{"count":220497,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=91","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=89","results":[{"created":"2025-12-14T20:58:36.817537+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"1.45","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene MT-TC from panel Mitochondrial disease","entity_name":null,"entity_type":null},{"created":"2025-12-14T20:58:36.619541+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"1.45","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MT-TC was added\ngene: MT-TC was added to Hereditary Neuropathy - complex. Sources: Expert Review Amber,Expert list\nmtDNA tags were added to gene: MT-TC.\nMode of inheritance for gene gene: MT-TC was set to MITOCHONDRIAL\nPublications for gene: MT-TC were set to 8829635; 9185178; 17241783; 11453453; 16955414; 32169613; 36039763; 17724295; 35252560; 34433719; 30030363\nPhenotypes for gene: MT-TC were set to Mitochondrial disease (MONDO:0044970), MT-TC-related","entity_name":"MT-TC","entity_type":"gene"},{"created":"2025-12-14T20:58:20.647788+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.307","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene MT-TC from panel Mitochondrial disease","entity_name":null,"entity_type":null},{"created":"2025-12-14T20:58:20.344277+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.307","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MT-TC was added\ngene: MT-TC was added to Genetic Epilepsy. Sources: Expert Review Amber,Expert list\nmtDNA tags were added to gene: MT-TC.\nMode of inheritance for gene gene: MT-TC was set to MITOCHONDRIAL\nPublications for gene: MT-TC were set to 8829635; 9185178; 17241783; 11453453; 16955414; 32169613; 36039763; 17724295; 35252560; 34433719; 30030363\nPhenotypes for gene: MT-TC were set to Mitochondrial disease (MONDO:0044970), MT-TC-related","entity_name":"MT-TC","entity_type":"gene"},{"created":"2025-12-14T20:57:29.788625+11:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.290","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene MT-TC from panel Mitochondrial disease","entity_name":null,"entity_type":null},{"created":"2025-12-14T20:57:29.617621+11:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.290","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MT-TC was added\ngene: MT-TC was added to Dystonia - complex. Sources: Expert Review Amber,Expert list\nmtDNA tags were added to gene: MT-TC.\nMode of inheritance for gene gene: MT-TC was set to MITOCHONDRIAL\nPublications for gene: MT-TC were set to 8829635; 9185178; 17241783; 11453453; 16955414; 32169613; 36039763; 17724295; 35252560; 34433719; 30030363\nPhenotypes for gene: MT-TC were set to Mitochondrial disease (MONDO:0044970), MT-TC-related","entity_name":"MT-TC","entity_type":"gene"},{"created":"2025-12-14T20:57:17.372751+11:00","panel_name":"Ataxia","panel_id":271,"panel_version":"1.158","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene MT-TC from panel Mitochondrial disease","entity_name":null,"entity_type":null},{"created":"2025-12-14T20:57:17.203732+11:00","panel_name":"Ataxia","panel_id":271,"panel_version":"1.158","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MT-TC was added\ngene: MT-TC was added to Ataxia. Sources: Expert Review Amber,Expert list\nmtDNA tags were added to gene: MT-TC.\nMode of inheritance for gene gene: MT-TC was set to MITOCHONDRIAL\nPublications for gene: MT-TC were set to 8829635; 9185178; 17241783; 11453453; 16955414; 32169613; 36039763; 17724295; 35252560; 34433719; 30030363\nPhenotypes for gene: MT-TC were set to Mitochondrial disease (MONDO:0044970), MT-TC-related","entity_name":"MT-TC","entity_type":"gene"},{"created":"2025-12-14T20:55:56.875196+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.1275","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: LIMITED by ClinGen.\r\n\r\nThere were 3 scoreable probands across >10 publications from 1996-2022. Notably, while cybrid analyses were performed (PMID:36039763), one of the variants, m.5783G>A, was excluded from scoring for three reasons: 1.) the reported phenotype of isolated hearing loss was non-specific and incompletely penetrant, but also 2.) the biochemical impact in cybrids was mild - moderate, and 3.) there was reduction in expression of mitochondrial replication genes (TWNK ~30% of control in cybrids) suggesting an alternative aetiology might be responsible for the biochemical impact reported.