{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1175","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1173","results":[{"created":"2021-10-24T17:52:55.068361+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: INPP5E was added\ngene: INPP5E was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: INPP5E were set to MENTAL RETARDATION-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS; JOUBERT SYNDROME TYPE 1","entity_name":"INPP5E","entity_type":"gene"},{"created":"2021-10-24T17:52:54.858758+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IMPAD1 was added\ngene: IMPAD1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: IMPAD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IMPAD1 were set to CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GRAPP TYPE","entity_name":"IMPAD1","entity_type":"gene"},{"created":"2021-10-24T17:52:54.655528+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IL1RAPL1 was added\ngene: IL1RAPL1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: IL1RAPL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: IL1RAPL1 were set to MENTAL RETARDATION X-LINKED TYPE 21","entity_name":"IL1RAPL1","entity_type":"gene"},{"created":"2021-10-24T17:52:54.449368+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IL11RA was added\ngene: IL11RA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: IL11RA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IL11RA were set to Crouzon-like craniosynostosis; Autosomal Recessive Craniosynostosis; Craniosynostosis and dental anomalies, 614188","entity_name":"IL11RA","entity_type":"gene"},{"created":"2021-10-24T17:52:54.179094+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IKBKG was added\ngene: IKBKG was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: IKBKG 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: IKBKG were set to ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA; SUSCEPTIBILITY TO X-LINKED FAMILIAL ATYPICAL MICOBACTERIOSIS TYPE 1; ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY X-LINKED; INCONTINENTIA PIGMENTI; IMMUNODEFICIENCY NEMO-RELATED WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA","entity_name":"IKBKG","entity_type":"gene"},{"created":"2021-10-24T17:52:53.969498+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IHH was added\ngene: IHH was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: IHH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: IHH were set to ACROCAPITOFEMORAL DYSPLASIA; BRACHYDACTYLY, TYPE A1","entity_name":"IHH","entity_type":"gene"},{"created":"2021-10-24T17:52:53.763948+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IGHMBP2 was added\ngene: IGHMBP2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IGHMBP2 were set to SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1","entity_name":"IGHMBP2","entity_type":"gene"},{"created":"2021-10-24T17:52:53.356433+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IGF2 was added\ngene: IGF2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: IGF2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)\nPhenotypes for gene: IGF2 were set to BECKWITH-WIEDEMANN SYNDROME; CHROMOSOME 11P15.5-RELATED RUSSELL-SILVER SYNDROME","entity_name":"IGF2","entity_type":"gene"},{"created":"2021-10-24T17:52:53.148481+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IGF1R was added\ngene: IGF1R was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: IGF1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: IGF1R were set to INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO","entity_name":"IGF1R","entity_type":"gene"},{"created":"2021-10-24T17:52:52.878630+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IGF1 was added\ngene: IGF1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: IGF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IGF1 were set to INSULIN-LIKE GROWTH FACTOR I DEFICIENCY","entity_name":"IGF1","entity_type":"gene"},{"created":"2021-10-24T17:52:52.664544+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IFT80 was added\ngene: IFT80 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: IFT80 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IFT80 were set to ASPHYXIATING THORACIC DYSTROPHY 2","entity_name":"IFT80","entity_type":"gene"},{"created":"2021-10-24T17:52:52.464128+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IFT43 was added\ngene: IFT43 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: IFT43 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IFT43 were set to CRANIOECTODERMAL DYSPLASIA TYPE 3","entity_name":"IFT43","entity_type":"gene"},{"created":"2021-10-24T17:52:52.256741+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IFT172 was added\ngene: IFT172 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IFT172 were set to JEUNE SYNDROME; MAINZER-SALDINO SYNDROME","entity_name":"IFT172","entity_type":"gene"},{"created":"2021-10-24T17:52:52.053653+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IFT140 