{"count":221416,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=425","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=423","results":[{"created":"2024-07-15T10:45:16.473134+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.191","user_name":"Chirag Patel","item_type":"entity","text":"gene: PTPN11 was added\ngene: PTPN11 was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PTPN11 were set to PMID: 20301557, 32737134\nPhenotypes for gene: PTPN11 were set to Noonan Syndrome with Multiple Lentigines, OMIM # 151100\nReview for gene: PTPN11 was set to GREEN\ngene: PTPN11 was marked as current diagnostic\nAdded comment: Established gene-disease association.\r\nSensorineural hearing loss is present in ~20% of 'Noonan Syndrome with Multiple Lentigines' \nSources: Literature","entity_name":"PTPN11","entity_type":"gene"},{"created":"2024-07-15T10:44:51.943594+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.191","user_name":"Chirag Patel","item_type":"entity","text":"gene: BRAF was added\ngene: BRAF was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BRAF were set to PMID: 20301557\nPhenotypes for gene: BRAF were set to Noonan Syndrome with Multiple Lentigines, OMIM # 613707\nReview for gene: BRAF was set to GREEN\ngene: BRAF was marked as current diagnostic\nAdded comment: Established gene-disease association.\r\nSensorineural hearing loss is present in ~20% of 'Noonan Syndrome with Multiple Lentigines' \nSources: Literature","entity_name":"BRAF","entity_type":"gene"},{"created":"2024-07-14T20:36:07.168177+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.81","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PHGDH as Green List (high evidence)","entity_name":"PHGDH","entity_type":"gene"},{"created":"2024-07-14T20:36:07.148044+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.81","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: phgdh has been classified as Green List (High Evidence).","entity_name":"PHGDH","entity_type":"gene"},{"created":"2024-07-14T19:30:07.575488+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.80","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PHYKPL as ready","entity_name":"PHYKPL","entity_type":"gene"},{"created":"2024-07-14T19:30:07.561306+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.80","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: phykpl has been classified as Red List (Low Evidence).","entity_name":"PHYKPL","entity_type":"gene"},{"created":"2024-07-14T19:30:03.432884+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.80","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PHYKPL as Red List (low evidence)","entity_name":"PHYKPL","entity_type":"gene"},{"created":"2024-07-14T19:30:03.404245+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.80","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: phykpl has been classified as Red List (Low Evidence).","entity_name":"PHYKPL","entity_type":"gene"},{"created":"2024-07-14T19:29:26.944433+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.79","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRODH as ready","entity_name":"PRODH","entity_type":"gene"},{"created":"2024-07-14T19:29:26.924169+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.79","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prodh has been classified as Green List (High Evidence).","entity_name":"PRODH","entity_type":"gene"},{"created":"2024-07-14T19:29:21.931802+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.79","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRODH as Green List (high evidence)","entity_name":"PRODH","entity_type":"gene"},{"created":"2024-07-14T19:29:21.918209+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.79","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prodh has been classified as Green List (High Evidence).","entity_name":"PRODH","entity_type":"gene"},{"created":"2024-07-14T19:28:57.374755+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.78","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRODH2 as ready","entity_name":"PRODH2","entity_type":"gene"},{"created":"2024-07-14T19:28:57.362636+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.78","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prodh2 has been classified as Red List (Low Evidence).","entity_name":"PRODH2","entity_type":"gene"},{"created":"2024-07-14T19:28:53.865447+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.78","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRODH2 as Red List (low evidence)","entity_name":"PRODH2","entity_type":"gene"},{"created":"2024-07-14T19:28:53.851653+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.78","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prodh2 has been classified as Red List (Low Evidence).","entity_name":"PRODH2","entity_type":"gene"},{"created":"2024-07-14T19:28:33.764905+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1882","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRODH2 as ready","entity_name":"PRODH2","entity_type":"gene"},{"created":"2024-07-14T19:28:33.750910+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1882","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prodh2 has been classified as Red List (Low Evidence).","entity_name":"PRODH2","entity_type":"gene"},{"created":"2024-07-14T19:28:21.097703+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1882","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRODH2 as Red List (low evidence)","entity_name":"PRODH2","entity_type":"gene"},{"created":"2024-07-14T19:28:21.067723+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1882","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prodh2 has been classified as Red List (Low Evidence).","entity_name":"PRODH2","entity_type":"gene"},{"created":"2024-07-14T19:27:27.479481+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.77","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PSAT1 as ready","entity_name":"PSAT1","entity_type":"gene"},{"created":"2024-07-14T19:27:27.466890+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.77","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: psat1 has been classified as Green List (High Evidence).","entity_name":"PSAT1","entity_type":"gene"},{"created":"2024-07-14T19:27:23.559549+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.77","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PSAT1 as Green List (high evidence)","entity_name":"PSAT1","entity_type":"gene"},{"created":"2024-07-14T19:27:23.546564+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.77","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: psat1 has been classified as Green List (High