\r\n\r\nThe gene-disease association for MT-TC is also supported by the known interaction with a multitude of other mitochondrial translation proteins (PMID:30030363) and respiratory chain studies and Northern blot analysis supporting MT-TC dysfunction leading to Complex I deficiency (PMID:35252560).; to: LIMITED by ClinGen.\r\n\r\nThere were 3 scoreable probands across >10 publications from 1996-2022. Notably, while cybrid analyses were performed (PMID:36039763), one of the variants, m.5783G>A, was excluded from scoring for three reasons: 1.) the reported phenotype of isolated hearing loss was non-specific and incompletely penetrant, but also 2.) the biochemical impact in cybrids was mild - moderate, and 3.) there was reduction in expression of mitochondrial replication genes (TWNK ~30% of control in cybrids) suggesting an alternative aetiology might be responsible for the biochemical impact reported.\r\n\r\nReported phenotypes are variable but include dystonia, neuropathy, myoclonic epilepsy, ataxia, retinitis pigmentosa, and muscle weakness.\r\n\r\nThe gene-disease association for MT-TC is also supported by the known interaction with a multitude of other mitochondrial translation proteins (PMID:30030363) and respiratory chain studies and Northern blot analysis supporting MT-TC dysfunction leading to Complex I deficiency (PMID:35252560).","entity_name":"MT-TC","entity_type":"gene"},{"created":"2025-12-14T20:54:21.761237+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MT-TA as ready","entity_name":"MT-TA","entity_type":"gene"},{"created":"2025-12-14T20:54:21.732962+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mt-ta has been classified as Green List (High Evidence).","entity_name":"MT-TA","entity_type":"gene"},{"created":"2025-12-14T20:54:10.609398+11:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"1.31","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MT-TA as ready","entity_name":"MT-TA","entity_type":"gene"},{"created":"2025-12-14T20:54:10.598787+11:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"1.31","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mt-ta has been classified as Green List (High Evidence).","entity_name":"MT-TA","entity_type":"gene"},{"created":"2025-12-14T20:53:57.632109+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.304","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MT-TA as ready","entity_name":"MT-TA","entity_type":"gene"},{"created":"2025-12-14T20:53:57.624661+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.304","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mt-ta has been classified as Green List (High Evidence).","entity_name":"MT-TA","entity_type":"gene"},{"created":"2025-12-14T20:53:19.716543+11:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"1.31","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene MT-TA from panel Mitochondrial disease","entity_name":null,"entity_type":null},{"created":"2025-12-14T20:53:19.553337+11:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"1.31","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MT-TA was added\ngene: MT-TA was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-TA.\nMode of inheritance for gene gene: MT-TA was set to MITOCHONDRIAL\nPublications for gene: MT-TA were set to 11715067; 17825557; 14569122; 27014581; 20813205; 25873012; 16476954\nPhenotypes for gene: MT-TA were set to Mitochondrial disease (MONDO:0044970), MT-TA-related","entity_name":"MT-TA","entity_type":"gene"},{"created":"2025-12-14T20:53:01.957042+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.304","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene MT-TA from panel Mitochondrial disease","entity_name":null,"entity_type":null},{"created":"2025-12-14T20:53:01.622759+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.304","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MT-TA was added\ngene: MT-TA was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-TA.\nMode of inheritance for gene gene: MT-TA was set to MITOCHONDRIAL\nPublications for gene: MT-TA were set to 11715067; 17825557; 14569122; 27014581; 20813205; 25873012; 16476954\nPhenotypes for gene: MT-TA were set to Mitochondrial disease (MONDO:0044970), MT-TA-related","entity_name":"MT-TA","entity_type":"gene"},{"created":"2025-12-14T20:52:23.692968+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene MT-TA from panel Mitochondrial disease","entity_name":null,"entity_type":null},{"created":"2025-12-14T20:52:23.651367+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MT-TA was added\ngene: MT-TA was added to Congenital ophthalmoplegia. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-TA.\nMode of inheritance for gene gene: MT-TA was set to MITOCHONDRIAL\nPublications for gene: MT-TA were set to 11715067; 17825557; 14569122; 27014581; 20813205; 25873012; 16476954\nPhenotypes for gene: MT-TA were set to Mitochondrial disease (MONDO:0044970), MT-TA-related","entity_name":"MT-TA","entity_type":"gene"},{"created":"2025-12-14T20:51:28.977257+11:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"1.30","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MT-RNR2 as ready","entity_name":"MT-RNR2","entity_type":"gene"},{"created":"2025-12-14T20:51:28.970582+11:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"1.30","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mt-rnr2 has been classified as Red List (Low Evidence).","entity_name":"MT-RNR2","entity_type":"gene"},{"created":"2025-12-14T20:51:15.685316+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3793","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MT-RNR2 as ready","entity_name":"MT-RNR2","entity_type":"gene"},{"created":"2025-12-14T20:51:15.674996+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3793","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mt-rnr2 has been classified as Red List (Low Evidence).","entity_name":"MT-RNR2","entity_type":"gene"},{"created":"2025-12-14T20:51:00.637077+11:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"1.30","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene MT-RNR2 from panel Mitochondrial disease","entity_name":null,"entity_type":null},{"created":"2025-12-14T20:51:00.471869+11:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"1.30","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MT-RNR2 was added\ngene: MT-RNR2 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert Review Red,Literature,Expert Review\nMode of inheritance for gene gene: MT-RNR2 was set to MITOCHONDRIAL\nPublications for gene: MT-RNR2 were set to 29233888; 17761147; 24367055\nPhenotypes for gene: MT-RNR2 were set to mitochondrial disease MONDO:0044970, MT-RNR2-related","entity_name":"MT-RNR2","entity_type":"gene"},{"created":"2025-12-14T20:50:43.754575+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3793","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene MT-RNR2 from panel Mitochondrial disease","entity_name":null,"entity_type":null},{"created":"2025-12-14T20:50:42.492500+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3793","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MT-RNR2 was added\ngene: MT-RNR2 was added to Mendeliome. Sources: Expert Review Red,Literature,Expert Review\nMode of inheritance for gene gene: MT-RNR2 was set to MITOCHONDRIAL\nPublications for gene: MT-RNR2 were set to 29233888; 17761147; 24367055\nPhenotypes for gene: MT-RNR2 were set to mitochondrial disease MONDO:0044970, MT-RNR2-related","entity_name":"MT-RNR2","entity_type":"gene"},{"created":"2025-12-14T20:50:12.056581+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.1275","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MT-RNR2 were changed from  to mitochondrial disease MONDO:0044970, MT-RNR2-related","entity_name":"MT-RNR2","entity_type":"gene"},{"created":"2025-12-14T20:49:45.256223+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.1274","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MT-RNR2 were set to 29233888","entity_name":"MT-RNR2","entity_type":"gene"},{"created":"2025-12-14T20:49:03.179784+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.1273","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MT-RNR2: Rating: RED; Mode of pathogenicity: None; Publications: 17761147, 24367055; Phenotypes: mitochondrial disease MONDO:0044970, MT-RNR2-related; Mode of inheritance: MITOCHONDRIAL","entity_name":"MT-RNR2","entity_type":"gene"},{"created":"2025-12-14T20:47:05.805875+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.303","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MT-RNR1 as ready","entity_name":"MT-RNR1","entity_type":"gene"},{"created":"2025-12-14T20:47:05.798889+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.303","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mt-rnr1 has been classified as Green List (High Evidence).","entity_name":"MT-RNR1","entity_type":"gene"},{"created":"2025-12-14T20:47:00.178403+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.303","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"MT-RNR1","entity_type":"gene"},{"created":"2025-12-14T20:46:41.564079+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.303","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene MT-RNR1 from panel Mitochondrial disease","entity_name":null,"entity_type":null},{"created":"2025-12-14T20:46:41.342248+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.303","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MT-RNR1 was added\ngene: MT-RNR1 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-RNR1.\nMode of inheritance for gene gene: MT-RNR1 was set to MITOCHONDRIAL\nPublications for gene: MT-RNR1 were set to 20301595; 7698299; 16380089; 12920080; 24252789; 9490575; 8285309; 9040738; 7689389\nPhenotypes for gene: MT-RNR1 were set to Mitochondrial disease (MONDO:0044970), MT-RNR1-related","entity_name":"MT-RNR1","entity_type":"gene"},{"created":"2025-12-14T20:45:13.264974+11:00","panel_name":"Stroke","panel_id":3141,"panel_version":"1.38","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MT-ND6 as ready","entity_name":"MT-ND6","entity_type":"gene"},{"created":"2025-12-14T20:45:13.254089+11:00","panel_name":"Stroke","panel_id":3141,"panel_version":"1.38","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mt-nd6 has been classified as Green List (High Evidence).","entity_name":"MT-ND6","entity_type":"gene"},{"created":"2025-12-14T20:45:00.757840+11:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.64","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MT-ND6 as ready","entity_name":"MT-ND6","entity_type":"gene"},{"created":"2025-12-14T20:45:00.746848+11:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.64","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mt-nd6 has been classified as Green List (High Evidence).","entity_name":"MT-ND6","entity_type":"gene"},{"created":"2025-12-14T20:44:49.384362+11:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"2.44","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MT-ND6 as ready","entity_name":"MT-ND6","entity_type":"gene"},{"created":"2025-12-14T20:44:49.372828+11:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"2.44","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mt-nd6 has been classified as Red List (Low Evidence).","entity_name":"MT-ND6","entity_type":"gene"},{"created":"2025-12-14T20:44:45.953619+11:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"2.44","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MT-ND6 as Red List (low evidence)","entity_name":"MT-ND6","entity_type":"gene"},{"created":"2025-12-14T20:44:45.946219+11:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"2.44","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mt-nd6 has been classified as Red List (Low Evidence).","entity_name":"MT-ND6","entity_type":"gene"},{"created":"2025-12-14T20:44:17.236769+11:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"2.43","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MT-ND6: Changed rating: RED","entity_name":"MT-ND6","entity_type":"gene"},{"created":"2025-12-14T20:43:48.975449+11:00","panel_name":"Stroke","panel_id":3141,"panel_version":"1.38","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene MT-ND6 from panel Mitochondrial disease","entity_name":null,"entity_type":null},{"created":"2025-12-14T20:43:48.902048+11:00","panel_name":"Stroke","panel_id":3141,"panel_version":"1.38","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MT-ND6 was added\ngene: MT-ND6 was added to Stroke. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-ND6.\nMode of inheritance for gene gene: MT-ND6 was set to MITOCHONDRIAL\nPublications for gene: MT-ND6 were set to 5576045; 20019223; 21196529; 10894222; 14684687; 17535832; 19103152; 21749722; 23813926; 25356405; 14595656; 19062322; 11133798; 30741831; 21364701; 2018041\nPhenotypes for gene: MT-ND6 were set to Mitochondrial disease (MONDO:0044970), MT-ND6-related","entity_name":"MT-ND6","entity_type":"gene"},{"created":"2025-12-14T20:43:48.728079+11:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.64","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene MT-ND6 from panel Mitochondrial disease","entity_name":null,"entity_type":null},{"created":"2025-12-14T20:43:48.556266+11:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.64","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MT-ND6 was added\ngene: MT-ND6 was added to Optic Atrophy. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-ND6.\nMode of inheritance for gene gene: MT-ND6 was set to MITOCHONDRIAL\nPublications for gene: MT-ND6 were set to 5576045; 20019223; 21196529; 10894222; 14684687; 17535832; 19103152; 21749722; 23813926; 25356405; 14595656; 19062322; 11133798; 30741831; 21364701; 2018041\nPhenotypes for gene: MT-ND6 were set to Mitochondrial disease (MONDO:0044970), MT-ND6-related","entity_name":"MT-ND6","entity_type":"gene"},{"created":"2025-12-14T20:43:30.814204+11:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"2.43","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MT-ND6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"MT-ND6","entity_type":"gene"},{"created":"2025-12-14T20:41:51.979122+11:00","panel_name":"Stroke","panel_id":3141,"panel_version":"1.37","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MT-ND5 as ready","entity_name":"MT-ND5","entity_type":"gene"},{"created":"2025-12-14T20:41:51.971925+11:00","panel_name":"Stroke","panel_id":3141,"panel_version":"1.37","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mt-nd5 has been classified as Green List (High Evidence).","entity_name":"MT-ND5","entity_type":"gene"},{"created":"2025-12-14T20:41:41.496415+11:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"1.29","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MT-ND5 as ready","entity_name":"MT-ND5","entity_type":"gene"},{"created":"2025-12-14T20:41:41.487145+11:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"1.29","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mt-nd5 has been classified as Green List (High Evidence).","entity_name":"MT-ND5","entity_type":"gene"},{"created":"2025-12-14T20:41:28.746492+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.306","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MT-ND5 as ready","entity_name":"MT-ND5","entity_type":"gene"},{"created":"2025-12-14T20:41:28.736108+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.306","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mt-nd5 has been classified as Green List (High Evidence).","entity_name":"MT-ND5","entity_type":"gene"},{"created":"2025-12-14T20:41:18.007816+11:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.63","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MT-ND5 as ready","entity_name":"MT-ND5","entity_type":"gene"},{"created":"2025-12-14T20:41:17.996173+11:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.63","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mt-nd5 has been classified as Green List (High Evidence).","entity_name":"MT-ND5","entity_type":"gene"},{"created":"2025-12-14T20:35:52.132815+11:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"1.29","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene MT-ND5 from panel Mitochondrial disease","entity_name":null,"entity_type":null},{"created":"2025-12-14T20:35:51.983539+11:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"1.29","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MT-ND5 was added\ngene: MT-ND5 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-ND5.\nMode of inheritance for gene gene: MT-ND5 was set to MITOCHONDRIAL\nPublications for gene: MT-ND5 were set to 17400793; 11938446; 12624137; 18495510; 23918514; 17535832; 29506874; 23034978; 16816025; 9299505; 18977334\nPhenotypes for gene: MT-ND5 were set to Mitochondrial disease (MONDO:0044970), MT-ND5-related","entity_name":"MT-ND5","entity_type":"gene"},{"created":"2025-12-14T20:35:51.773531+11:00","panel_name":"Stroke","panel_id":3141,"panel_version":"1.37","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene MT-ND5 from panel Mitochondrial disease","entity_name":null,"entity_type":null},{"created":"2025-12-14T20:35:51.702951+11:00","panel_name":"Stroke","panel_id":3141,"panel_version":"1.37","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MT-ND5 was added\ngene: MT-ND5 was added to Stroke. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-ND5.