{"count":220842,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1017","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1015","results":[{"created":"2022-01-28T19:48:55.586630+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2931","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SPECC1L was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SPECC1L","entity_type":"gene"},{"created":"2022-01-28T19:48:45.219323+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2930","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SPECC1L as Green List (high evidence)","entity_name":"SPECC1L","entity_type":"gene"},{"created":"2022-01-28T19:48:45.206491+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2930","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: specc1l has been classified as Green List (High Evidence).","entity_name":"SPECC1L","entity_type":"gene"},{"created":"2022-01-28T19:48:10.344023+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2929","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SP7 as ready","entity_name":"SP7","entity_type":"gene"},{"created":"2022-01-28T19:48:10.334161+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2929","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sp7 has been classified as Red List (Low Evidence).","entity_name":"SP7","entity_type":"gene"},{"created":"2022-01-28T19:47:57.658906+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2929","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SP7 as Red List (low evidence)","entity_name":"SP7","entity_type":"gene"},{"created":"2022-01-28T19:47:57.644834+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2929","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sp7 has been classified as Red List (Low Evidence).","entity_name":"SP7","entity_type":"gene"},{"created":"2022-01-28T19:47:45.721758+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2928","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SP7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteogenesis imperfecta, type XII, MIM# 613849; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SP7","entity_type":"gene"},{"created":"2022-01-28T19:45:13.080974+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2928","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SOX6 as ready","entity_name":"SOX6","entity_type":"gene"},{"created":"2022-01-28T19:45:13.069620+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2928","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sox6 has been classified as Green List (High Evidence).","entity_name":"SOX6","entity_type":"gene"},{"created":"2022-01-28T19:45:05.221886+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2928","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SOX6 were set to ","entity_name":"SOX6","entity_type":"gene"},{"created":"2022-01-28T19:44:53.898989+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2927","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SOX6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SOX6","entity_type":"gene"},{"created":"2022-01-28T19:44:38.975845+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2926","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SOX6 as Green List (high evidence)","entity_name":"SOX6","entity_type":"gene"},{"created":"2022-01-28T19:44:38.959274+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2926","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sox6 has been classified as Green List (High Evidence).","entity_name":"SOX6","entity_type":"gene"},{"created":"2022-01-28T19:44:25.785632+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2925","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Comment when marking as ready: Most individuals had ID, ranging from mild to severe.; to: Comment when marking as ready: Congenital anomalies, in particular craniosynostosis.","entity_name":"SOX6","entity_type":"gene"},{"created":"2022-01-28T19:42:38.488837+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2925","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SOX5 as ready","entity_name":"SOX5","entity_type":"gene"},{"created":"2022-01-28T19:42:38.477307+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2925","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sox5 has been classified as Red List (Low Evidence).","entity_name":"SOX5","entity_type":"gene"},{"created":"2022-01-28T19:40:58.486240+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2925","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SOX5 were changed from 12P12.5 INTRAGENIC DELETIONS ASSOCIATED WITH INTELLECTUAL DISABILITY to Lamb-Shaffer syndrome, MIM#616803","entity_name":"SOX5","entity_type":"gene"},{"created":"2022-01-28T19:40:45.292172+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2924","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SOX5 were set to ","entity_name":"SOX5","entity_type":"gene"},{"created":"2022-01-28T19:40:33.565393+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2923","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SOX5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SOX5","entity_type":"gene"},{"created":"2022-01-28T19:40:21.117457+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2922","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SOX5 as Red List (low evidence)","entity_name":"SOX5","entity_type":"gene"},{"created":"2022-01-28T19:40:21.100937+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2922","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sox5 has been classified as Red List (Low Evidence).","entity_name":"SOX5","entity_type":"gene"},{"created":"2022-01-28T19:40:09.878353+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2921","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Comment when marking as ready: Note many cases reported of intragenic deletion.; to: Comment when marking as ready: Note many cases reported of intragenic deletion.