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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=425",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&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"
}
]
}