\nMode of inheritance for gene gene: MT-ND5 was set to MITOCHONDRIAL\nPublications for gene: MT-ND5 were set to 17400793; 11938446; 12624137; 18495510; 23918514; 17535832; 29506874; 23034978; 16816025; 9299505; 18977334\nPhenotypes for gene: MT-ND5 were set to Mitochondrial disease (MONDO:0044970), MT-ND5-related","entity_name":"MT-ND5","entity_type":"gene"},{"created":"2025-12-14T20:35:51.484203+11:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.63","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene MT-ND5 from panel Mitochondrial disease","entity_name":null,"entity_type":null},{"created":"2025-12-14T20:35:51.063992+11:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.63","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MT-ND5 was added\ngene: MT-ND5 was added to Optic Atrophy. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-ND5.\nMode of inheritance for gene gene: MT-ND5 was set to MITOCHONDRIAL\nPublications for gene: MT-ND5 were set to 17400793; 11938446; 12624137; 18495510; 23918514; 17535832; 29506874; 23034978; 16816025; 9299505; 18977334\nPhenotypes for gene: MT-ND5 were set to Mitochondrial disease (MONDO:0044970), MT-ND5-related","entity_name":"MT-ND5","entity_type":"gene"},{"created":"2025-12-14T20:34:53.947153+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.306","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene MT-ND5 from panel Mitochondrial disease","entity_name":null,"entity_type":null},{"created":"2025-12-14T20:34:53.667608+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.306","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MT-ND5 was added\ngene: MT-ND5 was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-ND5.\nMode of inheritance for gene gene: MT-ND5 was set to MITOCHONDRIAL\nPublications for gene: MT-ND5 were set to 17400793; 11938446; 12624137; 18495510; 23918514; 17535832; 29506874; 23034978; 16816025; 9299505; 18977334\nPhenotypes for gene: MT-ND5 were set to Mitochondrial disease (MONDO:0044970), MT-ND5-related","entity_name":"MT-ND5","entity_type":"gene"},{"created":"2025-12-14T20:32:44.929504+11:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.62","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MT-ND4L as ready","entity_name":"MT-ND4L","entity_type":"gene"},{"created":"2025-12-14T20:32:44.918690+11:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.62","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mt-nd4l has been classified as Amber List (Moderate Evidence).","entity_name":"MT-ND4L","entity_type":"gene"},{"created":"2025-12-14T20:32:31.123167+11:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.62","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene MT-ND4L from panel Mitochondrial disease","entity_name":null,"entity_type":null},{"created":"2025-12-14T20:32:30.961599+11:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.62","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MT-ND4L was added\ngene: MT-ND4L was added to Optic Atrophy. Sources: Expert Review Amber,Expert list\nmtDNA tags were added to gene: MT-ND4L.\nMode of inheritance for gene gene: MT-ND4L was set to MITOCHONDRIAL\nPublications for gene: MT-ND4L were set to 8680405; 11935318; 17003408; 22879922; 24568867\nPhenotypes for gene: MT-ND4L were set to Mitochondrial disease (MONDO:0044970), MT-ND4L-related","entity_name":"MT-ND4L","entity_type":"gene"},{"created":"2025-12-12T17:19:38.160530+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3792","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: IRX4 were changed from Ventricular septal defect to Congenital heart disease MONDO:0005453, IRX4-related","entity_name":"IRX4","entity_type":"gene"},{"created":"2025-12-12T17:16:31.951145+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3791","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: IQSEC3 were changed from Intellectual disability to Intellectual disability MONDO:0001071, IQSEC3-related","entity_name":"IQSEC3","entity_type":"gene"},{"created":"2025-12-12T17:15:32.188041+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3790","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: IQSEC2 were changed from Intellectual developmental disorder, X-linked 1\tMIM#309530, MONDO:0010656; Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347 to Intellectual developmental disorder, X-linked 1 MIM#309530","entity_name":"IQSEC2","entity_type":"gene"},{"created":"2025-12-12T17:14:12.146767+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3789","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: IQGAP3 were changed from Hereditary neuropathy to Hereditary peripheral neuropathy