{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1161","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1159","results":[{"created":"2021-10-24T18:04:39.156251+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TNFRSF11B was added\ngene: TNFRSF11B was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TNFRSF11B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TNFRSF11B were set to Paget disease 239000","entity_name":"TNFRSF11B","entity_type":"gene"},{"created":"2021-10-24T18:04:38.550016+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TMPRSS6 was added\ngene: TMPRSS6 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TMPRSS6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMPRSS6 were set to IRON-REFRACTORY IRON DEFICIENCY ANEMIA","entity_name":"TMPRSS6","entity_type":"gene"},{"created":"2021-10-24T18:04:37.665329+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TMEM70 was added\ngene: TMEM70 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM70 were set to MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2","entity_name":"TMEM70","entity_type":"gene"},{"created":"2021-10-24T18:04:37.072954+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TMEM126B was added\ngene: TMEM126B was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TMEM126B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM126B were set to Muscle Weakness and Isolated Complex I Deficiency","entity_name":"TMEM126B","entity_type":"gene"},{"created":"2021-10-24T18:04:36.247444+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TK2 was added\ngene: TK2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TK2 were set to MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM","entity_name":"TK2","entity_type":"gene"},{"created":"2021-10-24T18:04:35.358599+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TIMM8A was added\ngene: TIMM8A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TIMM8A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: TIMM8A were set to JENSEN SYNDROME; MOHR-TRANEBJAERG SYNDROME","entity_name":"TIMM8A","entity_type":"gene"},{"created":"2021-10-24T18:04:34.758746+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: THAP1 was added\ngene: THAP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: THAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: THAP1 were set to DYSTONIA 6, TORSION","entity_name":"THAP1","entity_type":"gene"},{"created":"2021-10-24T18:04:33.951256+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TH was added\ngene: TH was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TH were set to DOPA-RESPONSIVE DYSTONIA","entity_name":"TH","entity_type":"gene"},{"created":"2021-10-24T18:04:33.068087+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TGFB1 was added\ngene: TGFB1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TGFB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: TGFB1 were set to CAMURATI-ENGELMANN DISEASE","entity_name":"TGFB1","entity_type":"gene"},{"created":"2021-10-24T18:04:32.451796+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TERT was added\ngene: TERT was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TERT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TERT were set to Dyskeratosis congenita, autosomal recessive 4","entity_name":"TERT","entity_type":"gene"},{"created":"2021-10-24T18:04:31.580997+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TEK was added\ngene: TEK was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TEK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: TEK were set to VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL","entity_name":"TEK","entity_type":"gene"},{"created":"2021-10-24T18:04:30.759011+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TCN2 was added\ngene: TCN2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TCN2 were set to Transcobalamin II deficiency","entity_name":"TCN2","entity_type":"gene"},{"created":"2021-10-24T18:04:30.155671+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TBXAS1 was added\ngene: TBXAS1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TBXAS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TBXAS1 were set to GHOSAL HEMATODIAPHYSEAL SYNDROME","entity_name":"TBXAS1","entity_type":"gene"},{"created":"2021-10-24T18:04:29.269040+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TAT was added\ngene: TAT was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TAT were set to TYROSINEMIA TYPE 2","entity_name":"TAT","entity_type":"gene"},{"created":"2021-10-24T18:04:28.663827+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TANGO2 was added\ngene: TANGO2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TANGO2 were set to Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy","entity_name":"TANGO2","entity_type":"gene"},{"created":"2021-10-24T18:04:27.856590+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SYP was added\ngene: SYP was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SYP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: SYP were set to MENTAL RETARDATION X-LINKED SYP-RELATED","entity_name":"SYP","entity_type":"gene"},{"created":"2021-10-24T18:04:27.051998+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SYNGAP1 was added\ngene: SYNGAP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SYNGAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SYNGAP1 were set to MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 5; EPILEPTIC ENCEPHALOPATHY","entity_name":"SYNGAP1","entity_type":"gene"},{"created":"2021-10-24T18:04:26.449841+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SURF1 was added\ngene: SURF1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SURF1 were set to LEIGH SYNDROME; COMPLEX IV DEFICIENCY","entity_name":"SURF1","entity_type":"gene"},{"created":"2021-10-24T18:04:25.572100+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: STXBP1 was added\ngene: STXBP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: STXBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: STXBP1 were set to ANGELMAN/PITT HOPKINS SYNDROME-LIKE DISORDER; EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 4","entity_name":"STXBP1","entity_type":"gene"},{"created":"2021-10-24T18:04:24.764945+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: STS was added\ngene: STS was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: STS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: STS were set to ICHTHYOSIS, X-LINKED","entity_name":"STS","entity_type":"gene"},{"created":"2021-10-24T18:04:24.168726+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: STAT1 was added\ngene: STAT1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: STAT1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: STAT1 were set to STAT1 DEFICIENCY COMPLETE; FAMILIAL CANDIDIASIS TYPE 7; MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE","entity_name":"STAT1","entity_type":"gene"},{"created":"2021-10-24T18:04:23.365065+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: STAG1 was added\ngene: STAG1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: STAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: STAG1 were set to STAG1 syndromic intellectual disability","entity_name":"STAG1","entity_type":"gene"},{"created":"2021-10-24T18:04:22.762405+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SPTLC2 was added\ngene: SPTLC2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SPTLC2 were set to NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC","entity_name":"SPTLC2","entity_type":"gene"},{"created":"2021-10-24T18:04:21.957000+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SPTBN5 was added\ngene: SPTBN5 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SPTBN5 was set to Unknown\nPublications for gene: SPTBN5 were set to 28007035; 32732226\nPhenotypes for gene: SPTBN5 were set to Sacral agenesis; Multicystic kidney; Oligohydramnios","entity_name":"SPTBN5","entity_type":"gene"},{"created":"2021-10-24T18:04:21.150619+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SPTBN2 was added\ngene: SPTBN2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SPTBN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPTBN2 were set to 28636205; 29196973\nPhenotypes for gene: SPTBN2 were set to Infantile ataxia with oculomotor and pyramidal signs; SCA14; Spinocerebellar ataxia, autosomal recessive 14,  615386","entity_name":"SPTBN2","entity_type":"gene"},{"created":"2021-10-24T18:04:20.548380+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SPRY4 was added\ngene: SPRY4 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SPRY4 was set to Unknown\nPhenotypes for gene: SPRY4 were set to Hypogonadotropic hypogonadism 17 with or without anosmia 615266","entity_name":"SPRY4","entity_type":"gene"},{"created":"2021-10-24T18:04:19.670590+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SPR was added\ngene: SPR was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SPR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SPR were set to DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY","entity_name":"SPR","entity_type":"gene"},{"created":"2021-10-24T18:04:18.864245+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SP110 was added\ngene: SP110 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SP110 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SP110 were set to Hepatic venoocclusive disease with immunodeficiency 235550","entity_name":"SP110","entity_type":"gene"},{"created":"2021-10-24T18:04:18.266494+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMARCAL1 was added\ngene: SMARCAL1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SMARCAL1 were set to SCHIMKE IMMUNOOSSEOUS DYSPLASIA","entity_name":"SMARCAL1","entity_type":"gene"},{"created":"2021-10-24T18:04:17.465806+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC9A6 was added\ngene: SLC9A6 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SLC9A6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: SLC9A6 were set to MENTAL RETARDATION SYNDROMIC X-LINKED CHRISTIANSON TYPE","entity_name":"SLC9A6","entity_type":"gene"},{"created":"2021-10-24T18:04:16.857269+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC6A8 was added\ngene: SLC6A8 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: SLC6A8 were set to X-LINKED CREATINE DEFICIENCY SYNDROME","entity_name":"SLC6A8","entity_type":"gene"},{"created":"2021-10-24T18:04:16.052779+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC6A5 was added\ngene: SLC6A5 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SLC6A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC6A5 were set to Hyperekplexia 3, 614618","entity_name":"SLC6A5","entity_type":"gene"},{"created":"2021-10-24T18:04:15.171193+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC6A3 was added\ngene: SLC6A3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SLC6A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC6A3 were set to PARKINSONISM-DYSTONIA, INFANTILE","entity_name":"SLC6A3","entity_type":"gene"},{"created":"2021-10-24T18:04:14.569679+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC6A1 was added\ngene: SLC6A1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SLC6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SLC6A1 were set to EPILEPSY WITH