{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1162","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1160","results":[{"created":"2021-10-24T18:03:25.757089+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PDSS2 was added\ngene: PDSS2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PDSS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PDSS2 were set to COENZYME Q10 DEFICIENCY, PRIMARY, 3","entity_name":"PDSS2","entity_type":"gene"},{"created":"2021-10-24T18:03:24.949013+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PDHX was added\ngene: PDHX was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PDHX was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PDHX were set to LACTICACIDEMIA DUE TO PDX1 DEFICIENCY","entity_name":"PDHX","entity_type":"gene"},{"created":"2021-10-24T18:03:24.356018+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PDHB was added\ngene: PDHB was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PDHB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDHB were set to 26865159\nPhenotypes for gene: PDHB were set to Pyruvate dehydrogenase E1-beta deficiency, 614111","entity_name":"PDHB","entity_type":"gene"},{"created":"2021-10-24T18:03:23.555444+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PDE6G was added\ngene: PDE6G was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PDE6G was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PDE6G were set to RETINITIS PIGMENTOSA 57","entity_name":"PDE6G","entity_type":"gene"},{"created":"2021-10-24T18:03:22.753810+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PCDH19 was added\ngene: PCDH19 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PCDH19 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: PCDH19 were set to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9","entity_name":"PCDH19","entity_type":"gene"},{"created":"2021-10-24T18:03:22.157164+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PCCB was added\ngene: PCCB was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PCCB were set to PROPIONIC ACIDEMIA","entity_name":"PCCB","entity_type":"gene"},{"created":"2021-10-24T18:03:21.359873+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PCCA was added\ngene: PCCA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PCCA were set to PROPIONIC ACIDEMIA","entity_name":"PCCA","entity_type":"gene"},{"created":"2021-10-24T18:03:20.759740+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PCBD1 was added\ngene: PCBD1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PCBD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PCBD1 were set to HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D","entity_name":"PCBD1","entity_type":"gene"},{"created":"2021-10-24T18:03:19.855549+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PC was added\ngene: PC was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PC were set to PYRUVATE CARBOXYLASE DEFICIENCY","entity_name":"PC","entity_type":"gene"},{"created":"2021-10-24T18:03:18.952203+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PAX9 was added\ngene: PAX9 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PAX9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PAX9 were set to TOOTH AGENESIS, SELECTIVE, 3","entity_name":"PAX9","entity_type":"gene"},{"created":"2021-10-24T18:03:18.356481+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PAH was added\ngene: PAH was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PAH were set to PHENYLKETONURIA; NON-PHENYLKETONURIA HYPERPHENYLALANINEMIA","entity_name":"PAH","entity_type":"gene"},{"created":"2021-10-24T18:03:17.554350+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: OXCT1 was added\ngene: OXCT1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: OXCT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OXCT1 were set to SUCCINYL-COA-3-KETOACID-COA TRANSFERASE DEFICIENCY","entity_name":"OXCT1","entity_type":"gene"},{"created":"2021-10-24T18:03:16.956018+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: OTULIN was added\ngene: OTULIN was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: OTULIN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OTULIN were set to Otulin-related auto inflammatory syndrome","entity_name":"OTULIN","entity_type":"gene"},{"created":"2021-10-24T18:03:16.150044+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: OTOGL was added\ngene: OTOGL was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: OTOGL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OTOGL were set to MODERATE SENSORINEURAL HEARING LOSS","entity_name":"OTOGL","entity_type":"gene"},{"created":"2021-10-24T18:03:15.556199+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: OTC was added\ngene: OTC was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: OTC were set to ORNITHINE TRANSCARBAMYLASE DEFICIENCY","entity_name":"OTC","entity_type":"gene"},{"created":"2021-10-24T18:03:14.753359+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NYX was added\ngene: NYX was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: NYX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: NYX were set to NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A","entity_name":"NYX","entity_type":"gene"},{"created":"2021-10-24T18:03:13.947545+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NTRK1 was added\ngene: NTRK1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NTRK1 were set to CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS","entity_name":"NTRK1","entity_type":"gene"},{"created":"2021-10-24T18:03:13.353499+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NT5C3A was added\ngene: NT5C3A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: NT5C3A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NT5C3A were set to HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY","entity_name":"NT5C3A","entity_type":"gene"},{"created":"2021-10-24T18:03:12.552032+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NT5C2 was added\ngene: NT5C2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: NT5C2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NT5C2 were set to Spastic paraplegia 45, autosomal recessive 613162","entity_name":"NT5C2","entity_type":"gene"},{"created":"2021-10-24T18:03:11.957096+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NSMF was added\ngene: NSMF was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: NSMF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: NSMF were set to Hypogonadotropic hypogonadism 9 with or without anosmia 614838","entity_name":"NSMF","entity_type":"gene"},{"created":"2021-10-24T18:03:11.157356+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NR2F1 was added\ngene: NR2F1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: NR2F1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: NR2F1 were set to BOSCH-BOONSTRA OPTIC ATROPHY SYNDROME","entity_name":"NR2F1","entity_type":"gene"},{"created":"2021-10-24T18:03:10.354384+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NPHS2 was added\ngene: NPHS2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: NPHS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPHS2 were set to NEPHROTIC SYNDROME, TYPE 2","entity_name":"NPHS2","entity_type":"gene"},{"created":"2021-10-24T18:03:09.753790+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NMNAT1 was added\ngene: NMNAT1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: NMNAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NMNAT1 were set to LEBER CONGENITAL AMAUROSIS","entity_name":"NMNAT1","entity_type":"gene"},{"created":"2021-10-24T18:03:08.873064+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NKX2-1 was added\ngene: NKX2-1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: NKX2-1 were set to BENIGN HEREDITARY CHOREA; CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS","entity_name":"NKX2-1","entity_type":"gene"},{"created":"2021-10-24T18:03:08.347419+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NGLY1 was added\ngene: NGLY1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: NGLY1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NGLY1 were set to CONGENITAL DISORDER OF DEGLYCOSYLATION","entity_name":"NGLY1","entity_type":"gene"},{"created":"2021-10-24T18:03:07.550360+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NFU1 was added\ngene: NFU1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: NFU1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NFU1 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1","entity_name":"NFU1","entity_type":"gene"},{"created":"2021-10-24T18:03:06.750109+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NDUFV1 was added\ngene: NDUFV1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFV1 were set to MITOCHONDRIAL COMPLEX I DEFICIENCY","entity_name":"NDUFV1","entity_type":"gene"},{"created":"2021-10-24T18:03:06.155957+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NDUFS8 was added\ngene: NDUFS8 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: NDUFS8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFS8 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY","entity_name":"NDUFS8","entity_type":"gene"},{"created":"2021-10-24T18:03:05.351828+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NDUFS7 was added\ngene: NDUFS7 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: NDUFS7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFS7 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY","entity_name":"NDUFS7","entity_type":"gene"},{"created":"2021-10-24T18:03:04.759957+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NDUFS4 was added\ngene: NDUFS4 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: NDUFS4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFS4 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY; LEIGH SYNDROME; LEIGH SYNDROME DUP","entity_name":"NDUFS4","entity_type":"gene"},{"created":"2021-10-24T18:03:03.955395+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NDUFS1 was added\ngene: NDUFS1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: NDUFS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFS1 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY; LEIGH SYNDROME","entity_name":"NDUFS1","entity_type":"gene"},{"created":"2021-10-24T18:03:03.364740+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NDUFA1 was added\ngene: NDUFA1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: NDUFA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: NDUFA1 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY","entity_name":"NDUFA1","entity_type":"gene"},{"created":"2021-10-24T18:03:02.566116+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NAGS was added\ngene: NAGS was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: NAGS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NAGS were set to N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY","entity_name":"NAGS","entity_type":"gene"},{"created":"2021-10-24T18:03:01.764485+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYT1L was added\ngene: MYT1L was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MYT1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: MYT1L were set to MYT1L syndrome","entity_name":"MYT1L","entity_type":"gene"},{"created":"2021-10-24T18:03:01.157909+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYO7A