was added\ngene: IFT140 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: IFT140 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IFT140 were set to MAINZER-SALDINO SYNDROME","entity_name":"IFT140","entity_type":"gene"},{"created":"2021-10-24T17:52:51.846207+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IFT122 was added\ngene: IFT122 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IFT122 were set to CRANIOECTODERMAL DYSPLASIA","entity_name":"IFT122","entity_type":"gene"},{"created":"2021-10-24T17:52:51.569232+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IFITM5 was added\ngene: IFITM5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: IFITM5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: IFITM5 were set to OSTEOGENESIS IMPERFECTA TYPE V","entity_name":"IFITM5","entity_type":"gene"},{"created":"2021-10-24T17:52:51.169149+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IFIH1 was added\ngene: IFIH1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: IFIH1 were set to 25542954\nPhenotypes for gene: IFIH1 were set to SINGLETON-MERTEN SYNDROME; Singleton-Merten syndrome 1, 182250; Aicardi-Goutieres syndrome 7, 615846; AICARDI-GOUTIERES SYNDROME 7\nMode of pathogenicity for gene: IFIH1 was set to Other","entity_name":"IFIH1","entity_type":"gene"},{"created":"2021-10-24T17:52:50.949501+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IER3IP1 was added\ngene: IER3IP1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: IER3IP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IER3IP1 were set to Microcephaly, epilepsy, and diabetes syndrome 614231","entity_name":"IER3IP1","entity_type":"gene"},{"created":"2021-10-24T17:52:50.676755+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IDUA was added\ngene: IDUA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IDUA were set to MUCOPOLYSACCHARIDOSIS TYPE 1H; MUCOPOLYSACCHARIDOSIS TYPE 1H/S; MUCOPOLYSACCHARIDOSIS TYPE 1S","entity_name":"IDUA","entity_type":"gene"},{"created":"2021-10-24T17:52:50.468163+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IDS was added\ngene: IDS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: IDS were set to MUCOPOLYSACCHARIDOSIS TYPE 2","entity_name":"IDS","entity_type":"gene"},{"created":"2021-10-24T17:52:50.267282+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IARS was added\ngene: IARS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: IARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IARS were set to 27426735\nPhenotypes for gene: IARS were set to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093","entity_name":"IARS","entity_type":"gene"},{"created":"2021-10-24T17:52:50.074599+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HYLS1 was added\ngene: HYLS1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HYLS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HYLS1 were set to HYDROLETHALUS SYNDROME TYPE 1","entity_name":"HYLS1","entity_type":"gene"},{"created":"2021-10-24T17:52:49.857593+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HUWE1 was added\ngene: HUWE1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HUWE1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: HUWE1 were set to MENTAL RETARDATION SYNDROMIC X-LINKED TURNER TYPE","entity_name":"HUWE1","entity_type":"gene"},{"created":"2021-10-24T17:52:49.655248+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HSPG2 was added\ngene: HSPG2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HSPG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HSPG2 were set to Schwartz-Jampel syndrome, MONDO:0009717; Silverman-Handmaker type dyssegmental dysplasia, MONDO:0009140; Schwartz-Jampel syndrome, type 1, OMIM:255800; Dyssegmental dysplasia, Silverman-Handmaker type, OMIM:224410","entity_name":"HSPG2","entity_type":"gene"},{"created":"2021-10-24T17:52:49.450028+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HSPD1 was added\ngene: HSPD1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HSPD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HSPD1 were set to LEUKODYSTROPHY HYPOMYELINATING TYPE 4","entity_name":"HSPD1","entity_type":"gene"},{"created":"2021-10-24T17:52:48.970332+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HSF4 was added\ngene: HSF4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HSF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: HSF4 were set to CATARACT ZONULAR HSF4-RELATED; CATARACT MARNER TYPE","entity_name":"HSF4","entity_type":"gene"},{"created":"2021-10-24T17:52:48.763217+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HSD17B4 was added\ngene: HSD17B4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HSD17B4 were set to PERRAULT SYNDROME; D-BIFUNCTIONAL PROTEIN DEFICIENCY","entity_name":"HSD17B4","entity_type":"gene"},{"created":"2021-10-24T17:52:48.573531+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HSD17B3 