\r\n\r\nPresentation is typically post-natal.","entity_name":"SOX5","entity_type":"gene"},{"created":"2022-01-28T19:39:50.680123+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2921","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SOX5: Changed rating: RED","entity_name":"SOX5","entity_type":"gene"},{"created":"2022-01-28T19:16:18.727535+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2921","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SOX18 as ready","entity_name":"SOX18","entity_type":"gene"},{"created":"2022-01-28T19:16:18.715999+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2921","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sox18 has been classified as Green List (High Evidence).","entity_name":"SOX18","entity_type":"gene"},{"created":"2022-01-28T19:16:09.958723+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2921","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SOX18 were changed from Hypotrichosis-lymphedema-telangiectasia syndrome, MONDO:0011914; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, OMIM:137940; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MONDO:0019073; Hypotrichosis-lymphedema-telangiectasia syndrome, OMIM:607823 to Hypotrichosis-lymphedema-telangiectasia syndrome, MIM# 607823; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MIM# 137940","entity_name":"SOX18","entity_type":"gene"},{"created":"2022-01-28T19:15:46.371948+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2920","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SOX18 were set to ","entity_name":"SOX18","entity_type":"gene"},{"created":"2022-01-28T19:15:32.152688+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2919","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SOX18 as Green List (high evidence)","entity_name":"SOX18","entity_type":"gene"},{"created":"2022-01-28T19:15:32.142053+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2919","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sox18 has been classified as Green List (High Evidence).","entity_name":"SOX18","entity_type":"gene"},{"created":"2022-01-28T19:14:40.686894+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2918","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SNRPE as ready","entity_name":"SNRPE","entity_type":"gene"},{"created":"2022-01-28T19:14:40.675291+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2918","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: snrpe has been classified as Red List (Low Evidence).","entity_name":"SNRPE","entity_type":"gene"},{"created":"2022-01-28T19:14:33.350228+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2918","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SNRPE were changed from AUTOSOMAL-DOMINANT HYPOTRICHOSIS SIMPLEX to Hypotrichosis 11, MIM #615059","entity_name":"SNRPE","entity_type":"gene"},{"created":"2022-01-28T19:14:12.897752+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2917","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SNRPE was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SNRPE","entity_type":"gene"},{"created":"2022-01-28T19:13:53.355493+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2916","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SNRPE as Red List (low evidence)","entity_name":"SNRPE","entity_type":"gene"},{"created":"2022-01-28T19:13:53.339563+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2916","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: snrpe has been classified as Red List (Low Evidence).","entity_name":"SNRPE","entity_type":"gene"},{"created":"2022-01-28T18:38:03.059963+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2915","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SNAP29 as ready","entity_name":"SNAP29","entity_type":"gene"},{"created":"2022-01-28T18:38:03.047672+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2915","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: snap29 has been classified as Green List (High Evidence).","entity_name":"SNAP29","entity_type":"gene"},{"created":"2022-01-28T18:37:52.692177+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2915","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SNAP29 were set to 28388629; 21073448; 15968592","entity_name":"SNAP29","entity_type":"gene"},{"created":"2022-01-28T18:37:28.118976+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2914","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SNAP29 as Green List (high evidence)","entity_name":"SNAP29","entity_type":"gene"},{"created":"2022-01-28T18:37:28.107051+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2914","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: snap29 has been classified as Green List (High Evidence).","entity_name":"SNAP29","entity_type":"gene"},{"created":"2022-01-28T18:36:53.159885+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2913","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SNAP25 as ready","entity_name":"SNAP25","entity_type":"gene"},{"created":"2022-01-28T18:36:53.147054+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2913","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: snap25 has been classified as Amber List (Moderate Evidence).","entity_name":"SNAP25","entity_type":"gene"},{"created":"2022-01-28T18:36:48.646897+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2913","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SNAP25 were changed from Epilepsy and intellectual disability to Myasthenic syndrome, congenital, 18, MIM# 616330; Developmental and epileptic encephalopathy","entity_name":"SNAP25","entity_type":"gene"},{"created":"2022-01-28T18:36:23.509916+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2912","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SNAP25 