{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1177","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1175","results":[{"created":"2021-10-24T17:52:12.746302+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DOK7 was added\ngene: DOK7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DOK7 were set to 30266093\nPhenotypes for gene: DOK7 were set to Myasthenic syndrome, congenital, 10, 254300; ?Fetal akinesia deformation sequence 3, 618389","entity_name":"DOK7","entity_type":"gene"},{"created":"2021-10-24T17:52:12.561470+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DOCK6 was added\ngene: DOCK6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DOCK6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DOCK6 were set to ADAMS-OLIVER SYNDROME 2","entity_name":"DOCK6","entity_type":"gene"},{"created":"2021-10-24T17:52:12.375593+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DNMT3B was added\ngene: DNMT3B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DNMT3B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNMT3B were set to IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1","entity_name":"DNMT3B","entity_type":"gene"},{"created":"2021-10-24T17:52:12.258195+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DNMT3A was added\ngene: DNMT3A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DNMT3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: DNMT3A were set to OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY","entity_name":"DNMT3A","entity_type":"gene"},{"created":"2021-10-24T17:52:12.113113+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DNAI1 was added\ngene: DNAI1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DNAI1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAI1 were set to Primary ciliary dyskinesia 244400","entity_name":"DNAI1","entity_type":"gene"},{"created":"2021-10-24T17:52:11.945652+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DNAH9 was added\ngene: DNAH9 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DNAH9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAH9 were set to 30471717; 30471718\nPhenotypes for gene: DNAH9 were set to Motile Cilia Defects and Situs Inversus","entity_name":"DNAH9","entity_type":"gene"},{"created":"2021-10-24T17:52:11.792966+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DNAH5 was added\ngene: DNAH5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DNAH5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAH5 were set to CILIARY DYSKINESIA, PRIMARY, 3; Primary ciliary dyskinesia 608644; heterotaxy","entity_name":"DNAH5","entity_type":"gene"},{"created":"2021-10-24T17:52:11.602675+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DNAH11 was added\ngene: DNAH11 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DNAH11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAH11 were set to Primary ciliary dyskinesia 611884","entity_name":"DNAH11","entity_type":"gene"},{"created":"2021-10-24T17:52:11.419748+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DNAAF4 was added\ngene: DNAAF4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DNAAF4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAAF4 were set to PRIMARY CILIARY DYSPLASIA","entity_name":"DNAAF4","entity_type":"gene"},{"created":"2021-10-24T17:52:11.280046+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DNAAF3 was added\ngene: DNAAF3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DNAAF3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAAF3 were set to PRIMARY CILIARY DYSKINEASIA; Ciliary dyskinesia, primary, 2, MIM:606763","entity_name":"DNAAF3","entity_type":"gene"},{"created":"2021-10-24T17:52:11.093487+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DNAAF1 was added\ngene: DNAAF1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DNAAF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAAF1 were set to Primary ciliary dyskinesia 613193","entity_name":"DNAAF1","entity_type":"gene"},{"created":"2021-10-24T17:52:10.876046+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DMPK was added\ngene: DMPK was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DMPK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: DMPK were set to DYSTROPHIA MYOTONICA TYPE 1","entity_name":"DMPK","entity_type":"gene"},{"created":"2021-10-24T17:52:10.757763+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DLL4 was added\ngene: DLL4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DLL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: DLL4 were set to ADAMS-OLIVER SYNDROME 6","entity_name":"DLL4","entity_type":"gene"},{"created":"2021-10-24T17:52:10.586479+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DLL3 was added\ngene: DLL3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DLL3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DLL3 were set to SPONDYLOCOSTAL DYSOSTOSIS TYPE 1","entity_name":"DLL3","entity_type":"gene"},{"created":"2021-10-24T17:52:10.455879+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DKC1 was added\ngene: DKC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: DKC1 were set to DKC1-RELATED DYSKERATOSIS CONGENITA; DYSKERATOSIS CONGENITA, X-LINKED","entity_name":"DKC1","entity_type":"gene"},{"created":"2021-10-24T17:52:10.271914+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DIS3L2 was added\ngene: DIS3L2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DIS3L2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DIS3L2 were set to PERLMAN SYNDROME","entity_name":"DIS3L2","entity_type":"gene"},{"created":"2021-10-24T17:52:10.153665+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DHODH was added\ngene: DHODH was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DHODH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DHODH were set to POSTAXIAL ACROFACIAL DYSOSTOSIS","entity_name":"DHODH","entity_type":"gene"},{"created":"2021-10-24T17:52:09.969996+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DHFR