was added\ngene: HSD17B3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HSD17B3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HSD17B3 were set to Pseudohermaphroditism, male, with gynecomastia 264300","entity_name":"HSD17B3","entity_type":"gene"},{"created":"2021-10-24T17:52:48.358587+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HRAS was added\ngene: HRAS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: HRAS were set to 28425981\nPhenotypes for gene: HRAS were set to CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES; COSTELLO SYNDROME","entity_name":"HRAS","entity_type":"gene"},{"created":"2021-10-24T17:52:48.156393+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HR was added\ngene: HR was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HR were set to ATRICHIA WITH PAPULAR LESIONS; ALOPECIA UNIVERSALIS","entity_name":"HR","entity_type":"gene"},{"created":"2021-10-24T17:52:47.953854+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HPSE2 was added\ngene: HPSE2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HPSE2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HPSE2 were set to UROFACIAL SYNDROME","entity_name":"HPSE2","entity_type":"gene"},{"created":"2021-10-24T17:52:47.750538+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HOXD13 was added\ngene: HOXD13 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HOXD13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: HOXD13 were set to SYNDACTYLY TYPE 5; BRACHYDACTYLY-SYNDACTYLY SYNDROME; SYNPOLYDACTYLY 1; VACTERL ASSOCIATION; BRACHYDACTYLY TYPE D; BRACHYDACTYLY TYPE E","entity_name":"HOXD13","entity_type":"gene"},{"created":"2021-10-24T17:52:47.480335+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HOXA13 was added\ngene: HOXA13 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HOXA13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: HOXA13 were set to HAND-FOOT-GENITAL SYNDROME","entity_name":"HOXA13","entity_type":"gene"},{"created":"2021-10-24T17:52:47.280005+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HOXA1 was added\ngene: HOXA1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HOXA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HOXA1 were set to BOSLEY-SALIH-ALORAINY SYNDROME; ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME","entity_name":"HOXA1","entity_type":"gene"},{"created":"2021-10-24T17:52:47.085089+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HNRNPK was added\ngene: HNRNPK was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: HNRNPK were set to 30998304; 26173930; 29904177; 26954065; 28771707\nPhenotypes for gene: HNRNPK were set to Au-Kline syndrome, 616580","entity_name":"HNRNPK","entity_type":"gene"},{"created":"2021-10-24T17:52:46.661889+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HNF4A was added\ngene: HNF4A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: HNF4A were set to HNF4A-RELATED MATURITY-ONSET DIABETES OF THE YOUNG TYPE 1; ATYPICAL DOMINANT FANCONI SYNDROME WITH MODY","entity_name":"HNF4A","entity_type":"gene"},{"created":"2021-10-24T17:52:46.459737+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HNF1B was added\ngene: HNF1B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: HNF1B were set to RENAL CYSTS AND DIABETES SYNDROME","entity_name":"HNF1B","entity_type":"gene"},{"created":"2021-10-24T17:52:46.256661+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HIVEP2 was added\ngene: HIVEP2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HIVEP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: HIVEP2 were set to HIVEP2 associated syndromic developmental delay with intellectual disability","entity_name":"HIVEP2","entity_type":"gene"},{"created":"2021-10-24T17:52:46.054017+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HIBCH was added\ngene: HIBCH was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HIBCH were set to HIBCH DEFICIENCY","entity_name":"HIBCH","entity_type":"gene"},{"created":"2021-10-24T17:52:45.852101+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HES7 was added\ngene: HES7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HES7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HES7 were set to Spondylocostal dysostosis 4, autosomal recessive 613686","entity_name":"HES7","entity_type":"gene"},{"created":"2021-10-24T17:52:45.647581+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HDAC8 was added\ngene: HDAC8 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HDAC8 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: HDAC8 were set to WILSON-TURNER SYNDROME; CORNELIA DE LANGE-LIKE SYNDROME","entity_name":"HDAC8","entity_type":"gene"},{"created":"2021-10-24T17:52:45.446222+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HCFC1 was added\ngene: HCFC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HCFC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: HCFC1 were set to COBALAMIN