{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1171","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1169","results":[{"created":"2021-10-24T17:55:03.261583+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TAPT1 was added\ngene: TAPT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: TAPT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TAPT1 were set to COMPLEX LETHAL OSTEOCHONDRODYSPLASIA","entity_name":"TAPT1","entity_type":"gene"},{"created":"2021-10-24T17:55:02.949739+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TALDO1 was added\ngene: TALDO1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: TALDO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TALDO1 were set to Transaldolase deficiency, 606003; Fetal hydrops","entity_name":"TALDO1","entity_type":"gene"},{"created":"2021-10-24T17:55:02.564486+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TAF1 was added\ngene: TAF1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: TAF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: TAF1 were set to Dysmorphic Features, Intellectual Disability, and Neurological Manifestations","entity_name":"TAF1","entity_type":"gene"},{"created":"2021-10-24T17:55:01.984052+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TAB2 was added\ngene: TAB2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: TAB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: TAB2 were set to CONGENITAL HEART DISEASE, NONSYNDROMIC, 2","entity_name":"TAB2","entity_type":"gene"},{"created":"2021-10-24T17:55:01.562924+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SUZ12 was added\ngene: SUZ12 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SUZ12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SUZ12 were set to 30019515; 28229514\nPhenotypes for gene: SUZ12 were set to Weaver-like overgrowth syndrome; Imagawa-Matsumoto syndrome #618786","entity_name":"SUZ12","entity_type":"gene"},{"created":"2021-10-24T17:55:01.232276+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SUMF1 was added\ngene: SUMF1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SUMF1 were set to SULFATIDOSIS, JUVENILE, AUSTIN TYPE","entity_name":"SUMF1","entity_type":"gene"},{"created":"2021-10-24T17:55:00.851904+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SUCLG1 was added\ngene: SUCLG1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SUCLG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SUCLG1 were set to 21093335\nPhenotypes for gene: SUCLG1 were set to FATAL INFANTILE LACTIC ACIDOSIS","entity_name":"SUCLG1","entity_type":"gene"},{"created":"2021-10-24T17:55:00.281826+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: STRA6 was added\ngene: STRA6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: STRA6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STRA6 were set to MICROPHTHALMIA SYNDROMIC TYPE 9","entity_name":"STRA6","entity_type":"gene"},{"created":"2021-10-24T17:54:59.768965+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: STAR was added\ngene: STAR was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: STAR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STAR were set to CHOLESTEROL DESMOLASE-DEFICIENT CONGENITAL ADRENAL HYPERPLASIA","entity_name":"STAR","entity_type":"gene"},{"created":"2021-10-24T17:54:59.461820+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: STAMBP was added\ngene: STAMBP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: STAMBP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STAMBP were set to MICROCEPHALY CAPILLARY MALFORMATION (MIC-CAP) SYNDROME","entity_name":"STAMBP","entity_type":"gene"},{"created":"2021-10-24T17:54:58.948145+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: STAG2 was added\ngene: STAG2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: STAG2 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: STAG2 were set to 29263825; 28296084; 30158690\nPhenotypes for gene: STAG2 were set to STAG2-related developmental delay with microcephaly and congenital anomalies","entity_name":"STAG2","entity_type":"gene"},{"created":"2021-10-24T17:54:58.575733+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SRY was added\ngene: SRY was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SRY was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: SRY were set to 46XY SEX REVERSAL 1","entity_name":"SRY","entity_type":"gene"},{"created":"2021-10-24T17:54:58.268581+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SRD5A3 was added\ngene: SRD5A3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SRD5A3 were set to CONGENITAL DISORDERS OF GLYCOSYLATION","entity_name":"SRD5A3","entity_type":"gene"},{"created":"2021-10-24T17:54:57.962777+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SRD5A2 was added\ngene: SRD5A2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SRD5A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SRD5A2 were set to Pseudovaginal perineoscrotal hypospadias 264600","entity_name":"SRD5A2","entity_type":"gene"},{"created":"2021-10-24T17:54:57.455654+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SRCAP was added\ngene: SRCAP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SRCAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SRCAP were set to FLOATING-HARBOR SYNDROME","entity_name":"SRCAP","entity_type":"gene"},{"created":"2021-10-24T17:54:57.080631+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SPRED1 was added\ngene: SPRED1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SPRED1 were set to LEGIUS SYNDROME","entity_name":"SPRED1","entity_type":"gene"},{"created":"2021-10-24T17:54:56.756638+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SPG11 was added\ngene: SPG11 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SPG11 were set to SPASTIC