Evidence).","entity_name":"PSAT1","entity_type":"gene"},{"created":"2024-07-14T19:27:05.181452+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.76","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PSPH as ready","entity_name":"PSPH","entity_type":"gene"},{"created":"2024-07-14T19:27:05.162096+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.76","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: psph has been classified as Green List (High Evidence).","entity_name":"PSPH","entity_type":"gene"},{"created":"2024-07-14T19:27:00.563780+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.76","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PSPH as Green List (high evidence)","entity_name":"PSPH","entity_type":"gene"},{"created":"2024-07-14T19:27:00.546997+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.76","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: psph has been classified as Green List (High Evidence).","entity_name":"PSPH","entity_type":"gene"},{"created":"2024-07-14T19:26:42.295383+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.75","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTS as ready","entity_name":"PTS","entity_type":"gene"},{"created":"2024-07-14T19:26:42.275102+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.75","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pts has been classified as Green List (High Evidence).","entity_name":"PTS","entity_type":"gene"},{"created":"2024-07-14T19:26:38.030654+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.75","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PTS as Green List (high evidence)","entity_name":"PTS","entity_type":"gene"},{"created":"2024-07-14T19:26:38.001014+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.75","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pts has been classified as Green List (High Evidence).","entity_name":"PTS","entity_type":"gene"},{"created":"2024-07-14T19:26:16.441560+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.74","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PYCR1 as ready","entity_name":"PYCR1","entity_type":"gene"},{"created":"2024-07-14T19:26:16.426959+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.74","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pycr1 has been classified as Green List (High Evidence).","entity_name":"PYCR1","entity_type":"gene"},{"created":"2024-07-14T19:26:12.612631+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.74","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PYCR1 as Green List (high evidence)","entity_name":"PYCR1","entity_type":"gene"},{"created":"2024-07-14T19:26:12.600363+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.74","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pycr1 has been classified as Green List (High Evidence).","entity_name":"PYCR1","entity_type":"gene"},{"created":"2024-07-14T19:25:50.076162+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.73","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: QDPR as ready","entity_name":"QDPR","entity_type":"gene"},{"created":"2024-07-14T19:25:50.050071+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.73","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: qdpr has been classified as Green List (High Evidence).","entity_name":"QDPR","entity_type":"gene"},{"created":"2024-07-14T19:25:33.113445+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.73","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: QDPR as Green List (high evidence)","entity_name":"QDPR","entity_type":"gene"},{"created":"2024-07-14T19:25:33.098887+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.73","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: qdpr has been classified as Green List (High Evidence).","entity_name":"QDPR","entity_type":"gene"},{"created":"2024-07-14T19:25:08.618788+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.72","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SARDH as ready","entity_name":"SARDH","entity_type":"gene"},{"created":"2024-07-14T19:25:08.605932+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.72","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sardh has been classified as Red List (Low Evidence).","entity_name":"SARDH","entity_type":"gene"},{"created":"2024-07-14T19:25:04.163115+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.72","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SARDH as Red List (low evidence)","entity_name":"SARDH","entity_type":"gene"},{"created":"2024-07-14T19:25:04.150046+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.72","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sardh has been classified as Red List (Low Evidence).","entity_name":"SARDH","entity_type":"gene"},{"created":"2024-07-14T19:23:37.149333+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.71","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SELENBP1 as ready","entity_name":"SELENBP1","entity_type":"gene"},{"created":"2024-07-14T19:23:37.127946+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.71","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: selenbp1 has been classified as Green List (High Evidence).","entity_name":"SELENBP1","entity_type":"gene"},{"created":"2024-07-14T19:23:30.865207+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.71","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SELENBP1 as Green List (high evidence)","entity_name":"SELENBP1","entity_type":"gene"},{"created":"2024-07-14T19:23:30.851301+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.71","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: selenbp1 has been classified as Green List (High Evidence).","entity_name":"SELENBP1","entity_type":"gene"},{"created":"2024-07-14T19:23:13.695648+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1881","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SELENBP1 as ready","entity_name":"SELENBP1","entity_type":"gene"},{"created":"2024-07-14T19:23:13.671872+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1881","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: selenbp1 has been classified as Green List (High Evidence).","entity_name":"SELENBP1","entity_type":"gene"},{"created":"2024-07-14T19:23:03.476539+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1881","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SELENBP1 as Green List (high evidence)","entity_name":"SELENBP1","entity_type":"gene"},{"created":"2024-07-14T19:23:03.462095+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1881","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: selenbp1 has been classified as Green List (High Evidence).","entity_name":"SELENBP1","entity_type":"gene"},{"created":"2024-07-14T19:21:46.750174+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.70","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SHMT2 