DISORDER; MENTAL RETARDATION, X-LINKED 3","entity_name":"HCFC1","entity_type":"gene"},{"created":"2021-10-24T17:52:45.178046+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HCCS was added\ngene: HCCS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HCCS 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: HCCS were set to 30266093\nPhenotypes for gene: HCCS were set to MICROPHTHALMIA SYNDROMIC TYPE 7","entity_name":"HCCS","entity_type":"gene"},{"created":"2021-10-24T17:52:44.973465+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HBA2 was added\ngene: HBA2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HBA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HBA2 were set to Thalassemia, alpha-, 604131; Fetal hydrops","entity_name":"HBA2","entity_type":"gene"},{"created":"2021-10-24T17:52:44.563681+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HBA1 was added\ngene: HBA1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HBA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HBA1 were set to Thalassemia, alpha-, 604131; Fetal hydrops","entity_name":"HBA1","entity_type":"gene"},{"created":"2021-10-24T17:52:44.364464+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HADHA was added\ngene: HADHA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HADHA were set to LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY","entity_name":"HADHA","entity_type":"gene"},{"created":"2021-10-24T17:52:44.158935+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HAAO was added\ngene: HAAO was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HAAO was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HAAO were set to 28792876\nPhenotypes for gene: HAAO were set to Vertebral, cardiac, renal, and limb defects syndrome 1 617660","entity_name":"HAAO","entity_type":"gene"},{"created":"2021-10-24T17:52:43.956459+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GUSB was added\ngene: GUSB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GUSB were set to MUCOPOLYSACCHARIDOSIS TYPE 7","entity_name":"GUSB","entity_type":"gene"},{"created":"2021-10-24T17:52:43.756357+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GUCY2C was added\ngene: GUCY2C was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GUCY2C was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: GUCY2C were set to MECONIUM ILEUS; FAMILIAL DIARRHEA DIARRHEA 6","entity_name":"GUCY2C","entity_type":"gene"},{"created":"2021-10-24T17:52:43.557093+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GTPBP3 was added\ngene: GTPBP3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GTPBP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GTPBP3 were set to MITOCHONDRIAL TRANSLATION DEFECT ASSOCIATED WITH HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ENCEPHALOPATHY","entity_name":"GTPBP3","entity_type":"gene"},{"created":"2021-10-24T17:52:43.355319+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GTF2H5 was added\ngene: GTF2H5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GTF2H5 were set to TRICHOTHIODYSTROPHY PHOTOSENSITIVE","entity_name":"GTF2H5","entity_type":"gene"},{"created":"2021-10-24T17:52:43.154077+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GRIP1 was added\ngene: GRIP1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GRIP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GRIP1 were set to 22510445\nPhenotypes for gene: GRIP1 were set to Fraser syndrome 219000","entity_name":"GRIP1","entity_type":"gene"},{"created":"2021-10-24T17:52:42.952717+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GRIN2B was added\ngene: GRIN2B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GRIN2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GRIN2B were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 6; AUTISM; EPILEPTIC ENCEPHALOPATHY","entity_name":"GRIN2B","entity_type":"gene"},{"created":"2021-10-24T17:52:42.748201+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GRIN1 was added\ngene: GRIN1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GRIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GRIN1 were set to intellectual disability, autosomal dominant 8 MONDO:0013655; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive OMIM:617820; neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive MONDO:0060629","entity_name":"GRIN1","entity_type":"gene"},{"created":"2021-10-24T17:52:42.277508+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GRHL3 was added\ngene: GRHL3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GRHL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GRHL3 were set to VAN DER WOUDE SYNDROME","entity_name":"GRHL3","entity_type":"gene"},{"created":"2021-10-24T17:52:42.073375+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GPSM2 was added\ngene: GPSM2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GPSM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GPSM2 were set to