PARAPLEGIA-11","entity_name":"SPG11","entity_type":"gene"},{"created":"2021-10-24T17:54:56.450499+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SPEG was added\ngene: SPEG was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SPEG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SPEG were set to CENTRONUCLEAR MYOPATHY WITH DILATED CARDIOMYOPATHY","entity_name":"SPEG","entity_type":"gene"},{"created":"2021-10-24T17:54:55.863564+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SPATA5 was added\ngene: SPATA5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SPATA5 were set to EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME","entity_name":"SPATA5","entity_type":"gene"},{"created":"2021-10-24T17:54:55.559424+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SPAG1 was added\ngene: SPAG1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SPAG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SPAG1 were set to PRIMARY CILIARY DYSKINESIA ASSOCIATED WITH DEFECTIVE OUTER AND INNER DYNEIN ARMS.","entity_name":"SPAG1","entity_type":"gene"},{"created":"2021-10-24T17:54:55.250539+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SOX9 was added\ngene: SOX9 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SOX9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SOX9 were set to 30712880; 28425981\nPhenotypes for gene: SOX9 were set to CAMPOMELIC DYSPLASIA; PIERRE ROBIN SEQUENCE","entity_name":"SOX9","entity_type":"gene"},{"created":"2021-10-24T17:54:54.669673+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SOX3 was added\ngene: SOX3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SOX3 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: SOX3 were set to Panhypopituitarism, X-linked, OMIM:312000; Panhypopituitarism, X-linked, MONDO:0010712; Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252; Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123","entity_name":"SOX3","entity_type":"gene"},{"created":"2021-10-24T17:54:54.365691+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SOX2 was added\ngene: SOX2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SOX2 were set to AEG SYNDROME; MICROPHTHALMIA SYNDROMIC TYPE 3","entity_name":"SOX2","entity_type":"gene"},{"created":"2021-10-24T17:54:54.060888+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SOX17 was added\ngene: SOX17 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SOX17 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SOX17 were set to VESICOURETERAL REFLUX TYPE 3","entity_name":"SOX17","entity_type":"gene"},{"created":"2021-10-24T17:54:53.752895+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SOX10 was added\ngene: SOX10 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SOX10 were set to KALLMANN SYNDROME WITH DEAFNESS; PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE; WAARDENBURG SYNDROME TYPE 4C; WAARDENBURG SYNDROME TYPE 2E; YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME","entity_name":"SOX10","entity_type":"gene"},{"created":"2021-10-24T17:54:53.163654+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SOST was added\ngene: SOST was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SOST was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: SOST were set to Craniodiaphyseal dysplasia, autosomal dominant, 122860; Sclerosteosis 1, 269500; SOST-Related Sclerosing Bone Dysplasias 122860","entity_name":"SOST","entity_type":"gene"},{"created":"2021-10-24T17:54:52.858404+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SOS2 was added\ngene: SOS2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SOS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SOS2 were set to Noonan syndrome 9, 616559; Fetal hydrops","entity_name":"SOS2","entity_type":"gene"},{"created":"2021-10-24T17:54:52.556036+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SOS1 was added\ngene: SOS1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SOS1 were set to NOONAN SYNDROME 4","entity_name":"SOS1","entity_type":"gene"},{"created":"2021-10-24T17:54:52.251884+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SON was added\ngene: SON was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SON was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SON were set to Intellectual Disability, Congenital Malformations, and Failure to Thrive","entity_name":"SON","entity_type":"gene"},{"created":"2021-10-24T17:54:51.669186+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SNX14 was added\ngene: SNX14 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SNX14 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SNX14 were set to ID, MACROCEPHALY AND CEREBELLAR HYPOPLASIA","entity_name":"SNX14","entity_type":"gene"},{"created":"2021-10-24T17:54:51.358996+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SNRPB was added\ngene: SNRPB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SNRPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SNRPB were set to CEREBRO-COSTO-MANDIBULAR SYNDROME","entity_name":"SNRPB","entity_type":"gene"},{"created":"2021-10-24T17:54:51.051670+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SNORD118 was added\ngene: SNORD118 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SNORD118 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SNORD118 were set to Leukoencephalopathy with cerebral calcification & cysts","entity_name":"SNORD118","entity_type":"gene"},{"created":"2021-10-24T17:54:50.669564+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMPD1 was added\ngene: SMPD1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SMPD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SMPD1 were set to NIEMANN-PICK DISEASE TYPE B; NIEMANN-PICK DISEASE TYPE A","entity_name":"SMPD1","entity_type":"gene"},{"created":"2021-10-24T17:54:50.165853+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMOC1 