as ready","entity_name":"SHMT2","entity_type":"gene"},{"created":"2024-07-14T19:21:46.732126+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.70","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: shmt2 has been classified as Green List (High Evidence).","entity_name":"SHMT2","entity_type":"gene"},{"created":"2024-07-14T19:21:41.382946+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.70","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SHMT2 as Green List (high evidence)","entity_name":"SHMT2","entity_type":"gene"},{"created":"2024-07-14T19:21:41.366667+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.70","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: shmt2 has been classified as Green List (High Evidence).","entity_name":"SHMT2","entity_type":"gene"},{"created":"2024-07-14T19:21:10.128685+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.69","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC1A1 as ready","entity_name":"SLC1A1","entity_type":"gene"},{"created":"2024-07-14T19:21:10.113249+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.69","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc1a1 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC1A1","entity_type":"gene"},{"created":"2024-07-14T19:20:56.695676+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.69","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC1A1 as Amber List (moderate evidence)","entity_name":"SLC1A1","entity_type":"gene"},{"created":"2024-07-14T19:20:56.678489+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.69","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc1a1 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC1A1","entity_type":"gene"},{"created":"2024-07-14T19:20:27.934816+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.68","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC1A2 as ready","entity_name":"SLC1A2","entity_type":"gene"},{"created":"2024-07-14T19:20:27.920862+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.68","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc1a2 has been classified as Green List (High Evidence).","entity_name":"SLC1A2","entity_type":"gene"},{"created":"2024-07-14T19:20:19.490314+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.68","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC1A2 as Green List (high evidence)","entity_name":"SLC1A2","entity_type":"gene"},{"created":"2024-07-14T19:20:19.475907+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.68","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc1a2 has been classified as Green List (High Evidence).","entity_name":"SLC1A2","entity_type":"gene"},{"created":"2024-07-14T19:20:00.275990+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.67","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC1A3 as ready","entity_name":"SLC1A3","entity_type":"gene"},{"created":"2024-07-14T19:20:00.251256+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.67","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc1a3 has been classified as Green List (High Evidence).","entity_name":"SLC1A3","entity_type":"gene"},{"created":"2024-07-14T18:39:25.951881+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.67","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC1A3 as Green List (high evidence)","entity_name":"SLC1A3","entity_type":"gene"},{"created":"2024-07-14T18:39:25.935977+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.67","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc1a3 has been classified as Green List (High Evidence).","entity_name":"SLC1A3","entity_type":"gene"},{"created":"2024-07-14T18:38:40.052706+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1880","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RNU4-2 were set to 38645094","entity_name":"RNU4-2","entity_type":"gene"},{"created":"2024-07-14T18:38:19.861228+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1879","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RNU4-2: Changed publications: 38991538","entity_name":"RNU4-2","entity_type":"gene"},{"created":"2024-07-14T18:38:03.975583+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6062","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RNU4-2 were set to 38645094","entity_name":"RNU4-2","entity_type":"gene"},{"created":"2024-07-14T18:37:26.118888+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6061","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RNU4-2: Changed publications: 38991538","entity_name":"RNU4-2","entity_type":"gene"},{"created":"2024-07-14T14:00:17.775429+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.26","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FDXR as ready","entity_name":"FDXR","entity_type":"gene"},{"created":"2024-07-14T14:00:17.756930+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fdxr has been classified as Green List (High Evidence).","entity_name":"FDXR","entity_type":"gene"},{"created":"2024-07-14T14:00:12.934701+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.26","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FDXR as Green List (high evidence)","entity_name":"FDXR","entity_type":"gene"},{"created":"2024-07-14T14:00:12.909940+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fdxr has been classified as Green List (High Evidence).","entity_name":"FDXR","entity_type":"gene"},{"created":"2024-07-14T13:59:46.166419+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.25","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FDXR was added\ngene: FDXR was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: FDXR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FDXR were set to 30250212; 28965846; 29040572; 33348459; 37046037; 37481223\nPhenotypes for gene: FDXR were set to Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887\nReview for gene: FDXR was set to GREEN\nAdded comment: Multiple reports of individuals with extra-ocular features, including ID and regression; microcephaly. Ataxia reported in multiple individuals, largely paediatric. \nSources: Literature","entity_name":"FDXR","entity_type":"gene"},{"created":"2024-07-14T13:56:07.640964+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.556","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FDXR were set to 30250212","entity_name":"FDXR","entity_type":"gene"},{"created":"2024-07-14T13:55:33.738683+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.555","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FDXR as Green List (high evidence)","entity_name":"FDXR","entity_type":"gene"},{"created":"2024-07-14T13:55:33.726301+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.555","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fdxr