{"count":220725,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=140","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=138","results":[{"created":"2025-10-30T15:33:23.955646+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.371","user_name":"Chirag Patel","item_type":"entity","text":"Gene: lmna has been classified as Amber List (Moderate Evidence).","entity_name":"LMNA","entity_type":"gene"},{"created":"2025-10-30T15:33:17.685907+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.370","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: LMNA: Rating: AMBER; Mode of pathogenicity: None; Publications: 19283854; Phenotypes: Dilated cardiomyopathy 1A, MONDO:0007269, Primary ovarian failure, MONDO:0005387; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"LMNA","entity_type":"gene"},{"created":"2025-10-30T15:32:05.145933+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.404","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC31A1 were set to PMID: 35913762; 36562171; 41040850","entity_name":"SLC31A1","entity_type":"gene"},{"created":"2025-10-30T15:31:29.132185+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.403","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC31A1 were set to PMID: 35913762; 36562171; 41040850","entity_name":"SLC31A1","entity_type":"gene"},{"created":"2025-10-30T15:30:54.043577+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.403","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC31A1 were set to PMID: 35913762; 36562171; 41040850","entity_name":"SLC31A1","entity_type":"gene"},{"created":"2025-10-30T15:30:15.693019+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.402","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC31A1 were set to PMID: 35913762; 36562171","entity_name":"SLC31A1","entity_type":"gene"},{"created":"2025-10-30T15:29:28.731990+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.401","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC31A1 as Green List (high evidence)","entity_name":"SLC31A1","entity_type":"gene"},{"created":"2025-10-30T15:29:28.724840+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.401","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc31a1 has been classified as Green List (High Evidence).","entity_name":"SLC31A1","entity_type":"gene"},{"created":"2025-10-30T15:28:49.492696+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.400","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC31A1 as Green List (high evidence)","entity_name":"SLC31A1","entity_type":"gene"},{"created":"2025-10-30T15:28:49.482812+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.400","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc31a1 has been classified as Green List (High Evidence).","entity_name":"SLC31A1","entity_type":"gene"},{"created":"2025-10-30T15:28:00.533866+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.594","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC31A1 were set to 35913762; 36562171; 41040850","entity_name":"SLC31A1","entity_type":"gene"},{"created":"2025-10-30T15:27:24.549432+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.594","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC31A1 were set to 35913762; 36562171","entity_name":"SLC31A1","entity_type":"gene"},{"created":"2025-10-30T15:26:32.449601+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.593","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC31A1 as Green List (high evidence)","entity_name":"SLC31A1","entity_type":"gene"},{"created":"2025-10-30T15:26:32.439175+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.593","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc31a1 has been classified as Green List (High Evidence).","entity_name":"SLC31A1","entity_type":"gene"},{"created":"2025-10-30T15:25:51.395623+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.592","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC31A1 as Green List (high evidence)","entity_name":"SLC31A1","entity_type":"gene"},{"created":"2025-10-30T15:25:51.388181+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.592","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc31a1 has been classified as Green List (High Evidence).","entity_name":"SLC31A1","entity_type":"gene"},{"created":"2025-10-30T15:25:40.164907+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.265","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC31A1 were set to PMID: 35913762; 36562171; 41040850","entity_name":"SLC31A1","entity_type":"gene"},{"created":"2025-10-30T15:25:11.919505+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.370","user_name":"Chirag Patel","item_type":"entity","text":"changed review comment from: POI was described in one family only; to: POI was described in only one family with 3 affected females (27486781)","entity_name":"RCBTB1","entity_type":"gene"},{"created":"2025-10-30T15:24:50.882584+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.265","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC31A1 were set to PMID: 35913762; 36562171","entity_name":"SLC31A1","entity_type":"gene"},{"created":"2025-10-30T15:24:37.756495+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.370","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: