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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=560",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=558",
"results": [
{
"created": "2023-08-21T15:24:46.515869+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.218",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GCH1 as ready",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2023-08-21T15:24:46.492251+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.218",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gch1 has been classified as Red List (Low Evidence).",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2023-08-21T15:20:01.318701+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.218",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FIG4 as ready",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2023-08-21T15:20:01.297961+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.218",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fig4 has been classified as Red List (Low Evidence).",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2023-08-21T15:17:56.947514+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.193",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ANG as Amber List (moderate evidence)",
"entity_name": "ANG",
"entity_type": "gene"
},
{
"created": "2023-08-21T15:17:56.939150+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.193",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ang has been classified as Amber List (Moderate Evidence).",
"entity_name": "ANG",
"entity_type": "gene"
},
{
"created": "2023-08-21T15:17:41.078863+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.218",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ANG as ready",
"entity_name": "ANG",
"entity_type": "gene"
},
{
"created": "2023-08-21T15:17:41.037545+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.218",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ang has been classified as Red List (Low Evidence).",
"entity_name": "ANG",
"entity_type": "gene"
},
{
"created": "2023-08-21T12:36:05.730889+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.218",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ALS2 as ready",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2023-08-21T12:36:05.715273+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.218",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: als2 has been classified as Red List (Low Evidence).",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2023-08-21T10:27:45.409763+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.218",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: SCA17 as Green List (high evidence)",
"entity_name": "SCA17",
"entity_type": "str"
},
{
"created": "2023-08-21T10:27:45.381143+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.218",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: sca17 has been classified as Green List (High Evidence).",
"entity_name": "SCA17",
"entity_type": "str"
},
{
"created": "2023-08-21T10:27:25.332028+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.217",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: SCA17 as ready",
"entity_name": "SCA17",
"entity_type": "str"
},
{
"created": "2023-08-21T10:27:25.316672+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.217",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: sca17 has been classified as Red List (Low Evidence).",
"entity_name": "SCA17",
"entity_type": "str"
},
{
"created": "2023-08-21T10:27:07.593948+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.217",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: SCA17 was added\nSTR: SCA17 was added to Early-onset Dementia. Sources: Expert list\nMode of inheritance for STR: SCA17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: SCA17 were set to 10484774; 20301611\nPhenotypes for STR: SCA17 were set to Spinocerebellar ataxia 17 MIM#607136\nReview for STR: SCA17 was set to GREEN\nSTR: SCA17 was marked as clinically relevant\nAdded comment: NM_003194.4:c.172_174[X]\r\nMechanism of disease expected to be gain of function\r\nNormal: ≤ 40 CAG/CAA repeats\r\nReduced-penetrance: 41-48 CAG/CAA repeats, individual may or may not develop symptoms.\r\nFull-penetrance: ≥49 CAG/CAA repeats\r\nDementia is a feature of the condition \nSources: Expert list",
"entity_name": "SCA17",
"entity_type": "str"
},
{
"created": "2023-08-21T10:26:36.652258+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.216",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "XK",
"entity_type": "gene"
},
{
"created": "2023-08-21T10:26:30.976528+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.216",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "edited their review of gene: XK: Added comment: McLeod Syndrome (MLS) is multisystem disorder with central nervous system (CNS), neuromuscular, cardiovascular, and hematologic manifestations in males.\r\n\r\nDementia is not a typical feature of MLS but cognitive impairment has been identified in multiple individuals with MLS. \r\n\r\nPMID: 12899725\r\nReported in one individual with McLeod Syndrome (MLS) who developed mild dementia during disease progression (age of onset was later in life). Testing confirmed he has a complete deletion of exon 2.\r\n\r\nPMID: 11761473\r\nApprox 15 individuals identified with neurological impact to the central nervous system resulting in cognitive impairment.; Changed rating: GREEN; Changed publications: 12899725, 11761473",
"entity_name": "XK",
"entity_type": "gene"
},
{
"created": "2023-08-21T10:20:56.788424+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.216",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: CCNF: Changed rating: AMBER",
"entity_name": "CCNF",
"entity_type": "gene"
},
{
"created": "2023-08-18T10:30:49.076621+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.248",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: RAB3GAP2 as Green List (high evidence)",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2023-08-18T10:30:49.046217+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.248",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: rab3gap2 has been classified as Green List (High Evidence).",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2023-08-18T10:30:37.866171+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.248",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: RAB3GAP2 as ready",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2023-08-18T10:30:37.853973+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.248",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: rab3gap2 has been classified as Green List (High Evidence).",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2023-08-18T10:30:28.825878+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.248",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAB3GAP2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2023-08-18T10:30:05.111182+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.248",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: RAB3GAP2 were set to 23420520; 20967465",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2023-08-18T10:29:39.645555+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.247",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: RAB3GAP2 were changed from Warburg micro syndrome 2, MIM# 614225 to Martsolf syndrome 1\tMIM#212720",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2023-08-18T10:23:17.363402+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.246",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: RAB3GAP2 were changed from Martsolf syndrome to Warburg micro syndrome 2, MIM# 614225",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2023-08-18T10:22:57.886107+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.246",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: RAB3GAP2 were set to ",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2023-08-18T10:22:38.300747+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.246",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAB3GAP2 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2023-08-18T10:22:19.033936+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.246",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: RAB3GAP2 as Green List (high evidence)",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2023-08-18T10:22:19.001038+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.246",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: rab3gap2 has been classified as Green List (High Evidence).",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2023-08-18T10:21:28.852083+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.245",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: PHF6 as ready",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2023-08-18T10:21:28.843206+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.245",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: phf6 has been classified as Green List (High Evidence).",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2023-08-18T10:20:32.777955+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.245",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PHF6 were changed from Coffin-Siris syndrome to Borjeson-Forssman-Lehmann syndrome, MIM# 301900",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2023-08-18T10:20:12.964952+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.245",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: PHF6 were set to ",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2023-08-18T10:19:52.565950+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.244",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: PHF6 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2023-08-18T10:19:32.990265+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.244",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: PHF6 as Green List (high evidence)",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2023-08-18T10:19:32.979478+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.244",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: phf6 has been classified as Green List (High Evidence).",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2023-08-18T10:18:52.249317+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1117",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: DDRGK1 as ready",
"entity_name": "DDRGK1",
"entity_type": "gene"
},
{
"created": "2023-08-18T10:18:52.239177+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1117",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: ddrgk1 has been classified as Green List (High Evidence).",
"entity_name": "DDRGK1",
"entity_type": "gene"
},
{
"created": "2023-08-18T10:18:33.623069+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1117",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: DDRGK1 as Green List (high evidence)",
"entity_name": "DDRGK1",
"entity_type": "gene"
},
{
"created": "2023-08-18T10:18:33.614668+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1117",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: ddrgk1 has been classified as Green List (High Evidence).",
"entity_name": "DDRGK1",
"entity_type": "gene"
},
{
"created": "2023-08-18T10:18:11.607585+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1116",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: DDRGK1 was added\ngene: DDRGK1 was added to Mendeliome. Sources: Literature\nfounder tags were added to gene: DDRGK1.\nMode of inheritance for gene: DDRGK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DDRGK1 were set to 28263186; 35377455; 35670300; 36243336\nPhenotypes for gene: DDRGK1 were set to Spondyloepimetaphyseal dysplasia, Shohat type (MIM#602557)\nReview for gene: DDRGK1 was set to GREEN\ngene: DDRGK1 was marked as current diagnostic\nAdded comment: RNA and protein studies performed for the splice variant. These two variants likely represents founder variants\r\n\r\nPMID:28263186 reported six individuals from three different families of Iraqi Jewish descent (three patients from family 1 and one individual each from families 2-4) identified with homozygous c.408+1G>A donor splice site loss-of-function mutation in DDRGK1 and presented with Shohat-type spondyloepimetaphyseal dysplasia (SEMD). It is a skeletal dysplasia that affects cartilage development.\r\n\r\nPMID: 35670300 reported two unrelated cases of Moroccan descent identified with homozygous missense variant c.406G>A and presented with SEMD. PMID:36243336 reported an Omani female patient identified with the same homozygous variant as the Iraqi cases and was reported with SEMD.\r\n\r\nIn addition, studies on both zebrafish and mouse models confirms the physiological role of DDRGK1 in the development and maintenance of the growth plate cartilage and deficiency of DDRGK1 recapitulate the clinical phenotype of short stature and joint abnormalities observed in patients with Shohat type SEMD (PMID:28263186; PMID:35377455). \nSources: Literature",
"entity_name": "DDRGK1",
"entity_type": "gene"
},
{
"created": "2023-08-18T10:16:21.468576+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.243",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: DDRGK1 as ready",
"entity_name": "DDRGK1",
"entity_type": "gene"
},
{
"created": "2023-08-18T10:16:21.462526+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.243",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: RNA and protein studies performed for the splice variant. These two variants likely represents founder variants",
"entity_name": "DDRGK1",
"entity_type": "gene"
},
{
"created": "2023-08-18T10:16:21.414781+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.243",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: ddrgk1 has been classified as Green List (High Evidence).",
"entity_name": "DDRGK1",
"entity_type": "gene"
},
{
"created": "2023-08-18T10:16:16.939193+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.243",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Tag founder tag was added to gene: DDRGK1.",
"entity_name": "DDRGK1",
"entity_type": "gene"
},
{
"created": "2023-08-18T10:15:55.617607+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.243",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: DDRGK1 as Green List (high evidence)",
"entity_name": "DDRGK1",
"entity_type": "gene"
},
{
"created": "2023-08-18T10:15:55.602167+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.243",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: ddrgk1 has been classified as Green List (High Evidence).",
"entity_name": "DDRGK1",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:36:14.632088+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NHLRC1 as ready",
"entity_name": "NHLRC1",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:36:14.622273+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nhlrc1 has been classified as Green List (High Evidence).",
"entity_name": "NHLRC1",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:36:10.745846+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NHLRC1 were changed from to Epilepsy, progressive myoclonic 2B (Lafora Disease) MIM#254780",
"entity_name": "NHLRC1",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:35:33.320265+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NHLRC1 were set to ",
"entity_name": "NHLRC1",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:34:56.223445+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NHLRC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NHLRC1",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:33:46.373989+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NPC2 as ready",
"entity_name": "NPC2",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:33:46.362147+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: npc2 has been classified as Green List (High Evidence).",
