","entity_type":"gene"},{"created":"2021-10-24T17:56:03.471899+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ARFGEF2 was added\ngene: ARFGEF2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: ARFGEF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARFGEF2 were set to Periventricular heterotopia with microcephaly, OMIM:608097","entity_name":"ARFGEF2","entity_type":"gene"},{"created":"2021-10-24T17:56:02.876130+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AP4S1 was added\ngene: AP4S1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: AP4S1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AP4S1 were set to CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 6","entity_name":"AP4S1","entity_type":"gene"},{"created":"2021-10-24T17:56:02.550202+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AP4M1 was added\ngene: AP4M1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AP4M1 were set to CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 3","entity_name":"AP4M1","entity_type":"gene"},{"created":"2021-10-24T17:56:02.139500+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AP4B1 was added\ngene: AP4B1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AP4B1 were set to Spastic paraplegia 47, autosomal recessive, OMIM:614066; Hereditary spastic paraplegia 47, MONDO:0013551","entity_name":"AP4B1","entity_type":"gene"},{"created":"2021-10-24T17:56:01.356095+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AP3B2 was added\ngene: AP3B2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: AP3B2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AP3B2 were set to Epileptic Encephalopathy with Optic Atrophy","entity_name":"AP3B2","entity_type":"gene"},{"created":"2021-10-24T17:56:00.955836+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ANTXR2 was added\ngene: ANTXR2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: ANTXR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ANTXR2 were set to 30176098; 20301698; 14508707\nPhenotypes for gene: ANTXR2 were set to Hyaline fibromatosis syndrome 228600","entity_name":"ANTXR2","entity_type":"gene"},{"created":"2021-10-24T17:56:00.565511+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ANKS6 was added\ngene: ANKS6 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: ANKS6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ANKS6 were set to Nephronophthisis 16, 615382","entity_name":"ANKS6","entity_type":"gene"},{"created":"2021-10-24T17:55:59.961950+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ANKRD26 was added\ngene: ANKRD26 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: ANKRD26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ANKRD26 were set to THROMBOCYTOPENIA 2","entity_name":"ANKRD26","entity_type":"gene"},{"created":"2021-10-24T17:55:59.564252+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AMMECR1 was added\ngene: AMMECR1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: AMMECR1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: AMMECR1 were set to Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990","entity_name":"AMMECR1","entity_type":"gene"},{"created":"2021-10-24T17:55:59.250021+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AMBRA1 was added\ngene: AMBRA1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: AMBRA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AMBRA1 were set to 32333458; 17589504\nPhenotypes for gene: AMBRA1 were set to Neural tube defects","entity_name":"AMBRA1","entity_type":"gene"},{"created":"2021-10-24T17:55:58.655420+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AMACR was added\ngene: AMACR was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AMACR were set to Alpha-methylacyl-CoA racemase deficiency, 614307","entity_name":"AMACR","entity_type":"gene"},{"created":"2021-10-24T17:55:58.269901+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALOXE3 was added\ngene: ALOXE3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: ALOXE3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALOXE3 were set to Ichthyosis, congenital, autosomal recessive 3, 606545","entity_name":"ALOXE3","entity_type":"gene"},{"created":"2021-10-24T17:55:57.947291+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALOX12B was added\ngene: ALOX12B was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: ALOX12B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALOX12B were set to Ichthyosis, congenital, autosomal recessive 2, 242100","entity_name":"ALOX12B","entity_type":"gene"},{"created":"2021-10-24T17:55:57.362740+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALG9 was added\ngene: ALG9 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALG9 were set to 25966638; 28932688; 26453364; 31420886\nPhenotypes for gene: ALG9 were set to Congenital disorder of glycosylation, type Il, 608776; Gillessen-Kaesbach-Nishimura syndrome, 263210; ALG9-CDG; hydops fetalis; AR lethal skeletal dysplasia; NIHF","entity_name":"ALG9","entity_type":"gene"},{"created":"2021-10-24T17:55:56.999897+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALG2 