was added\ngene: SMOC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SMOC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SMOC1 were set to OPHTHALMOACROMELIC SYNDROME","entity_name":"SMOC1","entity_type":"gene"},{"created":"2021-10-24T17:54:49.860420+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMO was added\ngene: SMO was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SMO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SMO were set to Curry-Jones Syndrome","entity_name":"SMO","entity_type":"gene"},{"created":"2021-10-24T17:54:49.557894+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMN1 was added\ngene: SMN1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SMN1 were set to 32644125; 11826188; 32644120\nPhenotypes for gene: SMN1 were set to Spinal muscular atrophy 253400; Spinal muscular atrophy 271150; Spinal muscular atrophy 253550; Spinal muscular atrophy 253300","entity_name":"SMN1","entity_type":"gene"},{"created":"2021-10-24T17:54:49.253258+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMCHD1 was added\ngene: SMCHD1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SMCHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SMCHD1 were set to Isolated Arhinia/Bosma Arhinia syndrome","entity_name":"SMCHD1","entity_type":"gene"},{"created":"2021-10-24T17:54:48.668607+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMC3 was added\ngene: SMC3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SMC3 were set to CORNELIA DE LANGE SYNDROME TYPE 3","entity_name":"SMC3","entity_type":"gene"},{"created":"2021-10-24T17:54:48.363002+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMC1A was added\ngene: SMC1A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SMC1A 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: SMC1A were set to Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771; Cornelia de Lange syndrome 2, OMIM:300590; Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044; Cornelia de Lange syndrome 2, MONDO:0010370","entity_name":"SMC1A","entity_type":"gene"},{"created":"2021-10-24T17:54:48.060374+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMARCB1 was added\ngene: SMARCB1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SMARCB1 were set to RHABDOID PREDISPOSITION SYNDROME 1; ?COFFIN-SIRIS SYNDROME","entity_name":"SMARCB1","entity_type":"gene"},{"created":"2021-10-24T17:54:47.553146+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMARCA4 was added\ngene: SMARCA4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SMARCA4 were set to COFFIN SIRIS; RHABDOID TUMOR PREDISPOSITION SYNDROME 2","entity_name":"SMARCA4","entity_type":"gene"},{"created":"2021-10-24T17:54:47.245319+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMARCA2 was added\ngene: SMARCA2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SMARCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SMARCA2 were set to COFFIN SIRIS; NICOLAIDES-BARAITSER SYNDROME","entity_name":"SMARCA2","entity_type":"gene"},{"created":"2021-10-24T17:54:46.869512+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMAD4 was added\ngene: SMAD4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SMAD4 were set to JUVENILE POLYPOSIS SYNDROME; MYHRE SYNDROME; JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME","entity_name":"SMAD4","entity_type":"gene"},{"created":"2021-10-24T17:54:46.564048+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMAD3 was added\ngene: SMAD3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SMAD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SMAD3 were set to SMAD3-RELATED LOEYS-DIETZ SYNDROME","entity_name":"SMAD3","entity_type":"gene"},{"created":"2021-10-24T17:54:46.057783+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLX4 was added\ngene: SLX4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SLX4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLX4 were set to 21240277; 21240275\nPhenotypes for gene: SLX4 were set to FANCONI ANEMIA COMPLEMENTATION GROUP P","entity_name":"SLX4","entity_type":"gene"},{"created":"2021-10-24T17:54:45.756391+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC39A8 was added\ngene: SLC39A8 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC39A8 were set to Intellectual Disability with Cerebellar Atrophy","entity_name":"SLC39A8","entity_type":"gene"},{"created":"2021-10-24T17:54:45.455124+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC35D1 was added\ngene: SLC35D1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SLC35D1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC35D1 were set to SCHNECKENBECKEN DYSPLASIA","entity_name":"SLC35D1","entity_type":"gene"},{"created":"2021-10-24T17:54:45.150237+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC35C1 was added\ngene: SLC35C1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SLC35C1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC35C1 were set to CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2C","entity_name":"SLC35C1","entity_type":"gene"},{"created":"2021-10-24T17:54:44.568741+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC35A2 was added\ngene: SLC35A2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SLC35A2 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: SLC35A2 were set to CONGENITAL DISORDER OF GLYCOSYLATION","entity_name":"SLC35A2","entity_type":"gene"},{"created":"2021-10-24T17:54:44.267791+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC33A1 was added\ngene: SLC33A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SLC33A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC33A1 were set to AUTOSOMAL-RECESSIVE DISORDER WITH CONGENITAL CATARACTS, HEARING LOSS, AND LOW SERUM COPPER AND CERULOPLASMIN","entity_name":"SLC33A1","entity_type":"gene"},{"created":"2021-10-24T17:54:43.963815+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC2A10 