RCBTB1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"RCBTB1","entity_type":"gene"},{"created":"2025-10-30T15:24:17.090494+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.370","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: RCBTB1 as Red List (low evidence)","entity_name":"RCBTB1","entity_type":"gene"},{"created":"2025-10-30T15:24:17.082149+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.370","user_name":"Chirag Patel","item_type":"entity","text":"Gene: rcbtb1 has been classified as Red List (Low Evidence).","entity_name":"RCBTB1","entity_type":"gene"},{"created":"2025-10-30T15:24:07.344274+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.264","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC31A1 as Green List (high evidence)","entity_name":"SLC31A1","entity_type":"gene"},{"created":"2025-10-30T15:24:07.322859+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.264","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc31a1 has been classified as Green List (High Evidence).","entity_name":"SLC31A1","entity_type":"gene"},{"created":"2025-10-30T15:23:17.464552+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.369","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene RCBTB1 from panel Retinitis pigmentosa_Autosomal Recessive/X-linked","entity_name":null,"entity_type":null},{"created":"2025-10-30T15:23:17.392416+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.369","user_name":"Chirag Patel","item_type":"entity","text":"gene: RCBTB1 was added\ngene: RCBTB1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: RCBTB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RCBTB1 were set to 27486781\nPhenotypes for gene: RCBTB1 were set to Retinal dystrophy with or without extraocular anomalies MIM#617175","entity_name":"RCBTB1","entity_type":"gene"},{"created":"2025-10-30T15:23:10.854236+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.264","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC31A1 as Green List (high evidence)","entity_name":"SLC31A1","entity_type":"gene"},{"created":"2025-10-30T15:23:10.834945+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.264","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc31a1 has been classified as Green List (High Evidence).","entity_name":"SLC31A1","entity_type":"gene"},{"created":"2025-10-30T15:22:09.902124+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.356","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC31A1 as ready","entity_name":"SLC31A1","entity_type":"gene"},{"created":"2025-10-30T15:22:09.879215+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.356","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc31a1 has been classified as Green List (High Evidence).","entity_name":"SLC31A1","entity_type":"gene"},{"created":"2025-10-30T15:22:09.850489+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.357","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC31A1 were set to PMID: 35913762; 36562171; 41040850","entity_name":"SLC31A1","entity_type":"gene"},{"created":"2025-10-30T15:21:27.944341+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.356","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC31A1 were set to PMID: 35913762; 36562171","entity_name":"SLC31A1","entity_type":"gene"},{"created":"2025-10-30T15:20:44.459089+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.355","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC31A1 as Green List (high evidence)","entity_name":"SLC31A1","entity_type":"gene"},{"created":"2025-10-30T15:20:44.451920+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.355","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc31a1 has been classified as Green List (High Evidence).","entity_name":"SLC31A1","entity_type":"gene"},{"created":"2025-10-30T15:20:06.544339+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.354","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC31A1 as Green List (high evidence)","entity_name":"SLC31A1","entity_type":"gene"},{"created":"2025-10-30T15:20:06.537028+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.354","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc31a1 has been classified as Green List (High Evidence).","entity_name":"SLC31A1","entity_type":"gene"},{"created":"2025-10-30T15:18:07.548986+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3502","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PPIB were set to 19781681; 32392875","entity_name":"PPIB","entity_type":"gene"},{"created":"2025-10-30T15:17:49.184274+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3501","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PPIB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PPIB","entity_type":"gene"},{"created":"2025-10-30T15:17:30.520550+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3500","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PPIB: Changed publications: 19781681, 32392875, 41045073; Changed phenotypes: Osteogenesis imperfecta, type IX, MIM# 259440, Optic atrophy (MONDO:0003608), PPIB-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PPIB","entity_type":"gene"},{"created":"2025-10-30T15:16:18.702154+11:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.54","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: PPIB.","entity_name":"PPIB","entity_type":"gene"},{"created":"2025-10-30T15:15:39.296333+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.368","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: RECQL4 as Green List (high evidence)","entity_name":"RECQL4","entity_type":"gene"},{"created":"2025-10-30T15:15:39.288469+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.368","user_name":"Chirag Patel","item_type":"entity","text":"Gene: recql4 has been classified as Green List (High Evidence).","entity_name":"RECQL4","entity_type":"gene"},{"created":"2025-10-30T15:15:34.490190+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.367","user_name":"Chirag Patel","item_type":"entity","text":"gene: RECQL4 was added\ngene: RECQL4 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genomics England PanelApp\nMode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RECQL4 were set to 20301415, 10319867, 3138154\nPhenotypes for gene: RECQL4 were set to Rothmund-Thomson syndrome, MONDO:0010002\nReview for gene: RECQL4 was set to GREEN\nAdded comment: ClinGen definitive for Rothmund-Thomson syndrome (RTS).\r\nPOI can be a feature of RTS. \nSources: Genomics England PanelApp","entity_name":"RECQL4","entity_type":"gene"},{"created":"2025-10-30T15:15:33.540949+11:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.54","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PPIB as ready","entity_name":"PPIB","entity_type":"gene"},{"created":"2025-10-30T15:15:33.533113+11:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.54","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppib has been classified as Amber List (Moderate Evidence).","entity_name":"PPIB","entity_type":"gene"},{"created":"2025-10-30T15:12:24.535770+11:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.54","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PPIB as Amber List (moderate evidence)","entity_name":"PPIB","entity_type":"gene"},{"created":"2025-10-30T15:12:24.527314+11:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.54","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppib has been classified as Amber List (Moderate Evidence).","entity_name":"PPIB","entity_type":"gene"},{"created":"2025-10-30T15:11:48.985758+11:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.53","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PPIB as Amber List (moderate evidence)","entity_name":"PPIB","entity_type":"gene"},{"created":"2025-10-30T15:11:48.962090+11:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.53","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppib has been classified as Amber List (Moderate Evidence).","entity_name":"PPIB","entity_type":"gene"},{"created":"2025-10-30T15:11:03.387544+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.591","user_name":"Sarah Milton","item_type":"panel","text":"Copied gene SLC27A3 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-10-30T15:11:03.212743+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.591","user_name":"Sarah Milton","item_type":"entity","text":"gene: SLC27A3 was added\ngene: SLC27A3 was added to Regression. Sources: Literature\nMode of inheritance for gene: SLC27A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC27A3 were set to PMID: 41054338\nPhenotypes for gene: SLC27A3 were set to Inherited neurodegenerative disorder, MONDO:0024237, SLC27A3-related","entity_name":"SLC27A3","entity_type":"gene"},{"created":"2025-10-30T15:10:24.234387+11:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.53","user_name":"Sarah Milton","item_type":"panel","text":"Copied gene SLC27A3 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-10-30T15:10:24.066856+11:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.53","user_name":"Sarah Milton","item_type":"entity","text":"gene: SLC27A3 was added\ngene: SLC27A3 was added to Optic Atrophy. Sources: Literature\nMode of inheritance for gene: SLC27A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC27A3 were set to PMID: 41054338\nPhenotypes for gene: SLC27A3 were set to Inherited neurodegenerative disorder, MONDO:0024237, SLC27A3-related","entity_name":"SLC27A3","entity_type":"gene"},{"created":"2025-10-30T15:09:44.192782+11:00","panel_name":"Neurodegeneration with brain iron accumulation","panel_id":3438,"panel_version":"1.2","user_name":"Sarah Milton","item_type":"panel","text":"Copied gene SLC27A3 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-10-30T15:09:44.109605+11:00","panel_name":"Neurodegeneration with brain iron accumulation","panel_id":3438,"panel_version":"1.2","user_name":"Sarah Milton","item_type":"entity","text":"gene: SLC27A3 was added\ngene: SLC27A3 was added to Neurodegeneration with brain iron accumulation. Sources: Literature\nMode of inheritance for gene: SLC27A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC27A3 were set to PMID: 41054338\nPhenotypes for gene: SLC27A3 were set to Inherited neurodegenerative disorder, MONDO:0024237, SLC27A3-related","entity_name":"SLC27A3","entity_type":"gene"},{"created":"2025-10-30T15:09:33.202298+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.399","user_name":"Sarah Milton","item_type":"panel","text":"Copied gene SLC27A3 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-10-30T15:09:32.886786+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.399","user_name":"Sarah