was added\ngene: MYO7A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MYO7A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MYO7A were set to DEAFNESS AUTOSOMAL RECESSIVE TYPE 2; USHER SYNDROME TYPE 1B","entity_name":"MYO7A","entity_type":"gene"},{"created":"2021-10-24T18:03:00.359084+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYO5B was added\ngene: MYO5B was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MYO5B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MYO5B were set to MICROVILLUS INCLUSION DISEASE","entity_name":"MYO5B","entity_type":"gene"},{"created":"2021-10-24T18:02:59.768265+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYO5A was added\ngene: MYO5A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MYO5A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MYO5A were set to GRISCELLI SYNDROME TYPE 3; ELEJALDE SYNDROME","entity_name":"MYO5A","entity_type":"gene"},{"created":"2021-10-24T18:02:58.960509+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYBPC2 was added\ngene: MYBPC2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MYBPC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYBPC2 were set to 32732226\nPhenotypes for gene: MYBPC2 were set to Hydrops; Hygroma; Fetal akinesia; Multiple pterygium","entity_name":"MYBPC2","entity_type":"gene"},{"created":"2021-10-24T18:02:58.169747+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MUT was added\ngene: MUT was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MUT were set to METHYLMALONIC ACIDURIA TYPE MUT","entity_name":"MUT","entity_type":"gene"},{"created":"2021-10-24T18:02:57.652202+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MT-TP was added\ngene: MT-TP was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene gene: MT-TP was set to MITOCHONDRIAL\nPhenotypes for gene: MT-TP were set to MERRF","entity_name":"MT-TP","entity_type":"gene"},{"created":"2021-10-24T18:02:56.860029+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MTRR was added\ngene: MTRR was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MTRR were set to HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE","entity_name":"MTRR","entity_type":"gene"},{"created":"2021-10-24T18:02:56.262249+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MTR was added\ngene: MTR was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MTR were set to METHYLCOBALAMIN DEFICIENCY TYPE G","entity_name":"MTR","entity_type":"gene"},{"created":"2021-10-24T18:02:55.474578+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MTHFR was added\ngene: MTHFR was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MTHFR were set to METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY","entity_name":"MTHFR","entity_type":"gene"},{"created":"2021-10-24T18:02:54.752758+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MSH6 was added\ngene: MSH6 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MSH6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MSH6 were set to Mismatch repair cancer syndrome 276300","entity_name":"MSH6","entity_type":"gene"},{"created":"2021-10-24T18:02:54.162419+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MSH2 was added\ngene: MSH2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MSH2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MSH2 were set to Mismatch repair cancer syndrome; Mismatch repair cancer syndrome 276300","entity_name":"MSH2","entity_type":"gene"},{"created":"2021-10-24T18:02:53.363405+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MRE11 was added\ngene: MRE11 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MRE11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MRE11 were set to ATAXIA TELANGIECTASIA-LIKE DISORDER","entity_name":"MRE11","entity_type":"gene"},{"created":"2021-10-24T18:02:52.845319+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MPZ was added\ngene: MPZ was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MPZ was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: MPZ were set to Roussy-Levy syndrome  180800; Charcot-Marie-Tooth disease, type 2I 607677; Charcot-Marie-Tooth disease, type 1B 118200; Dejerine-Sottas disease  145900; Charcot-Marie-Tooth disease, type 2J 607736; Charcot-Marie-Tooth disease, dominant intermediate D 607791; Neuropathy, congenital hypomyelinating 605253","entity_name":"MPZ","entity_type":"gene"},{"created":"2021-10-24T18:02:52.055561+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MPV17 was added\ngene: MPV17 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MPV17 were set to MITOCHONDRIAL DNA DEPLETION SYNDROME 6","entity_name":"MPV17","entity_type":"gene"},{"created":"2021-10-24T18:02:51.485058+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MPI was added\ngene: MPI was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MPI were set to MPI-CDG, MONDO:0011257; Congenital disorder of glycosylation, type Ib, OMIM:602579","entity_name":"MPI","entity_type":"gene"},{"created":"2021-10-24T18:02:50.746152+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MMAB was added\ngene: MMAB was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MMAB were set to METHYLMALONIC ACIDURIA TYPE CBLB","entity_name":"MMAB","entity_type":"gene"},{"created":"2021-10-24T18:02:49.952745+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MMAA was added\ngene: MMAA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MMAA were set to METHYLMALONIC ACIDURIA TYPE CBLA","entity_name":"MMAA","entity_type":"gene"},{"created":"2021-10-24T18:02:49.362645+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MLH1 was added\ngene: MLH1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MLH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MLH1 were set to Mismatch repair cancer syndrome 276300","entity_name":"MLH1","entity_type":"gene"},{"created":"2021-10-24T18:02:48.553606+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MICU1 was added\ngene: MICU1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MICU1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MICU1 were set to MYOPATHY WITH EXTRAPYRAMIDAL SIGNS","entity_name":"MICU1","entity_type":"gene"},{"created":"2021-10-24T18:02:47.971264+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MGAT2 was added\ngene: MGAT2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MGAT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MGAT2 were set to CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2A","entity_name":"MGAT2","entity_type":"gene"},{"created":"2021-10-24T18:02:47.250989+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MFSD8 was added\ngene: MFSD8 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MFSD8 were set to MFSD8-RELATED NEURONAL CEROID-LIPOFUSCINOSIS","entity_name":"MFSD8","entity_type":"gene"},{"created":"2021-10-24T18:02:46.661325+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MECP2 was added\ngene: MECP2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MECP2 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: MECP2 were set to 30712880\nPhenotypes for gene: MECP2 were set to MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 13; MENTAL RETARDATION SYNDROMIC X-LINKED LUBS TYPE; CHROMOSOME XQ28 DUPLICATION SYNDROME; ENCEPHALOPATHY NEONATAL SEVERE DUE TO MECP2 MUTATIONS; RETT SYNDROME (RTT)[","entity_name":"MECP2","entity_type":"gene"},{"created":"2021-10-24T18:02:45.866421+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MCEE was added\ngene: MCEE was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MCEE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MCEE were set to METHYLMALONYL-COA EPIMERASE DEFICIENCY","entity_name":"MCEE","entity_type":"gene"},{"created":"2021-10-24T18:02:45.071723+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MCCC2 was added\ngene: MCCC2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MCCC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MCCC2 were set to 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY","entity_name":"MCCC2","entity_type":"gene"},{"created":"2021-10-24T18:02:44.555506+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MCCC1 was added\ngene: MCCC1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MCCC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MCCC1 were set to 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY","entity_name":"MCCC1","entity_type":"gene"},{"created":"2021-10-24T18:02:43.764363+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MC2R was added\ngene: MC2R was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MC2R was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MC2R were set to GLUCOCORTICOID DEFICIENCY 1","entity_name":"MC2R","entity_type":"gene"},{"created":"2021-10-24T18:02:43.249285+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAOA was added\ngene: MAOA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MAOA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: MAOA were set to BRUNNER SYNDROME","entity_name":"MAOA","entity_type":"gene"},{"created":"2021-10-24T18:02:42.458011+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAN2B1 was added\ngene: MAN2B1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MAN2B1 were set to LYSOSOMAL ALPHA-MANNOSIDOSIS","entity_name":"MAN2B1","entity_type":"gene"},{"created":"2021-10-24T18:02:41.665302+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LTBP2 was added\ngene: LTBP2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: LTBP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LTBP2 were set to MICROSPHEROPHAKIA; PRIMARY CONGENITAL GLAUCOMA TYPE 3D","entity_name":"LTBP2","entity_type":"gene"},{"created":"2021-10-24T18:02:41.148275+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LRPPRC was added\ngene: LRPPRC was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: LRPPRC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRPPRC were set to LEIGH SYNDROME, FRENCH-CANADIAN TYPE","entity_name":"LRPPRC","entity_type":"gene"},{"created":"2021-10-24T18:02:40.351610+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LMOD1 was added\ngene: LMOD1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: LMOD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LMOD1 were set to Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH)","entity_name":"LMOD1","entity_type":"gene"},{"created":"2021-10-24T18:02:39.762128+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LEMD3 was added\ngene: LEMD3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: LEMD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: LEMD3 were set to BUSCHKE-OLLENDORFF SYNDROME; MELORHEOSTOSIS","entity_name":"LEMD3","entity_type":"gene"},{"created":"2021-10-24T18:02:38.966332+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LDB3 was added\ngene: LDB3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: LDB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: LDB3 were set to 17394203\nPhenotypes for gene: LDB3 were set to MYOPATHY MYOFIBRILLAR TYPE 4; LEFT VENTRICULAR NON-COMPACTION TYPE 3; CARDIOMYOPATHY DILATED TYPE 1C","entity_name":"LDB3","entity_type":"gene"},{"created":"2021-10-24T18:02:38.449030+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LAMP2 was added\ngene: LAMP2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: LAMP2 were set to DANON