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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1875",
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"results": [
{
"created": "2020-04-09T17:01:20.946218+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATAD3A were set to 27640307; 28652416",
"entity_name": "ATAD3A",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:56:59.464319+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.44",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: NBAS was added\ngene: NBAS was added to Optic Atrophy. Sources: Expert Review\nMode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NBAS were set to PMID: 20577004; 26286438\nPhenotypes for gene: NBAS were set to Short stature, optic nerve atrophy, and Pelger-Huet anomaly\nReview for gene: NBAS was set to GREEN\nAdded comment: PMID: 20577004 - Study of 30 Yakut families found ALL had OA, 33/34 patients had the same homozygous missense*, founder very likely\r\n\r\nPMID: 26286438 - 1 patient chet for a PTC and missense w/ AO. Second patient (also chet PTC/missense) had NO OA \nSources: Expert Review",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:51:55.532284+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.44",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: UBA5: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 28965491, PMID: 27545674, PMID: 27545681; Phenotypes: Epileptic encephalopathy, early infantile, 44 (MIM#617132); Mode of inheritance: None",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:51:28.631289+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP3B2 were changed from to Early-onset epileptic encephalopathy with optic atrophy, MIM#617276",
"entity_name": "AP3B2",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:50:58.048038+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATAD3A were set to ",
"entity_name": "ATAD3A",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:50:36.874538+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP3B2 were set to ",
"entity_name": "AP3B2",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:50:35.324092+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.58",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25255767, 31970217, 28487785, 28849312, 29788902; Phenotypes: Dystonia, juvenile-onset MIM#607371; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:49:54.656018+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AP3B2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP3B2",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:48:34.046422+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: ATAD3A was changed from to Other",
"entity_name": "ATAD3A",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:48:17.801752+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UCHL1 as ready",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:48:17.787519+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uchl1 has been classified as Green List (High Evidence).",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:47:22.318925+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATAD3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATAD3A",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:45:12.750646+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TIMM50 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TIMM50",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:44:05.513928+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C12orf65 as ready",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:44:05.504997+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c12orf65 has been classified as Green List (High Evidence).",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:43:49.331001+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AUH as Amber List (moderate evidence)",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:43:49.317534+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: auh has been classified as Amber List (Moderate Evidence).",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:43:20.901209+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AUH: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-methylglutaconic aciduria, type I 250950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:42:12.915241+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UCHL1 were changed from to Spastic paraplegia 79, autosomal recessive (MIM#615491)",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:41:52.333225+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TIMM50 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TIMM50",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:41:51.873986+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC88A as ready",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:41:51.859326+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc88a has been classified as Amber List (Moderate Evidence).",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:41:26.818929+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C12orf65 were changed from to Combined oxidative phosphorylation deficiency 7; Spastic paraplegia 55, autosomal recessive",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:41:18.779237+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TIMM50 as ready",
"entity_name": "TIMM50",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:41:18.755539+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: timm50 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TIMM50",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:40:22.079621+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C12orf65 were set to ",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:39:58.667966+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: C12orf65 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:39:06.791730+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UCHL1 were set to ",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:38:56.487400+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MECR as ready",
"entity_name": "MECR",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:38:56.476774+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mecr has been classified as Green List (High Evidence).",
"entity_name": "MECR",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:38:42.729494+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UCHL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:37:49.075859+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC88A were changed from PEHO syndrome-like, MIM#617507 to PEHO syndrome-like, MIM#617507",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:37:43.420002+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CISD2 as ready",
"entity_name": "CISD2",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:37:43.409515+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cisd2 has been classified as Green List (High Evidence).",