CHUDLEY-MCCULLOUGH SYNDROME","entity_name":"GPSM2","entity_type":"gene"},{"created":"2021-10-24T17:52:41.869010+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GPI was added\ngene: GPI was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GPI was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GPI were set to Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency 613470","entity_name":"GPI","entity_type":"gene"},{"created":"2021-10-24T17:52:41.670574+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GPC3 was added\ngene: GPC3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: GPC3 were set to SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1","entity_name":"GPC3","entity_type":"gene"},{"created":"2021-10-24T17:52:41.475984+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GORAB was added\ngene: GORAB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GORAB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GORAB were set to Geroderma osteodysplasticum","entity_name":"GORAB","entity_type":"gene"},{"created":"2021-10-24T17:52:41.264179+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GNS was added\ngene: GNS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GNS were set to MUCOPOLYSACCHARIDOSIS TYPE 3D","entity_name":"GNS","entity_type":"gene"},{"created":"2021-10-24T17:52:41.075920+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GNPTG was added\ngene: GNPTG was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GNPTG were set to MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP C","entity_name":"GNPTG","entity_type":"gene"},{"created":"2021-10-24T17:52:40.857676+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GNPTAB was added\ngene: GNPTAB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GNPTAB were set to MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP A; MUCOLIPIDOSIS TYPE II","entity_name":"GNPTAB","entity_type":"gene"},{"created":"2021-10-24T17:52:40.657855+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GNPAT was added\ngene: GNPAT was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GNPAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GNPAT were set to RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2","entity_name":"GNPAT","entity_type":"gene"},{"created":"2021-10-24T17:52:40.253889+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GNB1 was added\ngene: GNB1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GNB1 were set to Mental retardation, autosomal dominant 42 OMIM:616973; intellectual disability, autosomal dominant 42 MONDO:0014855","entity_name":"GNB1","entity_type":"gene"},{"created":"2021-10-24T17:52:40.052435+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GNAS was added\ngene: GNAS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GNAS were set to ALBRIGHT HEREDITARY OSTEODYSTROPHY; GNAS HYPERFUNCTION; PSEUDOHYPOPARATHYROIDISM TYPE 1B; ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA","entity_name":"GNAS","entity_type":"gene"},{"created":"2021-10-24T17:52:39.852211+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GNAO1 was added\ngene: GNAO1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GNAO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GNAO1 were set to EPILEPTIC ENCEPHALOPATHY","entity_name":"GNAO1","entity_type":"gene"},{"created":"2021-10-24T17:52:39.649052+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GNAI3 was added\ngene: GNAI3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GNAI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GNAI3 were set to AURICULOCONDYLAR SYNDROME","entity_name":"GNAI3","entity_type":"gene"},{"created":"2021-10-24T17:52:39.448897+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GMPPB was added\ngene: GMPPB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GMPPB were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14","entity_name":"GMPPB","entity_type":"gene"},{"created":"2021-10-24T17:52:39.247121+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GLUL was added\ngene: GLUL was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GLUL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GLUL were set to CONGENITAL SYSTEMIC GLUTAMINE DEFICIENCY","entity_name":"GLUL","entity_type":"gene"},{"created":"2021-10-24T17:52:39.046243+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GLIS3 was added\ngene: GLIS3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GLIS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GLIS3 were set to DIABETES MELLITUS NEONATAL WITH CONGENITAL HYPOTHYROIDISM","entity_name":"GLIS3","entity_type":"gene"},{"created":"2021-10-24T17:52:38.846170+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GLI3 was added\ngene: GLI3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GLI3 were set to GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; PALLISTER-HALL SYNDROME; POSTAXIAL POLYDACTYLY TYPE A; PREAXIAL POLYDACTYLY TYPE