was added\ngene: DHFR was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DHFR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DHFR were set to MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY","entity_name":"DHFR","entity_type":"gene"},{"created":"2021-10-24T17:52:09.777574+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DHCR7 was added\ngene: DHCR7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DHCR7 were set to 31840946\nPhenotypes for gene: DHCR7 were set to SMITH-LEMLI-OPITZ SYNDROME","entity_name":"DHCR7","entity_type":"gene"},{"created":"2021-10-24T17:52:09.658930+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DHCR24 was added\ngene: DHCR24 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DHCR24 were set to DESMOSTEROLOSIS","entity_name":"DHCR24","entity_type":"gene"},{"created":"2021-10-24T17:52:09.477366+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DDX3X was added\ngene: DDX3X was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DDX3X 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: DDX3X were set to 30266093; 26235985; 25533962\nPhenotypes for gene: DDX3X were set to Intellectual disability; INTELLECTUAL DIABILITY; Mental retardation, X-linked 102, 300958","entity_name":"DDX3X","entity_type":"gene"},{"created":"2021-10-24T17:52:09.359336+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DDX11 was added\ngene: DDX11 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DDX11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DDX11 were set to WARSAW BREAKAGE SYNDROME","entity_name":"DDX11","entity_type":"gene"},{"created":"2021-10-24T17:52:09.181139+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DDR2 was added\ngene: DDR2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DDR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DDR2 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA SHORT LIMB-HAND TYPE","entity_name":"DDR2","entity_type":"gene"},{"created":"2021-10-24T17:52:09.060347+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DCX was added\ngene: DCX was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DCX 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: DCX were set to LISSENCEPHALY X-LINKED TYPE 1; SUBCORTICAL BAND HETEROTOPIA X-LINKED","entity_name":"DCX","entity_type":"gene"},{"created":"2021-10-24T17:52:08.945238+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DCHS1 was added\ngene: DCHS1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DCHS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DCHS1 were set to PERIVENTRICULAR NEURONAL HETEROTOPIA","entity_name":"DCHS1","entity_type":"gene"},{"created":"2021-10-24T17:52:08.760344+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DARS was added\ngene: DARS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DARS were set to HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY.","entity_name":"DARS","entity_type":"gene"},{"created":"2021-10-24T17:52:08.580484+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DAG1 was added\ngene: DAG1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: DAG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DAG1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C7","entity_name":"DAG1","entity_type":"gene"},{"created":"2021-10-24T17:52:08.463941+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CYP2U1 was added\ngene: CYP2U1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP2U1 were set to HEREDITARY SPASTIC PARAPLEGIA","entity_name":"CYP2U1","entity_type":"gene"},{"created":"2021-10-24T17:52:08.346264+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CYP21A2 was added\ngene: CYP21A2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CYP21A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP21A2 were set to Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency; Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency","entity_name":"CYP21A2","entity_type":"gene"},{"created":"2021-10-24T17:52:08.160336+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CYP1B1 was added\ngene: CYP1B1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CYP1B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP1B1 were set to PRIMARY CONGENITAL GLAUCOMA TYPE 3A","entity_name":"CYP1B1","entity_type":"gene"},{"created":"2021-10-24T17:52:08.048914+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CYP17A1 was added\ngene: CYP17A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CYP17A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP17A1 were set to 17-alpha-hydroxylase/17,20-lyase deficiency; 17,20-lyase deficiency, isolated","entity_name":"CYP17A1","entity_type":"gene"},{"created":"2021-10-24T17:52:07.865882+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CYP11B1 was added\ngene: CYP11B1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CYP11B1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: CYP11B1 were set to Aldosteronism, glucocorticoid-remediable 103900; Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency 202010","entity_name":"CYP11B1","entity_type":"gene"},{"created":"2021-10-24T17:52:07.751939+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CYP11A1 was added\ngene: CYP11A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CYP11A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYP11A1 were set to 28425981\nPhenotypes for gene: CYP11A1 were set to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete 613743","entity_name":"CYP11A1","entity_type":"gene"},{"created":"2021-10-24T17:52:07.568254+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CWC27 was added\ngene: CWC27 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CWC27 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CWC27 were set to 28285769\nPhenotypes for gene: CWC27 were set to Retinitis pigmentosa, skeletal