"entity_name": "CISD2",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:37:02.234542+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC88A were changed from to PEHO syndrome-like, MIM#617507",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:37:00.647001+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC88A as ready",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:37:00.640263+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Two families and a mouse model; only one family reported with OA.",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:37:00.581611+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc88a has been classified as Amber List (Moderate Evidence).",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:36:28.781098+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCDC88A were set to ",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:35:25.689070+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCDC88A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:34:58.143113+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CCDC88A as Amber List (moderate evidence)",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:34:58.129999+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc88a has been classified as Amber List (Moderate Evidence).",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:33:16.527899+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CISD2 were changed from Wolfram syndrome 2, MIM#604928 to Wolfram syndrome 2, MIM#604928",
"entity_name": "CISD2",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:32:56.600586+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MECR were changed from Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities",
"entity_name": "MECR",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:32:37.113664+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TIMM50 were changed from 3-methylglutaconic aciduria, type IX (MIM#617698) to 3-methylglutaconic aciduria, type IX (MIM#617698)",
"entity_name": "TIMM50",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:32:28.779409+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A46 as ready",
"entity_name": "SLC25A46",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:32:28.764387+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a46 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A46",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:32:16.173613+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TIMM50 were changed from to 3-methylglutaconic aciduria, type IX (MIM#617698)",
"entity_name": "TIMM50",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:31:52.906733+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TIMM50 were set to ",
"entity_name": "TIMM50",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:31:28.080317+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TIMM50 as Amber List (moderate evidence)",
"entity_name": "TIMM50",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:31:28.071693+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: timm50 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TIMM50",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:24:26.156493+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC25A46 were changed from to Neuropathy, hereditary motor and sensory, type VIB (MIM#616505)",
"entity_name": "SLC25A46",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:24:06.357095+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MECR were changed from to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities",
"entity_name": "MECR",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:23:46.490582+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CISD2 were changed from to Wolfram syndrome 2, MIM#604928",
"entity_name": "CISD2",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:23:06.261497+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC25A46 were set to ",
"entity_name": "SLC25A46",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:22:43.728233+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC25A46 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A46",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:22:04.723537+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.58",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: MECR was added\ngene: MECR was added to Dystonia - complex. Sources: Expert Review\nMode of inheritance for gene: MECR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MECR were set to PMID: 27817865; 31137067\nPhenotypes for gene: MECR were set to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities\nReview for gene: MECR was set to GREEN\nAdded comment: PMID: 27817865 - 4/5 families w/ bilallelic variants reported w/ dystonia with variable features\r\n\r\nPMID: 31137067 - 1 patient w/ chet missense/PTCs and dystonia with variable features \nSources: Expert Review",
"entity_name": "MECR",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:21:39.654055+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CISD2 were set to ",
"entity_name": "CISD2",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:21:28.940436+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFS1 as ready",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:21:28.926809+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufs1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:21:06.844461+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CISD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CISD2",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:19:56.600256+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MECR were set to ",
"entity_name": "MECR",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:18:40.544886+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MECR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MECR",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:16:21.085258+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFS1 were changed from to Mitochondrial complex I deficiency, nuclear type 5, 618226",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:15:39.857383+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFS1 were set to ",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:15:17.398807+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:14:55.114999+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFS1 as Amber List (moderate evidence)",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2020-04-09T16:14:55.106117+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufs1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2020-04-09T15:49:03.101070+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.11",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: NDUFS1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 11349233, 24952175, 22200994, 21203893; Phenotypes: Mitochondrial complex I deficiency, nuclear type 5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2020-04-09T15:28:44.695448+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.11",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: MECR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27817865, 31137067; Phenotypes: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MECR",
"entity_type": "gene"
},
{
"created": "2020-04-09T15:10:50.129816+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BLOC1S6 as ready",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2020-04-09T15:10:50.120793+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bloc1s6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2020-04-09T15:10:34.048429+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BLOC1S6 were changed from to Hermansky-Pudlak syndrome 9, MIM# 614171",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2020-04-09T15:10:10.478103+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BLOC1S6 were set to ",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2020-04-09T15:09:47.731270+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BLOC1S6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2020-04-09T14:56:56.957335+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.11",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: CISD2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19451219, 25056293, 28335035, 31391115, 25371195; Phenotypes: Wolfram syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CISD2",