were set to ","entity_name":"SNAP25","entity_type":"gene"},{"created":"2022-01-28T18:36:04.805438+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2911","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SNAP25 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SNAP25","entity_type":"gene"},{"created":"2022-01-28T18:35:50.608037+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2910","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SNAP25: Rating: AMBER; Mode of pathogenicity: None; Publications: 25381298; Phenotypes: Myasthenic syndrome, congenital, 18, MIM#  616330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SNAP25","entity_type":"gene"},{"created":"2022-01-28T18:32:05.869267+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2910","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMPD4 as ready","entity_name":"SMPD4","entity_type":"gene"},{"created":"2022-01-28T18:32:05.855726+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2910","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smpd4 has been classified as Green List (High Evidence).","entity_name":"SMPD4","entity_type":"gene"},{"created":"2022-01-28T18:31:51.814232+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2910","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SMPD4 as Green List (high evidence)","entity_name":"SMPD4","entity_type":"gene"},{"created":"2022-01-28T18:31:51.804856+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2910","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smpd4 has been classified as Green List (High Evidence).","entity_name":"SMPD4","entity_type":"gene"},{"created":"2022-01-28T18:31:08.386533+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2909","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMG9 as ready","entity_name":"SMG9","entity_type":"gene"},{"created":"2022-01-28T18:31:08.368534+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2909","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smg9 has been classified as Green List (High Evidence).","entity_name":"SMG9","entity_type":"gene"},{"created":"2022-01-28T18:31:03.996748+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2909","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SMG9 were changed from Heart and brain malformation syndrome, 616920; SMG9 Multiple Congenital Anomaly Syndrome to Heart and brain malformation syndrome, MIM# 616920","entity_name":"SMG9","entity_type":"gene"},{"created":"2022-01-28T18:30:42.086949+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2908","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SMG9 as Green List (high evidence)","entity_name":"SMG9","entity_type":"gene"},{"created":"2022-01-28T18:30:42.075047+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2908","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smg9 has been classified as Green List (High Evidence).","entity_name":"SMG9","entity_type":"gene"},{"created":"2022-01-28T18:30:31.338193+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2907","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Three unrelated families reported, severe congenital malformation syndrome, ID is part of the phenotype in survivors. \nSources: Expert list; to: Three unrelated families reported, severe congenital malformation syndrome.\r\nSources: Expert list","entity_name":"SMG9","entity_type":"gene"},{"created":"2022-01-28T18:30:02.271607+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2907","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMARCC1 as ready","entity_name":"SMARCC1","entity_type":"gene"},{"created":"2022-01-28T18:30:02.256535+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2907","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smarcc1 has been classified as Green List (High Evidence).","entity_name":"SMARCC1","entity_type":"gene"},{"created":"2022-01-28T18:29:40.445969+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2907","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SMARCC1 as Green List (high evidence)","entity_name":"SMARCC1","entity_type":"gene"},{"created":"2022-01-28T18:29:40.434632+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2907","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smarcc1 has been classified as Green List (High Evidence).","entity_name":"SMARCC1","entity_type":"gene"},{"created":"2022-01-28T18:28:17.920261+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2906","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC5A7 as ready","entity_name":"SLC5A7","entity_type":"gene"},{"created":"2022-01-28T18:28:17.909577+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2906","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc5a7 has been classified as Green List (High Evidence).","entity_name":"SLC5A7","entity_type":"gene"},{"created":"2022-01-28T18:28:13.183493+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2906","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC5A7 were set to 27569547; 31299140","entity_name":"SLC5A7","entity_type":"gene"},{"created":"2022-01-28T18:27:56.215550+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2905","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC5A7 as Green List (high evidence)","entity_name":"SLC5A7","entity_type":"gene"},{"created":"2022-01-28T18:27:56.205152+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2905","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc5a7 has been classified as Green List (High Evidence).","entity_name":"SLC5A7","entity_type":"gene"},{"created":"2022-01-28T18:27:17.462140+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2904","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC29A3 as ready","entity_name":"SLC29A3","entity_type":"gene"},{"created":"2022-01-28T18:27:17.451095+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2904","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc29a3 