MYOCLONIC-ATONIC SEIZURES","entity_name":"SLC6A1","entity_type":"gene"},{"created":"2021-10-24T18:04:13.768740+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC5A5 was added\ngene: SLC5A5 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SLC5A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC5A5 were set to THYROID HORMONOGENESIS DEFECT I","entity_name":"SLC5A5","entity_type":"gene"},{"created":"2021-10-24T18:04:12.966520+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC52A3 was added\ngene: SLC52A3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC52A3 were set to BROWN-VIALETTO-VAN LAERE SYNDROME","entity_name":"SLC52A3","entity_type":"gene"},{"created":"2021-10-24T18:04:12.359425+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC52A2 was added\ngene: SLC52A2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC52A2 were set to 22740598; 24253200\nPhenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2","entity_name":"SLC52A2","entity_type":"gene"},{"created":"2021-10-24T18:04:11.551299+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC4A4 was added\ngene: SLC4A4 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC4A4 were set to 16636648; 10545938; 11131345\nPhenotypes for gene: SLC4A4 were set to PROXIMAL RENAL TUBULAR ACIDOSIS WITH OCULAR ABNORMALITIES","entity_name":"SLC4A4","entity_type":"gene"},{"created":"2021-10-24T18:04:10.951836+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC4A11 was added\ngene: SLC4A11 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SLC4A11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC4A11 were set to CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4","entity_name":"SLC4A11","entity_type":"gene"},{"created":"2021-10-24T18:04:10.147423+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC4A1 was added\ngene: SLC4A1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SLC4A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: SLC4A1 were set to RENAL TUBULAR ACIDOSIS, DISTAL, AD; RENAL TUBULAR ACIDOSIS, DISTAL, AR","entity_name":"SLC4A1","entity_type":"gene"},{"created":"2021-10-24T18:04:09.270127+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC46A1 was added\ngene: SLC46A1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC46A1 were set to HEREDITARY FOLATE MALABSORPTION","entity_name":"SLC46A1","entity_type":"gene"},{"created":"2021-10-24T18:04:08.746125+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC39A13 was added\ngene: SLC39A13 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SLC39A13 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC39A13 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION; EHLERS-DANLOS SYNDROME-LIKE SPONDYLOCHEIRODYSPLASIA","entity_name":"SLC39A13","entity_type":"gene"},{"created":"2021-10-24T18:04:07.870640+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC37A4 was added\ngene: SLC37A4 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SLC37A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC37A4 were set to Glycogen storage disease Ib 232220","entity_name":"SLC37A4","entity_type":"gene"},{"created":"2021-10-24T18:04:07.347331+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC2A2 was added\ngene: SLC2A2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC2A2 were set to FANCONI-BICKEL SYNDROME","entity_name":"SLC2A2","entity_type":"gene"},{"created":"2021-10-24T18:04:06.513608+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC2A1 was added\ngene: SLC2A1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SLC2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SLC2A1 were set to GLUT1 DEFICIENCY SYNDROME TYPE 2; GLUT1 DEFICIENCY SYNDROME TYPE 1","entity_name":"SLC2A1","entity_type":"gene"},{"created":"2021-10-24T18:04:05.659097+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC25A26 was added\ngene: SLC25A26 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SLC25A26 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A26 were set to INTRA-MITOCHONDRIAL METHYLATION DEFICIENCY","entity_name":"SLC25A26","entity_type":"gene"},{"created":"2021-10-24T18:04:05.060627+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC25A15 was added\ngene: SLC25A15 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A15 were set to HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME","entity_name":"SLC25A15","entity_type":"gene"},{"created":"2021-10-24T18:04:04.255334+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC22A5 was added\ngene: SLC22A5 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC22A5 were set to SYSTEMIC PRIMARY CARNITINE DEFICIENCY","entity_name":"SLC22A5","entity_type":"gene"},{"created":"2021-10-24T18:04:03.456826+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC19A3 was added\ngene: SLC19A3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC19A3 were set to THIAMINE METABOLISM DYSFUNCTION SYNDROME 2","entity_name":"SLC19A3","entity_type":"gene"},{"created":"2021-10-24T18:04:02.852554+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SKIV2L was added\ngene: SKIV2L was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SKIV2L was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SKIV2L were set to TRICHOHEPATOENTERIC SYNDROME 2","entity_name":"SKIV2L","entity_type":"gene"},{"created":"2021-10-24T18:04:01.951460+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SIX1 was added\ngene: SIX1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SIX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SIX1 were set to BRANCHIOOTIC SYNDROME TYPE 3; DEAFNESS AUTOSOMAL DOMINANT TYPE 23","entity_name":"SIX1","entity_type":"gene"},{"created":"2021-10-24T18:04:01.284368+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SIM1 