"entity_type": "gene"
},
{
"created": "2020-04-09T14:12:08.692879+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.11",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26168012, PMID: 28376086; Phenotypes: Neuropathy, hereditary motor and sensory, type VIB (MIM#616505); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A46",
"entity_type": "gene"
},
{
"created": "2020-04-09T13:52:52.868588+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2045",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MIR140 as ready",
"entity_name": "MIR140",
"entity_type": "gene"
},
{
"created": "2020-04-09T13:52:52.855163+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2045",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mir140 has been classified as Green List (High Evidence).",
"entity_name": "MIR140",
"entity_type": "gene"
},
{
"created": "2020-04-09T13:52:43.273871+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2045",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MIR140 as Green List (high evidence)",
"entity_name": "MIR140",
"entity_type": "gene"
},
{
"created": "2020-04-09T13:52:43.259131+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2045",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mir140 has been classified as Green List (High Evidence).",
"entity_name": "MIR140",
"entity_type": "gene"
},
{
"created": "2020-04-09T13:52:24.871663+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2044",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MIR140 was added\ngene: MIR140 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: MIR140 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MIR140 were set to 30804514; 31633310\nPhenotypes for gene: MIR140 were set to Spondyloepiphyseal dysplasia, Nishimura type, MIM#\t618618\nReview for gene: MIR140 was set to GREEN\nAdded comment: Single clinical paper (30804514) reports variant in affected mother and child (de novo in mother) and in a separate unrelated female (de novo) with spondylo-epiphyseal dysplasia. Mouse model (21576357) deletion of gene causes impaired longitudinal bone growth. Separate mouse model studies by same authors as clinical paper above (30804514) showed phenotype of mice with same mutation in this gene consistent with the skeletal dysplasia features of patients with the n.24A-G mutation, suggestive of neomorphic effects (mutation produces both loss-of-function and gain-of-function effects.) \nSources: Expert Review",
"entity_name": "MIR140",
"entity_type": "gene"
},
{
"created": "2020-04-09T13:44:17.853323+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MIR140 as ready",
"entity_name": "MIR140",
"entity_type": "gene"
},
{
"created": "2020-04-09T13:44:17.844384+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mir140 has been classified as Green List (High Evidence).",
"entity_name": "MIR140",
"entity_type": "gene"
},
{
"created": "2020-04-09T13:34:25.991499+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MIR140 were changed from 618618 to Spondyloepiphyseal dysplasia, Nishimura type, MIM#\t618618",
"entity_name": "MIR140",
"entity_type": "gene"
},
{
"created": "2020-04-09T13:31:08.103338+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MIR140 as Green List (high evidence)",
"entity_name": "MIR140",
"entity_type": "gene"
},
{
"created": "2020-04-09T13:31:08.088979+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mir140 has been classified as Green List (High Evidence).",
"entity_name": "MIR140",
"entity_type": "gene"
},
{
"created": "2020-04-09T13:29:32.386685+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.11",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: TIMM50: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27573165, PMID: 31058414; Phenotypes: 3-methylglutaconic aciduria, type IX (MIM#617698); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TIMM50",
"entity_type": "gene"
},
{
"created": "2020-04-09T12:46:21.378272+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.11",
"user_name": "Chris Richmond",
"item_type": "entity",
"text": "gene: MIR140 was added\ngene: MIR140 was added to Skeletal dysplasia. Sources: Expert Review\nMode of inheritance for gene: MIR140 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MIR140 were set to 30804514; 31633310\nPhenotypes for gene: MIR140 were set to 618618\nPenetrance for gene: MIR140 were set to unknown\nMode of pathogenicity for gene: MIR140 was set to Other\nReview for gene: MIR140 was set to GREEN\nAdded comment: Single clinical paper (30804514) reports variant in affected mother and child (de novo in mother) and in a separate unrelated female (de novo) with spondylo-epiphyseal dysplasia. Mouse model (21576357) deletion of gene causes impaired longitudinal bone growth. Separate mouse model studies by same authors as clinical paper above (30804514) showed phenotype of mice with same mutation in this gene consistent with the skeletal dysplasia features of patients with the n.24A-G mutation, suggestive of neomorphic effects (mutation produces both loss-of-function and gain-of-function effects.) \nSources: Expert Review",
"entity_name": "MIR140",
"entity_type": "gene"
},
{
"created": "2020-04-09T12:31:26.373376+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.11",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: CCDC88A: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 26917597, 30392057, 28899015; Phenotypes: ?PEHO syndrome-like; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2020-04-09T12:19:34.977561+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.11",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: UCHL1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29735986, PMID: 23359680, PMID: 28007905; Phenotypes: Spastic paraplegia 79, autosomal recessive (MIM#615491); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2020-04-09T12:04:52.819449+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.11",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20598281, 23188110, 24198383; Phenotypes: Combined oxidative phosphorylation deficiency 7, Spastic paraplegia 55, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2020-04-09T11:46:23.389136+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.11",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: AUH: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 20855850, 30143805, 31765440, 1594352; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2020-04-09T11:45:41.230626+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BLOC1S6 as Amber List (moderate evidence)",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2020-04-09T11:45:41.217651+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bloc1s6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2020-04-09T11:43:24.432600+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BLOC1S6: Rating: AMBER; Mode of pathogenicity: None; Publications: 22461475, 21665000, 32245340; Phenotypes: Hermansky-Pudlak syndrome 9, MIM# 614171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2020-04-09T11:40:15.295946+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BLOC1S6 as ready",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2020-04-09T11:40:15.282891+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bloc1s6 has been classified as Red List (Low Evidence).",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2020-04-09T11:40:10.492085+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BLOC1S6 were changed from to Hermansky-Pudlak syndrome 9, MIM# 614171",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2020-04-09T11:39:41.618693+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BLOC1S6 were set to ",
"entity_name": "BLOC1S6",
"entity_type": "gene"
}
]
}