Milton","item_type":"entity","text":"gene: SLC27A3 was added\ngene: SLC27A3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SLC27A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC27A3 were set to PMID: 41054338\nPhenotypes for gene: SLC27A3 were set to Inherited neurodegenerative disorder, MONDO:0024237, SLC27A3-related","entity_name":"SLC27A3","entity_type":"gene"},{"created":"2025-10-30T15:08:54.453406+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.59","user_name":"Sarah Milton","item_type":"panel","text":"Copied gene SLC27A3 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-10-30T15:08:54.310434+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.59","user_name":"Sarah Milton","item_type":"entity","text":"gene: SLC27A3 was added\ngene: SLC27A3 was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: SLC27A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC27A3 were set to PMID: 41054338\nPhenotypes for gene: SLC27A3 were set to Inherited neurodegenerative disorder, MONDO:0024237, SLC27A3-related","entity_name":"SLC27A3","entity_type":"gene"},{"created":"2025-10-30T15:07:42.265381+11:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.52","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PPIB as Red List (low evidence)","entity_name":"PPIB","entity_type":"gene"},{"created":"2025-10-30T15:07:42.257233+11:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.52","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppib has been classified as Red List (Low Evidence).","entity_name":"PPIB","entity_type":"gene"},{"created":"2025-10-30T15:07:32.606513+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3500","user_name":"Sarah Milton","item_type":"entity","text":"gene: SLC27A3 was added\ngene: SLC27A3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SLC27A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC27A3 were set to PMID: 41054338\nPhenotypes for gene: SLC27A3 were set to Inherited neurodegenerative disorder, MONDO:0024237, SLC27A3-related\nReview for gene: SLC27A3 was set to RED\nAdded comment: SLC27A3 encodes for very long chain acyl CoA synthetase 3 which function to catalyse the formation of fatty acyl coA using long and very long chain fatty acids as substrates.\r\n\r\nPMID: 41054338 describes one individual with a presumed homozgous stop gain variant in SLC27A3 who presented with progressive ataxia, optic atrophy, cognitive deterioration, mood disorder and progressive cortical atrophy on MRI-B. \r\nOnset of symptoms at 18 months with significant progression from 12 years of age. \r\nDuo exome testing performed (not segregated in both parents). \r\n\r\nNo homozygous LOF variants in gnomAD v4. \r\n\r\nSome supportive functional data in paper with no protein expressed in patient cells as detected by western blot and patient's cells were found to have more neutral lipids than controls. \r\n\r\nMore literature is required to increase the robustness of this assertion. \nSources: Literature","entity_name":"SLC27A3","entity_type":"gene"},{"created":"2025-10-30T15:05:51.508742+11:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.51","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PPIB as Amber List (moderate evidence)","entity_name":"PPIB","entity_type":"gene"},{"created":"2025-10-30T15:05:51.498131+11:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.51","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppib has been classified as Amber List (Moderate Evidence).","entity_name":"PPIB","entity_type":"gene"},{"created":"2025-10-30T15:02:13.907602+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.366","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: YTHDC2 as Green List (high evidence)","entity_name":"YTHDC2","entity_type":"gene"},{"created":"2025-10-30T15:02:13.900656+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.366","user_name":"Chirag Patel","item_type":"entity","text":"Gene: ythdc2 has been classified as Green List (High Evidence).","entity_name":"YTHDC2","entity_type":"gene"},{"created":"2025-10-30T15:02:09.185854+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.365","user_name":"Chirag Patel","item_type":"entity","text":"gene: YTHDC2 was added\ngene: YTHDC2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genomics England PanelApp\nMode of inheritance for gene: YTHDC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: YTHDC2 were set to 29033321, 29360036, 35138268\nPhenotypes for gene: YTHDC2 were set to Primary ovarian failure, MONDO:0005387\nReview for gene: YTHDC2 was set to GREEN\nAdded comment: 2 different homozygous variants in YTHDC2 gene in 3 women from 2 families with early-onset POI (c. 2567C>G, p.P856R; c.1129G>T, p.E377*). They demonstrated that YTHDC2 is expressed in the developing human fetal ovary and is upregulated in meiotic germ cells, together with related meiosis-associated factors. The p.P856R variant resulted in a less flexible protein that likely disrupted downstream conformational kinetics of the HA2 domain, whereas the p.E377* variant truncated the helicase core. \r\n\r\nYthdc2, an RNA helicase and N6-methyladenosine reader, has been shown to be a regulator of meiosis in mice. \nSources: Genomics England