anomalies and intellectual disability","entity_name":"CWC27","entity_type":"gene"},{"created":"2021-10-24T17:52:07.451965+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CUL7 was added\ngene: CUL7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CUL7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CUL7 were set to 3-M SYNDROME 1","entity_name":"CUL7","entity_type":"gene"},{"created":"2021-10-24T17:52:07.271783+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CUL4B was added\ngene: CUL4B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CUL4B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CUL4B were set to MENTAL RETARDATION SYNDROMIC X-LINKED CABEZAS TYPE","entity_name":"CUL4B","entity_type":"gene"},{"created":"2021-10-24T17:52:07.153904+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CTSK was added\ngene: CTSK was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CTSK were set to PYCNODYSOSTOSIS","entity_name":"CTSK","entity_type":"gene"},{"created":"2021-10-24T17:52:06.972409+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CTSD was added\ngene: CTSD was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CTSD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CTSD were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 10","entity_name":"CTSD","entity_type":"gene"},{"created":"2021-10-24T17:52:06.855222+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CTSA was added\ngene: CTSA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CTSA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CTSA were set to 7759227\nPhenotypes for gene: CTSA were set to GALACTOSIALIDOSIS","entity_name":"CTSA","entity_type":"gene"},{"created":"2021-10-24T17:52:06.673123+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CTNNB1 was added\ngene: CTNNB1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CTNNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CTNNB1 were set to 27915094\nPhenotypes for gene: CTNNB1 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 19","entity_name":"CTNNB1","entity_type":"gene"},{"created":"2021-10-24T17:52:06.556631+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CTCF was added\ngene: CTCF was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CTCF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CTCF were set to INTELLECTUAL DISABILITY","entity_name":"CTCF","entity_type":"gene"},{"created":"2021-10-24T17:52:06.374582+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CTC1 was added\ngene: CTC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CTC1 were set to CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS","entity_name":"CTC1","entity_type":"gene"},{"created":"2021-10-24T17:52:06.257125+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CSPP1 was added\ngene: CSPP1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CSPP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CSPP1 were set to JOUBERT SYNDROME WITH OR WITHOUT JEUNE ASPHYXIATING THORACIC DYSTROPHY","entity_name":"CSPP1","entity_type":"gene"},{"created":"2021-10-24T17:52:06.076736+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CSNK2A1 was added\ngene: CSNK2A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CSNK2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CSNK2A1 were set to CSNK2A1 syndrome; Okur-Chung neurodevelopmental syndrome, 617062","entity_name":"CSNK2A1","entity_type":"gene"},{"created":"2021-10-24T17:52:05.963331+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CRYGD was added\ngene: CRYGD was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CRYGD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CRYGD were set to CATARACT AUTOSOMAL DOMINANT; CATARACT CONGENITAL CERULEAN TYPE 3","entity_name":"CRYGD","entity_type":"gene"},{"created":"2021-10-24T17:52:05.847551+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CRYGC was added\ngene: CRYGC was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CRYGC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CRYGC were set to CATARACT AUTOSOMAL DOMINANT","entity_name":"CRYGC","entity_type":"gene"},{"created":"2021-10-24T17:52:05.667598+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CRYBB3 was added\ngene: CRYBB3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CRYBB3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CRYBB3 were set to CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2","entity_name":"CRYBB3","entity_type":"gene"},{"created":"2021-10-24T17:52:05.552618+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CRYBB2 was added\ngene: CRYBB2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CRYBB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CRYBB2 were set to CATARACT, COPPOCK-LIKE; CATARACT, CONGENITAL, CERULEAN TYPE, 2","entity_name":"CRYBB2","entity_type":"gene"},{"created":"2021-10-24T17:52:05.372925+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CRYBB1 was added\ngene: CRYBB1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CRYBB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: CRYBB1 were set to CATARACT 17, MULTIPLE TYPES, MONOALLELIC; CATARACT 17, MULTIPLE TYPES; CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3","entity_name":"CRYBB1","entity_type":"gene"},{"created":"2021-10-24T17:52:05.260131+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CRYBA4 was added\ngene: CRYBA4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CRYBA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CRYBA4 were set to CATARACT ZONULAR TYPE 2","entity_name":"CRYBA4","entity_type":"gene"},{"created":"2021-10-24T17:52:05.076623+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CRYBA1 was added\ngene: CRYBA1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CRYBA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CRYBA1 were set to CATARACT CONGENITAL ZONULAR WITH SUTURAL