was added\ngene: ALG2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: ALG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG2 were set to ALG2-CDG","entity_name":"ALG2","entity_type":"gene"},{"created":"2021-10-24T17:55:56.571056+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALG13 was added\ngene: ALG13 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: ALG13 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: ALG13 were set to CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IS; EPILEPTIC ENCEPHALOPATHY; EPILEPTIC ENCEPHALOPATHIES.","entity_name":"ALG13","entity_type":"gene"},{"created":"2021-10-24T17:55:56.051525+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALG11 was added\ngene: ALG11 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: ALG11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG11 were set to ALG11-CDG","entity_name":"ALG11","entity_type":"gene"},{"created":"2021-10-24T17:55:55.663960+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AKT2 was added\ngene: AKT2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: AKT2 were set to 24285683; 21979934; 28502730\nPhenotypes for gene: AKT2 were set to Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416; Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900","entity_name":"AKT2","entity_type":"gene"},{"created":"2021-10-24T17:55:55.284755+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AIMP1 was added\ngene: AIMP1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: AIMP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AIMP1 were set to LEUKODYSTROPHY, HYPOMYELINATING, 3","entity_name":"AIMP1","entity_type":"gene"},{"created":"2021-10-24T17:55:54.671359+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AIFM1 was added\ngene: AIFM1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: AIFM1 were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6; COWCHOCK SYNDROME","entity_name":"AIFM1","entity_type":"gene"},{"created":"2021-10-24T17:55:54.356694+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AHCY was added\ngene: AHCY was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: AHCY was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AHCY were set to 20852937; 31957987; 30121674\nPhenotypes for gene: AHCY were set to S-adenosylhomocysteine hydrolase deficiency; Fetal hydrops; Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752","entity_name":"AHCY","entity_type":"gene"},{"created":"2021-10-24T17:55:53.966444+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AFF3 was added\ngene: AFF3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: AFF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: AFF3 were set to Skeletal dysplasia with severe neurological disease","entity_name":"AFF3","entity_type":"gene"},{"created":"2021-10-24T17:55:53.651514+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ADAMTS3 was added\ngene: ADAMTS3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: ADAMTS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAMTS3 were set to 30450763; 28985353\nPhenotypes for gene: ADAMTS3 were set to Hennekam lymphangiectasia-lymphedema syndrome 3, OMIM:618154; Hennekam lymphangiectasia-lymphedema syndrome 3, MONDO:0032564","entity_name":"ADAMTS3","entity_type":"gene"},{"created":"2021-10-24T17:55:53.057429+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACVR1 was added\ngene: ACVR1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: ACVR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ACVR1 were set to FIBRODYSPLASIA OSSIFICANS PROGRESSIVA","entity_name":"ACVR1","entity_type":"gene"},{"created":"2021-10-24T17:55:52.670733+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACSL4 was added\ngene: ACSL4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: ACSL4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ACSL4 were set to ALPORT SYNDROME WITH MENTAL RETARDATION MIDFACE HYPOPLASIA AND ELLIPTOCYTOSIS; MENTAL RETARDATION X-LINKED TYPE 63","entity_name":"ACSL4","entity_type":"gene"},{"created":"2021-10-24T17:55:52.357010+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACO2 was added\ngene: ACO2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: ACO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACO2 were set to INFANTILE CEREBELLAR-RETINAL DEGENERATION","entity_name":"ACO2","entity_type":"gene"},{"created":"2021-10-24T17:55:51.763009+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ABL1 was added\ngene: ABL1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: ABL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ABL1 were set to Congenital heart defects and skeletal malformations syndrome, MONDO:0060532; Congenital heart defects and skeletal malformations, OMIM:617602","entity_name":"ABL1","entity_type":"gene"},{"created":"2021-10-24T17:55:51.446175+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ABCD4 was added\ngene: ABCD4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABCD4 were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE","entity_name":"ABCD4","entity_type":"gene"},{"created":"2021-10-24T17:55:51.056100+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AASS