was added\ngene: SLC2A10 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC2A10 were set to ARTERIAL TORTUOSITY SYNDROME","entity_name":"SLC2A10","entity_type":"gene"},{"created":"2021-10-24T17:54:43.669109+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC27A4 was added\ngene: SLC27A4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SLC27A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC27A4 were set to ICHTHYOSIS PREMATURITY SYNDROME","entity_name":"SLC27A4","entity_type":"gene"},{"created":"2021-10-24T17:54:43.155721+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC26A3 was added\ngene: SLC26A3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SLC26A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC26A3 were set to Chloride diarrhea, congenital, Finnish type 214700","entity_name":"SLC26A3","entity_type":"gene"},{"created":"2021-10-24T17:54:42.846291+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC26A2 was added\ngene: SLC26A2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SLC26A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC26A2 were set to ACHONDROGENESIS TYPE 1B; DIASTROPHIC DYSPLASIA; ATELOSTEOGENESIS TYPE 2; MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4","entity_name":"SLC26A2","entity_type":"gene"},{"created":"2021-10-24T17:54:42.477361+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC25A38 was added\ngene: SLC25A38 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A38 were set to ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE","entity_name":"SLC25A38","entity_type":"gene"},{"created":"2021-10-24T17:54:42.176191+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC25A24 was added\ngene: SLC25A24 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SLC25A24 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SLC25A24 were set to Gorlin-Chaudhry-Moss syndrome (GCMS); Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction","entity_name":"SLC25A24","entity_type":"gene"},{"created":"2021-10-24T17:54:41.664456+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC25A20 was added\ngene: SLC25A20 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A20 were set to CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY","entity_name":"SLC25A20","entity_type":"gene"},{"created":"2021-10-24T17:54:41.353964+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC17A5 was added\ngene: SLC17A5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC17A5 were set to SALLA DISEASE; INFANTILE SIALIC ACID STORAGE DISORDER","entity_name":"SLC17A5","entity_type":"gene"},{"created":"2021-10-24T17:54:41.052024+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC16A2 was added\ngene: SLC16A2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: SLC16A2 were set to MCT8 (SLC16A2)-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY","entity_name":"SLC16A2","entity_type":"gene"},{"created":"2021-10-24T17:54:40.752684+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC13A5 was added\ngene: SLC13A5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SLC13A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC13A5 were set to EPILEPTIC ENCEPHALOPATHY WITH SEIZURE ONSET IN THE FIRST DAYS OF LIFE","entity_name":"SLC13A5","entity_type":"gene"},{"created":"2021-10-24T17:54:40.206983+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC12A6 was added\ngene: SLC12A6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SLC12A6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC12A6 were set to 31439721; 21628467; 16606917; 12368912; 27485015; 17893295\nPhenotypes for gene: SLC12A6 were set to AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY","entity_name":"SLC12A6","entity_type":"gene"},{"created":"2021-10-24T17:54:39.868141+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC12A1 was added\ngene: SLC12A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SLC12A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC12A1 were set to Bartter syndrome, type 1 601678","entity_name":"SLC12A1","entity_type":"gene"},{"created":"2021-10-24T17:54:39.567303+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC10A7 was added\ngene: SLC10A7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SLC10A7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC10A7 were set to 29878199; 30082715\nPhenotypes for gene: SLC10A7 were set to Chondrodysplasia with multiple dislocations and amelogenesis imperfecta","entity_name":"SLC10A7","entity_type":"gene"},{"created":"2021-10-24T17:54:39.059241+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SKI was added\ngene: SKI was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SKI was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SKI were set to SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME","entity_name":"SKI","entity_type":"gene"},{"created":"2021-10-24T17:54:38.759025+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SIX5 was added\ngene: SIX5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SIX5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SIX5 were set to BRANCHIOOTORENAL SYNDROME TYPE 2","entity_name":"SIX5","entity_type":"gene"},{"created":"2021-10-24T17:54:38.455582+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SIX3 was added\ngene: SIX3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SIX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SIX3 were set to HOLOPROSENCEPHALY","entity_name":"SIX3","entity_type":"gene"},{"created":"2021-10-24T17:54:38.152776+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SIL1 was added\ngene: SIL1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SIL1 were set to Marinesco-Sjogren syndrome, 248800","entity_name":"SIL1","entity_type":"gene"},{"created":"2021-10-24T17:54:37.578000+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SIK3 