has been classified as Green List (High Evidence).","entity_name":"SLC29A3","entity_type":"gene"},{"created":"2022-01-28T18:27:07.282078+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2904","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC29A3 were set to ","entity_name":"SLC29A3","entity_type":"gene"},{"created":"2022-01-28T18:26:53.267129+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2903","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC29A3 as Green List (high evidence)","entity_name":"SLC29A3","entity_type":"gene"},{"created":"2022-01-28T18:26:53.253886+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2903","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc29a3 has been classified as Green List (High Evidence).","entity_name":"SLC29A3","entity_type":"gene"},{"created":"2022-01-28T18:25:41.587020+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2902","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC25A4 as ready","entity_name":"SLC25A4","entity_type":"gene"},{"created":"2022-01-28T18:25:41.573176+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2902","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc25a4 has been classified as Green List (High Evidence).","entity_name":"SLC25A4","entity_type":"gene"},{"created":"2022-01-28T18:25:37.011212+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2902","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC25A4 were changed from Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number to Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184","entity_name":"SLC25A4","entity_type":"gene"},{"created":"2022-01-28T18:25:19.399900+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2901","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC25A4 were set to ","entity_name":"SLC25A4","entity_type":"gene"},{"created":"2022-01-28T18:25:08.102150+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2900","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC25A4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SLC25A4","entity_type":"gene"},{"created":"2022-01-28T18:24:55.609506+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2899","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC25A4 as Green List (high evidence)","entity_name":"SLC25A4","entity_type":"gene"},{"created":"2022-01-28T18:24:55.597671+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2899","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc25a4 has been classified as Green List (High Evidence).","entity_name":"SLC25A4","entity_type":"gene"},{"created":"2022-01-28T18:24:39.839715+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2898","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Variants in this gene cause both dominant and recessive disease. MIM#617184 reported as causing profound hypotonia and frequent need for respiratory support; the other two conditions, one AR and the other AD, appear less severe. Not convinced ID is an intrinsic part of the phenotype.; to: Variants in this gene cause both dominant and recessive disease. MIM#617184 reported as causing profound hypotonia and frequent need for respiratory support; the other two conditions, one AR and the other AD, appear less severe.","entity_name":"SLC25A4","entity_type":"gene"},{"created":"2022-01-28T18:24:23.147064+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2898","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLC25A4: Added comment: Hypertrophic cardiomyopathy is an early feature.; Changed rating: GREEN; Changed phenotypes: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SLC25A4","entity_type":"gene"},{"created":"2022-01-28T18:21:48.832746+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2898","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC1A2 as ready","entity_name":"SLC1A2","entity_type":"gene"},{"created":"2022-01-28T18:21:48.822101+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2898","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc1a2 has been classified as Red List (Low Evidence).","entity_name":"SLC1A2","entity_type":"gene"},{"created":"2022-01-28T18:21:43.923942+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2898","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC1A2 were changed from Developmental and epileptic encephalopathy 41\t617105 to Developmental and epileptic encephalopathy 41, MIM#\t617105","entity_name":"SLC1A2","entity_type":"gene"},{"created":"2022-01-28T18:21:30.316354+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2897","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC1A2 were changed from EPILEPTIC ENCEPHALOPATHY to Developmental and epileptic encephalopathy 41\t617105","entity_name":"SLC1A2","entity_type":"gene"},{"created":"2022-01-28T18:21:05.161069+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2896","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC1A2 were set to ","entity_name":"SLC1A2","entity_type":"gene"},{"created":"2022-01-28T18:20:27.839575+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2895","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC1A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SLC1A2","entity_type":"gene"},{"created":"2022-01-28T18:20:07.742214+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2894","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC1A2 as Red List (low evidence)","entity_name":"SLC1A2","entity_type":"gene"},{"created":"2022-01-28T18:20:07.731714+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2894","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc1a2 has been classified as Red List (Low Evidence).","entity_name":"SLC1A2","entity_type":"gene"},{"created":"2022-01-28T18:19:54.365562+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2893","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLC1A2: Changed rating: RED","entity_name":"SLC1A2","entity_type":"gene"},{"created":"2022-01-28T18:19:47.049919+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2893","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Four unrelated individuals reported. \nSources: Expert list; to: Four unrelated individuals reported. Post-natal presentation.