OPACITIES","entity_name":"CRYBA1","entity_type":"gene"},{"created":"2021-10-24T17:52:04.959797+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CRYAA was added\ngene: CRYAA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CRYAA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: CRYAA were set to CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1; CATARACT, NUCLEAR","entity_name":"CRYAA","entity_type":"gene"},{"created":"2021-10-24T17:52:04.846223+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CRTAP was added\ngene: CRTAP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CRTAP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CRTAP were set to Osteogenesis imperfecta, type VII 610682","entity_name":"CRTAP","entity_type":"gene"},{"created":"2021-10-24T17:52:04.668074+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CRLF1 was added\ngene: CRLF1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CRLF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CRLF1 were set to Cold-induced sweating syndrome 1 272430","entity_name":"CRLF1","entity_type":"gene"},{"created":"2021-10-24T17:52:04.575188+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CREBBP was added\ngene: CREBBP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CREBBP were set to RUBINSTEIN-TAYBI SYNDROME TYPE 1; CREBBP intellectual disability without typical RTS features","entity_name":"CREBBP","entity_type":"gene"},{"created":"2021-10-24T17:52:04.375773+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CRB2 was added\ngene: CRB2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CRB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CRB2 were set to VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE","entity_name":"CRB2","entity_type":"gene"},{"created":"2021-10-24T17:52:04.255587+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CPT2 was added\ngene: CPT2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CPT2 were set to Myopathy due to CPT II deficiency 255110; CPT II deficiency, lethal neonatal 608836; CPT deficiency, hepatic, type II 600649","entity_name":"CPT2","entity_type":"gene"},{"created":"2021-10-24T17:52:04.089119+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COX7B was added\ngene: COX7B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COX7B 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: COX7B were set to MICROPHTHALMIA WITH LINEAR SKIN LESIONS","entity_name":"COX7B","entity_type":"gene"},{"created":"2021-10-24T17:52:03.954566+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COQ9 was added\ngene: COQ9 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COQ9 were set to 30712880\nPhenotypes for gene: COQ9 were set to COENZYME Q10 DEFICIENCY","entity_name":"COQ9","entity_type":"gene"},{"created":"2021-10-24T17:52:03.773816+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COQ4 was added\ngene: COQ4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COQ4 were set to COENZYME Q10 DEFICIENCY, PRIMARY, 7","entity_name":"COQ4","entity_type":"gene"},{"created":"2021-10-24T17:52:03.658955+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COLEC11 was added\ngene: COLEC11 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COLEC11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COLEC11 were set to 3MC SYNDROME 2","entity_name":"COLEC11","entity_type":"gene"},{"created":"2021-10-24T17:52:03.477849+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL9A2 was added\ngene: COL9A2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COL9A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: COL9A2 were set to STICKLER SYNDROME, TYPE V; MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 2","entity_name":"COL9A2","entity_type":"gene"},{"created":"2021-10-24T17:52:03.361818+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL9A1 was added\ngene: COL9A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COL9A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: COL9A1 were set to MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 6; STICKLER SYNDROME TYPE 4","entity_name":"COL9A1","entity_type":"gene"},{"created":"2021-10-24T17:52:03.249311+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL6A3 was added\ngene: COL6A3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL6A3 were set to DYSTONIA 27; ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1","entity_name":"COL6A3","entity_type":"gene"},{"created":"2021-10-24T17:52:03.079848+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL6A2 was added\ngene: COL6A2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COL6A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: COL6A2 were set to Ullrich congenital muscular dystrophy 1 254090; Bethlem myopathy 1 158810","entity_name":"COL6A2","entity_type":"gene"},{"created":"2021-10-24T17:52:02.950464+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL6A1 was added\ngene: COL6A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COL6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: COL6A1 were set to COL6A1 associated myopathy","entity_name":"COL6A1","entity_type":"gene"},{"created":"2021-10-24T17:52:02.773149+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL4A3BP was added\ngene: COL4A3BP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COL4A3BP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: COL4A3BP were set to INTELLECTUAL DISABILITY","entity_name":"COL4A3BP","entity_type":"gene"},{"created":"2021-10-24T17:52:02.652271+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL4A2 was added\ngene: COL4A2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COL4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: COL4A2 were set to 32732225\nPhenotypes for gene: COL4A2 were set to PORENCEPHALY 2","entity_name":"COL4A2","entity_type":"gene"},{"created":"2021-10-24T17:52:02.475258+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL4A1 was added\ngene: COL4A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: COL4A1 were set to 30266093; 32732225; 30712878\nPhenotypes for gene: COL4A1 were set to PORENCEPHALY 1","entity_name":"COL4A1","entity_type":"gene"},{"created":"2021-10-24T17:52:02.304675+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL3A1 was added\ngene: COL3A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COL3A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: COL3A1 were set to 28742248; 24922459; PMID: 28258187; 27168972; 25205403\nPhenotypes for gene: COL3A1 were set to HP:0006496; HP:0002126; HP:0001883","entity_name":"COL3A1","entity_type":"gene"},{"created":"2021-10-24T17:52:02.146194+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL2A1 was added\ngene: COL2A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COL2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: COL2A1 were set to KNIEST DYSPLASIA; SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE; PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE; STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR; RHEGMATOGENOUS RETINAL DETACHMENT AUTOSOMAL DOMINANT; SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; ACHONDROGENESIS TYPE 2; SPONDYLOPERIPHERAL DYSPLASIA","entity_name":"COL2A1","entity_type":"gene"},{"created":"2021-10-24T17:52:01.980815+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL1A2 was added\ngene: COL1A2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COL1A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: COL1A2 were set to Osteogenesis imperfecta; Ehlers-Danlos syndrome","entity_name":"COL1A2","entity_type":"gene"},{"created":"2021-10-24T17:52:01.753245+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL1A1 was added\ngene: COL1A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: COL1A1 were set to OSTEOGENESIS IMPERFECTA TYPE III; CAFFEY DISEASE; OSTEOGENESIS IMPERFECTA TYPE I; OSTEOGENESIS IMPERFECTA TYPE IIA; EHLERS-DANLOS SYNDROME TYPE VIIA; COL1A1/2-RELATED OSTEOGENESIS IMPERFECTA; EHLERS-DANLOS SYNDROME, CLASSIC TYPE, COL1A1-RELATED","entity_name":"COL1A1","entity_type":"gene"},{"created":"2021-10-24T17:52:01.563306+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL18A1 was added\ngene: COL18A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COL18A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL18A1 were set to KNOBLOCH SYNDROME TYPE I","entity_name":"COL18A1","entity_type":"gene"},{"created":"2021-10-24T17:52:01.402644+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL11A2 was added\ngene: COL11A2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COL11A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: COL11A2 were set to DEAFNESS AUTOSOMAL DOMINANT TYPE 13; AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA; WEISSENBACHER-ZWEYMUELLER SYNDROME; STICKLER SYNDROME TYPE 3; DEAFNESS AUTOSOMAL RECESSIVE TYPE 53","entity_name":"COL11A2","entity_type":"gene"},{"created":"2021-10-24T17:52:01.257419+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL11A1 was added\ngene: COL11A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COL11A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: COL11A1 were set to FIBROCHONDROGENESIS; STICKLER SYNDROME, TYPE II","entity_name":"COL11A1","entity_type":"gene"},{"created":"2021-10-24T17:52:01.069723+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL10A1 was added\ngene: COL10A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COL10A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: COL10A1 were set to SCHMID TYPE METAPHYSEAL CHONDRODYSPLASIA","entity_name":"COL10A1","entity_type":"gene"},{"created":"2021-10-24T17:52:00.885305+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COG8 was added\ngene: COG8 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COG8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COG8 were set to 30690882\nPhenotypes for gene: COG8 were set to COG8-CDG","entity_name":"COG8","entity_type":"gene"},{"created":"2021-10-24T17:52:00.765612+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COG7 was added\ngene: COG7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COG7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COG7 were set to COG7-CDG","entity_name":"COG7","entity_type":"gene"},{"created":"2021-10-24T17:52:00.649192+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COG4 was added\ngene: COG4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COG4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COG4 were set to 30290151\nPhenotypes for gene: COG4 were set to COG4-CDG; Saul-Wilson syndrome, 618150","entity_name":"COG4","entity_type":"gene"},{"created":"2021-10-24T17:52:00.488130+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COG1 was added\ngene: COG1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COG1 were set to COG1-CDG","entity_name":"COG1","entity_type":"gene"},{"created":"2021-10-24T17:52:00.345319+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COASY was added\ngene: COASY was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COASY were set to NEURODEGENERATION WITH BRAIN IRON ACCUMULATION","entity_name":"COASY","entity_type":"gene"},{"created":"2021-10-24T17:52:00.173813+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CNTNAP2 was added\ngene: CNTNAP2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CNTNAP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CNTNAP2 were set to CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME","entity_name":"CNTNAP2","entity_type":"gene"},{"created":"2021-10-24T17:51:59.972227+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CNTNAP1 was added\ngene: CNTNAP1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CNTNAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CNTNAP1 were set to LETHAL CONGENITAL CONTRACTURE SYNDROME 7","entity_name":"CNTNAP1","entity_type":"gene"},{"created":"2021-10-24T17:51:59.858816+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CNOT3 