was added\ngene: AASS was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: AASS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AASS were set to Hyperlysinemia (disease), MONDO:0009388; Hyperlysinemia, OMIM:238700","entity_name":"AASS","entity_type":"gene"},{"created":"2021-10-24T17:55:50.464641+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AARS was added\ngene: AARS was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: AARS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AARS were set to Developmental and epileptic encephalopathy 29, OMIM:616339; Developmental and epileptic encephalopathy, 29, MONDO:0014593","entity_name":"AARS","entity_type":"gene"},{"created":"2021-10-24T17:55:50.148652+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZMPSTE24 was added\ngene: ZMPSTE24 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ZMPSTE24 were set to MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; LETHAL RESTRICTIVE DERMOPATHY, ZMPSTE24-RELATED","entity_name":"ZMPSTE24","entity_type":"gene"},{"created":"2021-10-24T17:55:49.764922+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZIC3 was added\ngene: ZIC3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ZIC3 were set to HETEROTAXY SYNDROME; VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS","entity_name":"ZIC3","entity_type":"gene"},{"created":"2021-10-24T17:55:49.165817+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZIC2 was added\ngene: ZIC2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ZIC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ZIC2 were set to HOLOPROSENCEPHALY","entity_name":"ZIC2","entity_type":"gene"},{"created":"2021-10-24T17:55:48.849063+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZIC1 was added\ngene: ZIC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ZIC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ZIC1 were set to CRANIOSYNOSTOSIS 6","entity_name":"ZIC1","entity_type":"gene"},{"created":"2021-10-24T17:55:48.458551+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZFP57 was added\ngene: ZFP57 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ZFP57 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ZFP57 were set to DIABETES MELLITUS, 6Q24-RELATED TRANSIENT NEONATAL","entity_name":"ZFP57","entity_type":"gene"},{"created":"2021-10-24T17:55:47.868265+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZEB2 was added\ngene: ZEB2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ZEB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ZEB2 were set to MOWAT-WILSON SYNDROME","entity_name":"ZEB2","entity_type":"gene"},{"created":"2021-10-24T17:55:47.554584+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZC4H2 was added\ngene: ZC4H2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ZC4H2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: ZC4H2 were set to 30712880\nPhenotypes for gene: ZC4H2 were set to Wieacker-Wolff syndrome, OMIM:314580; Wieacker-Wolff syndrome, female-restricted, OMIM:301041","entity_name":"ZC4H2","entity_type":"gene"},{"created":"2021-10-24T17:55:47.171653+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZBTB20 was added\ngene: ZBTB20 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ZBTB20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ZBTB20 were set to PRIMROSE SYNDROME","entity_name":"ZBTB20","entity_type":"gene"},{"created":"2021-10-24T17:55:46.581244+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZBTB18 was added\ngene: ZBTB18 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ZBTB18 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ZBTB18 were set to ZBTB18 syndrome","entity_name":"ZBTB18","entity_type":"gene"},{"created":"2021-10-24T17:55:46.256971+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: YY1 was added\ngene: YY1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: YY1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: YY1 were set to INTELLECTUAL DISABILITY","entity_name":"YY1","entity_type":"gene"},{"created":"2021-10-24T17:55:45.870686+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: XYLT1 was added\ngene: XYLT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: XYLT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: XYLT1 were set to DESBUQUOIS DYSPLASIA 2","entity_name":"XYLT1","entity_type":"gene"},{"created":"2021-10-24T17:55:45.346331+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: XRCC4 was added\ngene: XRCC4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: XRCC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: XRCC4 were set to PRIMORDIAL DWARFISM","entity_name":"XRCC4","entity_type":"gene"},{"created":"2021-10-24T17:55:44.957014+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WT1 was added\ngene: WT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: WT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: WT1 were set to DENYS-DRASH SYNDROME; FRASIER SYNDROME FRASIER SYNDROME FRASIER SYNDROME","entity_name":"WT1","entity_type":"gene"}]}