was added\ngene: SIM1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SIM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SIM1 were set to 23778136; 23778139; 28472148\nPhenotypes for gene: SIM1 were set to Severe obesity with neurobehavioral features","entity_name":"SIM1","entity_type":"gene"},{"created":"2021-10-24T18:04:00.460056+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SIK1 was added\ngene: SIK1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SIK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SIK1 were set to NEONATAL EPILEPSY SPECTRUM","entity_name":"SIK1","entity_type":"gene"},{"created":"2021-10-24T18:03:59.571177+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SHROOM4 was added\ngene: SHROOM4 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SHROOM4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: SHROOM4 were set to 32565546\nPhenotypes for gene: SHROOM4 were set to Stocco dos Santos X-linked mental retardation syndrome, 300434","entity_name":"SHROOM4","entity_type":"gene"},{"created":"2021-10-24T18:03:58.973124+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SGCA was added\ngene: SGCA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SGCA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SGCA were set to Muscular dystrophy, limb-girdle, type 2D 608099","entity_name":"SGCA","entity_type":"gene"},{"created":"2021-10-24T18:03:58.170140+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SELENON was added\ngene: SELENON was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SELENON was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SELENON were set to Myopathy, congenital, with fiber-type disproportion  255310; Muscular dystrophy, rigid spine  602771","entity_name":"SELENON","entity_type":"gene"},{"created":"2021-10-24T18:03:57.571188+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SDHAF1 was added\ngene: SDHAF1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SDHAF1 were set to MITOCHONDRIAL COMPLEX II DEFICIENCY","entity_name":"SDHAF1","entity_type":"gene"},{"created":"2021-10-24T18:03:56.766984+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SDHA was added\ngene: SDHA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SDHA were set to LEIGH SYNDROME","entity_name":"SDHA","entity_type":"gene"},{"created":"2021-10-24T18:03:55.959981+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SCO1 was added\ngene: SCO1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SCO1 were set to Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048","entity_name":"SCO1","entity_type":"gene"},{"created":"2021-10-24T18:03:55.360459+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SCN8A was added\ngene: SCN8A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SCN8A were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13; COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA","entity_name":"SCN8A","entity_type":"gene"},{"created":"2021-10-24T18:03:54.557030+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SCN7A was added\ngene: SCN7A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SCN7A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCN7A were set to 32732226\nPhenotypes for gene: SCN7A were set to Holoprosencephaly","entity_name":"SCN7A","entity_type":"gene"},{"created":"2021-10-24T18:03:53.756436+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SCN1B was added\ngene: SCN1B was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SCN1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SCN1B were set to EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 1; BRUGADA SYNDROME 5","entity_name":"SCN1B","entity_type":"gene"},{"created":"2021-10-24T18:03:53.157003+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SCN1A was added\ngene: SCN1A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SCN1A were set to 29543227; 32928894\nPhenotypes for gene: SCN1A were set to Dravet syndrome, OMIM:607208; Arthrogryposis multiplex congenita","entity_name":"SCN1A","entity_type":"gene"},{"created":"2021-10-24T18:03:52.346182+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SCN11A was added\ngene: SCN11A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SCN11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SCN11A were set to CONGENITAL INABILITY TO EXPERIENCE PAIN","entity_name":"SCN11A","entity_type":"gene"},{"created":"2021-10-24T18:03:51.751728+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RTN4IP1 was added\ngene: RTN4IP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: RTN4IP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RTN4IP1 were set to EARLY-ONSET RECESSIVE OPTIC NEUROPATHY","entity_name":"RTN4IP1","entity_type":"gene"},{"created":"2021-10-24T18:03:50.947532+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RSPO4 was added\ngene: RSPO4 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: RSPO4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RSPO4 were set to ANONYCHIA CONGENITA","entity_name":"RSPO4","entity_type":"gene"},{"created":"2021-10-24T18:03:50.150075+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RSPH3 was added\ngene: RSPH3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: RSPH3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RSPH3 were set to 30166424\nPhenotypes for gene: RSPH3 were set to PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX DEFECTS","entity_name":"RSPH3","entity_type":"gene"},{"created":"2021-10-24T18:03:49.555404+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RSPH1 was added\ngene: RSPH1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: RSPH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RSPH1 were set to 30166424\nPhenotypes for gene: RSPH1 were set to PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX AND RADIAL-SPOKE DEFECTS","entity_name":"RSPH1","entity_type":"gene"},{"created":"2021-10-24T18:03:48.747641+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPGRIP1 was added\ngene: RPGRIP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: RPGRIP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RPGRIP1 were set to CONE-ROD DYSTROPHY 13; LEBER CONGENITAL AMAUROSIS 6","entity_name":"RPGRIP1","entity_type":"gene"},{"created":"2021-10-24T18:03:48.154644+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPE65 was added\ngene: RPE65 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: RPE65 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RPE65 were set to LEBER CONGENITAL AMAUROSIS","entity_name":"RPE65","entity_type":"gene"},{"created":"2021-10-24T18:03:47.357515+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RFWD3 was added\ngene: RFWD3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: RFWD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RFWD3 were set to 28691929\nPhenotypes for gene: RFWD3 were set to ?Fanconi anemia, complementation group W, OMIM:617784","entity_name":"RFWD3","entity_type":"gene"},{"created":"2021-10-24T18:03:46.551742+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RETREG1 was added\ngene: RETREG1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RETREG1 were set to NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB","entity_name":"RETREG1","entity_type":"gene"},{"created":"2021-10-24T18:03:45.953736+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RAB39B was added\ngene: RAB39B was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: RAB39B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: RAB39B were set to 29152164; 20159109\nPhenotypes for gene: RAB39B were set to MENTAL RETARDATION X-LINKED TYPE 72 (MRX72) +/- PARKINSONS","entity_name":"RAB39B","entity_type":"gene"},{"created":"2021-10-24T18:03:45.157030+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: QDPR was added\ngene: QDPR was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: QDPR were set to BH4-DEFICIENT HYPERPHENYLALANINEMIA C","entity_name":"QDPR","entity_type":"gene"},{"created":"2021-10-24T18:03:44.556851+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PYGL was added\ngene: PYGL was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PYGL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PYGL were set to GLYCOGEN STORAGE DISEASE TYPE VI","entity_name":"PYGL","entity_type":"gene"},{"created":"2021-10-24T18:03:43.757873+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PURA was added\ngene: PURA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PURA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PURA were set to INTELLECTUAL DISABILITY","entity_name":"PURA","entity_type":"gene"},{"created":"2021-10-24T18:03:42.956896+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PTEN was added\ngene: PTEN was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PTEN were set to LHERMITTE-DUCLOS DISEASE; PROTEUS SYNDROME; COWDEN DISEASE; BANNAYAN-ZONANA SYNDROME; VACTERL ASSOCIATION WITH HYDROCEPHALUS; MACROCEPHALY/AUTISM SYNDROME","entity_name":"PTEN","entity_type":"gene"},{"created":"2021-10-24T18:03:42.353888+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PTCHD1 was added\ngene: PTCHD1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PTCHD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PTCHD1 were set to AUTISM/ID","entity_name":"PTCHD1","entity_type":"gene"},{"created":"2021-10-24T18:03:41.553961+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PSMB8 was added\ngene: PSMB8 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PSMB8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PSMB8 were set to NAKAJO SYNDROME","entity_name":"PSMB8","entity_type":"gene"},{"created":"2021-10-24T18:03:40.957239+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PRX was added\ngene: PRX was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PRX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: PRX were set to Charcot-Marie-Tooth disease, type 4F 614895; Dejerine-Sottas disease  145900","entity_name":"PRX","entity_type":"gene"},{"created":"2021-10-24T18:03:40.154161+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PRSS12 was added\ngene: PRSS12 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PRSS12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PRSS12 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 1","entity_name":"PRSS12","entity_type":"gene"},{"created":"2021-10-24T18:03:39.349907+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PRRT2 was added\ngene: PRRT2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PRRT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: PRRT2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION; BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME","entity_name":"PRRT2","entity_type":"gene"},{"created":"2021-10-24T18:03:38.754979+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PRPS1 was added\ngene: PRPS1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PRPS1 were set to DEAFNESS X-LINKED TYPE 1; PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY; CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5; ARTS SYNDROME","entity_name":"PRPS1","entity_type":"gene"},{"created":"2021-10-24T18:03:37.956904+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PROP1 was added\ngene: PROP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PROP1 