IV","entity_name":"GLI3","entity_type":"gene"},{"created":"2021-10-24T17:52:38.572888+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GLI2 was added\ngene: GLI2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GLI2 were set to GLI2-RELATED HOLOPROSENCEPHALY","entity_name":"GLI2","entity_type":"gene"},{"created":"2021-10-24T17:52:38.179860+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GLE1 was added\ngene: GLE1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GLE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GLE1 were set to ARTHROGRYPOSIS, LETHAL, WITH ANTERIOR HORN CELL DISEASE","entity_name":"GLE1","entity_type":"gene"},{"created":"2021-10-24T17:52:37.978325+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GLDN was added\ngene: GLDN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GLDN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GLDN were set to Lethal arthroogryposis","entity_name":"GLDN","entity_type":"gene"},{"created":"2021-10-24T17:52:37.768655+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GLDC was added\ngene: GLDC was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GLDC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GLDC were set to GLDC-RELATED GLYCINE ENCEPHALOPATHY","entity_name":"GLDC","entity_type":"gene"},{"created":"2021-10-24T17:52:37.570863+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GLB1 was added\ngene: GLB1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GLB1 were set to GM1-GANGLIOSIDOSIS TYPE 1; GM1-GANGLIOSIDOSIS TYPE 2; GM1-GANGLIOSIDOSIS TYPE 3; MUCOPOLYSACCHARIDOSIS TYPE 4B","entity_name":"GLB1","entity_type":"gene"},{"created":"2021-10-24T17:52:37.372538+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GLA was added\ngene: GLA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GLA 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: GLA were set to Fabry disease, 301500","entity_name":"GLA","entity_type":"gene"},{"created":"2021-10-24T17:52:37.171973+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GJC2 was added\ngene: GJC2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GJC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: GJC2 were set to LYMPHEDEMA, HEREDITARY, IC; SPASTIC PARAPLEGIA, 44; LEUKODYSTROPHY, HYPOMYELINATING, 2","entity_name":"GJC2","entity_type":"gene"},{"created":"2021-10-24T17:52:36.971917+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GJA8 was added\ngene: GJA8 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GJA8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GJA8 were set to CATARACT ZONULAR PULVERULENT TYPE 1; CATARACT-MICROCORNEA SYNDROME","entity_name":"GJA8","entity_type":"gene"},{"created":"2021-10-24T17:52:36.776908+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GJA3 was added\ngene: GJA3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GJA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GJA3 were set to CATARACT ZONULAR PULVERULENT CATARACT TYPE 3","entity_name":"GJA3","entity_type":"gene"},{"created":"2021-10-24T17:52:36.571673+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GJA1 was added\ngene: GJA1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GJA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: GJA1 were set to AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA; HALLERMANN-STREIFF SYNDROME; HYPOPLASTIC LEFT HEART SYNDROME; AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA","entity_name":"GJA1","entity_type":"gene"},{"created":"2021-10-24T17:52:36.169395+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GFM1 was added\ngene: GFM1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GFM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GFM1 were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1","entity_name":"GFM1","entity_type":"gene"},{"created":"2021-10-24T17:52:35.968261+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GFAP was added\ngene: GFAP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GFAP were set to ALEXANDER DISEASE","entity_name":"GFAP","entity_type":"gene"},{"created":"2021-10-24T17:52:35.767362+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GDF6 was added\ngene: GDF6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GDF6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: GDF6 were set to 32737436\nPhenotypes for gene: GDF6 were set to KLIPPEL-FEIL SYNDROME TYPE 1; MICROPHTHALMIA ISOLATED TYPE 4; Syndromic CAKUT","entity_name":"GDF6","entity_type":"gene"},{"created":"2021-10-24T17:52:35.571864+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GDF5 was added\ngene: GDF5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GDF5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: GDF5 were set to MULTIPLE SYNOSTOSES SYNDROME TYPE 2; ACROMESOMELIC CHONDRODYSPLASIA GREBE TYPE; BRACHYDACTYLY TYPE A1; SYMPHALANGISM PROXIMAL SYNDROME; DU PAN SYNDROME; BRACHYDACTYLY TYPE C; ACROMESOMELIC CHONDRODYSPLASIA HUNTER-THOMPSON