was added\ngene: SIK3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SIK3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SIK3 were set to 30232230; 22318228\nPhenotypes for gene: SIK3 were set to Spondyloepimetaphyseal dysplasia, Krakow type, 618162","entity_name":"SIK3","entity_type":"gene"},{"created":"2021-10-24T17:54:37.275916+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SHOX was added\ngene: SHOX was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SHOX was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPhenotypes for gene: SHOX were set to LANGER MESOMELIC DYSPLASIA; LERI-WEILL DYSCHONDROSTEOSIS","entity_name":"SHOX","entity_type":"gene"},{"created":"2021-10-24T17:54:36.988896+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SHOC2 was added\ngene: SHOC2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SHOC2 were set to NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR","entity_name":"SHOC2","entity_type":"gene"},{"created":"2021-10-24T17:54:36.664291+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SHH was added\ngene: SHH was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SHH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SHH were set to MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 5; TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME; HOLOPROSENCEPHALY TYPE 3; SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR","entity_name":"SHH","entity_type":"gene"},{"created":"2021-10-24T17:54:36.156426+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SH3PXD2B was added\ngene: SH3PXD2B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SH3PXD2B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SH3PXD2B were set to FRANK-TER HAAR SYNDROME","entity_name":"SH3PXD2B","entity_type":"gene"},{"created":"2021-10-24T17:54:35.855126+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SGPL1 was added\ngene: SGPL1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SGPL1 were set to Nephrotic syndrome type 14, 617575; Fetal hydrops","entity_name":"SGPL1","entity_type":"gene"},{"created":"2021-10-24T17:54:35.555115+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SF3B4 was added\ngene: SF3B4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SF3B4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SF3B4 were set to ACROFACIAL DYSOSTOSIS 1, NAGER TYPE","entity_name":"SF3B4","entity_type":"gene"},{"created":"2021-10-24T17:54:35.253744+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SETD5 was added\ngene: SETD5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SETD5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SETD5 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 23","entity_name":"SETD5","entity_type":"gene"},{"created":"2021-10-24T17:54:34.746232+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SETBP1 was added\ngene: SETBP1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SETBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SETBP1 were set to DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY; SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME","entity_name":"SETBP1","entity_type":"gene"},{"created":"2021-10-24T17:54:34.378431+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SEPSECS was added\ngene: SEPSECS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SEPSECS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SEPSECS were set to 26805434; 26888482; 29464431\nPhenotypes for gene: SEPSECS were set to Pontocerebellar hypoplasia type 2D","entity_name":"SEPSECS","entity_type":"gene"},{"created":"2021-10-24T17:54:34.069114+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SEC23B was added\ngene: SEC23B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SEC23B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SEC23B were set to 20381388\nPhenotypes for gene: SEC23B were set to ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II","entity_name":"SEC23B","entity_type":"gene"},{"created":"2021-10-24T17:54:33.779079+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SDCCAG8 was added\ngene: SDCCAG8 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SDCCAG8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SDCCAG8 were set to SENIOR-LOKEN SYNDROME 7","entity_name":"SDCCAG8","entity_type":"gene"},{"created":"2021-10-24T17:54:33.265955+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SCO2 was added\ngene: SCO2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCO2 were set to 15210538; 18924171\nPhenotypes for gene: SCO2 were set to FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY","entity_name":"SCO2","entity_type":"gene"},{"created":"2021-10-24T17:54:32.963425+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SCN4A was added\ngene: SCN4A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SCN4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SCN4A were set to HYPERKALEMIC PERIODIC PARALYSIS TYPE 1; PARAMYOTONIA CONGENITA OF VON EULENBURG; HYPOKALEMIC PERIODIC PARALYSIS","entity_name":"SCN4A","entity_type":"gene"},{"created":"2021-10-24T17:54:32.660926+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SCN2A was added\ngene: SCN2A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SCN2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SCN2A were set to 30712878\nPhenotypes for gene: SCN2A were set to NONSPECIFIC SEVERE ID; INFANTILE EPILEPTIC ENCEPHALOPATHY; BENIGN FAMILIAL NEONATAL INFANTILE SEIZURES","entity_name":"SCN2A","entity_type":"gene"},{"created":"2021-10-24T17:54:32.362577+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SCARF2 was added\ngene: SCARF2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SCARF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SCARF2 were set