DISEASE","entity_name":"LAMP2","entity_type":"gene"},{"created":"2021-10-24T18:02:37.653527+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LAMC2 was added\ngene: LAMC2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: LAMC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAMC2 were set to Epidermolysis bullosa, junctional 226650; Epidermolysis bullosa, junctional 226700","entity_name":"LAMC2","entity_type":"gene"},{"created":"2021-10-24T18:02:36.855638+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LAMB3 was added\ngene: LAMB3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: LAMB3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAMB3 were set to Epidermolysis bullosa, junctional 226650; Epidermolysis bullosa, junctional 226700","entity_name":"LAMB3","entity_type":"gene"},{"created":"2021-10-24T18:02:36.263557+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LAMA3 was added\ngene: LAMA3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: LAMA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAMA3 were set to Epidermolysis bullosa, junctional 226700","entity_name":"LAMA3","entity_type":"gene"},{"created":"2021-10-24T18:02:35.464583+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KMT5B was added\ngene: KMT5B was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: KMT5B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KMT5B were set to KMT5B syndrome","entity_name":"KMT5B","entity_type":"gene"},{"created":"2021-10-24T18:02:34.947333+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KMT2E was added\ngene: KMT2E was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: KMT2E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KMT2E were set to INTELLECTUAL DISABILITY; O'Donnell-Luria-Rodan syndrome, 618512","entity_name":"KMT2E","entity_type":"gene"},{"created":"2021-10-24T18:02:34.191695+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KIT was added\ngene: KIT was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: KIT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KIT were set to HUMAN PIEBALDISM","entity_name":"KIT","entity_type":"gene"},{"created":"2021-10-24T18:02:33.564978+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KISS1R was added\ngene: KISS1R was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: KISS1R was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KISS1R were set to Hypogonadotropic hypogonadism 8 with or without anosmia 614837","entity_name":"KISS1R","entity_type":"gene"},{"created":"2021-10-24T18:02:32.845219+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCTD7 was added\ngene: KCTD7 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: KCTD7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KCTD7 were set to PROGRESSIVE MYOCLONIC EPILEPSY TYPE 3; NEURONAL CEROID LIPOFUSCINOSIS","entity_name":"KCTD7","entity_type":"gene"},{"created":"2021-10-24T18:02:32.052560+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCNT1 was added\ngene: KCNT1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: KCNT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KCNT1 were set to SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY; MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY","entity_name":"KCNT1","entity_type":"gene"},{"created":"2021-10-24T18:02:31.463456+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCNQ3 was added\ngene: KCNQ3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: KCNQ3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KCNQ3 were set to KCNQ3 syndrome","entity_name":"KCNQ3","entity_type":"gene"},{"created":"2021-10-24T18:02:30.745208+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCNQ2 was added\ngene: KCNQ2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KCNQ2 were set to 30712880\nPhenotypes for gene: KCNQ2 were set to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 7; BENIGN NEONATAL EPILEPSY TYPE 1","entity_name":"KCNQ2","entity_type":"gene"},{"created":"2021-10-24T18:02:30.160270+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCNQ1 was added\ngene: KCNQ1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: KCNQ1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KCNQ1 were set to JERVELL AND LANGE-NIELSEN SYNDROME TYPE 1","entity_name":"KCNQ1","entity_type":"gene"},{"created":"2021-10-24T18:02:29.366657+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCNJ11 was added\ngene: KCNJ11 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: KCNJ11 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: KCNJ11 were set to FAMILIAL HYPERINSULINISM; DIABETES MELLITUS, KCNJ11-RELATED TRANSIENT NEONATAL","entity_name":"KCNJ11","entity_type":"gene"},{"created":"2021-10-24T18:02:28.571015+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCNJ10 was added\ngene: KCNJ10 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: KCNJ10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KCNJ10 were set to SEIZURES-SENSORINEURAL DEAFNESS-ATAXIA-MENTAL RETARDATION-ELECTROLYTE IMBALANCE","entity_name":"KCNJ10","entity_type":"gene"},{"created":"2021-10-24T18:02:28.057904+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCNE1 was added\ngene: KCNE1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: KCNE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KCNE1 were set to JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2","entity_name":"KCNE1","entity_type":"gene"},{"created":"2021-10-24T18:02:27.269235+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCNC1 was added\ngene: KCNC1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: KCNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KCNC1 were set to EPILEPSY, PROGRESSIVE