"entity_name": "NPC2",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:33:43.858579+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NPC2 were changed from to Niemann-pick disease, type C2 MIM#607625",
"entity_name": "NPC2",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:32:59.353868+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NPC2 were set to ",
"entity_name": "NPC2",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:32:22.275812+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NPC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPC2",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:31:34.068112+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OPTN as ready",
"entity_name": "OPTN",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:31:34.057581+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: optn has been classified as Green List (High Evidence).",
"entity_name": "OPTN",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:31:29.108171+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OPTN were changed from to Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia (MIM#613435)",
"entity_name": "OPTN",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:30:52.450888+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OPTN were set to ",
"entity_name": "OPTN",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:30:14.597829+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OPTN was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "OPTN",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:29:27.974189+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PANK2 as ready",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:29:27.964335+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pank2 has been classified as Green List (High Evidence).",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:29:23.812971+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PANK2 were changed from to Neurodegeneration with brain iron accumulation 1 (MIM#234200)",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:28:19.460376+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PANK2 were set to ",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:27:33.934166+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PANK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:26:47.910122+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRNP as ready",
"entity_name": "PRNP",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:26:47.899238+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prnp has been classified as Green List (High Evidence).",
"entity_name": "PRNP",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:26:44.533534+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRNP were changed from to Prion Disease (MIM#176640); Creutzfeldt-Jakob disease (MIM#123400)",
"entity_name": "PRNP",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:26:03.821501+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRNP were set to ",
"entity_name": "PRNP",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:25:26.892813+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRNP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRNP",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:24:39.860161+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PSEN1 as ready",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:24:39.844399+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psen1 has been classified as Green List (High Evidence).",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:24:36.209782+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PSEN1 were changed from to Alzheimer disease, type 3 (MIM#607822; MONDO:0011913)",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:23:53.799904+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PSEN1 were set to ",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:23:16.301752+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PSEN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:22:28.702182+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PSEN2 as ready",
"entity_name": "PSEN2",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:22:28.692145+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psen2 has been classified as Green List (High Evidence).",
"entity_name": "PSEN2",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:22:21.341344+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PSEN2 were changed from to Alzheimer disease-4 (MIM#606889)",
"entity_name": "PSEN2",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:21:44.395740+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PSEN2 were set to ",
"entity_name": "PSEN2",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:21:06.815928+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PSEN2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PSEN2",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:19:35.924101+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SQSTM1 as ready",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:19:35.890950+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sqstm1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:19:33.340962+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SQSTM1 were changed from to Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (MIM#616437)",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:18:54.986248+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SQSTM1 were set to ",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:18:18.873919+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SQSTM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:17:42.346233+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SQSTM1 as Amber List (moderate evidence)",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:17:42.330752+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sqstm1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:16:25.984757+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TARDBP as ready",
"entity_name": "TARDBP",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:16:25.976187+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tardbp has been classified as Green List (High Evidence).",
"entity_name": "TARDBP",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:16:23.103053+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TARDBP were changed from to Amyotrophic lateral sclerosis 10, with or without FTD (MIM#612069)",
"entity_name": "TARDBP",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:15:45.885541+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TARDBP were set to ",
"entity_name": "TARDBP",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:15:00.615397+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TARDBP was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TARDBP",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:14:12.050372+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBK1 as ready",
"entity_name": "TBK1",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:14:12.033311+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbk1 has been classified as Green List (High Evidence).",
"entity_name": "TBK1",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:14:08.760787+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBK1 were changed from to Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, MIM# 616439",
"entity_name": "TBK1",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:13:12.196687+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBK1 were set to ",
"entity_name": "TBK1",
"entity_type": "gene"
},
{
"created": "2023-08-17T16:12:35.146805+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBK1",
"entity_type": "gene"
}
]
}