PanelApp","entity_name":"YTHDC2","entity_type":"gene"},{"created":"2025-10-30T14:57:13.556784+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.364","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ZSWIM7 as Green List (high evidence)","entity_name":"ZSWIM7","entity_type":"gene"},{"created":"2025-10-30T14:57:13.549445+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.364","user_name":"Chirag Patel","item_type":"entity","text":"Gene: zswim7 has been classified as Green List (High Evidence).","entity_name":"ZSWIM7","entity_type":"gene"},{"created":"2025-10-30T14:57:07.755921+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.363","user_name":"Chirag Patel","item_type":"entity","text":"gene: ZSWIM7 was added\ngene: ZSWIM7 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: ZSWIM7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZSWIM7 were set to 40991243, 34402903\nPhenotypes for gene: ZSWIM7 were set to Primary ovarian failure, MONDO:0005387\nReview for gene: ZSWIM7 was set to GREEN\nAdded comment: PMID: 40991243\r\nFour french individuals with a diagnosis of premature ovarian insufficiency (POI) identified with variants in ZSWIM7\r\n\r\nPatient 1: Homozygous deletion c.231_232del\r\nPatient 2: Compound het c.231_232del;c.22del (p.Val8LeufsTer6)\r\nPatient 3: Compound het c.231_232del; c.151C>T (NFE AF 0.002%)\r\nPaitent 4: Homozygous c.176C>T p.(Arg51Ter)\r\n\r\nPMID: 40991243\r\nTwo sisters from a consanguineous pedigree presented in adolescence with absent puberty and primary amenorrhea\r\nBoth sisters homozygous for c.173G>C and unaffected mother heterozygous for the variant \nSources: Literature","entity_name":"ZSWIM7","entity_type":"gene"},{"created":"2025-10-30T14:54:18.222148+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.49","user_name":"Chirag Patel","item_type":"entity","text":"Publications for gene ZSWIM7 were changed from 32719396, 33713115, 40991243, 34402903 to 32719396, 33713115, 40991243, 34402903","entity_name":"ZSWIM7","entity_type":"gene"},{"created":"2025-10-30T14:44:30.914914+11:00","panel_name":"Hypophosphataemia or rickets","panel_id":122,"panel_version":"0.43","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene SLC9A3R1 from panel Calcium and Phosphate disorders","entity_name":null,"entity_type":null},{"created":"2025-10-30T14:44:30.794386+11:00","panel_name":"Hypophosphataemia or rickets","panel_id":122,"panel_version":"0.43","user_name":"Chirag Patel","item_type":"entity","text":"gene: SLC9A3R1 was added\ngene: SLC9A3R1 was added to Hypophosphataemia or rickets. Sources: Expert Review Red,KidGen_CalcPhos v38.1.0\nMode of inheritance for gene: SLC9A3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLC9A3R1 were set to 18784102\nPhenotypes for gene: SLC9A3R1 were set to Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287","entity_name":"SLC9A3R1","entity_type":"gene"},{"created":"2025-10-30T13:59:30.273410+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3499","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC31A1 as Green List (high evidence)","entity_name":"SLC31A1","entity_type":"gene"},{"created":"2025-10-30T13:59:30.263027+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3499","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc31a1 has been classified as Green List (High Evidence).","entity_name":"SLC31A1","entity_type":"gene"},{"created":"2025-10-30T13:51:33.624224+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.465","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: TMEM17 as Green List (high evidence)","entity_name":"TMEM17","entity_type":"gene"},{"created":"2025-10-30T13:51:33.613641+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.465","user_name":"Chirag Patel","item_type":"entity","text":"Gene: tmem17 has been classified as Green List (High Evidence).","entity_name":"TMEM17","entity_type":"gene"},{"created":"2025-10-30T13:51:06.856105+11:00","panel_name":"Complement Deficiencies","panel_id":224,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FCN3 as Red List (low evidence)","entity_name":"FCN3","entity_type":"gene"},{"created":"2025-10-30T13:51:06.842123+11:00","panel_name":"Complement Deficiencies","panel_id":224,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fcn3 has been classified as Red List (Low Evidence).","entity_name":"FCN3","entity_type":"gene"},{"created":"2025-10-30T13:50:29.314119+11:00","panel_name":"Complement Deficiencies","panel_id":224,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FCN3 as Red List (low evidence)","entity_name":"FCN3","entity_type":"gene"},{"created":"2025-10-30T13:50:29.302989+11:00","panel_name":"Complement Deficiencies","panel_id":224,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fcn3 has been classified as Red List (Low Evidence).","entity_name":"FCN3","entity_type":"gene"},{"created":"2025-10-30T13:50:27.313062+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.94","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: TMEM17 were changed from Meckel syndrome MONDO:0018921; TMEM17-related to Meckel syndrome MONDO:0018921, TMEM17-related","entity_name":"TMEM17","entity_type":"gene"},{"created":"2025-10-30T13:50:21.680569+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.45","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: TMEM17 were changed from Meckel syndrome MONDO:0018921; TMEM17-related to Meckel syndrome MONDO:0018921, TMEM17-related","entity_name":"TMEM17","entity_type":"gene"},{"created":"2025-10-30T13:50:11.199875+11:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.296","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: TMEM17 were changed from Meckel syndrome MONDO:0018921; TMEM17-related to Meckel syndrome MONDO:0018921, TMEM17-related","entity_name":"TMEM17","entity_type":"gene"},{"created":"2025-10-30T13:49:46.539227+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.464","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: TMEM17 were changed from Meckel syndrome MONDO:0018921; TMEM17-related to Meckel syndrome MONDO:0018921, TMEM17-related","entity_name":"TMEM17","entity_type":"gene"},{"created":"2025-10-30T13:49:30.025337+11:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.296","user_name":"Chirag Patel","item_type":"entity","text":"Publications for gene TMEM17 were changed from 41054827, 40841990 to 41054827, 40841990","entity_name":"TMEM17","entity_type":"gene"},{"created":"2025-10-30T13:49:25.192427+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3498","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: TMEM17 were changed from Meckel syndrome MONDO:0018921; TMEM17-related to Meckel syndrome MONDO:0018921, TMEM17-related","entity_name":"TMEM17","entity_type":"gene"},{"created":"2025-10-30T13:49:15.697745+11:00","panel_name":"Complement Deficiencies","panel_id":224,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FCN3: Added comment: Same hmz variant in all reported cases, some discussion in the literature about whether this is a genuine gene-disease association, downgrade to Red.; Changed rating: RED","entity_name":"FCN3","entity_type":"gene"},{"created":"2025-10-30T13:48:36.172319+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3497","user_name":"Chirag Patel","item_type":"entity","text":"Publications for gene TMEM17 were changed from 41054827, 40841990 to 41054827, 40841990","entity_name":"TMEM17","entity_type":"gene"},{"created":"2025-10-30T13:48:32.712617+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.44","user_name":"Chirag Patel","item_type":"entity","text":"Publications for gene TMEM17 were changed from 41054827, 40841990 to 41054827, 40841990","entity_name":"TMEM17","entity_type":"gene"},{"created":"2025-10-30T13:48:19.676741+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.398","user_name":"Rylee Peters","item_type":"entity","text":"reviewed gene: OTUD7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29395075, 31997314, 33381903, 36180924, 41028987; Phenotypes: Neurodevelopmental disorder with hypotonia and seizures (MIM#620790), AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"OTUD7A","entity_type":"gene"},{"created":"2025-10-30T13:48:00.849561+11:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.295","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: TMEM17 as Green List (high evidence)","entity_name":"TMEM17","entity_type":"gene"},{"created":"2025-10-30T13:48:00.840041+11:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.295","user_name":"Chirag Patel","item_type":"entity","text":"Gene: tmem17 has been classified as Green List (High Evidence).","entity_name":"TMEM17","entity_type":"gene"},{"created":"2025-10-30T13:47:53.520463+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.44","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: TMEM17 as Green List (high evidence)","entity_name":"TMEM17","entity_type":"gene"},{"created":"2025-10-30T13:47:53.510467+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.44","user_name":"Chirag Patel","item_type":"entity","text":"Gene: tmem17 has been classified as Green List (High Evidence).","entity_name":"TMEM17","entity_type":"gene"},{"created":"2025-10-30T13:47:38.240367+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.463","user_name":"Chirag Patel","item_type":"entity","text":"Publications for gene TMEM17 were changed from 41054827, 40841990 to 41054827, 40841990","entity_name":"TMEM17","entity_type":"gene"},{"created":"2025-10-30T13:47:34.186465+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.263","user_name":"Rylee Peters","item_type":"entity","text":"reviewed gene: OTUD7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29395075, 31997314, 33381903, 36180924, 41028987; Phenotypes: Neurodevelopmental disorder with hypotonia and seizures (MIM#620790), AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"OTUD7A","entity_type":"gene"},{"created":"2025-10-30T13:47:32.613581+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3496","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FCN3 as Red List (low evidence)","entity_name":"FCN3","entity_type":"gene"},{"created":"2025-10-30T13:47:32.603840+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3496","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fcn3 has been classified as Red List (Low Evidence).","entity_name":"FCN3","entity_type":"gene"},{"created":"2025-10-30T13:47:21.882398+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3496","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: TMEM17 as Green List (high evidence)","entity_name":"TMEM17","entity_type":"gene"}]}