MYOCLONIC 7","entity_name":"KCNC1","entity_type":"gene"},{"created":"2021-10-24T18:02:26.671784+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCNB1 was added\ngene: KCNB1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: KCNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KCNB1 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26","entity_name":"KCNB1","entity_type":"gene"},{"created":"2021-10-24T18:02:25.955211+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCNA2 was added\ngene: KCNA2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: KCNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KCNA2 were set to EPILEPTIC ENCEPHALOPATHY.","entity_name":"KCNA2","entity_type":"gene"},{"created":"2021-10-24T18:02:25.364328+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KBTBD13 was added\ngene: KBTBD13 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: KBTBD13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KBTBD13 were set to NEMALINE MYOPATHY 6","entity_name":"KBTBD13","entity_type":"gene"},{"created":"2021-10-24T18:02:24.575528+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KARS was added\ngene: KARS was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KARS were set to DEAFNESS, AUTOSOMAL RECESSIVE 89; CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B","entity_name":"KARS","entity_type":"gene"},{"created":"2021-10-24T18:02:24.047664+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: JAK3 was added\ngene: JAK3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: JAK3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: JAK3 were set to SEVERE COMBINED IMMUNE DEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL -POSITIVE, NK CELL-NEGATIVE, JAK3-RELATED","entity_name":"JAK3","entity_type":"gene"},{"created":"2021-10-24T18:02:23.254547+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: JAGN1 was added\ngene: JAGN1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: JAGN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: JAGN1 were set to SEVERE CONGENITAL NEUTROPENIA","entity_name":"JAGN1","entity_type":"gene"},{"created":"2021-10-24T18:02:22.461005+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IVD was added\ngene: IVD was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IVD were set to ISOVALERIC ACIDEMIA","entity_name":"IVD","entity_type":"gene"},{"created":"2021-10-24T18:02:21.872728+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ITPR1 was added\ngene: ITPR1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ITPR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: ITPR1 were set to SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE; Gillespie Syndrome; SPINOCEREBELLAR ATAXIA TYPE15","entity_name":"ITPR1","entity_type":"gene"},{"created":"2021-10-24T18:02:21.149163+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ITGA7 was added\ngene: ITGA7 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ITGA7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ITGA7 were set to 9590299\nPhenotypes for gene: ITGA7 were set to CONGENITAL MUSCULAR DYSTROPHY","entity_name":"ITGA7","entity_type":"gene"},{"created":"2021-10-24T18:02:20.562518+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IQSEC2 was added\ngene: IQSEC2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: IQSEC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: IQSEC2 were set to MENTAL RETARDATION X-LINKED TYPE 1","entity_name":"IQSEC2","entity_type":"gene"},{"created":"2021-10-24T18:02:19.770032+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IL17RD was added\ngene: IL17RD was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: IL17RD was set to Unknown\nPhenotypes for gene: IL17RD were set to Hypogonadotropic hypogonadism 18 with or without anosmia 615267","entity_name":"IL17RD","entity_type":"gene"},{"created":"2021-10-24T18:02:19.257834+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IGSF1 was added\ngene: IGSF1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: IGSF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: IGSF1 were set to CENTRAL HYPOTHYROIDISM AND TESTICULAR ENLARGEMENT","entity_name":"IGSF1","entity_type":"gene"},{"created":"2021-10-24T18:02:18.452093+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HYDIN was added\ngene: HYDIN was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: HYDIN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HYDIN were set to 30712880\nPhenotypes for gene: HYDIN were set to CILIARY DYSKINESIA, PRIMARY, 5","entity_name":"HYDIN","entity_type":"gene"},{"created":"2021-10-24T18:02:17.656683+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HYAL1 was added\ngene: HYAL1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: HYAL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HYAL1 were set to MUCOPOLYSACCHARIDOSIS TYPE 9","entity_name":"HYAL1","entity_type":"gene"},{"created":"2021-10-24T18:02:17.070329+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HSD3B7 was added\ngene: HSD3B7 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: HSD3B7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HSD3B7 were set to BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1","entity_name":"HSD3B7","entity_type":"gene"},{"created":"2021-10-24T18:02:16.348429+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HSD17B10 was added\ngene: HSD17B10 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: HSD17B10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: HSD17B10 were set to 2-METHYL-3-HYDROXYBUTYRYL-COA DEHYDROGENASE DEFICIENCY; MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 10","entity_name":"HSD17B10","entity_type":"gene"}]}