TYPE; BRACHYDACTYLY TYPE A2","entity_name":"GDF5","entity_type":"gene"},{"created":"2021-10-24T17:52:35.368888+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GDF1 was added\ngene: GDF1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GDF1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: GDF1 were set to 17924340; PMID: 20413652; 28991257\nPhenotypes for gene: GDF1 were set to Right atrial isomerism (Ivemark); Congenital heart defects, multiple types","entity_name":"GDF1","entity_type":"gene"},{"created":"2021-10-24T17:52:35.171392+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GCDH was added\ngene: GCDH was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GCDH were set to GLUTARICACIDEMIA TYPE 1","entity_name":"GCDH","entity_type":"gene"},{"created":"2021-10-24T17:52:34.976128+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GBE1 was added\ngene: GBE1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GBE1 were set to 21620786\nPhenotypes for gene: GBE1 were set to Fetal akinesia deformation sequence; Glycogen storage disease IV, OMIM:232500","entity_name":"GBE1","entity_type":"gene"},{"created":"2021-10-24T17:52:34.778312+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GBA2 was added\ngene: GBA2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GBA2 were set to AUTOSOMAL-RECESSIVE CEREBELLAR ATAXIA WITH SPASTICITY.","entity_name":"GBA2","entity_type":"gene"},{"created":"2021-10-24T17:52:34.647042+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GBA was added\ngene: GBA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GBA were set to 30712880\nPhenotypes for gene: GBA were set to GAUCHER DISEASE TYPE 1; GAUCHER DISEASE TYPE 3C; GAUCHER DISEASE PERINATAL LETHAL; GAUCHER DISEASE TYPE 3; GAUCHER DISEASE TYPE 2; GAUCHER DISEASE","entity_name":"GBA","entity_type":"gene"},{"created":"2021-10-24T17:52:34.449777+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GATA6 was added\ngene: GATA6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GATA6 were set to ATRIOVENTRICULAR SEPTAL DEFECT 5; PANCREATIC AGENESIS, DIAPHRAGMATIC HERNIA AND CONGENITAL HEART DEFECTS; ATRIAL SEPTAL DEFECT 9","entity_name":"GATA6","entity_type":"gene"},{"created":"2021-10-24T17:52:34.251782+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GATA4 was added\ngene: GATA4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GATA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GATA4 were set to ATRIAL SEPTAL DEFECT TYPE 2","entity_name":"GATA4","entity_type":"gene"},{"created":"2021-10-24T17:52:33.846273+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GATA2 was added\ngene: GATA2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GATA2 were set to EMBERGER SYNDROME","entity_name":"GATA2","entity_type":"gene"},{"created":"2021-10-24T17:52:33.653211+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GALNS was added\ngene: GALNS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GALNS were set to MUCOPOLYSACCHARIDOSIS TYPE 4A","entity_name":"GALNS","entity_type":"gene"},{"created":"2021-10-24T17:52:33.451769+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GALK1 was added\ngene: GALK1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GALK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GALK1 were set to GALACTOSEMIA II","entity_name":"GALK1","entity_type":"gene"},{"created":"2021-10-24T17:52:33.256051+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GALE was added\ngene: GALE was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GALE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GALE were set to EPIMERASE-DEFICIENCY GALACTOSEMIA","entity_name":"GALE","entity_type":"gene"},{"created":"2021-10-24T17:52:33.057397+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GALC was added\ngene: GALC was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GALC were set to Krabbe disease, OMIM:245200","entity_name":"GALC","entity_type":"gene"},{"created":"2021-10-24T17:52:32.858013+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GAA was added\ngene: GAA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GAA were set to GLYCOGEN STORAGE DISEASE TYPE II","entity_name":"GAA","entity_type":"gene"},{"created":"2021-10-24T17:52:32.662987+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: G6PC3 was added\ngene: G6PC3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: G6PC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: G6PC3 were set to Dursun syndrome; Neutropenia, severe congenital 4, autosomal recessive","entity_name":"G6PC3","entity_type":"gene"},{"created":"2021-10-24T17:52:32.467434+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FYCO1 was added\ngene: FYCO1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: FYCO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FYCO1 were set to CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2","entity_name":"FYCO1","entity_type":"gene"}]}