has been classified as Green List (High Evidence).","entity_name":"FDXR","entity_type":"gene"},{"created":"2024-07-14T13:55:02.200950+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.554","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FDXR: Added comment: Multiple reports of individuals with extra-ocular features, including ID and regression; microcephaly.; Changed rating: GREEN; Changed publications: 30250212, 28965846, 29040572, 33348459, 37046037, 37481223; Changed phenotypes: Auditory neuropathy and optic atrophy, MIM# 617717, Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887","entity_name":"FDXR","entity_type":"gene"},{"created":"2024-07-14T13:54:02.405691+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.927","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FDXR as ready","entity_name":"FDXR","entity_type":"gene"},{"created":"2024-07-14T13:54:02.391459+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.927","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fdxr has been classified as Green List (High Evidence).","entity_name":"FDXR","entity_type":"gene"},{"created":"2024-07-14T13:53:57.348362+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.927","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FDXR were changed from  to Auditory neuropathy and optic atrophy, MIM#617717; Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887","entity_name":"FDXR","entity_type":"gene"},{"created":"2024-07-14T13:52:42.982875+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.926","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FDXR were set to ","entity_name":"FDXR","entity_type":"gene"},{"created":"2024-07-14T13:51:58.987314+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.925","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FDXR was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FDXR","entity_type":"gene"},{"created":"2024-07-14T13:51:25.924080+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.924","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FDXR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FDXR","entity_type":"gene"},{"created":"2024-07-14T13:50:39.826160+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.923","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FDXR: Added comment: Multiple reports of individuals with extra-ocular features, including ID and regression; microcephaly. Leigh-like presentation at the severe end of the spectrum.; Changed publications: 30250212, 28965846, 29040572, 33348459, 37046037, 37481223; Changed phenotypes: Auditory neuropathy and optic atrophy, MIM#617717, Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887","entity_name":"FDXR","entity_type":"gene"},{"created":"2024-07-14T13:50:03.975770+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.268","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FDXR were changed from Auditory neuropathy and optic atrophy, MIM# 617717 to Auditory neuropathy and optic atrophy, MIM# 617717; Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887","entity_name":"FDXR","entity_type":"gene"},{"created":"2024-07-14T13:49:28.062144+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.267","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FDXR were set to 30250212","entity_name":"FDXR","entity_type":"gene"},{"created":"2024-07-14T13:48:55.548480+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.266","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FDXR as Green List (high evidence)","entity_name":"FDXR","entity_type":"gene"},{"created":"2024-07-14T13:48:55.532849+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.266","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fdxr has been classified as Green List (High Evidence).","entity_name":"FDXR","entity_type":"gene"},{"created":"2024-07-14T13:48:21.880645+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.265","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FDXR: Added comment: Multiple reports of individuals with extra-ocular features, including ID and regression; microcephaly.; Changed rating: GREEN; Changed publications: 30250212, 28965846, 29040572, 33348459, 37046037, 37481223; Changed phenotypes: Auditory neuropathy and optic atrophy, MIM# 617717, Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887","entity_name":"FDXR","entity_type":"gene"},{"created":"2024-07-14T13:48:09.776829+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1879","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FDXR were changed from Auditory neuropathy and optic atrophy, MIM#617717 to Auditory neuropathy and optic atrophy, MIM#617717; Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887","entity_name":"FDXR","entity_type":"gene"},{"created":"2024-07-14T13:47:40.649528+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1878","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FDXR were set to 30250212; 28965846","entity_name":"FDXR","entity_type":"gene"},{"created":"2024-07-14T13:47:13.626772+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6061","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FDXR were set to 30250212","entity_name":"FDXR","entity_type":"gene"},{"created":"2024-07-14T13:46:41.809212+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1877","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FDXR: Added comment: Multiple reports of individuals with extra-ocular features, including ID and regression.; Changed publications: 30250212, 28965846, 29040572, 33348459, 37046037, 37481223; Changed phenotypes: Auditory neuropathy and optic atrophy, MIM#617717, Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887","entity_name":"FDXR","entity_type":"gene"},{"created":"2024-07-14T13:46:21.704202+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6060","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FDXR were changed from Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887; Auditory neuropathy and optic atrophy, MIM# 617717 to Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887; Auditory neuropathy and optic atrophy, MIM# 617717","entity_name":"FDXR","entity_type":"gene"},{"created":"2024-07-14T13:45:43.416579+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6059","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FDXR were changed from Auditory neuropathy and optic atrophy, MIM# 617717 to Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887; Auditory neuropathy and optic atrophy, MIM# 617717","entity_name":"FDXR","entity_type":"gene"},{"created":"2024-07-14T13:44:59.475801+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6058","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FDXR as Green List (high evidence)","entity_name":"FDXR","entity_type":"gene"}]}