MONDO:0020127, IQGAP3-related","entity_name":"IQGAP3","entity_type":"gene"},{"created":"2025-12-12T17:12:35.733352+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.95","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: IQCE were changed from Postaxial polydactyly to Polydactyly, postaxial, type A7 MIM#617642","entity_name":"IQCE","entity_type":"gene"},{"created":"2025-12-12T17:12:11.922384+11:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.297","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: IQCE were changed from Postaxial polydactyly to Polydactyly, postaxial, type A7 MIM#617642","entity_name":"IQCE","entity_type":"gene"},{"created":"2025-12-12T17:11:23.092719+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3788","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: IQCE were changed from Postaxial polydactyly to Polydactyly, postaxial, type A7 MIM#617642","entity_name":"IQCE","entity_type":"gene"},{"created":"2025-12-12T17:09:40.255583+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3787","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: INSR were changed from Hyperinsulinemic hypoglycemia, familial, 5, MIM# 609968; Leprechaunism, MIM# 246200; Rabson-Mendenhall syndrome, MIM# 262190 to Hyperinsulinemic hypoglycemia, familial, 5, MIM# 609968; Donohue syndrome MIM#246200; Rabson-Mendenhall syndrome, MIM# 262190","entity_name":"INSR","entity_type":"gene"},{"created":"2025-12-12T16:55:07.722474+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3786","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: IMPDH2 were changed from Neurodevelopmental disorder with dystonia to Neurodevelopmental disorder (MONDO:0700092), IMPDH2-related","entity_name":"IMPDH2","entity_type":"gene"},{"created":"2025-12-12T16:51:00.804259+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3785","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: IMPDH1 were changed from Leber congenital amaurosis 11 (MIM# 613837); Retinitis pigmentosa 10 (MIM# 180105) to IMPDH1-related retinopathy MONDO:1040051; Leber congenital amaurosis 11 (MIM# 613837); Retinitis pigmentosa 10 (MIM# 180105)","entity_name":"IMPDH1","entity_type":"gene"},{"created":"2025-12-12T16:50:45.893428+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3784","user_name":"Lucy Spencer","item_type":"entity","text":"commented on gene: IMPDH1","entity_name":"IMPDH1","entity_type":"gene"},{"created":"2025-12-12T16:49:16.989276+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3784","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: IMMP2L were changed from Autism to Autism MONDO:0005260, IMMP2L-related","entity_name":"IMMP2L","entity_type":"gene"},{"created":"2025-12-12T16:48:14.960605+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3783","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: ILK were changed from Dilated cardiomyopathy to Dilated cardiomyopathy MONDO:0005021, ILK-related","entity_name":"ILK","entity_type":"gene"},{"created":"2025-12-12T16:35:18.032887+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3782","user_name":"Lucy Spencer","item_type":"entity","text":"commented on gene: IL2RG","entity_name":"IL2RG","entity_type":"gene"},{"created":"2025-12-12T16:31:54.142387+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3782","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: IL1RAP were changed from Steroid-sensitive nephrotic syndrome to Nephrotic syndrome of childhood - steroid sensitive MONDO:0044781, IL1RAP-related","entity_name":"IL1RAP","entity_type":"gene"},{"created":"2025-12-12T16:29:30.290954+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3781","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: IL12RB2 were changed from Susceptibility to mycobacteria and Salmonella to Immunodeficiency disease MONDO:0021094, IL12RB1-related","entity_name":"IL12RB2","entity_type":"gene"},{"created":"2025-12-12T16:27:10.774658+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3780","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: IL10 were changed from Diseases of Immune Dysregulation; Early-onset inflammatory bowel disease to Immune system disorder  MONDO:0005046, IL10-related; IL10-related early-onset inflammatory bowel disease MONDO:0016542","entity_name":"IL10","entity_type":"gene"},{"created":"2025-12-12T16:24:12.360427+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3779","user_name":"Lucy Spencer","item_type":"entity","text":"commented on gene: IL10","entity_name":"IL10","entity_type":"gene"},{"created":"2025-12-12T16:14:10.185759+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3779","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: IKBKG were changed from Ectodermal dysplasia and immunodeficiency 1, MIM# 300291; Immunodeficiency 33 , MIM#300636; Incontinentia pigmenti, MIM# 308300; Autoinflammatory disease, systemic, X-linked, MIM# 301081 to IKBKG-related immunodeficiency with or without ectodermal dysplasia MONDO:0100162; Ectodermal dysplasia and immunodeficiency 1, MIM# 300291; Immunodeficiency 33 , MIM#300636; Incontinentia pigmenti, MIM# 308300; Autoinflammatory disease, systemic, X-linked, MIM# 301081","entity_name":"IKBKG","entity_type":"gene"},{"created":"2025-12-12T16:13:52.701569+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3778","user_name":"Lucy Spencer","item_type":"entity","text":"commented on gene: IKBKG","entity_name":"IKBKG","entity_type":"gene"},{"created":"2025-12-12T16:04:47.875713+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3778","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: IGHMBP2 were changed from Neuronopathy, distal hereditary motor, type VI, MIM# 604320; Charcot-Marie-Tooth disease, axonal, type 2S, MIM# 616155 to Hereditary peripheral neuropathy MONDO:0020127, IGHMBP2-related; Neuronopathy, distal hereditary motor, type VI, MIM# 604320; Charcot-Marie-Tooth disease, axonal, type 2S, MIM# 616155","entity_name":"IGHMBP2","entity_type":"gene"},{"created":"2025-12-12T16:04:13.557885+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3777","user_name":"Lucy Spencer","item_type":"entity","text":"commented on gene: IGHMBP2","entity_name":"IGHMBP2","entity_type":"gene"},{"created":"2025-12-12T16:01:59.018250+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3777","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: IFT74 were changed from Bardet-Biedl syndrome 20, MIM# 617119; Joubert syndrome 40, MIM# 619582; Spermatogenic failure 58, MIM#\t619585 to Ciliopathy MONDO:0005308, IFT74-related; Bardet-Biedl syndrome 20, MIM# 617119; Joubert syndrome 40, MIM# 619582; Spermatogenic failure 58, MIM#\t619585","entity_name":"IFT74","entity_type":"gene"},{"created":"2025-12-12T16:01:34.126929+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3776","user_name":"Lucy Spencer","item_type":"entity","text":"commented on gene: IFT74","entity_name":"IFT74","entity_type":"gene"},{"created":"2025-12-12T15:56:45.418378+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3776","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: IFT172 were changed from Retinitis pigmentosa 71 616394; Short-rib thoracic dysplasia 10 with or without polydactyly - 615630; Bardet-Biedl syndrome 20, MIM# 619471 to Ciliopathy MONDO:0005308, IFT172-related; Retinitis pigmentosa 71 616394; Short-rib thoracic dysplasia 10 with or without polydactyly - 615630; Bardet-Biedl syndrome 20, MIM# 619471","entity_name":"IFT172","entity_type":"gene"},{"created":"2025-12-12T15:56:13.721444+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3775","user_name":"Lucy Spencer","item_type":"entity","text":"commented on gene: IFT172","entity_name":"IFT172","entity_type":"gene"},{"created":"2025-12-12T15:52:58.986965+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3775","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: IFT140 were changed from Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; Retinitis pigmentosa 80, MIM# 617781; {Polycystic kidney disease 9, susceptibility to} MIM#621164; Cranioectodermal dysplasia 5, MIM# 621180 to IFT140-related recessive ciliopathy MONDO:0100509; Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; Retinitis pigmentosa 80, MIM# 617781; {Polycystic kidney disease 9, susceptibility to} MIM#621164; Cranioectodermal dysplasia 5, MIM# 621180","entity_name":"IFT140","entity_type":"gene"},{"created":"2025-12-12T15:52:20.734275+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3774","user_name":"Lucy Spencer","item_type":"entity","text":"commented on gene: IFT140","entity_name":"IFT140","entity_type":"gene"},{"created":"2025-12-12T15:46:58.086152+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"1.44","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: IFRD1 were changed from autosomal dominant sensory/motor neuropathy with ataxia (OMIM#607458); HMSN to Hereditary spastic paraplegia MONDO:0019064, IFRD1-related","entity_name":"IFRD1","entity_type":"gene"}]}