\r\nSources: Expert list","entity_name":"SLC1A2","entity_type":"gene"},{"created":"2022-01-28T17:59:14.944585+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2893","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC18A3 as ready","entity_name":"SLC18A3","entity_type":"gene"},{"created":"2022-01-28T17:59:14.932905+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2893","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc18a3 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC18A3","entity_type":"gene"},{"created":"2022-01-28T17:59:10.645503+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2893","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC18A3 were set to 31059209","entity_name":"SLC18A3","entity_type":"gene"},{"created":"2022-01-28T17:29:29.046930+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2892","user_name":"Krithika Murali","item_type":"entity","text":"gene: UROS was added\ngene: UROS was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UROS were set to 34187847; 34828434; 15065102\nPhenotypes for gene: UROS were set to Porphyria, congenital erythropoietic - MIM#263700; hydrops fetalis; multiple congenital anomalies\nReview for gene: UROS was set to GREEN\nAdded comment: Biallelic variants associated with congenital erytropoietic porphyria (CEP).\r\n\r\nPMID 34187847 Khalouaoui A et al 2021 report one infant with CEP secondary to homozygous UROS variants. Prenatal ultrasound at 25 weeks of gestation revealed an increased nuchal translucency and myocardial hypertrophy.\r\n\r\nPMID: 34828434 Arnaud et al 2021 - report one fetus miscarried in the 2nd trimester with 22 weeks ultrasound showing hyperechogenic small intestine with short femurs. Subsequent pregnancy MTOP after antenatal USS showed hygroma coli, ascites, short femurs, double outlet right ventricle.  Genomic sequencing on stored fetal DNA samples confirmed homozygous UROS p.Cys73Arg variants in both fetuses.\r\n\r\nPMID 15065102 Lazebnik et al 2004 reported the prenatal findings of two siblings with CEP secondary to homozygous pathogenic C73R variants.  1st child - USS at 17.5 weeks gestation showed increased nuchal thickness (9.7mm) with mild ascites, pericardial effusion, and skin oedema which persisted on subsequent scans.  2nd child - 16 week USS showed increased nuchal thickness (8.7mm) with scalp oedema, ascites, pericardial effusion, skin oedema and hepatomegaly.\r\n\r\nOther cases with antenatal features, particularly non-immune hydrops, secondary to suspected CEP reported but not confirmed molecularly. \nSources: Literature","entity_name":"UROS","entity_type":"gene"},{"created":"2022-01-28T16:48:36.226053+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2892","user_name":"Krithika Murali","item_type":"entity","text":"gene: MVK was added\ngene: MVK was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MVK were set to 27012807; 16722536\nPhenotypes for gene: MVK were set to Mevalonic aciduria-#610377; Hyper-IgD syndrome - #260920\nReview for gene: MVK was set to GREEN\nAdded comment: Biallelic MVK variants associated with mevalonate kinate deficiencies - an overlapping spectrum of phenotypes includes mevalonic aciduria (MVA) on the severe end and hyper-IgD syndrome (HIDS) generally having a less severe clinical course and later diagnosis.\r\n\r\nFetal manifestations of MVA reported include microcephaly and hydrops fetalis. \nSources: Literature","entity_name":"MVK","entity_type":"gene"},{"created":"2022-01-28T16:04:34.437173+11:00","panel_name":"Oligodontia","panel_id":148,"panel_version":"0.11","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: SMOC2 as Green List (high evidence)","entity_name":"SMOC2","entity_type":"gene"},{"created":"2022-01-28T16:04:34.425796+11:00","panel_name":"Oligodontia","panel_id":148,"panel_version":"0.11","user_name":"Chirag Patel","item_type":"entity","text":"Gene: smoc2 has been classified as Green List (High Evidence).","entity_name":"SMOC2","entity_type":"gene"},{"created":"2022-01-28T16:04:19.259424+11:00","panel_name":"Oligodontia","panel_id":148,"panel_version":"0.11","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: SMOC2 as Green List (high evidence)","entity_name":"SMOC2","entity_type":"gene"},{"created":"2022-01-28T16:04:19.248251+11:00","panel_name":"Oligodontia","panel_id":148,"panel_version":"0.11","user_name":"Chirag Patel","item_type":"entity","text":"Gene: smoc2 has been classified as Green List (High Evidence).","entity_name":"SMOC2","entity_type":"gene"},{"created":"2022-01-28T15:58:02.508530+11:00","panel_name":"Oligodontia","panel_id":148,"panel_version":"0.10","user_name":"Chirag Patel","item_type":"entity","text":"gene: SMOC2 was added\ngene: SMOC2 was added to Oligodontia. Sources: Literature\nMode of inheritance for gene: SMOC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SMOC2 were set to PMID: 22152679, 23317772, 32908163\nPhenotypes for gene: SMOC2 were set to Dentin dysplasia, type I, with microdontia and misshapen teeth, MIM# 125400\nReview for gene: SMOC2 was set to GREEN\nAdded comment: Three unrelated families reported with oligodontia, microdontia, tooth root deficiencies, alveolar bone hypoplasia, and a range of skeletal malformations. Mouse model: germline Smoc2 homozygous mutants are viable, but have tooth number anomalies, reduced tooth size, altered enamel prism patterning, and spontaneous age-induced periodontal bone and root loss. \nSources: Literature","entity_name":"SMOC2","entity_type":"gene"}]}