to VAN DEN ENDE-GUPTA SYNDROME","entity_name":"SCARF2","entity_type":"gene"},{"created":"2021-10-24T17:54:31.856896+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SC5D was added\ngene: SC5D was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SC5D was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SC5D were set to LATHOSTEROLOSIS","entity_name":"SC5D","entity_type":"gene"},{"created":"2021-10-24T17:54:31.558911+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SBDS was added\ngene: SBDS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SBDS were set to SHWACHMAN-DIAMOND SYNDROME","entity_name":"SBDS","entity_type":"gene"},{"created":"2021-10-24T17:54:31.178531+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SATB2 was added\ngene: SATB2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SATB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SATB2 were set to NONSPECIFIC SEVERE ID; SYNDROMAL PIERRE ROBIN SEQUENCE; CLEFT PALATE ISOLATED","entity_name":"SATB2","entity_type":"gene"},{"created":"2021-10-24T17:54:30.872512+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SAMHD1 was added\ngene: SAMHD1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SAMHD1 were set to AICARDI-GOUTIERES SYNDROME","entity_name":"SAMHD1","entity_type":"gene"},{"created":"2021-10-24T17:54:30.366663+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SAMD9 was added\ngene: SAMD9 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SAMD9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SAMD9 were set to 28346228; 27182967\nPhenotypes for gene: SAMD9 were set to MIRAGE - myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy\nMode of pathogenicity for gene: SAMD9 was set to Other","entity_name":"SAMD9","entity_type":"gene"},{"created":"2021-10-24T17:54:30.062521+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SALL4 was added\ngene: SALL4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SALL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SALL4 were set to ACRO-RENAL-OCULAR SYNDROME; DUANE-RADIAL RAY SYNDROME","entity_name":"SALL4","entity_type":"gene"},{"created":"2021-10-24T17:54:29.759836+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SALL1 was added\ngene: SALL1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SALL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SALL1 were set to TOWNES-BROCKS SYNDROME","entity_name":"SALL1","entity_type":"gene"},{"created":"2021-10-24T17:54:29.460230+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RYR1 was added\ngene: RYR1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: RYR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RYR1 were set to MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA","entity_name":"RYR1","entity_type":"gene"},{"created":"2021-10-24T17:54:28.953415+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RUNX2 was added\ngene: RUNX2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: RUNX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: RUNX2 were set to CLEIDOCRANIAL DYSPLASIA","entity_name":"RUNX2","entity_type":"gene"},{"created":"2021-10-24T17:54:28.653908+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RTTN was added\ngene: RTTN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: RTTN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RTTN were set to BILATERAL DIFFUSE POLYMICROGYRIA","entity_name":"RTTN","entity_type":"gene"},{"created":"2021-10-24T17:54:28.353756+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RTEL1 was added\ngene: RTEL1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: RTEL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RTEL1 were set to DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5; DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4","entity_name":"RTEL1","entity_type":"gene"},{"created":"2021-10-24T17:54:28.053715+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RRM2B was added\ngene: RRM2B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: RRM2B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RRM2B were set to Mitochondrial depletion syndrome","entity_name":"RRM2B","entity_type":"gene"},{"created":"2021-10-24T17:54:27.550474+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPS6KA3 was added\ngene: RPS6KA3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: RPS6KA3 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: RPS6KA3 were set to COFFIN-LOWRY SYNDROME","entity_name":"RPS6KA3","entity_type":"gene"},{"created":"2021-10-24T17:54:27.246225+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPS26 was added\ngene: RPS26 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: RPS26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: RPS26 were set to Diamond-Blackfan anemia 10 613309","entity_name":"RPS26","entity_type":"gene"},{"created":"2021-10-24T17:54:26.946081+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPS19 was added\ngene: RPS19 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: RPS19 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: RPS19 were set to RPS19-RELATED DIAMOND-BLACKFAN ANEMIA","entity_name":"RPS19","entity_type":"gene"},{"created":"2021-10-24T17:54:26.645329+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPS17 was added\ngene: RPS17 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: RPS17 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: RPS17 were set to Diamond-Blackfan anemia 4 612527","entity_name":"RPS17","entity_type":"gene"},{"created":"2021-10-24T17:54:26.076047+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPS10 was added\ngene: RPS10 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: RPS10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: RPS10 were set to Diamond-Blackfan anemia 9 613308","entity_name":"RPS10","entity_type":"gene"}]}