was added\ngene: CNOT3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CNOT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CNOT3 were set to CNOT3 syndrome; Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, 618672","entity_name":"CNOT3","entity_type":"gene"},{"created":"2021-10-24T17:51:59.676585+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CNOT1 was added\ngene: CNOT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CNOT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CNOT1 were set to 31006513; 31006510\nPhenotypes for gene: CNOT1 were set to Holoprosencephaly 12, with or without pancreatic agenesis, 618500\nMode of pathogenicity for gene: CNOT1 was set to Other - please provide details in the comments","entity_name":"CNOT1","entity_type":"gene"},{"created":"2021-10-24T17:51:59.562826+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CLPB was added\ngene: CLPB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CLPB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLPB were set to 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA","entity_name":"CLPB","entity_type":"gene"},{"created":"2021-10-24T17:51:59.451506+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CLCN7 was added\ngene: CLCN7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CLCN7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLCN7 were set to Hypopigmentation, organomegaly, and delayed myelination and development, OMIM:618541; Osteopetrosis, autosomal recessive 4, OMIM:611490; Osteopetrosis, autosomal dominant 2, OMIM:166600; CLCN7-RELATED OSTEOPETROSIS","entity_name":"CLCN7","entity_type":"gene"},{"created":"2021-10-24T17:51:59.271772+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CKAP2L was added\ngene: CKAP2L was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CKAP2L was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CKAP2L were set to FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION","entity_name":"CKAP2L","entity_type":"gene"},{"created":"2021-10-24T17:51:59.163877+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHUK was added\ngene: CHUK was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CHUK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHUK were set to COCOON SYNDROME","entity_name":"CHUK","entity_type":"gene"},{"created":"2021-10-24T17:51:59.053624+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHSY1 was added\ngene: CHSY1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CHSY1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHSY1 were set to TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME","entity_name":"CHSY1","entity_type":"gene"},{"created":"2021-10-24T17:51:58.874323+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHST3 was added\ngene: CHST3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CHST3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHST3 were set to SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS","entity_name":"CHST3","entity_type":"gene"},{"created":"2021-10-24T17:51:58.766407+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHST14 was added\ngene: CHST14 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CHST14 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHST14 were set to EHLERS-DANLOS SYNDROME MUSCULOCONTRACTURAL TYPE","entity_name":"CHST14","entity_type":"gene"},{"created":"2021-10-24T17:51:58.655561+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHRNG was added\ngene: CHRNG was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CHRNG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHRNG were set to MULTIPLE PTERYGIUM SYNDROME ESCOBAR VARIANT","entity_name":"CHRNG","entity_type":"gene"},{"created":"2021-10-24T17:51:58.480239+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHRND was added\ngene: CHRND was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CHRND was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHRND were set to Several associated, probably most relevant is lethal multiple pterygium syndrome 253290","entity_name":"CHRND","entity_type":"gene"},{"created":"2021-10-24T17:51:58.369093+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHRNA1 was added\ngene: CHRNA1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CHRNA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CHRNA1 were set to 18252226; 30177536\nPhenotypes for gene: CHRNA1 were set to Multiple pterygium syndrome, lethal type, 253290; MULTIPLE PTERYGIUM SYNDROME LETHAL TYPE","entity_name":"CHRNA1","entity_type":"gene"},{"created":"2021-10-24T17:51:58.258005+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHKB was added\ngene: CHKB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHKB were set to Muscular dystrophy, congenital, megaconial type 602541","entity_name":"CHKB","entity_type":"gene"},{"created":"2021-10-24T17:51:58.147467+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHD7 was added\ngene: CHD7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CHD7 were set to CHARGE SYNDROME; IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM; KALLMANN SYNDROME TYPE 5","entity_name":"CHD7","entity_type":"gene"},{"created":"2021-10-24T17:51:57.971698+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHD4 was added\ngene: CHD4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CHD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CHD4 were set to Sifrim-Hitz-Weiss syndrome MONDO:0014946; Sifrim-Hitz-Weiss syndrome OMIM:617159","entity_name":"CHD4","entity_type":"gene"},{"created":"2021-10-24T17:51:57.862133+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHAT was added\ngene: CHAT was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CHAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHAT were set to Myasthenic syndrome, congenital, 6, presynaptic 254210","entity_name":"CHAT","entity_type":"gene"}]}