were set to PROP1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY","entity_name":"PROP1","entity_type":"gene"},{"created":"2021-10-24T18:03:37.157644+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PROKR2 was added\ngene: PROKR2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PROKR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PROKR2 were set to 17054399\nPhenotypes for gene: PROKR2 were set to Hypogonadotropic hypogonadism 3 with or without anosmia 244200","entity_name":"PROKR2","entity_type":"gene"},{"created":"2021-10-24T18:03:36.553715+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PROK2 was added\ngene: PROK2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PROK2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: PROK2 were set to 17054399; 30712880\nPhenotypes for gene: PROK2 were set to Hypogonadotropic hypogonadism 4 with or without anosmia, 610628","entity_name":"PROK2","entity_type":"gene"},{"created":"2021-10-24T18:03:35.749079+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PRDM12 was added\ngene: PRDM12 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PRDM12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PRDM12 were set to HEREDITARY SENSORY & AUTONOMIC NEUROPATHY TYPE VIII","entity_name":"PRDM12","entity_type":"gene"},{"created":"2021-10-24T18:03:35.154346+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PPT1 was added\ngene: PPT1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PPT1 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 1","entity_name":"PPT1","entity_type":"gene"},{"created":"2021-10-24T18:03:34.349059+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PPM1D was added\ngene: PPM1D was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PPM1D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PPM1D were set to PPM1D syndrome","entity_name":"PPM1D","entity_type":"gene"},{"created":"2021-10-24T18:03:33.550415+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PPA2 was added\ngene: PPA2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PPA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PPA2 were set to Sudden arrhythmic cardiac death after infectious or alcohol trigger","entity_name":"PPA2","entity_type":"gene"},{"created":"2021-10-24T18:03:32.955613+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POLG was added\ngene: POLG was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POLG were set to MITOCHONDRIAL DNA DEPLETION SYNDROME 4A","entity_name":"POLG","entity_type":"gene"},{"created":"2021-10-24T18:03:32.149872+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POLD1 was added\ngene: POLD1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: POLD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: POLD1 were set to SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM","entity_name":"POLD1","entity_type":"gene"},{"created":"2021-10-24T18:03:31.548593+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POC1B was added\ngene: POC1B was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: POC1B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POC1B were set to AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY","entity_name":"POC1B","entity_type":"gene"},{"created":"2021-10-24T18:03:30.745242+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PNPT1 was added\ngene: PNPT1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PNPT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PNPT1 were set to RESPIRATORY CHAIN DISORDER; HEARING LOSS","entity_name":"PNPT1","entity_type":"gene"},{"created":"2021-10-24T18:03:29.870655+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PMS2 was added\ngene: PMS2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PMS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PMS2 were set to MISMATCH REPAIR CANCER SYNDROME","entity_name":"PMS2","entity_type":"gene"},{"created":"2021-10-24T18:03:29.352916+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PMP22 was added\ngene: PMP22 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PMP22 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: PMP22 were set to Neuropathy, recurrent, with pressure palsies 162500; Roussy-Levy syndrome 180800; Charcot-Marie-Tooth disease, type 1A 118220; Dejerine-Sottas disease  145900; Charcot-Marie-Tooth disease, type 1E  118300; Neuropathy, inflammatory demyelinating 139393","entity_name":"PMP22","entity_type":"gene"},{"created":"2021-10-24T18:03:28.545510+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PLP1 was added\ngene: PLP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PLP1 were set to LEUKODYSTROPHY HYPOMYELINATING TYPE 1; SPASTIC PARAPLEGIA X-LINKED TYPE 2","entity_name":"PLP1","entity_type":"gene"},{"created":"2021-10-24T18:03:27.953498+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PLCE1 was added\ngene: PLCE1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PLCE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLCE1 were set to NEPHROTIC SYNDROME, TYPE 3","entity_name":"PLCE1","entity_type":"gene"},{"created":"2021-10-24T18:03:27.154331+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PLA2G6 was added\ngene: PLA2G6 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLA2G6 were set to NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B; INFANTILE NEUROAXONAL DYSTROPHY 1","entity_name":"PLA2G6","entity_type":"gene"},{"created":"2021-10-24T18:03:26.352503+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PGK1 was added\ngene: PGK1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PGK1 were set to PHOSPHOGLYCERATE KINASE 1 DEFICIENCY","entity_name":"PGK1","entity_type":"gene"}]}